#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
TNFRSF9	3604	broad.mit.edu	37	1	7995185	7995185	+	Silent	SNP	C	C	T	rs541005362		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:7995185C>T	ENST00000377507.3	-	6	598	c.432G>A	c.(430-432)aaG>aaA	p.K144K		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	144					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)	p.K144K(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGCACAGACTTTCCATCCA	0.468																																						uc001aot.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(430-432)AAG>AAA		tumor necrosis factor receptor superfamily,							91.0	77.0	82.0					1																	7995185		2203	4300	6503	SO:0001819	synonymous_variant	3604				induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	g.chr1:7995185C>T	L12964	CCDS92.1	1p36	2008-02-05			ENSG00000049249	ENSG00000049249		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11924	protein-coding gene	gene with protein product		602250		ILA		8262389, 8639902	Standard	NM_001561		Approved	CD137, 4-1BB	uc001aot.3	Q07011	OTTHUMG00000001223	ENST00000377507.3:c.432G>A	1.37:g.7995185C>T							p.K144K	NM_001561	NP_001552	Q07011	TNR9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)	6	560	-	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	144			Extracellular (Potential).|TNFR-Cys 4.			Silent	SNP	ENST00000377507.3	37	c.432G>A	CCDS92.1																																																																																				PASS	0.468	TNFRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003622.1			19	59	19	59	---	---	---	---
PLOD1	5351	broad.mit.edu	37	1	12027126	12027126	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:12027126A>T	ENST00000196061.4	+	16	1760	c.1733A>T	c.(1732-1734)cAg>cTg	p.Q578L	PLOD1_ENST00000376369.3_Missense_Mutation_p.Q625L	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	578					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803)	p.Q578L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Succinic acid(DB00139)|Vitamin C(DB00126)	CACTTTGGCCAGTGGTCTCTG	0.632																																						uc001atm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1732-1734)CAG>CTG		lysyl hydroxylase 1 precursor	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)						140.0	127.0	131.0					1																	12027126		2203	4300	6503	SO:0001583	missense	5351				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity	g.chr1:12027126A>T	BC016657	CCDS142.1	1p36.22	2011-08-25	2011-08-24	2004-12-14	ENSG00000083444	ENSG00000083444	1.14.11.4		9081	protein-coding gene	gene with protein product	"""lysyl hydroxlase 1"""	153454	"""procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)"""	LLH, PLOD		1577494	Standard	NM_000302		Approved	LH1	uc001atm.3	Q02809	OTTHUMG00000002393	ENST00000196061.4:c.1733A>T	1.37:g.12027126A>T	ENSP00000196061:p.Gln578Leu					PLOD1_uc010obb.1_Missense_Mutation_p.Q625L	p.Q578L	NM_000302	NP_000293	Q02809	PLOD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	16	1824	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	578					B4DR87|Q96AV9|Q9H132	Missense_Mutation	SNP	ENST00000196061.4	37	c.1733A>T	CCDS142.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.062230	0.55432	.	.	ENSG00000083444	ENST00000414311;ENST00000376369;ENST00000196061	D;D	0.83163	-1.69;-1.69	5.64	5.64	0.86602	Prolyl 4-hydroxylase, alpha subunit (1);	0.217460	0.41823	D	0.000820	T	0.78233	0.4251	L	0.43757	1.38	0.43830	D	0.996407	B;B	0.29341	0.242;0.22	B;B	0.25140	0.058;0.033	T	0.77770	-0.2463	10	0.72032	D	0.01	.	15.0395	0.71777	1.0:0.0:0.0:0.0	.	625;578	B4DR87;Q02809	.;PLOD1_HUMAN	L	242;625;578	ENSP00000365548:Q625L;ENSP00000196061:Q578L	ENSP00000196061:Q578L	Q	+	2	0	PLOD1	11949713	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.252000	0.72447	2.145000	0.66743	0.533000	0.62120	CAG		PASS	0.632	PLOD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006865.1	NM_000302		36	78	36	78	---	---	---	---
RHD	6007	broad.mit.edu	37	1	25628018	25628018	+	Silent	SNP	C	C	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:25628018C>G	ENST00000328664.4	+	5	797	c.642C>G	c.(640-642)ctC>ctG	p.L214L	RHD_ENST00000423253.1_3'UTR|RHD_ENST00000342055.5_Silent_p.L214L|RHD_ENST00000454452.2_Silent_p.L214L|RHD_ENST00000357542.4_Silent_p.L214L|RHD_ENST00000423810.2_Silent_p.L214L|RHD_ENST00000417538.2_Silent_p.L214L|RHD_ENST00000568195.1_Silent_p.L214L	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	214						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)	p.L214L(1)		breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGGCGCCCTCTTCTTGTGGA	0.537																																						uc001bjz.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(640-642)CTC>CTG		Rh blood group D antigen isoform 1							97.0	87.0	91.0					1																	25628018		2115	3738	5853	SO:0001819	synonymous_variant	6007					integral to plasma membrane		g.chr1:25628018C>G	AB012623	CCDS262.1, CCDS53285.1, CCDS60027.1, CCDS60028.1, CCDS60029.1, CCDS60030.1, CCDS60031.1	1p36.11	2014-07-19	2013-10-02		ENSG00000187010	ENSG00000187010		"""CD molecules"", ""Blood group antigens"""	10009	protein-coding gene	gene with protein product		111680	"""Rhesus blood group, D antigen"", ""Rh blood group, D antigen"""	RH		8220426	Standard	NM_016124		Approved	Rh30a, Rh4, RhPI, RhII, DIIIc, CD240D	uc001bjz.3	Q02161	OTTHUMG00000003476	ENST00000328664.4:c.642C>G	1.37:g.25628018C>G						RHD_uc010oep.1_Silent_p.L214L|RHD_uc001bkc.2_Silent_p.L214L|RHD_uc009vrm.2_Silent_p.L46L|RHD_uc001bka.2_Silent_p.L214L|RHD_uc001bkb.2_Silent_p.L214L|RHD_uc009vrn.2_Silent_p.L214L|RHD_uc009vro.2_Silent_p.L214L|RHD_uc009vrp.2_Silent_p.L214L	p.L214L	NM_016124	NP_057208	Q02161	RHD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	5	700	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	214			Helical; (Potential).		Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Silent	SNP	ENST00000328664.4	37	c.642C>G	CCDS262.1																																																																																				PASS	0.537	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		7	184	7	184	---	---	---	---
PTGER3	5733	broad.mit.edu	37	1	71512400	71512400	+	Silent	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:71512400G>T	ENST00000306666.5	-	1	1071	c.861C>A	c.(859-861)atC>atA	p.I287I	PTGER3_ENST00000370931.3_Silent_p.I287I|ZRANB2-AS1_ENST00000450461.1_RNA|PTGER3_ENST00000414819.1_Silent_p.I287I|PTGER3_ENST00000460330.1_Silent_p.I287I|PTGER3_ENST00000356595.4_Silent_p.I287I|PTGER3_ENST00000351052.5_Silent_p.I287I|PTGER3_ENST00000370932.2_Silent_p.I287I|PTGER3_ENST00000354608.5_Silent_p.I287I|PTGER3_ENST00000370924.4_Silent_p.I287I	NM_198719.1	NP_942012.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	287					cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957)	p.I287I(5)		endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929)	GCACGCACATGATCCCCATAA	0.627																																						uc001dfg.1																			5	Substitution - coding silent(5)		lung(5)	pancreas(1)|lung(1)|skin(1)	3						c.(859-861)ATC>ATA		prostaglandin E receptor 3, subtype EP3 isoform	Bimatoprost(DB00905)						56.0	50.0	52.0					1																	71512400		2203	4300	6503	SO:0001819	synonymous_variant	5733				cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity	g.chr1:71512400G>T	X83863	CCDS652.1, CCDS655.1, CCDS656.1, CCDS657.1, CCDS658.1	1p31.2	2012-08-08			ENSG00000050628	ENSG00000050628		"""GPCR / Class A : Prostanoid receptors"""	9595	protein-coding gene	gene with protein product		176806				7759114, 9073510	Standard	NM_001126044		Approved	EP3	uc001dfo.3	P43115	OTTHUMG00000009399	ENST00000306666.5:c.861C>A	1.37:g.71512400G>T						PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Silent_p.I287I|PTGER3_uc001dfl.1_Silent_p.I287I|PTGER3_uc009wbm.1_Silent_p.I287I|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Silent_p.I287I|PTGER3_uc009wbn.1_Silent_p.I287I|PTGER3_uc009wbo.2_Silent_p.I287I|PTGER3_uc001dfo.2_Silent_p.I287I|PTGER3_uc001dfp.1_Silent_p.I287I|PTGER3_uc001dfq.2_Silent_p.I287I|uc001dfr.2_RNA	p.I287I	NM_198714	NP_942007	P43115	PE2R3_HUMAN			1	1092	-			287			Helical; Name=6; (Potential).		B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64	Silent	SNP	ENST00000306666.5	37	c.861C>A	CCDS657.1																																																																																				PASS	0.627	PTGER3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026076.1	NM_000957		23	74	23	74	---	---	---	---
LRRC53	100144878	broad.mit.edu	37	1	74954877	74954877	+	Intron	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:74954877G>T	ENST00000294635.4	-	2	89				FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R823I|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R810I|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R709I			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53							integral component of membrane (GO:0016021)		p.R709I(1)		NS(1)|breast(1)|lung(2)	4						TTACAGGGAAGACCCGAATTT	0.343																																						uc001dgf.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(2125-2127)AGA>ATA		TNNI3 interacting kinase isoform b							70.0	82.0	78.0					1																	74954877		2203	4300	6503	SO:0001627	intron_variant	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74954877G>T			1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.26-5818C>A	1.37:g.74954877G>T						TNNI3K_uc001dge.1_Missense_Mutation_p.R810I	p.R709I	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			22	2177	+			709			Protein kinase.			Missense_Mutation	SNP	ENST00000294635.4	37	c.2126G>T		.	.	.	.	.	.	.	.	.	.	G	25.2	4.610010	0.87258	.	.	ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000557284;ENST00000370891;ENST00000326637	T;T;T	0.76186	-1.0;-1.0;-1.0	5.62	5.62	0.85841	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89494	0.6731	H	0.96805	3.885	0.80722	D	1	D;D	0.67145	0.991;0.996	P;P	0.61070	0.857;0.883	D	0.92565	0.6061	10	0.87932	D	0	.	19.6523	0.95822	0.0:0.0:1.0:0.0	.	709;810	Q59H18;Q59H18-1	TNI3K_HUMAN;.	I	810;810;709	ENSP00000450895:R810I;ENSP00000359928:R810I;ENSP00000322251:R709I	ENSP00000322251:R709I	R	+	2	0	RP11-653A5.2;AC093158.1	74727465	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.839000	0.92120	2.641000	0.89580	0.650000	0.86243	AGA		PASS	0.343	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000026515.2			28	91	28	91	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75078454	75078454	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:75078454G>T	ENST00000326665.5	-	9	1258	c.1040C>A	c.(1039-1041)cCc>cAc	p.P347H	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.P150H	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		347								p.P347H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GAGACTGAAGGGGAAACCATG	0.413																																						uc001dgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(1039-1041)CCC>CAC		hypothetical protein LOC127254							79.0	79.0	79.0					1																	75078454		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75078454G>T																												ENST00000326665.5:c.1040C>A	1.37:g.75078454G>T	ENSP00000322609:p.Pro347His					uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.P141H	p.P347H	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			9	1259	-			347					Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1040C>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.012927	0.93346	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.59638	0.68;0.25	5.93	5.93	0.95920	.	.	.	.	.	T	0.75117	0.3806	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76531	-0.2925	9	0.87932	D	0	-10.6854	19.9457	0.97181	0.0:0.0:1.0:0.0	.	150;347	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	H	347;150	ENSP00000322609:P347H;ENSP00000398581:P150H	ENSP00000322609:P347H	P	-	2	0	C1orf173	74851042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.441000	0.97557	2.808000	0.96608	0.655000	0.94253	CCC		PASS	0.413	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			16	44	16	44	---	---	---	---
MSH4	4438	broad.mit.edu	37	1	76343990	76343990	+	Silent	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:76343990A>G	ENST00000263187.3	+	11	1631	c.1527A>G	c.(1525-1527)gtA>gtG	p.V509V		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	509					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.V509V(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CAGAGATTGTAGATGACATAG	0.373								Mismatch excision repair (MMR)																														uc001dhd.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)|ovary(2)	5						c.(1525-1527)GTA>GTG	MMR	mutS homolog 4							107.0	105.0	105.0					1																	76343990		2203	4300	6503	SO:0001819	synonymous_variant	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76343990A>G	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1527A>G	1.37:g.76343990A>G							p.V509V	NM_002440	NP_002431	O15457	MSH4_HUMAN			11	1568	+			509					Q5T4U6|Q8NEB3|Q9UNP8	Silent	SNP	ENST00000263187.3	37	c.1527A>G	CCDS670.1																																																																																				PASS	0.373	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		8	64	8	64	---	---	---	---
MSH4	4438	broad.mit.edu	37	1	76349469	76349469	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:76349469A>T	ENST00000263187.3	+	15	2174	c.2070A>T	c.(2068-2070)ttA>ttT	p.L690F		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	690					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)	p.L690F(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CCACATATTTAAAACAGATTG	0.348								Mismatch excision repair (MMR)																														uc001dhd.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)	5						c.(2068-2070)TTA>TTT	MMR	mutS homolog 4							136.0	135.0	136.0					1																	76349469		2203	4300	6503	SO:0001583	missense	4438				chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding	g.chr1:76349469A>T	U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.2070A>T	1.37:g.76349469A>T	ENSP00000263187:p.Leu690Phe						p.L690F	NM_002440	NP_002431	O15457	MSH4_HUMAN			15	2111	+			690					Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	ENST00000263187.3	37	c.2070A>T	CCDS670.1	.	.	.	.	.	.	.	.	.	.	A	14.39	2.522479	0.44866	.	.	ENSG00000057468	ENST00000263187	D	0.89617	-2.54	5.84	3.53	0.40419	DNA mismatch repair protein MutS, C-terminal (2);	0.072669	0.53938	D	0.000043	D	0.89829	0.6828	H	0.97587	4.035	0.36514	D	0.869781	B	0.21688	0.059	B	0.30943	0.122	D	0.89049	0.3454	10	0.72032	D	0.01	-14.4049	8.9281	0.35652	0.7102:0.0:0.2898:0.0	.	690	O15457	MSH4_HUMAN	F	690	ENSP00000263187:L690F	ENSP00000263187:L690F	L	+	3	2	MSH4	76122057	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	0.926000	0.28804	1.051000	0.40369	0.491000	0.48974	TTA		PASS	0.348	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026983.1	NM_002440		39	107	39	107	---	---	---	---
DNASE2B	58511	broad.mit.edu	37	1	84880477	84880477	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:84880477T>C	ENST00000370665.3	+	6	1045	c.1012T>C	c.(1012-1014)Ttc>Ctc	p.F338L	DNASE2B_ENST00000370662.3_Missense_Mutation_p.F130L	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	338					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)	p.F338L(1)|p.F130L(1)		endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		AAGTGGAGGATTCATTTGTAC	0.408																																					Pancreas(54;788 1175 11852 16034 30034)	uc001djt.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1012-1014)TTC>CTC	Direct_reversal_of_damage	deoxyribonuclease II beta isoform 1 precursor							57.0	55.0	56.0					1																	84880477		2203	4300	6503	SO:0001583	missense	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84880477T>C	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.1012T>C	1.37:g.84880477T>C	ENSP00000359699:p.Phe338Leu					DNASE2B_uc001dju.1_Missense_Mutation_p.F130L|DNASE2B_uc009wch.1_Missense_Mutation_p.F130L	p.F338L	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	6	1045	+			338					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Missense_Mutation	SNP	ENST00000370665.3	37	c.1012T>C	CCDS44167.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.137237	0.37728	.	.	ENSG00000137976	ENST00000370665;ENST00000370662	T;T	0.13089	2.62;2.62	5.28	4.12	0.48240	.	0.055608	0.64402	D	0.000001	T	0.03959	0.0111	L	0.41824	1.3	0.46725	D	0.999173	B	0.25007	0.116	B	0.28011	0.085	T	0.08269	-1.0730	10	0.06099	T	0.92	-13.4133	11.4637	0.50225	0.0:0.0722:0.0:0.9278	.	338	Q8WZ79	DNS2B_HUMAN	L	338;130	ENSP00000359699:F338L;ENSP00000359696:F130L	ENSP00000359696:F130L	F	+	1	0	DNASE2B	84653065	0.977000	0.34250	1.000000	0.80357	0.986000	0.74619	1.990000	0.40717	2.211000	0.71520	0.533000	0.62120	TTC		PASS	0.408	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		33	64	33	64	---	---	---	---
BARHL2	343472	broad.mit.edu	37	1	91182612	91182612	+	Silent	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:91182612G>A	ENST00000370445.4	-	1	182	c.141C>T	c.(139-141)gcC>gcT	p.A47A		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	47					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.A47A(1)		cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		GAGATGGGGTGGCCTGACTCC	0.592																																					GBM(199;3561 4100 22440)	uc001dns.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(139-141)GCC>GCT		BarH-like homeobox 2							82.0	91.0	88.0					1																	91182612		2203	4300	6503	SO:0001819	synonymous_variant	343472					nucleus	sequence-specific DNA binding	g.chr1:91182612G>A	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.141C>T	1.37:g.91182612G>A							p.A47A	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	1	183	-		all_lung(203;0.0263)|Lung SC(238;0.128)	47					A0AVP2|Q7Z4N7	Silent	SNP	ENST00000370445.4	37	c.141C>T	CCDS730.1																																																																																				PASS	0.592	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			59	101	59	101	---	---	---	---
EVI5	7813	broad.mit.edu	37	1	93202101	93202101	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:93202101C>A	ENST00000370331.1	-	2	144	c.135G>T	c.(133-135)atG>atT	p.M45I	EVI5_ENST00000540033.1_Missense_Mutation_p.M45I|EVI5_ENST00000543509.1_Missense_Mutation_p.M45I	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	45	Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|retrograde transport, endosome to Golgi (GO:0042147)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.M45I(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		CCTGACTGGCCATCTGACTGA	0.458																																						uc001dox.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(133-135)ATG>ATT		ecotropic viral integration site 5							379.0	317.0	338.0					1																	93202101		2203	4300	6503	SO:0001583	missense	7813				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity	g.chr1:93202101C>A	AF008915	CCDS30774.1	1p22	2013-07-09			ENSG00000067208	ENSG00000067208			3501	protein-coding gene	gene with protein product	"""neuroblastoma stage 4S gene"""	602942				9618176	Standard	XM_005271180		Approved	NB4S	uc001dox.3	O60447	OTTHUMG00000010895	ENST00000370331.1:c.135G>T	1.37:g.93202101C>A	ENSP00000359356:p.Met45Ile					EVI5_uc010otf.1_Missense_Mutation_p.M45I	p.M45I	NM_005665	NP_005656	O60447	EVI5_HUMAN		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)	2	145	-		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)	45			Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich.		A6NKX8|B9A6J0|Q9H1Y9	Missense_Mutation	SNP	ENST00000370331.1	37	c.135G>T	CCDS30774.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094309	0.56075	.	.	ENSG00000067208	ENST00000370331;ENST00000540033;ENST00000543509	T;T;T	0.04758	3.56;3.56;3.56	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.02571	0.0078	L	0.36672	1.1	0.49915	D	0.999839	B;B	0.22683	0.073;0.043	B;B	0.21708	0.036;0.016	T	0.35425	-0.9789	10	0.66056	D	0.02	-14.1772	14.096	0.65021	0.0:0.9251:0.0:0.0749	.	45;45	F5H4R0;O60447	.;EVI5_HUMAN	I	45	ENSP00000359356:M45I;ENSP00000440826:M45I;ENSP00000445019:M45I	ENSP00000359356:M45I	M	-	3	0	EVI5	92974689	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.760000	0.68793	2.456000	0.83038	0.305000	0.20034	ATG		PASS	0.458	EVI5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030047.1	NM_005665		61	156	61	156	---	---	---	---
AMY2B	280	broad.mit.edu	37	1	104120169	104120169	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:104120169A>T	ENST00000361355.4	+	10	1775	c.1159A>T	c.(1159-1161)Att>Ttt	p.I387F	AMY2B_ENST00000491397.1_Intron	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	387					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.I387F(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AGAAGTTACTATTAATCCAGA	0.353																																						uc001duq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1159-1161)ATT>TTT		amylase, pancreatic, alpha-2B precursor							95.0	99.0	98.0					1																	104120169		2202	4297	6499	SO:0001583	missense	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104120169A>T	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.1159A>T	1.37:g.104120169A>T	ENSP00000354610:p.Ile387Phe					AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.I387F|AMY2B_uc001dus.1_RNA	p.I387F	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	10	1775	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	387					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Missense_Mutation	SNP	ENST00000361355.4	37	c.1159A>T	CCDS782.1	.	.	.	.	.	.	.	.	.	.	A	11.85	1.762990	0.31228	.	.	ENSG00000240038	ENST00000361355	.	.	.	4.82	4.82	0.62117	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycosyl hydrolase, family 13, subfamily, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.24470	0.0593	L	0.38175	1.15	0.80722	D	1	B	0.23442	0.085	B	0.21360	0.034	T	0.18493	-1.0335	9	0.02654	T	1	.	14.3577	0.66748	1.0:0.0:0.0:0.0	.	387	P19961	AMY2B_HUMAN	F	387	.	ENSP00000354610:I387F	I	+	1	0	AMY2B	103921692	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.274000	0.78538	1.789000	0.52484	0.372000	0.22366	ATT		PASS	0.353	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978		72	163	72	163	---	---	---	---
FAM102B	284611	broad.mit.edu	37	1	109143220	109143220	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:109143220G>A	ENST00000370035.3	+	2	510	c.170G>A	c.(169-171)aGa>aAa	p.R57K	FAM102B_ENST00000405454.1_Missense_Mutation_p.R57K	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	57								p.R26K(1)|p.R57K(1)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GTTCGCTGGAGAAAGAAGTTC	0.388																																						uc010ouy.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(169-171)AGA>AAA		hypothetical protein LOC284611							123.0	120.0	121.0					1																	109143220		2203	4300	6503	SO:0001583	missense	284611							g.chr1:109143220G>A	CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.170G>A	1.37:g.109143220G>A	ENSP00000359052:p.Arg57Lys						p.R57K	NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)	2	250	+		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	57					A1L1A1|B0QZ46|B0QZ47|Q68DH7	Missense_Mutation	SNP	ENST00000370035.3	37	c.170G>A	CCDS30786.2	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987407	0.35036	.	.	ENSG00000162636	ENST00000370035;ENST00000405454;ENST00000437902	T;T	0.40476	1.03;1.03	5.37	4.46	0.54185	.	0.082341	0.85682	N	0.000000	T	0.13030	0.0316	L	0.31845	0.965	0.33761	D	0.621897	B	0.06786	0.001	B	0.08055	0.003	T	0.10405	-1.0631	10	0.15499	T	0.54	-12.986	9.8022	0.40770	0.2002:0.0:0.7998:0.0	.	57	Q5T8I3	F102B_HUMAN	K	57	ENSP00000359052:R57K;ENSP00000386084:R57K	ENSP00000359052:R57K	R	+	2	0	FAM102B	108944743	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.208000	0.32345	1.412000	0.46977	-0.225000	0.12378	AGA		PASS	0.388	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030188.3	NM_001010883		9	80	9	80	---	---	---	---
RSBN1	54665	broad.mit.edu	37	1	114308799	114308799	+	Silent	SNP	T	T	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:114308799T>G	ENST00000261441.5	-	7	2275	c.2212A>C	c.(2212-2214)Agg>Cgg	p.R738R	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	738						nucleus (GO:0005634)		p.R738R(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTTTTATCCTCACACATTGG	0.418																																						uc001edq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2212-2214)AGG>CGG		round spermatid basic protein 1							221.0	204.0	210.0					1																	114308799		2203	4300	6503	SO:0001819	synonymous_variant	54665					nucleus		g.chr1:114308799T>G	AK002082	CCDS862.1	1p13.1	2008-02-05			ENSG00000081019	ENSG00000081019			25642	protein-coding gene	gene with protein product		615858				12477932	Standard	NM_018364		Approved	FLJ11220, ROSBIN	uc001edq.3	Q5VWQ0	OTTHUMG00000011938	ENST00000261441.5:c.2212A>C	1.37:g.114308799T>G						RSBN1_uc001edr.2_RNA	p.R738R	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	7	2248	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	738					A8K937|Q6AI21|Q8TC33|Q9HA80|Q9NUP6	Silent	SNP	ENST00000261441.5	37	c.2212A>C	CCDS862.1																																																																																				PASS	0.418	RSBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033022.2	NM_018364		11	192	11	192	---	---	---	---
IGSF3	3321	broad.mit.edu	37	1	117150804	117150804	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:117150804T>C	ENST00000369486.3	-	5	1747	c.982A>G	c.(982-984)Atg>Gtg	p.M328V	IGSF3_ENST00000369483.1_Missense_Mutation_p.M328V|IGSF3_ENST00000318837.6_Missense_Mutation_p.M328V	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	328	Ig-like C2-type 3.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.M328V(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TTAGGACCCATGGTGGCGATG	0.577																																						uc001egr.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(982-984)ATG>GTG		immunoglobulin superfamily, member 3 isoform 2							14.0	14.0	14.0					1																	117150804		2185	4275	6460	SO:0001583	missense	3321					integral to membrane		g.chr1:117150804T>C	AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.982A>G	1.37:g.117150804T>C	ENSP00000358498:p.Met328Val					IGSF3_uc001egq.1_Missense_Mutation_p.M328V|IGSF3_uc001egs.1_Missense_Mutation_p.M1V	p.M328V	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)	5	1687	-	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)	328			Ig-like C2-type 3.|Extracellular (Potential).		A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	c.982A>G	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	T	4.678	0.125992	0.08931	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.02421	4.3;4.3;4.3	4.67	0.711	0.18162	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.202896	0.46145	N	0.000313	T	0.00384	0.0012	N	0.03608	-0.345	0.30675	N	0.752929	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.001;0.002	T	0.43376	-0.9395	10	0.16896	T	0.51	-47.3761	4.5649	0.12180	0.0:0.1749:0.2512:0.5739	.	328;328;328	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	V	328	ENSP00000358498:M328V;ENSP00000358495:M328V;ENSP00000321184:M328V	ENSP00000321184:M328V	M	-	1	0	IGSF3	116952327	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	1.172000	0.31908	0.358000	0.24211	0.455000	0.32223	ATG		PASS	0.577	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542		7	21	7	21	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118539335	118539335	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:118539335A>G	ENST00000336338.5	-	33	4873	c.4808T>C	c.(4807-4809)tTa>tCa	p.L1603S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1603						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.L1603S(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTTTCAGGTAATATAGTTGA	0.338																																						uc001ehk.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(4807-4809)TTA>TCA		sperm associated antigen 17							74.0	77.0	76.0					1																	118539335		2203	4298	6501	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118539335A>G		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4808T>C	1.37:g.118539335A>G	ENSP00000337804:p.Leu1603Ser						p.L1603S	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	33	4876	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1603					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4808T>C	CCDS899.1	.	.	.	.	.	.	.	.	.	.	A	12.79	2.044567	0.36085	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.21932	1.98	5.2	5.2	0.72013	.	0.334548	0.29424	N	0.012186	T	0.16171	0.0389	L	0.41236	1.265	0.09310	N	0.999997	P	0.51791	0.948	P	0.53102	0.718	T	0.03278	-1.1053	10	0.72032	D	0.01	.	11.3873	0.49793	1.0:0.0:0.0:0.0	.	1603	Q6Q759	SPG17_HUMAN	S	1603;83	ENSP00000337804:L1603S	ENSP00000337804:L1603S	L	-	2	0	SPAG17	118340858	0.645000	0.27286	0.072000	0.20136	0.186000	0.23388	2.456000	0.44997	2.174000	0.68829	0.533000	0.62120	TTA		PASS	0.338	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		26	84	26	84	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152188349	152188349	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:152188349G>T	ENST00000368801.2	-	3	5831	c.5756C>A	c.(5755-5757)tCa>tAa	p.S1919*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1919					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S1919*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGGAAGATGAACCTGAGCT	0.577																																						uc001ezt.1																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(5755-5757)TCA>TAA		hornerin							620.0	903.0	808.0					1																	152188349		2172	4297	6469	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152188349G>T	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5756C>A	1.37:g.152188349G>T	ENSP00000357791:p.Ser1919*						p.S1919*	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5832	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1919			21.		Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.5756C>A	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	43	9.845019	0.99277	.	.	ENSG00000197915	ENST00000368801	.	.	.	4.01	0.322	0.15888	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	3.5862	0.07972	0.0:0.2171:0.1997:0.5832	.	.	.	.	X	1919	.	ENSP00000357791:S1919X	S	-	2	0	HRNR	150454973	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.054000	0.11826	-0.032000	0.13758	-0.374000	0.07098	TCA		PASS	0.577	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		31	901	31	901	---	---	---	---
LCE4A	199834	broad.mit.edu	37	1	152681748	152681748	+	Missense_Mutation	SNP	A	A	G	rs199914704		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:152681748A>G	ENST00000368777.1	+	2	453	c.197A>G	c.(196-198)cAt>cGt	p.H66R	LCE4A_ENST00000335535.3_Missense_Mutation_p.H66R			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	66	Cys-rich.				keratinization (GO:0031424)			p.H66R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CACAGACACCATAGGTCCCAC	0.627													A|||	1	0.000199681	0.0008	0.0	5008	,	,		15363	0.0		0.0	False		,,,				2504	0.0					uc001fak.2																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)CAT>CGT		late cornified envelope 4A							53.0	60.0	58.0					1																	152681748		2203	4300	6503	SO:0001583	missense	199834				keratinization			g.chr1:152681748A>G	BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	ENST00000368777.1:c.197A>G	1.37:g.152681748A>G	ENSP00000357766:p.His66Arg						p.H66R	NM_178356	NP_848133	Q5TA78	LCE4A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.116)		1	226	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		66			Cys-rich.		Q14D97	Missense_Mutation	SNP	ENST00000368777.1	37	c.197A>G	CCDS1022.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	5.222	0.226494	0.09916	.	.	ENSG00000187170	ENST00000368777;ENST00000335535	T;T	0.02737	4.18;4.18	4.53	-7.1	0.01547	.	.	.	.	.	T	0.00524	0.0017	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47598	-0.9105	8	0.20519	T	0.43	.	9.0421	0.36325	0.6523:0.1185:0.2292:0.0	.	66	Q5TA78	LCE4A_HUMAN	R	66	ENSP00000357766:H66R;ENSP00000335223:H66R	ENSP00000335223:H66R	H	+	2	0	LCE4A	150948372	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-2.426000	0.01027	-1.428000	0.01989	-1.843000	0.00578	CAT		PASS	0.627	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356		35	76	35	76	---	---	---	---
FCRL3	115352	broad.mit.edu	37	1	157667548	157667548	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:157667548C>A	ENST00000368184.3	-	5	751	c.460G>T	c.(460-462)Gtc>Ttc	p.V154F	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.V154F	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	154	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V154F(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCCCTGGAGACTGAATTCACT	0.343																																						uc001frb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(460-462)GTC>TTC		Fc receptor-like 3 precursor							179.0	181.0	181.0					1																	157667548		2203	4300	6503	SO:0001583	missense	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157667548C>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.460G>T	1.37:g.157667548C>A	ENSP00000357167:p.Val154Phe					FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.V154F|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.V154F	p.V154F	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			5	752	-	all_hematologic(112;0.0378)		154			Ig-like C2-type 2.|Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Missense_Mutation	SNP	ENST00000368184.3	37	c.460G>T	CCDS1167.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.575610	0.45902	.	.	ENSG00000160856	ENST00000368186;ENST00000368184;ENST00000292392	T;T	0.16897	2.31;2.31	5.3	0.121	0.14695	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	18.281800	0.00481	N	0.000128	T	0.24928	0.0605	M	0.79926	2.475	0.09310	N	1	D;B	0.57571	0.98;0.393	P;B	0.60236	0.871;0.211	T	0.11012	-1.0605	10	0.56958	D	0.05	.	9.3976	0.38412	0.0:0.6141:0.0:0.3859	.	154;154	Q96P31;Q96P31-6	FCRL3_HUMAN;.	F	154	ENSP00000357169:V154F;ENSP00000357167:V154F	ENSP00000292392:V154F	V	-	1	0	FCRL3	155934172	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-0.448000	0.06820	0.097000	0.17492	0.561000	0.74099	GTC		PASS	0.343	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		47	158	47	158	---	---	---	---
OR10J3	441911	broad.mit.edu	37	1	159283599	159283599	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:159283599G>T	ENST00000332217.5	-	1	850	c.851C>A	c.(850-852)cCt>cAt	p.P284H		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P284H(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GGGTTCAGTAGGGGAGTGATG	0.507																																						uc010piu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(850-852)CCT>CAT		olfactory receptor, family 10, subfamily J,							121.0	105.0	111.0					1																	159283599		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159283599G>T		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.851C>A	1.37:g.159283599G>T	ENSP00000331789:p.Pro284His						p.P284H	NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN			1	851	-	all_hematologic(112;0.0429)		284			Helical; Name=7; (Potential).			Missense_Mutation	SNP	ENST00000332217.5	37	c.851C>A	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.989737	0.54041	.	.	ENSG00000196266	ENST00000332217	T	0.44083	0.93	5.34	2.27	0.28462	.	0.000000	0.32671	U	0.005784	T	0.62660	0.2446	H	0.98682	4.3	0.30594	N	0.761235	D	0.76494	0.999	D	0.79108	0.992	T	0.60265	-0.7297	10	0.87932	D	0	.	4.1252	0.10125	0.2856:0.1722:0.5422:0.0	.	284	Q5JRS4	O10J3_HUMAN	H	284	ENSP00000331789:P284H	ENSP00000331789:P284H	P	-	2	0	OR10J3	157550223	0.000000	0.05858	0.987000	0.45799	0.925000	0.55904	-0.280000	0.08468	0.820000	0.34516	0.655000	0.94253	CCT		PASS	0.507	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			40	124	40	124	---	---	---	---
DCAF8	50717	broad.mit.edu	37	1	160209596	160209596	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:160209596C>A	ENST00000368073.3	-	4	1048	c.614G>T	c.(613-615)gGc>gTc	p.G205V	DCAF8_ENST00000475733.1_Missense_Mutation_p.G205V|DCAF8_ENST00000610139.1_Missense_Mutation_p.G205V|DCAF8_ENST00000368074.1_Missense_Mutation_p.G205V|DCAF8_ENST00000556710.1_Missense_Mutation_p.G359V|DCAF8_ENST00000326837.2_Missense_Mutation_p.G205V|DCAF8_ENST00000608310.1_Missense_Mutation_p.G359V			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	205					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G205V(1)|p.G359V(1)		cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						CAGCCAGGTGCCGCGCTGGTT	0.582																																						uc001fvo.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(613-615)GGC>GTC		DDB1 and CUL4 associated factor 8							65.0	67.0	66.0					1																	160209596		2203	4300	6503	SO:0001583	missense	50717					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160209596C>A	AK093176	CCDS1200.1	1q22-q23	2013-01-09	2009-07-17	2009-07-17	ENSG00000132716	ENSG00000132716		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24891	protein-coding gene	gene with protein product		615820	"""WD repeat domain 42A"""	WDR42A		11401431	Standard	NM_015726		Approved	H326, FLJ35857	uc010pjb.1	Q5TAQ9	OTTHUMG00000031604	ENST00000368073.3:c.614G>T	1.37:g.160209596C>A	ENSP00000357052:p.Gly205Val					DCAF8_uc001fvn.2_Missense_Mutation_p.G205V|DCAF8_uc009wth.2_Missense_Mutation_p.G205V|DCAF8_uc010pjb.1_Missense_Mutation_p.G205V|DCAF8_uc010pjc.1_Missense_Mutation_p.G359V|DCAF8_uc001fvq.3_Missense_Mutation_p.G205V|DCAF8_uc001fvp.3_Missense_Mutation_p.G205V|uc010pjd.1_Missense_Mutation_p.P43T	p.G205V	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN			4	926	-			205			WD 1.		D3DVE6|Q12839|Q4QQI6|Q53F14|Q66K50|Q68CS7|Q96E00	Missense_Mutation	SNP	ENST00000368073.3	37	c.614G>T	CCDS1200.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936737	0.73557	.	.	ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000132716;ENSG00000258465	ENST00000368073;ENST00000326837;ENST00000368074;ENST00000555195;ENST00000540855;ENST00000447377;ENST00000556710	T;T;T;T;D;T	0.85258	-0.21;-0.21;-0.21;-0.21;-1.96;-0.21	5.22	4.31	0.51392	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	U	0.000001	D	0.92642	0.7662	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	0.989;1.0;1.0	P;D;D	0.97110	0.884;1.0;1.0	D	0.94177	0.7428	10	0.87932	D	0	-5.4394	12.9151	0.58200	0.0:0.9201:0.0:0.0799	.	359;205;205	G3V3G9;Q5TAQ9-2;Q5TAQ9	.;.;DCAF8_HUMAN	V	205;205;205;359;186;205;359	ENSP00000357052:G205V;ENSP00000318227:G205V;ENSP00000357053:G205V;ENSP00000451989:G359V;ENSP00000413688:G205V;ENSP00000451235:G359V	ENSP00000318227:G205V	G	-	2	0	RP11-574F21.3;DCAF8	158476220	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.825000	0.75293	1.199000	0.43173	0.655000	0.94253	GGC		PASS	0.582	DCAF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077402.2	NM_015726		26	46	26	46	---	---	---	---
MROH9	80133	broad.mit.edu	37	1	170928624	170928624	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:170928624G>T	ENST00000367758.3	+	5	273	c.174G>T	c.(172-174)caG>caT	p.Q58H	MROH9_ENST00000367759.4_Missense_Mutation_p.Q58H	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	58								p.Q58H(2)									CCTTACTGCAGTTTGAATCTC	0.328																																						uc001ghg.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(172-174)CAG>CAT		hypothetical protein LOC80133 isoform 2							115.0	102.0	106.0					1																	170928624		1834	4097	5931	SO:0001583	missense	80133						binding	g.chr1:170928624G>T	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.174G>T	1.37:g.170928624G>T	ENSP00000356732:p.Gln58His					C1orf129_uc009wvy.2_5'UTR|C1orf129_uc010plz.1_Missense_Mutation_p.Q58H	p.Q58H	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			5	304	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		58					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.174G>T	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120282	0.77323	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.15952	3.99;2.38	5.42	-5.53	0.02552	.	0.000000	0.53938	D	0.000047	T	0.19886	0.0478	M	0.62723	1.935	0.25003	N	0.991456	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.25082	-1.0142	10	0.51188	T	0.08	-17.0563	15.9982	0.80268	0.2677:0.0:0.7323:0.0	.	58;58	F5GWX6;Q5TGP6	.;CA129_HUMAN	H	58	ENSP00000356733:Q58H;ENSP00000356732:Q58H	ENSP00000356732:Q58H	Q	+	3	2	C1orf129	169195248	0.550000	0.26489	0.242000	0.24170	0.892000	0.51952	-0.799000	0.04560	-1.048000	0.03238	-0.312000	0.09012	CAG		PASS	0.328	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		5	90	5	90	---	---	---	---
FMO1	2326	broad.mit.edu	37	1	171250059	171250059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:171250059G>A	ENST00000354841.4	+	5	893	c.762G>A	c.(760-762)tgG>tgA	p.W254*	FMO1_ENST00000402921.2_Nonsense_Mutation_p.W191*|FMO1_ENST00000367750.3_Nonsense_Mutation_p.W254*|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	254					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.W254*(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TTGTGACTTGGTTGATGGAGC	0.443																																						uc009wvz.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(760-762)TGG>TGA		flavin containing monooxygenase 1							103.0	97.0	99.0					1																	171250059		2203	4300	6503	SO:0001587	stop_gained	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171250059G>A	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.762G>A	1.37:g.171250059G>A	ENSP00000346901:p.Trp254*					FMO1_uc010pme.1_Nonsense_Mutation_p.W191*|FMO1_uc001ghl.2_Nonsense_Mutation_p.W254*|FMO1_uc001ghm.2_Nonsense_Mutation_p.W254*|FMO1_uc001ghn.2_Nonsense_Mutation_p.W254*	p.W254*	NM_002021	NP_002012	Q01740	FMO1_HUMAN			6	898	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		254					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Nonsense_Mutation	SNP	ENST00000354841.4	37	c.762G>A	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	G	37	6.217041	0.97385	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	.	.	.	6.06	6.06	0.98353	.	0.433888	0.28001	N	0.016998	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	19.3997	0.94623	0.0:0.0:1.0:0.0	.	.	.	.	X	254;191;254	.	ENSP00000346901:W254X	W	+	3	0	FMO1	169516683	1.000000	0.71417	0.909000	0.35828	0.787000	0.44495	4.067000	0.57527	2.871000	0.98454	0.655000	0.94253	TGG		PASS	0.443	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		4	120	4	120	---	---	---	---
ASTN1	460	broad.mit.edu	37	1	176903441	176903441	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:176903441T>C	ENST00000367654.3	-	16	2753	c.2542A>G	c.(2542-2544)Aca>Gca	p.T848A	ASTN1_ENST00000424564.2_Missense_Mutation_p.T840A|ASTN1_ENST00000281881.3_5'Flank|ASTN1_ENST00000361833.2_Missense_Mutation_p.T840A|ASTN1_ENST00000367657.3_Missense_Mutation_p.T840A	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	848					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.T840A(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCACGAGATGTAGCCCCATCC	0.527																																						uc001glc.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(2518-2520)ACA>GCA		astrotactin isoform 1							93.0	80.0	84.0					1																	176903441		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176903441T>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2542A>G	1.37:g.176903441T>C	ENSP00000356626:p.Thr848Ala					ASTN1_uc001glb.1_Missense_Mutation_p.T840A|ASTN1_uc001gld.1_Missense_Mutation_p.T840A	p.T840A	NM_004319	NP_004310	O14525	ASTN1_HUMAN			16	2730	-			848					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.2518A>G		.	.	.	.	.	.	.	.	.	.	T	27.2	4.809980	0.90707	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.61173	0.2326	L	0.40543	1.245	0.80722	D	1	D;D	0.61697	0.99;0.99	D;D	0.72982	0.979;0.979	T	0.63440	-0.6637	10	0.72032	D	0.01	-17.3327	16.0098	0.80391	0.0:0.0:0.0:1.0	.	840;840	O14525-2;B1AJS1	.;.	A	840;840;848;840;840	ENSP00000356629:T840A;ENSP00000354536:T840A;ENSP00000356626:T848A;ENSP00000395041:T840A	ENSP00000354536:T840A	T	-	1	0	ASTN1	175170064	1.000000	0.71417	0.989000	0.46669	0.950000	0.60333	7.517000	0.81783	2.254000	0.74563	0.533000	0.62120	ACA		PASS	0.527	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		13	54	13	54	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185704138	185704138	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:185704138G>A	ENST00000271588.4	+	1	456	c.227G>A	c.(226-228)aGa>aAa	p.R76K	HMCN1_ENST00000367492.2_Missense_Mutation_p.R76K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	76	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.R76K(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGACCTAAAAGACCTCTTTTC	0.368																																						uc001grq.1																			1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(226-228)AGA>AAA		hemicentin 1 precursor							107.0	110.0	109.0					1																	185704138		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185704138G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.227G>A	1.37:g.185704138G>A	ENSP00000271588:p.Arg76Lys						p.R76K	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			1	456	+			76			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.227G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403264	0.25291	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.97505	-4.41;-4.41	5.7	5.7	0.88788	von Willebrand factor, type A (1);	0.074509	0.51477	D	0.000081	D	0.92309	0.7560	N	0.16656	0.425	0.43688	D	0.996136	B	0.25272	0.122	B	0.27380	0.079	D	0.88941	0.3380	10	0.16420	T	0.52	.	12.7464	0.57283	0.0754:0.0:0.9246:0.0	.	76	Q96RW7	HMCN1_HUMAN	K	76	ENSP00000271588:R76K;ENSP00000356462:R76K	ENSP00000271588:R76K	R	+	2	0	HMCN1	183970761	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.551000	0.45820	2.683000	0.91414	0.650000	0.86243	AGA		PASS	0.368	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		15	114	15	114	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190067614	190067614	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:190067614A>G	ENST00000367462.3	-	8	2066	c.1835T>C	c.(1834-1836)tTa>tCa	p.L612S	BRINP3_ENST00000534846.1_Missense_Mutation_p.L510S	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	612					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.L612S(1)									CCCCAGAGTTAATGTCCAGTT	0.453																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1834-1836)TTA>TCA		family with sequence similarity 5, member C							245.0	256.0	252.0					1																	190067614		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067614A>G	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.1835T>C	1.37:g.190067614A>G	ENSP00000356432:p.Leu612Ser					FAM5C_uc010pot.1_Missense_Mutation_p.L510S	p.L612S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	2067	-	Prostate(682;0.198)		612					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1835T>C	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.769447	0.49680	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.32272	1.72;1.46	5.61	4.49	0.54785	.	0.080799	0.51477	D	0.000089	T	0.41811	0.1175	M	0.69823	2.125	0.48571	D	0.999672	D;P	0.58268	0.982;0.675	P;B	0.51135	0.66;0.228	T	0.38243	-0.9670	10	0.87932	D	0	.	9.5871	0.39524	0.917:0.0:0.083:0.0	.	510;612	B7Z260;Q76B58	.;FAM5C_HUMAN	S	612;510	ENSP00000356432:L612S;ENSP00000438022:L510S	ENSP00000356432:L612S	L	-	2	0	FAM5C	188334237	1.000000	0.71417	0.725000	0.30721	0.940000	0.58332	9.237000	0.95368	0.972000	0.38314	0.477000	0.44152	TTA		PASS	0.453	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		122	285	122	285	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190068100	190068100	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:190068100A>T	ENST00000367462.3	-	8	1580	c.1349T>A	c.(1348-1350)cTg>cAg	p.L450Q	BRINP3_ENST00000534846.1_Missense_Mutation_p.L348Q	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	450					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.L450Q(1)									TGCGCATGTCAGGCAGGCAGA	0.637																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1348-1350)CTG>CAG		family with sequence similarity 5, member C							66.0	58.0	61.0					1																	190068100		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190068100A>T	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.1349T>A	1.37:g.190068100A>T	ENSP00000356432:p.Leu450Gln					FAM5C_uc010pot.1_Missense_Mutation_p.L348Q	p.L450Q	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1581	-	Prostate(682;0.198)		450					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1349T>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	A	11.06	1.528603	0.27299	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.42513	0.97;0.97	5.65	5.65	0.86999	Epidermal growth factor-like (1);	0.229092	0.38605	N	0.001639	T	0.18467	0.0443	N	0.02011	-0.69	0.31390	N	0.67792	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.07539	-1.0767	10	0.54805	T	0.06	.	9.1793	0.37131	0.838:0.0:0.0:0.162	.	348;450	B7Z260;Q76B58	.;FAM5C_HUMAN	Q	450;348	ENSP00000356432:L450Q;ENSP00000438022:L348Q	ENSP00000356432:L450Q	L	-	2	0	FAM5C	188334723	0.999000	0.42202	0.991000	0.47740	0.755000	0.42902	4.231000	0.58639	2.146000	0.66826	0.482000	0.46254	CTG		PASS	0.637	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		31	58	31	58	---	---	---	---
FAM71A	149647	broad.mit.edu	37	1	212798765	212798765	+	Silent	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:212798765C>T	ENST00000294829.3	+	1	977	c.546C>T	c.(544-546)agC>agT	p.S182S	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	182						nucleus (GO:0005634)		p.S182S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		AGAGTAACAGCAGTACCTGTG	0.517																																						uc001hjk.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(544-546)AGC>AGT		hypothetical protein LOC149647							105.0	109.0	107.0					1																	212798765		2203	4300	6503	SO:0001819	synonymous_variant	149647							g.chr1:212798765C>T		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.546C>T	1.37:g.212798765C>T						uc010pth.1_RNA	p.S182S	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	950	+			182					Q5VTZ1	Silent	SNP	ENST00000294829.3	37	c.546C>T	CCDS1507.1																																																																																				PASS	0.517	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		6	158	6	158	---	---	---	---
MARC2	54996	broad.mit.edu	37	1	220955184	220955184	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:220955184T>G	ENST00000366913.3	+	7	1147	c.949T>G	c.(949-951)Tat>Gat	p.Y317D	MARC2_ENST00000359316.2_Intron|MARC2_ENST00000472447.1_3'UTR	NM_017898.3	NP_060368.2	Q969Z3	MARC2_HUMAN	mitochondrial amidoxime reducing component 2	317	MOSC. {ECO:0000255|PROSITE- ProRule:PRU00670}.				detoxification of nitrogen compound (GO:0051410)|nitrate metabolic process (GO:0042126)|oxidation-reduction process (GO:0055114)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|nitrate reductase activity (GO:0008940)|pyridoxal phosphate binding (GO:0030170)	p.Y317D(1)									TGGGATCTATTATTCAGTGGA	0.428																																						uc001hmq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(949-951)TAT>GAT		MOCO sulphurase C-terminal domain containing 2							195.0	196.0	196.0					1																	220955184		2203	4300	6503	SO:0001583	missense	54996					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding	g.chr1:220955184T>G		CCDS1525.1	1q41	2011-11-02	2011-11-02	2011-11-02	ENSG00000117791	ENSG00000117791			26064	protein-coding gene	gene with protein product		614127	"""MOCO sulphurase C-terminal domain containing 2"""	MOSC2		11886751	Standard	NM_017898		Approved	FLJ20605	uc001hmq.3	Q969Z3	OTTHUMG00000037354	ENST00000366913.3:c.949T>G	1.37:g.220955184T>G	ENSP00000355880:p.Tyr317Asp					MOSC2_uc001hmr.2_Missense_Mutation_p.Y317D|MOSC2_uc009xdx.2_Intron	p.Y317D	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN		GBM - Glioblastoma multiforme(131;0.00499)|all cancers(67;0.204)	7	1147	+			317			MOSC.		B2D0R5|D3DTB3|Q0JSK7|Q5VT67|Q5VXC7|Q7L317|Q9H066|Q9NWU0	Missense_Mutation	SNP	ENST00000366913.3	37	c.949T>G	CCDS1525.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059358	0.76074	.	.	ENSG00000117791	ENST00000366913	T	0.22336	1.96	5.97	5.97	0.96955	Pyruvate kinase-like, insert domain (1);Molybdenum cofactor sulfurase, C-terminal (2);	0.350972	0.27023	N	0.021309	T	0.32793	0.0841	M	0.62723	1.935	0.37019	D	0.89611	P	0.51653	0.947	P	0.49451	0.611	T	0.34304	-0.9834	10	0.66056	D	0.02	-15.6317	13.9615	0.64182	0.0:0.0:0.0:1.0	.	317	Q969Z3	MOSC2_HUMAN	D	317	ENSP00000355880:Y317D	ENSP00000355880:Y317D	Y	+	1	0	MOSC2	219021807	1.000000	0.71417	0.605000	0.28930	0.714000	0.41099	5.386000	0.66238	2.287000	0.76781	0.482000	0.46254	TAT		PASS	0.428	MARC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090911.1	NM_017898		7	224	7	224	---	---	---	---
LIN9	286826	broad.mit.edu	37	1	226496852	226496852	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:226496852C>A	ENST00000328205.5	-	1	582	c.37G>T	c.(37-39)Ggc>Tgc	p.G13C	LIN9_ENST00000481685.1_Missense_Mutation_p.G13C|LIN9_ENST00000366801.1_5'UTR	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	0	Sufficient for interaction with RB1.				DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)		p.G13C(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TTGAACGAGCCGCGCCGCTTT	0.657																																					Ovarian(197;1696 2974 11248 14117)	uc001hqa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(37-39)GGC>TGC		lin-9 homolog							39.0	38.0	38.0					1																	226496852		2203	4300	6503	SO:0001583	missense	286826				cell cycle|DNA replication	nucleoplasm		g.chr1:226496852C>A	AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.37G>T	1.37:g.226496852C>A	ENSP00000329102:p.Gly13Cys					LIN9_uc001hqb.2_Missense_Mutation_p.G13C|LIN9_uc001hqc.2_Intron|LIN9_uc009xel.1_Missense_Mutation_p.G13C	p.G13C	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN		GBM - Glioblastoma multiforme(131;0.131)	1	347	-	Breast(184;0.158)		Error:Variant_position_missing_in_Q5TKA1_after_alignment					Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	ENST00000328205.5	37	c.37G>T	CCDS1553.1	.	.	.	.	.	.	.	.	.	.	c	19.97	3.925911	0.73327	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000481685;ENST00000366807	.	.	.	4.28	2.05	0.26809	.	1.854550	0.03688	N	0.246597	T	0.41719	0.1171	N	0.08118	0	0.80722	D	1	P;P	0.36162	0.54;0.54	B;B	0.43809	0.382;0.432	T	0.06752	-1.0809	9	0.49607	T	0.09	.	6.8394	0.23955	0.0:0.7282:0.0:0.2718	.	13;147	C9J5J4;B1ANK3	.;.	C	8;13;13;147	.	ENSP00000329102:G13C	G	-	1	0	LIN9	224563475	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.699000	0.54778	0.213000	0.20722	0.444000	0.29173	GGC		PASS	0.657	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091523.2	NM_173083		19	55	19	55	---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235345368	235345368	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:235345368G>T	ENST00000264183.3	-	20	3363	c.2866C>A	c.(2866-2868)Ccg>Acg	p.P956T	ARID4B_ENST00000366603.2_Missense_Mutation_p.P956T|ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Missense_Mutation_p.P870T	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	956					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P956T(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GCAGGATGCGGTGGGGAAGCT	0.512																																						uc001hwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(2866-2868)CCG>ACG		AT rich interactive domain 4B isoform 1							69.0	73.0	72.0					1																	235345368		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345368G>T	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2866C>A	1.37:g.235345368G>T	ENSP00000264183:p.Pro956Thr					ARID4B_uc001hwr.2_Missense_Mutation_p.P870T|ARID4B_uc001hws.3_Missense_Mutation_p.P870T|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.P637T	p.P956T	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		20	3364	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	956					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.2866C>A	CCDS31061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.376|9.376	1.071717|1.071717	0.20147|0.20147	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000444620|ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183	.|T;T;T	.|0.26660	.|1.72;1.77;1.77	5.1|5.1	5.1|5.1	0.69264|0.69264	.|.	.|0.054101	.|0.85682	.|D	.|0.000000	T|T	0.30230|0.30230	0.0758|0.0758	N|N	0.24115|0.24115	0.695|0.695	0.47621|0.47621	D|D	0.999476|0.999476	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.996;0.999	.|D;D;D;D	.|0.87578	.|0.998;0.996;0.955;0.991	T|T	0.03259|0.03259	-1.1055|-1.1055	5|10	.|0.06236	.|T	.|0.91	-5.393|-5.393	12.0881|12.0881	0.53708|0.53708	0.0782:0.0:0.9218:0.0|0.0782:0.0:0.9218:0.0	.|.	.|637;956;870;956	.|Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39	.|.;.;.;ARI4B_HUMAN	Q|T	355|956;870;956;956	.|ENSP00000264184:P870T;ENSP00000355562:P956T;ENSP00000264183:P956T	.|ENSP00000264183:P956T	H|P	-|-	3|1	2|0	ARID4B|ARID4B	233411991|233411991	1.000000|1.000000	0.71417|0.71417	0.978000|0.978000	0.43139|0.43139	0.006000|0.006000	0.05464|0.05464	7.225000|7.225000	0.78051|0.78051	2.654000|2.654000	0.90174|0.90174	0.585000|0.585000	0.79938|0.79938	CAC|CCG		PASS	0.512	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		6	140	6	140	---	---	---	---
MTR	4548	broad.mit.edu	37	1	236998969	236998969	+	Silent	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:236998969C>T	ENST00000366577.5	+	14	1705	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S	MTR_ENST00000535889.1_Silent_p.S437S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	437	Pterin-binding. {ECO:0000255|PROSITE- ProRule:PRU00334}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.S437S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TAATTGCTTCCGAGCCAGACA	0.438																																						uc001hyi.3																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1309-1311)TCC>TCT		5-methyltetrahydrofolate-homocysteine	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						237.0	200.0	213.0					1																	236998969		2203	4300	6503	SO:0001819	synonymous_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:236998969C>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.1311C>T	1.37:g.236998969C>T						MTR_uc010pxw.1_Silent_p.S30S|MTR_uc010pxx.1_Silent_p.S437S|MTR_uc010pxy.1_Silent_p.S437S	p.S437S	NM_000254	NP_000245	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	14	1734	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	437			Pterin-binding.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Silent	SNP	ENST00000366577.5	37	c.1311C>T	CCDS1614.1																																																																																				PASS	0.438	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		25	181	25	181	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237947865	237947865	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:237947865T>G	ENST00000366574.2	+	90	13170	c.12853T>G	c.(12853-12855)Tca>Gca	p.S4285A	RYR2_ENST00000360064.6_Missense_Mutation_p.S4291A|RYR2_ENST00000542537.1_Missense_Mutation_p.S4269A|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4285					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.S4283A(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCCTTCTTTTCATCCTACTG	0.473																																						uc001hyl.1																			2	Substitution - Missense(2)		lung(2)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12853-12855)TCA>GCA		cardiac muscle ryanodine receptor							77.0	75.0	75.0					1																	237947865		1889	4121	6010	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947865T>G	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12853T>G	1.37:g.237947865T>G	ENSP00000355533:p.Ser4285Ala					RYR2_uc010pya.1_Missense_Mutation_p.S700A	p.S4285A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12973	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4285					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.12853T>G	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	12.22	1.871161	0.33069	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.96427	-0.31;-4.01;-0.31	5.11	2.72	0.32119	.	0.109437	0.36854	N	0.002362	D	0.92967	0.7762	L	0.55743	1.74	0.80722	D	1	P;P	0.46578	0.88;0.817	B;B	0.41764	0.345;0.366	D	0.88020	0.2768	10	0.19590	T	0.45	-2.8406	8.0931	0.30811	0.1395:0.0:0.1358:0.7247	.	1259;4285	B4DGV4;Q92736	.;RYR2_HUMAN	A	4285;4291;4269;1259	ENSP00000355533:S4285A;ENSP00000353174:S4291A;ENSP00000443798:S4269A	ENSP00000353174:S4291A	S	+	1	0	RYR2	236014488	0.993000	0.37304	0.133000	0.22050	0.740000	0.42216	2.781000	0.47750	0.382000	0.24878	0.533000	0.62120	TCA		PASS	0.473	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		18	29	18	29	---	---	---	---
PLD5	200150	broad.mit.edu	37	1	242511451	242511451	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr1:242511451C>A	ENST00000536534.2	-	2	524	c.283G>T	c.(283-285)Gat>Tat	p.D95Y	PLD5_ENST00000442594.2_5'UTR|PLD5_ENST00000427495.1_Missense_Mutation_p.D33Y			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	95						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.D95Y(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CCATCCTCATCCTCTCCCATG	0.458																																						uc001hzn.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(283-285)GAT>TAT		RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;							110.0	104.0	106.0					1																	242511451		2203	4298	6501	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242511451C>A	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.283G>T	1.37:g.242511451C>A	ENSP00000440896:p.Asp95Tyr					PLD5_uc001hzl.3_Missense_Mutation_p.D33Y|PLD5_uc001hzm.3_5'UTR|PLD5_uc001hzo.1_5'UTR	p.D95Y			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		2	410	-	Melanoma(84;0.242)		95					A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.283G>T	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231569	0.79688	.	.	ENSG00000180287	ENST00000427495;ENST00000536534;ENST00000459864	T;T;T	0.33438	1.41;1.41;1.41	5.12	5.12	0.69794	.	.	.	.	.	T	0.45558	0.1348	L	0.33485	1.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.42916	-0.9423	9	0.87932	D	0	.	15.6449	0.77039	0.0:1.0:0.0:0.0	.	95;33	Q8N7P1;Q8N7P1-4	PLD5_HUMAN;.	Y	33;95;33	ENSP00000401285:D33Y;ENSP00000440896:D95Y;ENSP00000438191:D33Y	ENSP00000314748:D33Y	D	-	1	0	PLD5	240578074	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.414000	0.66405	2.548000	0.85928	0.655000	0.94253	GAT		PASS	0.458	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		37	129	37	129	---	---	---	---
KCNF1	3754	broad.mit.edu	37	2	11053971	11053971	+	Silent	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:11053971C>T	ENST00000295082.1	+	1	1909	c.1419C>T	c.(1417-1419)agC>agT	p.S473S		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	473					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.S473S(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TCTCCCACAGCGACACCTTCA	0.672																																						uc002rax.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1417-1419)AGC>AGT		potassium voltage-gated channel, subfamily F,							21.0	27.0	25.0					2																	11053971		2193	4280	6473	SO:0001819	synonymous_variant	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11053971C>T	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.1419C>T	2.37:g.11053971C>T							p.S473S	NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	1909	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		473			Cytoplasmic (Potential).		O43527|Q585L3	Silent	SNP	ENST00000295082.1	37	c.1419C>T	CCDS1676.1																																																																																				PASS	0.672	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		11	64	11	64	---	---	---	---
EMILIN1	11117	broad.mit.edu	37	2	27303605	27303605	+	Missense_Mutation	SNP	G	G	A	rs554471085	byFrequency	TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:27303605G>A	ENST00000380320.4	+	3	795	c.296G>A	c.(295-297)cGc>cAc	p.R99H		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	99	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.R99H(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCAGGTACCGCCGCTTCCTC	0.622											OREG0014513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	2	0.000399361	0.0	0.0	5008	,	,		18236	0.0		0.0	False		,,,				2504	0.002					uc002rii.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(295-297)CGC>CAC		elastin microfibril interfacer 1 precursor							45.0	36.0	39.0					2																	27303605		2203	4300	6503	SO:0001583	missense	11117				cell adhesion	collagen		g.chr2:27303605G>A	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.296G>A	2.37:g.27303605G>A	ENSP00000369677:p.Arg99His		OREG0014513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	793	EMILIN1_uc010eyq.1_Missense_Mutation_p.R99H|EMILIN1_uc002rik.3_5'Flank	p.R99H	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN			3	724	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		99			EMI.		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Missense_Mutation	SNP	ENST00000380320.4	37	c.296G>A	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	G	36	5.844629	0.97016	.	.	ENSG00000138080	ENST00000380320	T	0.60548	0.18	5.97	5.97	0.96955	EMI domain (2);	0.000000	0.85682	D	0.000000	T	0.79569	0.4468	M	0.87547	2.89	0.53688	D	0.99997	D	0.89917	1.0	D	0.97110	1.0	T	0.82236	-0.0557	10	0.87932	D	0	-19.4482	15.924	0.79597	0.0:0.0:1.0:0.0	.	99	Q9Y6C2	EMIL1_HUMAN	H	99	ENSP00000369677:R99H	ENSP00000369677:R99H	R	+	2	0	EMILIN1	27157109	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.501000	0.81600	2.828000	0.97474	0.655000	0.94253	CGC		PASS	0.622	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		3	27	3	27	---	---	---	---
CCDC85A	114800	broad.mit.edu	37	2	56420240	56420240	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:56420240C>A	ENST00000407595.2	+	2	1407	c.905C>A	c.(904-906)cCc>cAc	p.P302H	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	302	His-rich.							p.P302H(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGGAGCAGCCCCGAAACGCTG	0.642																																						uc002rzn.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)	5						c.(904-906)CCC>CAC		coiled-coil domain containing 85A							60.0	75.0	70.0					2																	56420240		2050	4196	6246	SO:0001583	missense	114800							g.chr2:56420240C>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.905C>A	2.37:g.56420240C>A	ENSP00000384040:p.Pro302His						p.P302H	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		2	1407	+			302			His-rich.			Missense_Mutation	SNP	ENST00000407595.2	37	c.905C>A	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157591	0.57368	.	.	ENSG00000055813	ENST00000407595	T	0.53857	0.6	5.35	5.35	0.76521	.	0.061534	0.64402	D	0.000003	T	0.71508	0.3348	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72354	-0.4319	10	0.54805	T	0.06	-1.2037	19.0598	0.93085	0.0:1.0:0.0:0.0	.	302	Q96PX6	CC85A_HUMAN	H	302	ENSP00000384040:P302H	ENSP00000384040:P302H	P	+	2	0	CCDC85A	56273744	0.997000	0.39634	0.954000	0.39281	0.614000	0.37383	4.077000	0.57598	2.507000	0.84556	0.591000	0.81541	CCC		PASS	0.642	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			8	116	8	116	---	---	---	---
NAGK	55577	broad.mit.edu	37	2	71305540	71305540	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:71305540C>G	ENST00000244204.6	+	10	999	c.937C>G	c.(937-939)Ctg>Gtg	p.L313V	NAGK_ENST00000443938.2_Missense_Mutation_p.L309V|NAGK_ENST00000443872.2_Missense_Mutation_p.L165V|NAGK_ENST00000455662.2_Missense_Mutation_p.L359V|NAGK_ENST00000418807.3_Missense_Mutation_p.L262V			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	313					carbohydrate phosphorylation (GO:0046835)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|N-acetylglucosamine kinase activity (GO:0045127)	p.L313V(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	CTCCTCCGCTCTGGGTGGGGC	0.592																																						uc002shp.3																			1	Substitution - Missense(1)		lung(1)		0						c.(937-939)CTG>GTG		N-Acetylglucosamine kinase	N-Acetyl-D-glucosamine(DB00141)						40.0	37.0	38.0					2																	71305540		2203	4297	6500	SO:0001583	missense	55577				N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding	g.chr2:71305540C>G	AJ242910	CCDS33220.1, CCDS33220.2	2p24.3-p24.1	2008-02-05			ENSG00000124357	ENSG00000124357	2.7.1.59		17174	protein-coding gene	gene with protein product		606828				10824116	Standard	NM_017567		Approved	GNK	uc002shp.4	Q9UJ70	OTTHUMG00000153239	ENST00000244204.6:c.937C>G	2.37:g.71305540C>G	ENSP00000244204:p.Leu313Val					NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_Missense_Mutation_p.L164V|NAGK_uc002shr.2_Missense_Mutation_p.L262V	p.L313V	NM_017567	NP_060037	Q9UJ70	NAGK_HUMAN			10	1343	+			313					B4DLZ5|Q53HD5|Q6IA84|Q9BS29|Q9BVP0|Q9NV37	Missense_Mutation	SNP	ENST00000244204.6	37	c.937C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.26|11.26	1.586451|1.586451	0.28268|0.28268	.|.	.|.	ENSG00000124357|ENSG00000124357	ENST00000244204;ENST00000455662;ENST00000418807|ENST00000524537	T;T;T|.	0.47528|.	1.43;1.37;0.84|.	4.67|4.67	2.84|2.84	0.33178|0.33178	.|.	0.072899|.	0.56097|.	D|.	0.000025|.	T|T	0.44414|0.44414	0.1292|0.1292	L|L	0.39326|0.39326	1.205|1.205	0.39355|0.39355	D|D	0.965814|0.965814	B|.	0.15141|.	0.012|.	B|.	0.12156|.	0.007|.	T|T	0.28202|0.28202	-1.0051|-1.0051	10|5	0.06891|.	T|.	0.86|.	-34.6905|-34.6905	4.5395|4.5395	0.12050|0.12050	0.1734:0.6393:0.0:0.1873|0.1734:0.6393:0.0:0.1873	.|.	313|.	Q9UJ70|.	NAGK_HUMAN|.	V|C	313;359;262|77	ENSP00000244204:L313V;ENSP00000389087:L359V;ENSP00000396070:L262V|.	ENSP00000244204:L313V|.	L|S	+|+	1|2	2|0	NAGK|NAGK	71159048|71159048	0.999000|0.999000	0.42202|0.42202	0.994000|0.994000	0.49952|0.49952	0.923000|0.923000	0.55619|0.55619	1.522000|1.522000	0.35921|0.35921	0.555000|0.555000	0.29079|0.29079	0.563000|0.563000	0.77884|0.77884	CTG|TCT		PASS	0.592	NAGK-032	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471889.1			22	68	22	68	---	---	---	---
REG3A	5068	broad.mit.edu	37	2	79385540	79385540	+	Missense_Mutation	SNP	C	C	A	rs190335034		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:79385540C>A	ENST00000409839.3	-	4	281	c.245G>T	c.(244-246)gGg>gTg	p.G82V	REG3A_ENST00000393878.1_Missense_Mutation_p.G82V|REG3A_ENST00000305165.2_Missense_Mutation_p.G82V|AC011754.1_ENST00000415201.1_RNA	NM_002580.2|NM_138937.2	NP_002571.1|NP_620354.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	82	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|cell proliferation (GO:0008283)|heterophilic cell-cell adhesion (GO:0007157)|multicellular organismal development (GO:0007275)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)	p.G82V(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TCCCTCAGCCCCACTGAGCAC	0.567																																						uc002sod.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(244-246)GGG>GTG		pancreatitis-associated protein precursor							130.0	109.0	116.0					2																	79385540		2203	4300	6503	SO:0001583	missense	5068				acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	g.chr2:79385540C>A	S51768	CCDS1965.1	2p12	2008-02-05	2005-02-11	2005-02-11	ENSG00000172016	ENSG00000172016			8601	protein-coding gene	gene with protein product		167805	"""pancreatitis-associated protein"""	PAP		8188210	Standard	NM_002580		Approved	HIP, REG-III, REG3, PBCGF, PAP1	uc002sof.2	Q06141	OTTHUMG00000130017	ENST00000409839.3:c.245G>T	2.37:g.79385540C>A	ENSP00000386630:p.Gly82Val					REG3A_uc002soe.1_Missense_Mutation_p.G82V|REG3A_uc002sof.1_Missense_Mutation_p.G82V	p.G82V	NM_138938	NP_620355	Q06141	REG3A_HUMAN			3	500	-			82			C-type lectin.			Missense_Mutation	SNP	ENST00000409839.3	37	c.245G>T	CCDS1965.1	.	.	.	.	.	.	.	.	.	.	C	0.648	-0.810693	0.02798	.	.	ENSG00000172016	ENST00000409839;ENST00000393878;ENST00000305165	T;T;T	0.18810	2.19;2.19;2.19	4.02	-6.2	0.02072	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	1.253450	0.05534	N	0.564423	T	0.10766	0.0263	L	0.31207	0.915	0.09310	N	0.999996	B	0.12630	0.006	B	0.14578	0.011	T	0.29397	-1.0013	10	0.19147	T	0.46	.	1.9534	0.03371	0.1206:0.1855:0.3567:0.3372	.	82	Q06141	REG3A_HUMAN	V	82	ENSP00000386630:G82V;ENSP00000377456:G82V;ENSP00000304311:G82V	ENSP00000304311:G82V	G	-	2	0	REG3A	79239048	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.227000	0.02950	-1.480000	0.01865	-0.199000	0.12753	GGG		PASS	0.567	REG3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252290.2	NM_002580		30	73	30	73	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141707850	141707850	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:141707850G>T	ENST00000389484.3	-	20	4061	c.3090C>A	c.(3088-3090)gaC>gaA	p.D1030E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1030	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D1030E(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTCCCCACAGTCATTGTCAC	0.403										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(3088-3090)GAC>GAA		low density lipoprotein-related protein 1B							80.0	60.0	67.0					2																	141707850		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141707850G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.3090C>A	2.37:g.141707850G>T	ENSP00000374135:p.Asp1030Glu	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Missense_Mutation_p.D212E	p.D1030E	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	20	4062	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1030			Extracellular (Potential).|LDL-receptor class A 7.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.3090C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	34	5.292050	0.95546	.	.	ENSG00000168702	ENST00000389484;ENST00000544579;ENST00000434794	D;D	0.98914	-5.23;-5.23	5.59	5.59	0.84812	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.85682	U	0.000000	D	0.99251	0.9739	M	0.86502	2.82	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.98;0.994	D	0.99445	1.0939	10	0.66056	D	0.02	.	19.6119	0.95610	0.0:0.0:1.0:0.0	.	213;1030	Q96NT6;Q9NZR2	.;LRP1B_HUMAN	E	1030;968;175	ENSP00000374135:D1030E;ENSP00000413239:D175E	ENSP00000374135:D1030E	D	-	3	2	LRP1B	141424320	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.611000	0.67674	2.648000	0.89879	0.563000	0.77884	GAC		PASS	0.403	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		23	79	23	79	---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149243368	149243368	+	Nonsense_Mutation	SNP	C	C	A	rs200985982		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:149243368C>A	ENST00000407073.1	+	11	3900	c.2903C>A	c.(2902-2904)tCg>tAg	p.S968*	MBD5_ENST00000404807.1_Nonsense_Mutation_p.S1201*	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	968					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.S968*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CATCTACAGTCGCTGTTAAAC	0.378																																						uc002twm.3																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2902-2904)TCG>TAG		methyl-CpG binding domain protein 5							73.0	67.0	69.0					2																	149243368		2203	4300	6503	SO:0001587	stop_gained	55777					chromosome|nucleus	chromatin binding|DNA binding	g.chr2:149243368C>A	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2903C>A	2.37:g.149243368C>A	ENSP00000386049:p.Ser968*					MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Nonsense_Mutation_p.S968*|MBD5_uc002two.2_Nonsense_Mutation_p.S226*|MBD5_uc002twp.2_Nonsense_Mutation_p.S18*	p.S968*	NM_018328	NP_060798	Q9P267	MBD5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0569)	11	3891	+			968					A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Nonsense_Mutation	SNP	ENST00000407073.1	37	c.2903C>A	CCDS33302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	50|50	16.442663|16.442663	0.99863|0.99863	.|.	.|.	ENSG00000204406|ENSG00000204406	ENST00000416015|ENST00000407073;ENST00000404807	.|.	.|.	.|.	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	.|0.000000	.|0.52532	.|D	.|0.000061	T|.	0.47637|.	0.1456|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37663|.	-0.9696|.	3|.	.|0.02654	.|T	.|1	-3.0086|-3.0086	19.3258|19.3258	0.94261|0.94261	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	S|X	941|968;1201	.|.	.|ENSP00000384672:S1201X	R|S	+|+	1|2	0|0	MBD5|MBD5	148959838|148959838	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.677000|5.677000	0.68142|0.68142	2.579000|2.579000	0.87056|0.87056	0.591000|0.591000	0.81541|0.81541	CGC|TCG		PASS	0.378	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318111.2			8	58	8	58	---	---	---	---
GRB14	2888	broad.mit.edu	37	2	165404254	165404254	+	Missense_Mutation	SNP	C	C	G	rs550165200		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:165404254C>G	ENST00000263915.3	-	3	935	c.397G>C	c.(397-399)Gtt>Ctt	p.V133L	GRB14_ENST00000543549.1_Missense_Mutation_p.V46L	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	133	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.V133L(1)		breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						AGCTGACAAACATCTCGAGCC	0.438																																						uc002ucl.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|lung(1)	7						c.(397-399)GTT>CTT		growth factor receptor-bound protein 14							82.0	78.0	79.0					2																	165404254		2203	4300	6503	SO:0001583	missense	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165404254C>G		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.397G>C	2.37:g.165404254C>G	ENSP00000263915:p.Val133Leu					GRB14_uc010zcv.1_Missense_Mutation_p.V46L|GRB14_uc002ucm.2_RNA	p.V133L	NM_004490	NP_004481	Q14449	GRB14_HUMAN			3	938	-			133			Ras-associating.		B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	c.397G>C	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	C	0.772	-0.765411	0.02996	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413;ENST00000424693	T;T;T;T	0.33865	1.39;1.39;1.39;1.39	5.1	4.21	0.49690	Ras-association (3);	0.059461	0.64402	D	0.000004	T	0.34919	0.0914	L	0.59436	1.845	0.49687	D	0.99981	B;B	0.22541	0.071;0.018	B;B	0.29785	0.107;0.074	T	0.10064	-1.0646	10	0.18710	T	0.47	-13.3194	11.5644	0.50796	0.1405:0.7242:0.1353:0.0	.	46;133	B7Z7F9;Q14449	.;GRB14_HUMAN	L	133;46;88;75	ENSP00000263915:V133L;ENSP00000443699:V46L;ENSP00000416786:V88L;ENSP00000401702:V75L	ENSP00000263915:V133L	V	-	1	0	GRB14	165112500	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	2.228000	0.42981	1.257000	0.44085	-0.175000	0.13238	GTT		PASS	0.438	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2			9	48	9	48	---	---	---	---
MYO3B	140469	broad.mit.edu	37	2	171238525	171238525	+	Splice_Site	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:171238525G>A	ENST00000408978.4	+	10	1114		c.e10-1		MYO3B_ENST00000602629.1_Splice_Site|MYO3B_ENST00000409044.3_Splice_Site|MYO3B_ENST00000334231.6_Splice_Site	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB						peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.?(2)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TAAATTTCTAGGCATGAGAGG	0.408																																						uc002ufy.2																			2	Unknown(2)		lung(2)	lung(8)|ovary(6)|skin(4)|central_nervous_system(1)	19						c.e10-1		myosin IIIB isoform 2							123.0	115.0	117.0					2																	171238525		1907	4121	6028	SO:0001630	splice_region_variant	140469				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity	g.chr2:171238525G>A		CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.972-1G>A	2.37:g.171238525G>A						MYO3B_uc002ufv.2_Splice_Site_p.R311_splice|MYO3B_uc010fqb.1_Splice_Site_p.R311_splice|MYO3B_uc002ufz.2_Splice_Site_p.R324_splice|MYO3B_uc002ufw.2_Splice_Site|MYO3B_uc002ufx.2_Splice_Site|MYO3B_uc002uga.2_Splice_Site_p.R311_splice|MYO3B_uc002ugb.2_Splice_Site	p.R324_splice	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN			10	1115	+								B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Splice_Site	SNP	ENST00000408978.4	37	c.972_splice	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463699	0.84425	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231;ENST00000442690	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO3B	170946771	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	8.647000	0.91057	2.833000	0.97629	0.585000	0.79938	.		PASS	0.408	MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		Intron	21	101	21	101	---	---	---	---
OSBPL6	114880	broad.mit.edu	37	2	179259114	179259114	+	Missense_Mutation	SNP	G	G	T	rs367905415		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:179259114G>T	ENST00000190611.4	+	24	3024	c.2648G>T	c.(2647-2649)aGa>aTa	p.R883I	OSBPL6_ENST00000359685.3_Missense_Mutation_p.R847I|OSBPL6_ENST00000315022.2_Missense_Mutation_p.R887I|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R852I|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R847I|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R908I	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	883					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.R908I(1)|p.R883I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGATCTCGGAGACGATATATG	0.358																																						uc002ulx.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(2647-2649)AGA>ATA		oxysterol-binding protein-like protein 6 isoform							109.0	122.0	117.0					2																	179259114		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179259114G>T	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2648G>T	2.37:g.179259114G>T	ENSP00000190611:p.Arg883Ile					OSBPL6_uc002uly.2_Missense_Mutation_p.R908I|OSBPL6_uc010zfe.1_Missense_Mutation_p.R852I|OSBPL6_uc002ulz.2_Missense_Mutation_p.R847I|OSBPL6_uc002uma.2_Missense_Mutation_p.R887I	p.R883I	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		24	3026	+			883					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.2648G>T	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	34	5.311829	0.95655	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11;1.11	6.07	6.07	0.98685	.	0.079368	0.85682	D	0.000000	T	0.81044	0.4741	H	0.98802	4.335	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.998	D;D;D;D;D	0.91635	0.996;0.992;0.999;0.998;0.981	D	0.87741	0.2585	10	0.87932	D	0	-20.1441	20.6525	0.99598	0.0:0.0:1.0:0.0	.	852;887;847;908;883	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	I	908;847;852;883;847;887	ENSP00000376293:R908I;ENSP00000352713:R847I;ENSP00000387248:R852I;ENSP00000190611:R883I;ENSP00000386885:R847I;ENSP00000318723:R887I	ENSP00000190611:R883I	R	+	2	0	OSBPL6	178967360	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.254000	0.78329	2.890000	0.99128	0.585000	0.79938	AGA		PASS	0.358	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523		56	200	56	200	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179431458	179431458	+	Silent	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:179431458A>G	ENST00000591111.1	-	276	74702	c.74478T>C	c.(74476-74478)gcT>gcC	p.A24826A	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.A17527A|TTN_ENST00000460472.2_Silent_p.A17402A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.A17594A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Silent_p.A26467A|TTN_ENST00000342992.6_Silent_p.A23899A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24826	Fibronectin type-III 80. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.A23899A(1)|p.A17402A(1)|p.A23897A(1)|p.A17527A(1)|p.A17594A(1)		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)			CCCCAACTCCAGCAGCATTTT	0.428																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	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.(71695-71697)GCT>GCC		titin isoform N2-A							116.0	119.0	118.0					2																	179431458		1836	4089	5925	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179431458A>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.74478T>C	2.37:g.179431458A>G						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A17594A|TTN_uc010zfi.1_Silent_p.A17527A|TTN_uc010zfj.1_Silent_p.A17402A	p.A23899A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	71921	-			24826					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.71697T>C																																																																																					PASS	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		67	206	67	206	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179437396	179437396	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:179437396T>C	ENST00000591111.1	-	276	68764	c.68540A>G	c.(68539-68541)aAt>aGt	p.N22847S	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N15548S|TTN_ENST00000460472.2_Missense_Mutation_p.N15423S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N15615S|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N24488S|TTN_ENST00000342992.6_Missense_Mutation_p.N21920S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22847	Ig-like 117.				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.N15615S(1)|p.N21920S(1)|p.N21918S(1)|p.N15548S(1)|p.N15423S(1)		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)			TCTGTTTACATTTCCAACAAT	0.438																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	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.(65758-65760)AAT>AGT		titin isoform N2-A							81.0	83.0	82.0					2																	179437396		1883	4105	5988	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179437396T>C	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.68540A>G	2.37:g.179437396T>C	ENSP00000465570:p.Asn22847Ser					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N15615S|TTN_uc010zfi.1_Missense_Mutation_p.N15548S|TTN_uc010zfj.1_Missense_Mutation_p.N15423S	p.N21920S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	65983	-			22847					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.65759A>G		.	.	.	.	.	.	.	.	.	.	T	13.06	2.124211	0.37533	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.9	5.9	0.94986	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65144	0.2663	M	0.72624	2.21	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.68360	-0.5429	9	0.87932	D	0	.	16.3275	0.82990	0.0:0.0:0.0:1.0	.	15423;15548;15615;22847	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	21920;15423;15615;15548;15421	ENSP00000343764:N21920S;ENSP00000434586:N15423S;ENSP00000340554:N15615S;ENSP00000352154:N15548S	ENSP00000340554:N15615S	N	-	2	0	TTN	179145642	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.040000	0.89188	2.266000	0.75297	0.528000	0.53228	AAT		PASS	0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	218	3	218	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179667009	179667009	+	Missense_Mutation	SNP	G	G	C	rs397517489		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:179667009G>C	ENST00000591111.1	-	3	375	c.151C>G	c.(151-153)Ctg>Gtg	p.L51V	TTN_ENST00000359218.5_Missense_Mutation_p.L51V|TTN_ENST00000460472.2_Missense_Mutation_p.L51V|TTN_ENST00000342175.6_Missense_Mutation_p.L51V|TTN_ENST00000360870.5_Missense_Mutation_p.L51V|TTN_ENST00000589042.1_Missense_Mutation_p.L51V|TTN_ENST00000342992.6_Missense_Mutation_p.L51V			Q8WZ42	TITIN_HUMAN	titin	32662	Ig-like 1.				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.L51V(6)		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)			ACGCCGGGCAGAGTGGAAGTG	0.517																																						uc002und.2																			6	Substitution - Missense(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.(151-153)CTG>GTG		Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.							93.0	80.0	84.0					2																	179667009		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179667009G>C	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.151C>G	2.37:g.179667009G>C	ENSP00000465570:p.Leu51Val					TTN_uc010zfg.1_Missense_Mutation_p.L51V|TTN_uc010zfh.1_Missense_Mutation_p.L51V|TTN_uc010zfi.1_Missense_Mutation_p.L51V|TTN_uc010zfj.1_Missense_Mutation_p.L51V|TTN_uc002unb.2_Missense_Mutation_p.L51V	p.L51V			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		3	376	-			51					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.151C>G		.	.	.	.	.	.	.	.	.	.	G	14.12	2.440810	0.43326	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74831	0.3768	N	0.25201	0.72	0.26701	N	0.971157	D;D;D;D;D	0.76494	0.996;0.996;0.996;0.996;0.999	D;D;D;D;D	0.85130	0.997;0.997;0.997;0.997;0.996	T	0.70777	-0.4780	9	0.87932	D	0	.	19.9189	0.97077	0.0:0.0:1.0:0.0	.	51;51;51;51;51	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	V	51	ENSP00000343764:L51V;ENSP00000434586:L51V;ENSP00000340554:L51V;ENSP00000352154:L51V;ENSP00000354117:L51V	ENSP00000340554:L51V	L	-	1	2	TTN	179375254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.398000	0.73244	2.707000	0.92482	0.655000	0.94253	CTG		PASS	0.517	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	101	4	101	---	---	---	---
CERKL	375298	broad.mit.edu	37	2	182430786	182430786	+	Splice_Site	SNP	C	C	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:182430786C>G	ENST00000339098.5	-	4	675	c.676G>C	c.(676-678)Ggt>Cgt	p.G226R	CERKL_ENST00000374969.2_Intron|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374970.2_Intron|CERKL_ENST00000409440.3_Splice_Site_p.G182R|CERKL_ENST00000410087.3_Splice_Site_p.G226R			Q49MI3	CERKL_HUMAN	ceramide kinase-like	226	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.G226R(2)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATAACCTACCCATCAAATCCC	0.308																																						uc002unx.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|kidney(1)|skin(1)	4						c.(676-678)GGT>CGT		ceramide kinase-like isoform b							77.0	72.0	73.0					2																	182430786		1815	4091	5906	SO:0001630	splice_region_variant	375298				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus	diacylglycerol kinase activity	g.chr2:182430786C>G	BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.677+1G>C	2.37:g.182430786C>G						CERKL_uc002uny.2_Missense_Mutation_p.G226R|CERKL_uc010zfm.1_Missense_Mutation_p.G182R|CERKL_uc002unz.2_Intron|CERKL_uc002uoa.2_Intron|CERKL_uc002uob.2_Intron|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_Intron|CERKL_uc002uod.1_Missense_Mutation_p.G21R|CERKL_uc002uoe.2_Missense_Mutation_p.G226R	p.G226R	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		4	777	-			226			DAGKc.		B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	c.676G>C	CCDS42789.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425434	0.83667	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000339098	T;T;T	0.31769	2.64;1.69;1.48	5.66	5.66	0.87406	Diacylglycerol kinase, catalytic domain (2);	0.056593	0.64402	D	0.000001	T	0.39545	0.1082	N	0.05414	-0.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	T	0.51949	-0.8640	10	0.87932	D	0	.	20.1041	0.97884	0.0:1.0:0.0:0.0	.	182;226;226	B4DEY1;Q49MI3-2;Q49MI3	.;.;CERKL_HUMAN	R	226;182;226	ENSP00000386725:G226R;ENSP00000387080:G182R;ENSP00000341159:G226R	ENSP00000341159:G226R	G	-	1	0	CERKL	182139031	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.013000	0.70776	2.826000	0.97356	0.655000	0.94253	GGT		PASS	0.308	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1		Missense_Mutation	3	111	3	111	---	---	---	---
NCKAP1	10787	broad.mit.edu	37	2	183866998	183866998	+	Splice_Site	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:183866998C>T	ENST00000361354.4	-	5	742		c.e5-1		NCKAP1_ENST00000360982.2_Splice_Site	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.?(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AGTTTACAGTCTAGGAGAAAA	0.284																																						uc002upc.2																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e5-1		NCK-associated protein 1 isoform 1							40.0	43.0	42.0					2																	183866998		2193	4296	6489	SO:0001630	splice_region_variant	10787				apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding	g.chr2:183866998C>T	AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.370-1G>A	2.37:g.183866998C>T						NCKAP1_uc002upb.2_Splice_Site_p.T130_splice	p.T124_splice	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		5	772	-								O60329|Q53QN5|Q53S94|Q53Y35	Splice_Site	SNP	ENST00000361354.4	37	c.370_splice	CCDS2287.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889686	0.72524	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5522	0.95324	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCKAP1	183575243	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.665000	0.83852	2.689000	0.91719	0.655000	0.94253	.		PASS	0.284	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842	Intron	7	64	7	64	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187455140	187455140	+	Silent	SNP	A	A	G	rs144478131		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:187455140A>G	ENST00000261023.3	+	1	349	c.75A>G	c.(73-75)ctA>ctG	p.L25L	ITGAV_ENST00000374907.3_Silent_p.L25L	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	25					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)	p.L25L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GACTCCTGCTACCTCTGTGCC	0.667																																					Melanoma(58;108 1995 6081)	uc002upq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)|skin(1)	4						c.(73-75)CTA>CTG		integrin alpha-V isoform 1 precursor		A	,	1,4405	2.1+/-5.4	0,1,2202	34.0	39.0	37.0		75,75	0.8	1.0	2	dbSNP_134	37	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ITGAV	NM_001145000.1,NM_002210.3	,	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	,	25/1013,25/1049	187455140	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187455140A>G		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.75A>G	2.37:g.187455140A>G						ITGAV_uc010frs.2_Silent_p.L25L	p.L25L	NM_002210	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	1	351	+			25					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	37	c.75A>G	CCDS2292.1																																																																																				PASS	0.667	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		12	68	12	68	---	---	---	---
MARS2	92935	broad.mit.edu	37	2	198570870	198570870	+	Silent	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:198570870C>T	ENST00000282276.6	+	1	784	c.741C>T	c.(739-741)gaC>gaT	p.D247D	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	247					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)	p.D247D(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	AGTGGCTGGACGAGGAGCTGC	0.612																																						uc002uuq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(739-741)GAC>GAT		methionine-tRNA synthetase 2 precursor	L-Methionine(DB00134)						43.0	46.0	45.0					2																	198570870		2203	4300	6503	SO:0001819	synonymous_variant	92935				methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	g.chr2:198570870C>T	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.741C>T	2.37:g.198570870C>T						uc002uup.2_Intron	p.D247D	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN			1	784	+			247					A0AVC3|Q76E79|Q8IW62|Q8N7N4	Silent	SNP	ENST00000282276.6	37	c.741C>T	CCDS33358.1																																																																																				PASS	0.612	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335477.1	NM_138395		5	114	5	114	---	---	---	---
SPATS2L	26010	broad.mit.edu	37	2	201305442	201305442	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:201305442G>C	ENST00000358677.5	+	8	970	c.723G>C	c.(721-723)atG>atC	p.M241I	SPATS2L_ENST00000409385.1_Missense_Mutation_p.M181I|SPATS2L_ENST00000409718.1_Missense_Mutation_p.M241I|SPATS2L_ENST00000451764.2_Missense_Mutation_p.M241I|SPATS2L_ENST00000360760.5_Missense_Mutation_p.M172I|SPATS2L_ENST00000409755.3_Missense_Mutation_p.M271I|SPATS2L_ENST00000409140.3_Missense_Mutation_p.M241I|SPATS2L_ENST00000409151.1_Missense_Mutation_p.M249I|SPATS2L_ENST00000409988.3_Missense_Mutation_p.M241I	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like	241						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)	p.M241I(1)|p.M271I(1)		endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						ATCGCGTCATGATTAAGGAAG	0.373																																						uc002uvn.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(721-723)ATG>ATC		SPATS2-like protein isoform a							98.0	93.0	95.0					2																	201305442		1914	4123	6037	SO:0001583	missense	26010					cytoplasm|nucleolus		g.chr2:201305442G>C	AF193059	CCDS46483.1, CCDS46484.1, CCDS74621.1, CCDS74622.1	2q33.1	2009-06-12			ENSG00000196141	ENSG00000196141			24574	protein-coding gene	gene with protein product	"""DNA polymerase transactivated protein 6"""	613817				11230166	Standard	NM_001100422		Approved	DNAPTP6	uc002uvr.4	Q9NUQ6	OTTHUMG00000154589	ENST00000358677.5:c.723G>C	2.37:g.201305442G>C	ENSP00000351503:p.Met241Ile					SPATS2L_uc010fst.2_Missense_Mutation_p.M241I|SPATS2L_uc002uvo.3_Missense_Mutation_p.M181I|SPATS2L_uc002uvp.3_Missense_Mutation_p.M241I|SPATS2L_uc002uvq.3_Missense_Mutation_p.M172I|SPATS2L_uc002uvr.3_Missense_Mutation_p.M241I|SPATS2L_uc010zhc.1_Missense_Mutation_p.M271I	p.M241I	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN			8	1075	+			241					A8K381|B4DRE6|B4DT67|B7WNZ7|Q53T22|Q8WV53|Q8WYG1|Q9NTW4	Missense_Mutation	SNP	ENST00000358677.5	37	c.723G>C	CCDS46483.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.682278|4.682278	0.88542|0.88542	.|.	.|.	ENSG00000196141|ENSG00000196141	ENST00000409718;ENST00000358677;ENST00000409988;ENST00000409385;ENST00000451764;ENST00000360760;ENST00000453663;ENST00000409140;ENST00000409397;ENST00000409755;ENST00000409151;ENST00000449647;ENST00000438761|ENST00000366118	.|.	.|.	.|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.58750|.	0.2144|.	N|N	0.25647|0.25647	0.755|0.755	0.58432|0.58432	D|D	0.999996|0.999996	D;B;P|.	0.54964|.	0.969;0.428;0.951|.	D;B;P|.	0.70227|.	0.968;0.216;0.86|.	T|.	0.49466|.	-0.8937|.	9|.	0.48119|.	T|.	0.1|.	-22.8503|-22.8503	20.5568|20.5568	0.99304|0.99304	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	271;172;241|.	B4DT67;Q9NUQ6-2;Q9NUQ6|.	.;.;SPS2L_HUMAN|.	I|S	241;241;241;181;241;172;172;241;172;271;249;172;167|24	.|.	ENSP00000351503:M241I|.	M|X	+|+	3|2	0|2	SPATS2L|SPATS2L	201013687|201013687	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.509000|8.509000	0.90529|0.90529	2.861000|2.861000	0.98227|0.98227	0.655000|0.655000	0.94253|0.94253	ATG|TGA		PASS	0.373	SPATS2L-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336208.3	NM_015535		3	159	3	159	---	---	---	---
NIF3L1	60491	broad.mit.edu	37	2	201756740	201756740	+	Missense_Mutation	SNP	G	G	A	rs79840632	byFrequency	TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:201756740G>A	ENST00000409020.1	+	2	368	c.74G>A	c.(73-75)cGt>cAt	p.R25H	PPIL3_ENST00000465823.1_5'Flank|PPIL3_ENST00000286175.8_5'Flank|NIF3L1_ENST00000359683.4_5'UTR|NIF3L1_ENST00000416651.1_Missense_Mutation_p.R25H|PPIL3_ENST00000392283.4_5'Flank|NIF3L1_ENST00000409357.1_Missense_Mutation_p.R25H|PPIL3_ENST00000409361.1_5'Flank|PPIL3_ENST00000409449.1_5'Flank|NIF3L1_ENST00000409588.1_Missense_Mutation_p.R25H			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	25					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)	p.R25H(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						AATTCTTCCCGTTCCTTCATG	0.463													G|||	4	0.000798722	0.0	0.0	5008	,	,		22633	0.004		0.0	False		,,,				2504	0.0					uc002uwm.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(73-75)CGT>CAT		NIF3 NGG1 interacting factor 3-like 1 isoform 1							98.0	92.0	94.0					2																	201756740		1964	4141	6105	SO:0001583	missense	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201756740G>A	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.74G>A	2.37:g.201756740G>A	ENSP00000386394:p.Arg25His					PPIL3_uc002uwh.2_5'Flank|PPIL3_uc002uwi.2_5'Flank|PPIL3_uc002uwj.2_5'Flank|PPIL3_uc002uwk.2_5'Flank|NIF3L1_uc002uwl.2_5'UTR|NIF3L1_uc002uwn.2_5'UTR|NIF3L1_uc002uwo.2_Missense_Mutation_p.R25H|NIF3L1_uc002uwp.2_Missense_Mutation_p.R25H|NIF3L1_uc002uwq.2_Missense_Mutation_p.R25H	p.R25H	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN			2	165	+			25					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Missense_Mutation	SNP	ENST00000409020.1	37	c.74G>A	CCDS46485.1	4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	G	14.67	2.604771	0.46423	.	.	ENSG00000196290	ENST00000416651;ENST00000454952;ENST00000409020;ENST00000409357;ENST00000374679;ENST00000409588	T;T;T	0.47869	0.83;0.83;0.83	5.14	2.35	0.29111	.	.	.	.	.	T	0.24509	0.0594	N	0.20986	0.625	0.23649	N	0.997202	B;B	0.17667	0.023;0.004	B;B	0.08055	0.003;0.002	T	0.17592	-1.0364	9	0.52906	T	0.07	-1.0E-4	8.1509	0.31141	0.1457:0.1303:0.724:0.0	.	25;25	Q6X735;Q9GZT8	.;NIF3L_HUMAN	H	25	ENSP00000400787:R25H;ENSP00000386394:R25H;ENSP00000387315:R25H	ENSP00000363811:R25H	R	+	2	0	NIF3L1	201464985	0.997000	0.39634	0.654000	0.29608	0.836000	0.47400	2.314000	0.43743	0.195000	0.20347	0.455000	0.32223	CGT		PASS	0.463	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	NM_021824		6	146	6	146	---	---	---	---
TRAK2	66008	broad.mit.edu	37	2	202259537	202259537	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:202259537C>T	ENST00000332624.3	-	9	1387	c.959G>A	c.(958-960)cGg>cAg	p.R320Q		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	320	HAP1 N-terminal.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)	p.R320Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TGTCAGTTGCCGTTGGGCATC	0.363																																						uc002uyb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(958-960)CGG>CAG		trafficking protein, kinesin binding 2							114.0	101.0	106.0					2																	202259537		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202259537C>T	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.959G>A	2.37:g.202259537C>T	ENSP00000328875:p.Arg320Gln						p.R320Q	NM_015049	NP_055864	O60296	TRAK2_HUMAN			9	1405	-			320	Missing (in Ref. 2).		Potential.		E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.959G>A	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.843607	0.91197	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.18960	2.18	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.42223	0.1193	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.05632	-1.0873	10	0.39692	T	0.17	.	19.423	0.94729	0.0:1.0:0.0:0.0	.	320	O60296	TRAK2_HUMAN	Q	320;226	ENSP00000328875:R320Q	ENSP00000328875:R320Q	R	-	2	0	TRAK2	201967782	1.000000	0.71417	0.954000	0.39281	0.753000	0.42808	7.463000	0.80869	2.573000	0.86826	0.557000	0.71058	CGG		PASS	0.363	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		4	153	4	153	---	---	---	---
STRADB	55437	broad.mit.edu	37	2	202334695	202334695	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:202334695C>T	ENST00000194530.3	+	4	478	c.113C>T	c.(112-114)tCc>tTc	p.S38F	STRADB_ENST00000392249.2_Missense_Mutation_p.S38F	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	38					activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.S38F(1)		breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						CCAACCCTTTCCTGGTCACGT	0.388																																						uc002uyd.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|stomach(1)|lung(1)	4						c.(112-114)TCC>TTC		STE20-related kinase adaptor beta							80.0	72.0	75.0					2																	202334695		2203	4300	6503	SO:0001583	missense	55437				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	g.chr2:202334695C>T	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.113C>T	2.37:g.202334695C>T	ENSP00000194530:p.Ser38Phe						p.S38F	NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN			4	478	+			38					Q5BKY7|Q9P1L0	Missense_Mutation	SNP	ENST00000194530.3	37	c.113C>T	CCDS2348.1	.	.	.	.	.	.	.	.	.	.	C	8.792	0.930694	0.18131	.	.	ENSG00000082146	ENST00000194530;ENST00000539670;ENST00000392249	T;T	0.62941	0.01;-0.01	5.55	3.69	0.42338	Protein kinase-like domain (1);	0.308611	0.36815	N	0.002394	T	0.51193	0.1660	L	0.27053	0.805	0.25330	N	0.98905	B	0.20550	0.046	B	0.23852	0.049	T	0.50499	-0.8821	10	0.87932	D	0	.	14.5907	0.68362	0.0:0.7238:0.2761:0.0	.	38	Q9C0K7	STRAB_HUMAN	F	38	ENSP00000194530:S38F;ENSP00000376080:S38F	ENSP00000194530:S38F	S	+	2	0	STRADB	202042940	1.000000	0.71417	0.432000	0.26747	0.085000	0.17905	1.775000	0.38584	0.632000	0.30432	0.655000	0.94253	TCC		PASS	0.388	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		17	117	17	117	---	---	---	---
RHBDD1	84236	broad.mit.edu	37	2	227779053	227779053	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:227779053G>T	ENST00000341329.3	+	6	1084	c.842G>T	c.(841-843)aGc>aTc	p.S281I	RHBDD1_ENST00000493526.1_3'UTR|RHBDD1_ENST00000409053.1_Missense_Mutation_p.S115I|RHBDD1_ENST00000392062.2_Missense_Mutation_p.S281I	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	281	Ubiquitin-binding domain (UBD). {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.S281I(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TTACAAGCCAGCCTCTGGGAC	0.463																																						uc002voi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(841-843)AGC>ATC		rhomboid domain containing 1							69.0	73.0	72.0					2																	227779053		2203	4300	6503	SO:0001583	missense	84236					integral to membrane	serine-type endopeptidase activity	g.chr2:227779053G>T	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.842G>T	2.37:g.227779053G>T	ENSP00000344779:p.Ser281Ile					RHBDD1_uc010fxc.2_Missense_Mutation_p.S281I|RHBDD1_uc002voj.2_Missense_Mutation_p.S112I	p.S281I	NM_032276	NP_115652	Q8TEB9	RHBD1_HUMAN		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)	6	963	+		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	281					Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Missense_Mutation	SNP	ENST00000341329.3	37	c.842G>T	CCDS2464.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.892250	0.72524	.	.	ENSG00000144468	ENST00000341329;ENST00000392062;ENST00000409053	T;T	0.55760	0.5;0.5	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.73776	0.3630	M	0.78801	2.425	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75625	-0.3253	10	0.87932	D	0	-29.256	16.1398	0.81515	0.0:0.0:1.0:0.0	.	72;281	Q8TEB9-2;Q8TEB9	.;RHBD1_HUMAN	I	281;281;115	ENSP00000344779:S281I;ENSP00000375914:S281I	ENSP00000344779:S281I	S	+	2	0	RHBDD1	227487297	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	5.800000	0.69108	2.880000	0.98712	0.650000	0.86243	AGC		PASS	0.463	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			28	11	28	11	---	---	---	---
SP110	3431	broad.mit.edu	37	2	231077723	231077723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:231077723C>T	ENST00000358662.4	-	4	414	c.336G>A	c.(334-336)tgG>tgA	p.W112*	SP110_ENST00000486146.2_5'Flank|SP110_ENST00000258382.5_Nonsense_Mutation_p.W112*|SP110_ENST00000392048.3_Nonsense_Mutation_p.W112*|SP110_ENST00000258381.6_Nonsense_Mutation_p.W112*|SP110_ENST00000540870.1_Nonsense_Mutation_p.W118*|SP110_ENST00000338556.3_5'UTR	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	112			W -> R (in dbSNP:rs1129411). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:16803959}.		regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.W112*(1)		breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CTCTGCTCTGCCATTCATAGG	0.537																																						uc002vqh.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(2)	4						c.(334-336)CGG>CGA		SP110 nuclear body protein isoform a							69.0	68.0	68.0					2																	231077723		2203	4300	6503	SO:0001587	stop_gained	3431				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr2:231077723C>T	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.336G>A	2.37:g.231077723C>T	ENSP00000351488:p.Trp112*					SP110_uc002vqg.3_Silent_p.R112R|SP110_uc002vqi.3_Silent_p.R112R|SP110_uc010fxk.2_Nonsense_Mutation_p.W112*	p.R112R	NM_004509	NP_004500	Q9HB58	SP110_HUMAN		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)	4	576	-		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)	112					B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Silent	SNP	ENST00000358662.4	37	c.336G>A	CCDS2474.1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981187	0.53827	.	.	ENSG00000135899	ENST00000258381;ENST00000358662;ENST00000392048;ENST00000258382;ENST00000540870;ENST00000409815;ENST00000455674	.	.	.	4.26	-6.82	0.01698	.	1.976990	0.03425	N	0.206874	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	.	6.651	0.22961	0.0:0.1837:0.3495:0.4668	.	.	.	.	X	112;112;112;112;118;112;66	.	ENSP00000258381:W112X	W	-	3	0	SP110	230785967	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.830000	0.04410	-1.592000	0.01619	-0.145000	0.13849	TGG		PASS	0.537	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424		9	78	9	78	---	---	---	---
CAPN10	11132	broad.mit.edu	37	2	241531369	241531369	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr2:241531369C>A	ENST00000391984.2	+	4	686	c.490C>A	c.(490-492)Cac>Aac	p.H164N	CAPN10_ENST00000404753.3_Missense_Mutation_p.H164N|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000391982.2_Missense_Mutation_p.H164N|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.H164N	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	164	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				actin cytoskeleton reorganization (GO:0031532)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to insulin stimulus (GO:0032869)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin secretion (GO:0032024)|positive regulation of intracellular transport (GO:0032388)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteolysis (GO:0006508)|type B pancreatic cell apoptotic process (GO:0097050)	cell (GO:0005623)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cytoskeletal protein binding (GO:0008092)|SNARE binding (GO:0000149)	p.H164N(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GTCCTACGAGCACCTGTGGGC	0.637																																						uc002vzk.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|large_intestine(2)|lung(1)	6						c.(490-492)CAC>AAC		calpain 10 isoform a							35.0	41.0	39.0					2																	241531369		2202	4299	6501	SO:0001583	missense	11132				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding	g.chr2:241531369C>A	AF089088	CCDS33420.1, CCDS42838.1	2q37.3	2008-05-22			ENSG00000142330	ENSG00000142330			1477	protein-coding gene	gene with protein product		605286				11017071, 11018080	Standard	NM_023083		Approved		uc002vzk.2	Q9HC96	OTTHUMG00000133358	ENST00000391984.2:c.490C>A	2.37:g.241531369C>A	ENSP00000375844:p.His164Asn					CAPN10_uc010zoh.1_Missense_Mutation_p.H164N|CAPN10_uc002vzl.1_Missense_Mutation_p.H164N|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.H36N|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron	p.H164N	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)	4	674	+		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	164			Calpain catalytic.		A8MVS7|Q4ZFV1|Q8NCD4|Q96IG4|Q96JI2|Q9HC89|Q9HC90|Q9HC91|Q9HC92|Q9HC93|Q9HC94|Q9HC95	Missense_Mutation	SNP	ENST00000391984.2	37	c.490C>A	CCDS42838.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.546312	0.45383	.	.	ENSG00000142330	ENST00000391984;ENST00000391982;ENST00000404753;ENST00000354082;ENST00000432084	D;D;D;D;T	0.87334	-2.24;-2.24;-2.24;-2.24;1.13	4.37	4.37	0.52481	Peptidase C2, calpain, catalytic domain (3);	0.518222	0.20415	N	0.092788	D	0.82531	0.5057	L	0.33710	1.025	0.35995	D	0.836987	P;P;P;P	0.41080	0.737;0.737;0.692;0.605	B;B;B;B	0.43508	0.422;0.331;0.366;0.3	D	0.86844	0.2019	10	0.72032	D	0.01	.	10.4942	0.44768	0.0:0.8019:0.1981:0.0	.	164;164;164;164	B7Z6G3;B7WPF5;Q9HC96-3;Q9HC96	.;.;.;CAN10_HUMAN	N	164;164;164;164;8	ENSP00000375844:H164N;ENSP00000375842:H164N;ENSP00000384422:H164N;ENSP00000270362:H164N;ENSP00000407090:H8N	ENSP00000270362:H164N	H	+	1	0	CAPN10	241180042	0.959000	0.32827	0.919000	0.36401	0.552000	0.35366	1.812000	0.38952	1.986000	0.57962	0.655000	0.94253	CAC		PASS	0.637	CAPN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257191.3	NM_023083		12	14	12	14	---	---	---	---
BRPF1	7862	broad.mit.edu	37	3	9788857	9788857	+	Silent	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:9788857C>T	ENST00000457855.1	+	13	3480	c.3469C>T	c.(3469-3471)Ctg>Ttg	p.L1157L	OGG1_ENST00000349503.5_5'Flank|OGG1_ENST00000302003.7_5'Flank|OGG1_ENST00000302036.7_5'Flank|OGG1_ENST00000302008.8_5'Flank|BRPF1_ENST00000433861.2_Silent_p.L1062L|BRPF1_ENST00000424362.1_Silent_p.L1156L|BRPF1_ENST00000383829.2_Silent_p.L1163L|OGG1_ENST00000339511.5_5'Flank|OGG1_ENST00000344629.7_5'Flank|OGG1_ENST00000383826.5_5'Flank|BRPF1_ENST00000302054.3_Silent_p.L1157L|OGG1_ENST00000449570.2_5'Flank			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1157	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L1163L(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TAGGCAGTGGCTGCCCAGGAC	0.517																																						uc003bse.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(3469-3471)CTG>TTG		bromodomain and PHD finger-containing protein 1							139.0	138.0	138.0					3																	9788857		2203	4299	6502	SO:0001819	synonymous_variant	7862				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding	g.chr3:9788857C>T	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.3469C>T	3.37:g.9788857C>T						BRPF1_uc003bsf.2_Silent_p.L1163L|BRPF1_uc003bsg.2_Silent_p.L1156L|BRPF1_uc011ati.1_Silent_p.L1062L|OGG1_uc003bsh.2_5'Flank|OGG1_uc003bsi.2_5'Flank|OGG1_uc003bsj.2_5'Flank|OGG1_uc003bsk.2_5'Flank|OGG1_uc003bsl.2_5'Flank|OGG1_uc003bsm.2_5'Flank|OGG1_uc003bsn.2_5'Flank|OGG1_uc003bso.2_5'Flank	p.L1157L	NM_004634	NP_004625	P55201	BRPF1_HUMAN			14	3868	+	Medulloblastoma(99;0.227)		1157			PWWP.		B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Silent	SNP	ENST00000457855.1	37	c.3469C>T	CCDS2575.1																																																																																				PASS	0.517	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694		22	208	22	208	---	---	---	---
DAZL	1618	broad.mit.edu	37	3	16636046	16636046	+	Silent	SNP	T	T	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:16636046T>A	ENST00000399444.2	-	8	908	c.615A>T	c.(613-615)gtA>gtT	p.V205V	DAZL_ENST00000250863.8_Silent_p.V225V	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	205					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.V205V(1)	RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						TTACCGGAGGTACAACATAGC	0.299																																						uc003cbb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(613-615)GTA>GTT		deleted in azoospermia-like							41.0	43.0	43.0					3																	16636046		2133	4269	6402	SO:0001819	synonymous_variant	1618				germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr3:16636046T>A	BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"""RNA binding motif (RRM) containing"""	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.615A>T	3.37:g.16636046T>A						DAZL_uc003cba.2_Silent_p.V225V	p.V205V	NM_001351	NP_001342	Q92904	DAZL_HUMAN			8	909	-			205					O15396|Q5HYB4|Q92909	Silent	SNP	ENST00000399444.2	37	c.615A>T	CCDS43059.1																																																																																				PASS	0.299	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347261.2	NM_001351		15	19	15	19	---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19436644	19436644	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:19436644C>T	ENST00000328405.2	+	7	1284	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C	KCNH8_ENST00000537696.1_5'UTR|KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	340					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)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.R340C(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCGTCTTTTGCGTCTGCTGCA	0.488																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(1)	5						c.(1018-1020)CGT>TGT		potassium voltage-gated channel, subfamily H,							196.0	162.0	174.0					3																	19436644		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19436644C>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1018C>T	3.37:g.19436644C>T	ENSP00000328813:p.Arg340Cys					KCNH8_uc011awe.1_Missense_Mutation_p.R340C|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_5'UTR	p.R340C	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			7	1213	+			340			Helical; Voltage-sensor; Name=Segment S4; (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.1018C>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672024	0.88348	.	.	ENSG00000183960	ENST00000328405	D	0.99523	-6.08	5.78	5.78	0.91487	Ion transport (1);	0.000000	0.32416	U	0.006131	D	0.99722	0.9892	H	0.95679	3.705	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.97601	1.0123	9	.	.	.	.	20.0118	0.97458	0.0:1.0:0.0:0.0	.	340;340	B7Z398;Q96L42	.;KCNH8_HUMAN	C	340	ENSP00000328813:R340C	.	R	+	1	0	KCNH8	19411648	1.000000	0.71417	0.999000	0.59377	0.789000	0.44602	4.787000	0.62432	2.742000	0.94016	0.650000	0.86243	CGT		PASS	0.488	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		25	102	25	102	---	---	---	---
EOMES	8320	broad.mit.edu	37	3	27759046	27759046	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:27759046G>T	ENST00000295743.4	-	6	1779	c.1576C>A	c.(1576-1578)Cct>Act	p.P526T	EOMES_ENST00000537516.1_Missense_Mutation_p.P250T|EOMES_ENST00000449599.1_Missense_Mutation_p.P545T|EOMES_ENST00000461503.1_5'Flank			O95936	EOMES_HUMAN	eomesodermin	526					brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P526T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TTGGTCCCAGGTTGCTGGACA	0.532																																						uc003cdx.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1576-1578)CCT>ACT		eomesodermin							129.0	136.0	133.0					3																	27759046		2203	4300	6503	SO:0001583	missense	8320				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr3:27759046G>T	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.1576C>A	3.37:g.27759046G>T	ENSP00000295743:p.Pro526Thr					EOMES_uc003cdy.3_Missense_Mutation_p.P545T|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.P250T	p.P526T	NM_005442	NP_005433	O95936	EOMES_HUMAN			6	1576	-			526					B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	Missense_Mutation	SNP	ENST00000295743.4	37	c.1576C>A	CCDS2646.1	.	.	.	.	.	.	.	.	.	.	G	8.986	0.976428	0.18736	.	.	ENSG00000163508	ENST00000295743;ENST00000449599;ENST00000537516;ENST00000535713	D;D;D	0.86030	-2.06;-2.05;-1.72	4.72	2.82	0.32997	.	1.688540	0.02790	N	0.121975	T	0.81795	0.4898	L	0.38175	1.15	0.37371	D	0.911628	B;P;B	0.34587	0.025;0.458;0.329	B;B;B	0.27796	0.015;0.083;0.038	T	0.63849	-0.6544	10	0.48119	T	0.1	.	15.8849	0.79238	0.0:0.5301:0.4699:0.0	.	259;545;526	B7Z4I2;G3XAI5;O95936	.;.;EOMES_HUMAN	T	526;545;250;410	ENSP00000295743:P526T;ENSP00000388620:P545T;ENSP00000442097:P250T	ENSP00000295743:P526T	P	-	1	0	EOMES	27734050	0.998000	0.40836	1.000000	0.80357	0.972000	0.66771	0.986000	0.29590	0.613000	0.30089	0.467000	0.42956	CCT		PASS	0.532	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252995.1	NM_005442		87	88	87	88	---	---	---	---
GOLGA4	2803	broad.mit.edu	37	3	37366072	37366072	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:37366072C>T	ENST00000361924.2	+	14	3069	c.2695C>T	c.(2695-2697)Cag>Tag	p.Q899*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.Q921*|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	899	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)	p.Q899*(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TAACAAAGAACAGGAACAGAC	0.333																																						uc003cgv.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(2695-2697)CAG>TAG		golgi autoantigen, golgin subfamily a, 4							47.0	49.0	48.0					3																	37366072		2181	4292	6473	SO:0001587	stop_gained	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37366072C>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.2695C>T	3.37:g.37366072C>T	ENSP00000354486:p.Gln899*					GOLGA4_uc010hgr.1_Nonsense_Mutation_p.Q460*|GOLGA4_uc003cgw.2_Nonsense_Mutation_p.Q921*|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Nonsense_Mutation_p.Q780*	p.Q899*	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			14	2999	+			899			Potential.|Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Nonsense_Mutation	SNP	ENST00000361924.2	37	c.2695C>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	C	19.84	3.902253	0.72754	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000429018;ENST00000437131	.	.	.	5.05	4.15	0.48705	.	0.552438	0.13696	N	0.369163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	7.8886	0.29665	0.2761:0.5293:0.1946:0.0	.	.	.	.	X	899;921;460;770	.	ENSP00000349305:Q921X	Q	+	1	0	GOLGA4	37341076	0.953000	0.32496	0.382000	0.26119	0.268000	0.26511	1.474000	0.35398	1.060000	0.40578	0.655000	0.94253	CAG		PASS	0.333	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		29	20	29	20	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38592636	38592636	+	Missense_Mutation	SNP	C	C	T	rs199473305		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:38592636C>T	ENST00000333535.4	-	28	5376	c.5227G>A	c.(5227-5229)Ggg>Agg	p.G1743R	SCN5A_ENST00000423572.2_Missense_Mutation_p.G1742R|SCN5A_ENST00000413689.1_Missense_Mutation_p.G1743R|SCN5A_ENST00000455624.2_Missense_Mutation_p.G1710R|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1689R|SCN5A_ENST00000414099.2_Missense_Mutation_p.G1725R|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1689R|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1689R|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1742R|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1725R			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1743			G -> E (in BRGDA1). {ECO:0000269|PubMed:12106943, ECO:0000269|PubMed:19251209}.|G -> R (in BRGDA1; yields nearly undetectable currents in transfected cells). {ECO:0000269|PubMed:15023552}.		AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.G1743R(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTGGGCTCCCGCAGTCCCCC	0.607																																						uc003cio.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	GRCh37	CM034448	SCN5A	M		c.(5227-5229)GGG>AGG		voltage-gated sodium channel type V alpha	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						70.0	75.0	73.0					3																	38592636		2203	4300	6503	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38592636C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5227G>A	3.37:g.38592636C>T	ENSP00000328968:p.Gly1743Arg					SCN5A_uc003cin.2_Missense_Mutation_p.G1742R|SCN5A_uc003cil.3_Missense_Mutation_p.G1743R|SCN5A_uc010hhi.2_Missense_Mutation_p.G1725R|SCN5A_uc010hhk.2_Missense_Mutation_p.G1710R|SCN5A_uc011ayr.1_Missense_Mutation_p.G1689R	p.G1743R	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	28	5421	-	Medulloblastoma(35;0.163)		1743		G -> E (in BRS1).|G -> R (in BRS1; yields nearly undetectable currents in transfected cells).			A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.5227G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857345	0.71834	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98512	-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97;-4.97	4.95	4.95	0.65309	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99489	0.9818	H	0.99104	4.43	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97859	1.0279	10	0.87932	D	0	.	18.3714	0.90408	0.0:1.0:0.0:0.0	.	1689;1710;1725;1743;1742;1743	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	R	1725;1742;1743;1689;1742;1725;1743;1710;1689;1689	ENSP00000398962:G1725R;ENSP00000398266:G1742R;ENSP00000410257:G1743R;ENSP00000388797:G1689R;ENSP00000397915:G1742R;ENSP00000416634:G1725R;ENSP00000328968:G1743R;ENSP00000399524:G1710R;ENSP00000403355:G1689R;ENSP00000413996:G1689R	ENSP00000328968:G1743R	G	-	1	0	SCN5A	38567640	1.000000	0.71417	0.986000	0.45419	0.652000	0.38707	7.651000	0.83577	2.573000	0.86826	0.655000	0.94253	GGG		PASS	0.607	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		16	18	16	18	---	---	---	---
MYL3	4634	broad.mit.edu	37	3	46901133	46901133	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:46901133T>C	ENST00000395869.1	-	4	364	c.313A>G	c.(313-315)Aat>Gat	p.N105D	MYL3_ENST00000292327.4_Missense_Mutation_p.N105D			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	105					cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|cytosol (GO:0005829)|I band (GO:0031674)|muscle myosin complex (GO:0005859)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|myosin II heavy chain binding (GO:0032038)|structural constituent of muscle (GO:0008307)	p.N105D(1)		breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		ATCTTGGTATTGAGCTCTGCA	0.547																																					Melanoma(166;130 1949 2249 18977 46142)	uc003cql.1																			1	Substitution - Missense(1)		lung(1)		0						c.(313-315)AAT>GAT		slow skeletal ventricular myosin alkali light							129.0	125.0	126.0					3																	46901133		2203	4300	6503	SO:0001583	missense	4634				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr3:46901133T>C		CCDS2746.1	3p	2014-09-17	2006-09-29		ENSG00000160808	ENSG00000160808		"""Myosins / Light chain"", ""EF-hand domain containing"""	7584	protein-coding gene	gene with protein product		160790	"""myosin, light polypeptide 3, alkali; ventricular, skeletal, slow"""			1479618, 2784124	Standard	NM_000258		Approved	CMH8, VLC1, MLC1V, MLC1SB	uc003cql.1	P08590	OTTHUMG00000133516	ENST00000395869.1:c.313A>G	3.37:g.46901133T>C	ENSP00000379210:p.Asn105Asp						p.N105D	NM_000258	NP_000249	P08590	MYL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)	4	406	-			105					B2R534|Q9NRS8	Missense_Mutation	SNP	ENST00000395869.1	37	c.313A>G	CCDS2746.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328791	0.41197	.	.	ENSG00000160808	ENST00000395869;ENST00000292327	D;D	0.84873	-1.91;-1.91	4.4	4.4	0.53042	EF-hand-like domain (1);	0.310015	0.35096	N	0.003458	D	0.83968	0.5369	M	0.64404	1.975	0.33290	D	0.563362	B	0.23854	0.092	B	0.32465	0.146	D	0.86822	0.2005	10	0.52906	T	0.07	-34.916	11.8907	0.52628	0.0:0.0:0.0:1.0	.	105	P08590	MYL3_HUMAN	D	105	ENSP00000379210:N105D;ENSP00000292327:N105D	ENSP00000292327:N105D	N	-	1	0	MYL3	46876137	1.000000	0.71417	0.102000	0.21198	0.890000	0.51754	1.240000	0.32731	1.978000	0.57642	0.397000	0.26171	AAT		PASS	0.547	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259165.2	NM_000258		30	63	30	63	---	---	---	---
ARIH2	10425	broad.mit.edu	37	3	49002404	49002404	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:49002404C>G	ENST00000356401.4	+	5	715	c.376C>G	c.(376-378)Cca>Gca	p.P126A	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Missense_Mutation_p.P126A	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	126					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P126A(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TCAGCCTAATCCATCAAAACA	0.398																																						uc003cvb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(376-378)CCA>GCA		ariadne homolog 2							170.0	144.0	153.0					3																	49002404		2203	4300	6503	SO:0001583	missense	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:49002404C>G	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.376C>G	3.37:g.49002404C>G	ENSP00000348769:p.Pro126Ala					ARIH2_uc003cvc.2_Missense_Mutation_p.P126A|ARIH2_uc003cvf.2_Missense_Mutation_p.P44A|ARIH2_uc010hkl.2_Missense_Mutation_p.P126A	p.P126A	NM_006321	NP_006312	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	5	688	+			126					Q9HBZ6|Q9UEM9	Missense_Mutation	SNP	ENST00000356401.4	37	c.376C>G	CCDS2780.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366765	0.41902	.	.	ENSG00000177479	ENST00000430423;ENST00000356401;ENST00000449376;ENST00000444790	T;D;D	0.82255	1.55;-1.59;-1.59	4.88	4.88	0.63580	.	0.196806	0.56097	D	0.000038	T	0.67590	0.2909	L	0.29908	0.895	0.39492	D	0.968062	B;B;B	0.22480	0.07;0.0;0.0	B;B;B	0.16722	0.016;0.001;0.001	T	0.60073	-0.7334	10	0.07644	T	0.81	.	6.6705	0.23066	0.0:0.7729:0.0:0.2271	.	133;126;126	B3KMG5;Q53ET9;O95376	.;.;ARI2_HUMAN	A	126;126;126;125	ENSP00000399788:P126A;ENSP00000348769:P126A;ENSP00000403222:P126A	ENSP00000348769:P126A	P	+	1	0	ARIH2	48977408	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.964000	0.49192	2.411000	0.81874	0.557000	0.71058	CCA		PASS	0.398	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321		29	38	29	38	---	---	---	---
PPP4R2	151987	broad.mit.edu	37	3	73108204	73108204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:73108204C>T	ENST00000356692.5	+	4	557	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	PPP4R2_ENST00000295862.9_Nonsense_Mutation_p.Q46*|EBLN2_ENST00000533473.1_5'Flank|PPP4R2_ENST00000394284.3_Nonsense_Mutation_p.Q45*			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	102					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)	p.Q102*(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		TTTTACTATTCAGCGACTATG	0.313																																						uc003dph.1																			1	Substitution - Nonsense(1)		lung(1)	lung(1)	1						c.(304-306)CAG>TAG		protein phosphatase 4, regulatory subunit 2							82.0	84.0	83.0					3																	73108204		2203	4300	6503	SO:0001587	stop_gained	151987				mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity	g.chr3:73108204C>T	AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.304C>T	3.37:g.73108204C>T	ENSP00000349124:p.Gln102*					PPP4R2_uc003dpi.1_Nonsense_Mutation_p.Q45*|FLJ10213_uc003dpj.2_5'Flank	p.Q102*	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)	4	374	+		Prostate(10;0.0187)|Lung SC(41;0.236)	102					A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Nonsense_Mutation	SNP	ENST00000356692.5	37	c.304C>T	CCDS2917.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658087	0.88154	.	.	ENSG00000163605	ENST00000356692;ENST00000488810;ENST00000394284;ENST00000295862	.	.	.	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.4588	0.90731	0.0:1.0:0.0:0.0	.	.	.	.	X	102;102;45;46	.	ENSP00000295862:Q46X	Q	+	1	0	PPP4R2	73190894	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.377000	0.79668	2.401000	0.81631	0.650000	0.86243	CAG		PASS	0.313	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1	NM_174907		29	30	29	30	---	---	---	---
IMPG2	50939	broad.mit.edu	37	3	101023099	101023099	+	Missense_Mutation	SNP	C	C	A	rs147901568	byFrequency	TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:101023099C>A	ENST00000193391.7	-	3	579	c.392G>T	c.(391-393)cGt>cTt	p.R131L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	131					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)	p.R131L(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	ATATTCCTCACGCCCAGGAAG	0.398																																						uc003duq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(391-393)CGT>CTT		interphotoreceptor matrix proteoglycan 2							104.0	101.0	102.0					3																	101023099		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:101023099C>A	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.392G>T	3.37:g.101023099C>A	ENSP00000193391:p.Arg131Leu					IMPG2_uc011bhe.1_5'UTR	p.R131L	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			3	595	-			131			Extracellular (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.392G>T	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.721386	0.48728	.	.	ENSG00000081148	ENST00000193391	T	0.77620	-1.11	5.75	1.97	0.26223	.	0.460136	0.22915	N	0.054100	T	0.73361	0.3577	M	0.66939	2.045	0.25564	N	0.986967	P	0.44090	0.826	B	0.40741	0.339	T	0.66416	-0.5929	10	0.72032	D	0.01	-0.572	9.4565	0.38758	0.0:0.5834:0.0:0.4166	.	131	Q9BZV3	IMPG2_HUMAN	L	131	ENSP00000193391:R131L	ENSP00000193391:R131L	R	-	2	0	IMPG2	102505789	0.003000	0.15002	0.962000	0.40283	0.993000	0.82548	-0.477000	0.06583	0.375000	0.24679	-0.128000	0.14901	CGT		PASS	0.398	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			4	144	4	144	---	---	---	---
ZPLD1	131368	broad.mit.edu	37	3	102157338	102157338	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:102157338C>A	ENST00000491959.1	+	9	889	c.7C>A	c.(7-9)Caa>Aaa	p.Q3K	ZPLD1_ENST00000466937.1_Missense_Mutation_p.Q3K|ZPLD1_ENST00000306176.1_Missense_Mutation_p.Q19K			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	3						integral component of membrane (GO:0016021)		p.Q19K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						TGCAATGGAACAAATATGGTT	0.458																																						uc003dvs.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(7-9)CAA>AAA		zona pellucida-like domain containing 1							152.0	134.0	140.0					3																	102157338		2203	4300	6503	SO:0001583	missense	131368					integral to membrane		g.chr3:102157338C>A	AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.7C>A	3.37:g.102157338C>A	ENSP00000420265:p.Gln3Lys					ZPLD1_uc003dvt.1_Missense_Mutation_p.Q19K|ZPLD1_uc011bhg.1_Missense_Mutation_p.Q3K	p.Q3K	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN			9	889	+			3					Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37	c.7C>A		.	.	.	.	.	.	.	.	.	.	C	4.938	0.174311	0.09391	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	T;T;T	0.79554	-1.26;-1.28;-1.26	5.0	2.1	0.27182	.	0.996198	0.08147	N	0.990733	T	0.68705	0.3030	L	0.27053	0.805	0.28481	N	0.914973	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.52079	-0.8623	10	0.19147	T	0.46	-11.2201	9.8924	0.41298	0.0:0.6778:0.2493:0.0729	.	19;3	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	K	3;19;3	ENSP00000420265:Q3K;ENSP00000307801:Q19K;ENSP00000418253:Q3K	ENSP00000307801:Q19K	Q	+	1	0	ZPLD1	103640028	0.998000	0.40836	0.251000	0.24312	0.833000	0.47200	3.849000	0.55910	0.120000	0.18254	-0.218000	0.12543	CAA		PASS	0.458	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1	NM_175056		15	32	15	32	---	---	---	---
IFT57	55081	broad.mit.edu	37	3	107938410	107938410	+	Silent	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:107938410A>G	ENST00000264538.3	-	2	469	c.222T>C	c.(220-222)ttT>ttC	p.F74F		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	74					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)	p.F74F(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TAGGCAGTGCAAAATAGTGTC	0.423																																						uc003dwx.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)|pancreas(1)	3						c.(220-222)TTT>TTC		estrogen-related receptor beta like 1							79.0	75.0	76.0					3																	107938410		2203	4299	6502	SO:0001819	synonymous_variant	55081				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	g.chr3:107938410A>G	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.222T>C	3.37:g.107938410A>G							p.F74F	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		2	470	-			74					Q96DA9	Silent	SNP	ENST00000264538.3	37	c.222T>C	CCDS2951.1																																																																																				PASS	0.423	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010		21	95	21	95	---	---	---	---
C3orf17	25871	broad.mit.edu	37	3	112727209	112727209	+	Silent	SNP	C	C	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:112727209C>G	ENST00000314400.5	-	8	1235	c.1044G>C	c.(1042-1044)gtG>gtC	p.V348V	C3orf17_ENST00000393857.2_Silent_p.V212V|C3orf17_ENST00000383675.2_Silent_p.V278V|C3orf17_ENST00000472762.1_5'UTR	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	348					negative regulation of neuron differentiation (GO:0045665)|positive regulation of Notch signaling pathway (GO:0045747)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.V348V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						GAGTTCCTATCACTTTCTGAG	0.388																																						uc003dzr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1042-1044)GTG>GTC		hypothetical protein LOC25871							81.0	81.0	81.0					3																	112727209		2203	4300	6503	SO:0001819	synonymous_variant	25871					integral to membrane		g.chr3:112727209C>G	AL117573	CCDS33824.1	3q13.2	2009-11-06			ENSG00000163608	ENSG00000163608			24496	protein-coding gene	gene with protein product						12477932	Standard	NR_027794		Approved	DKFZP434F2021, NET17	uc003dzr.3	Q6NW34	OTTHUMG00000159286	ENST00000314400.5:c.1044G>C	3.37:g.112727209C>G						GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_5'UTR|C3orf17_uc011bhz.1_5'UTR|C3orf17_uc010hqh.2_5'UTR|C3orf17_uc003dzt.2_Silent_p.V251V|C3orf17_uc003dzs.2_Silent_p.V212V|C3orf17_uc010hqg.2_Silent_p.V173V|C3orf17_uc011bia.1_Silent_p.V145V|C3orf17_uc003dzu.2_Silent_p.V277V|C3orf17_uc011bib.1_Silent_p.V237V|C3orf17_uc011bic.1_Silent_p.V181V|C3orf17_uc011bid.1_RNA	p.V348V	NM_015412	NP_056227	Q6NW34	CC017_HUMAN			8	1105	-			348					D3DN69|Q68DM6|Q9H7U0|Q9UFM4	Silent	SNP	ENST00000314400.5	37	c.1044G>C	CCDS33824.1																																																																																				PASS	0.388	C3orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354405.3	NM_015412		17	71	17	71	---	---	---	---
CFAP44	55779	broad.mit.edu	37	3	113138979	113138979	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:113138979A>G	ENST00000295868.2	-	5	617	c.455T>C	c.(454-456)cTg>cCg	p.L152P	WDR52-AS1_ENST00000473329.1_RNA|WDR52_ENST00000393845.2_Missense_Mutation_p.L152P|WDR52-AS1_ENST00000498480.1_RNA	NM_018338.3	NP_060808.2												p.L152P(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ACTGTCGTCCAGAAGTTGTAG	0.428																																						uc003eae.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(454-456)CTG>CCG		WD repeat domain 52 isoform 2							133.0	121.0	125.0					3																	113138979		2203	4300	6503	SO:0001583	missense	55779							g.chr3:113138979A>G																												ENST00000295868.2:c.455T>C	3.37:g.113138979A>G	ENSP00000295868:p.Leu152Pro						p.L152P	NM_018338	NP_060808	Q96MT7	WDR52_HUMAN			5	501	-			152						Missense_Mutation	SNP	ENST00000295868.2	37	c.455T>C	CCDS2972.1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.704147	0.68615	.	.	ENSG00000206530	ENST00000393845;ENST00000295868	T;T	0.56275	5.07;0.47	5.44	5.44	0.79542	.	.	.	.	.	T	0.59432	0.2193	L	0.39397	1.21	0.80722	D	1	D	0.64830	0.994	P	0.58077	0.832	T	0.62987	-0.6737	9	0.72032	D	0.01	.	13.7142	0.62687	1.0:0.0:0.0:0.0	.	152	Q96MT7	WDR52_HUMAN	P	152	ENSP00000377428:L152P;ENSP00000295868:L152P	ENSP00000295868:L152P	L	-	2	0	WDR52	114621669	1.000000	0.71417	0.855000	0.33649	0.670000	0.39368	7.665000	0.83852	2.066000	0.61787	0.533000	0.62120	CTG		PASS	0.428	WDR52-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354128.3			14	46	14	46	---	---	---	---
PLA1A	51365	broad.mit.edu	37	3	119327761	119327761	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:119327761C>A	ENST00000273371.4	+	3	492	c.420C>A	c.(418-420)agC>agA	p.S140R	PLA1A_ENST00000495992.1_Intron|PLA1A_ENST00000488919.1_5'UTR|PLA1A_ENST00000494440.1_Missense_Mutation_p.S124R	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	140					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)	p.S140R(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTAAGTTGAGCCTCGAGATCT	0.473																																						uc003ecu.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(418-420)AGC>AGA		phospholipase A1 member A precursor							138.0	131.0	133.0					3																	119327761		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119327761C>A	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.420C>A	3.37:g.119327761C>A	ENSP00000273371:p.Ser140Arg					PLA1A_uc003ecv.2_Intron|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_5'UTR	p.S140R	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN			3	459	+			140					B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.420C>A	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	C	9.646	1.140346	0.21205	.	.	ENSG00000144837	ENST00000273371;ENST00000494440;ENST00000475963	D;D;D	0.91011	-2.77;-2.77;-2.77	5.41	-0.632	0.11523	Lipase, N-terminal (1);	0.255631	0.45606	D	0.000355	D	0.89444	0.6717	M	0.72118	2.19	0.28106	N	0.931196	P	0.47484	0.896	P	0.49192	0.602	D	0.83740	0.0203	10	0.87932	D	0	-9.2914	6.2789	0.20997	0.1257:0.5073:0.2858:0.0812	.	140	Q53H76	PLA1A_HUMAN	R	140;124;6	ENSP00000273371:S140R;ENSP00000418793:S124R;ENSP00000417295:S6R	ENSP00000273371:S140R	S	+	3	2	PLA1A	120810451	0.972000	0.33761	0.886000	0.34754	0.015000	0.08874	0.066000	0.14489	-0.050000	0.13356	0.462000	0.41574	AGC		PASS	0.473	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			38	90	38	90	---	---	---	---
ISY1	57461	broad.mit.edu	37	3	128875486	128875486	+	Silent	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:128875486C>T	ENST00000393295.3	-	5	494	c.177G>A	c.(175-177)caG>caA	p.Q59Q	ISY1-RAB43_ENST00000418265.1_Silent_p.Q59Q|ISY1_ENST00000393292.3_Silent_p.Q59Q|ISY1_ENST00000471497.1_5'UTR|ISY1_ENST00000273541.8_Silent_p.Q59Q	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)	59					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)	p.Q59Q(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						CATTCTGAATCTGAGCCACTT	0.279																																						uc003elo.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(175-177)CAG>CAA		ISY1 splicing factor homolog							64.0	58.0	60.0					3																	128875486		1808	4069	5877	SO:0001819	synonymous_variant	339122				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr3:128875486C>T		CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 33"""	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.177G>A	3.37:g.128875486C>T						ISY1_uc010hsz.1_5'UTR|ISY1_uc003elp.1_Silent_p.Q59Q|ISY1_uc010hta.1_Silent_p.Q59Q	p.Q59Q	NM_020701	NP_065752	Q86YS6	RAB43_HUMAN			5	388	-			Error:Variant_position_missing_in_Q86YS6_after_alignment					Q96IL2|Q9BT05	Silent	SNP	ENST00000393295.3	37	c.177G>A	CCDS43149.1																																																																																				PASS	0.279	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701		24	97	24	97	---	---	---	---
CPB1	1360	broad.mit.edu	37	3	148562525	148562525	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:148562525C>A	ENST00000491148.1	+	9	1083	c.749C>A	c.(748-750)cCc>cAc	p.P250H	CPB1_ENST00000282957.4_Missense_Mutation_p.P250H			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	250						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.P250H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GGCACAGACCCCAACAGAAAT	0.403																																						uc003ewl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(748-750)CCC>CAC		pancreatic carboxypeptidase B1 preproprotein							110.0	110.0	110.0					3																	148562525		2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148562525C>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.749C>A	3.37:g.148562525C>A	ENSP00000417222:p.Pro250His						p.P250H	NM_001871	NP_001862	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		8	772	+			250					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.749C>A	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390854	0.62066	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.10860	2.83;2.83	5.78	3.09	0.35607	Peptidase M14, carboxypeptidase A (3);	0.102454	0.64402	D	0.000002	T	0.41259	0.1151	H	0.94582	3.555	0.58432	D	0.999999	D	0.89917	1.0	D	0.76071	0.987	T	0.48833	-0.9000	10	0.72032	D	0.01	.	11.0812	0.48062	0.0:0.7454:0.0:0.2546	.	250	P15086	CBPB1_HUMAN	H	250	ENSP00000417222:P250H;ENSP00000282957:P250H	ENSP00000282957:P250H	P	+	2	0	CPB1	150045215	1.000000	0.71417	1.000000	0.80357	0.788000	0.44548	1.585000	0.36600	0.404000	0.25506	-0.736000	0.03550	CCC		PASS	0.403	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		31	113	31	113	---	---	---	---
SI	6476	broad.mit.edu	37	3	164735594	164735594	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:164735594C>T	ENST00000264382.3	-	30	3650	c.3588G>A	c.(3586-3588)atG>atA	p.M1196I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1196	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.M1196I(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GGCCCAAAAACATATAAAAAT	0.328										HNSCC(35;0.089)																												uc003fei.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14						c.(3586-3588)ATG>ATA		sucrase-isomaltase	Acarbose(DB00284)						58.0	57.0	57.0					3																	164735594		2203	4300	6503	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164735594C>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3588G>A	3.37:g.164735594C>T	ENSP00000264382:p.Met1196Ile	HNSCC(35;0.089)					p.M1196I	NM_001041	NP_001032	P14410	SUIS_HUMAN			30	3650	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1196			Sucrase.|Lumenal.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.3588G>A	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.965264	0.34659	.	.	ENSG00000090402	ENST00000264382	D	0.83250	-1.7	4.91	4.91	0.64330	Glycoside hydrolase-type carbohydrate-binding (1);	0.043323	0.85682	D	0.000000	T	0.72104	0.3419	N	0.17764	0.52	0.44352	D	0.99724	B	0.24576	0.106	B	0.35607	0.206	T	0.63963	-0.6518	10	0.08179	T	0.78	.	11.7188	0.51670	0.0:0.9195:0.0:0.0805	.	1196	P14410	SUIS_HUMAN	I	1196	ENSP00000264382:M1196I	ENSP00000264382:M1196I	M	-	3	0	SI	166218288	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.465000	0.73538	2.540000	0.85666	0.491000	0.48974	ATG		PASS	0.328	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		6	100	6	100	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164907320	164907320	+	Silent	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:164907320G>A	ENST00000475390.1	-	2	1742	c.1299C>T	c.(1297-1299)tcC>tcT	p.S433S	SLITRK3_ENST00000241274.3_Silent_p.S433S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	433					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.S433S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						AGAGATCCAAGGAAGAAAAAT	0.408										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(1297-1299)TCC>TCT		slit and trk like 3 protein precursor							47.0	48.0	48.0					3																	164907320		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164907320G>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1299C>T	3.37:g.164907320G>A		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.S433S	p.S433S	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1743	-			433			LRR 8.|Extracellular (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.1299C>T	CCDS3197.1																																																																																				PASS	0.408	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		4	104	4	104	---	---	---	---
TBL1XR1	79718	broad.mit.edu	37	3	176756174	176756174	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:176756174C>G	ENST00000430069.1	-	11	1233	c.974G>C	c.(973-975)tGt>tCt	p.C325S	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.C325S			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	325					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.C325S(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			ATCTGTACTACAAGAAGCAAA	0.373																																						uc003fiw.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(973-975)TGT>TCT		transducin (beta)-like 1 X-linked receptor 1							110.0	98.0	102.0					3																	176756174		1878	4117	5995	SO:0001583	missense	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176756174C>G	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.974G>C	3.37:g.176756174C>G	ENSP00000405574:p.Cys325Ser					TBL1XR1_uc003fix.3_Missense_Mutation_p.C325S|TBL1XR1_uc011bpz.1_5'UTR	p.C325S	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		11	1234	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	325			WD 4.		D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	c.974G>C	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616038	0.87359	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	T;T	0.81163	-1.46;-1.46	5.82	5.82	0.92795	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	0.88407	0.6428	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.83699	0.0181	10	0.12766	T	0.61	-5.1506	19.0789	0.93173	0.0:1.0:0.0:0.0	.	325	Q9BZK7	TBL1R_HUMAN	S	325;325;187	ENSP00000405574:C325S;ENSP00000413251:C325S	ENSP00000405574:C325S	C	-	2	0	TBL1XR1	178238868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.787000	0.85759	2.754000	0.94517	0.585000	0.79938	TGT		PASS	0.373	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665		4	25	4	25	---	---	---	---
KCNMB2	10242	broad.mit.edu	37	3	178560680	178560680	+	Silent	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:178560680G>A	ENST00000432997.1	+	5	1015	c.663G>A	c.(661-663)caG>caA	p.Q221Q	RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000358316.3_Silent_p.Q221Q|KCNMB2_ENST00000452583.1_Silent_p.Q221Q|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000420517.2_Silent_p.Q221Q	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	235					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)	p.Q221Q(1)		NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	AACTTACACAGTACCTCTCCC	0.398																																						uc003fjd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(661-663)CAG>CAA		calcium-activated potassium channel beta 2							85.0	83.0	83.0					3																	178560680		2203	4299	6502	SO:0001819	synonymous_variant	10242				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr3:178560680G>A	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.663G>A	3.37:g.178560680G>A						uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Silent_p.Q221Q|KCNMB2_uc003fjf.2_Silent_p.Q221Q|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_RNA	p.Q221Q	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		5	1006	+	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		221			Cytoplasmic (Potential).		B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Silent	SNP	ENST00000432997.1	37	c.663G>A	CCDS3223.1																																																																																				PASS	0.398	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361		16	172	16	172	---	---	---	---
CLDN16	10686	broad.mit.edu	37	3	190126224	190126224	+	Silent	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:190126224C>A	ENST00000264734.2	+	4	962	c.714C>A	c.(712-714)ctC>ctA	p.L238L	CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	238					calcium-independent cell-cell adhesion (GO:0016338)|cellular metal ion homeostasis (GO:0006875)|excretion (GO:0007588)|magnesium ion transport (GO:0015693)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|structural molecule activity (GO:0005198)	p.L238L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CCTGTTGGCTCGGAATGGCTG	0.388																																						uc003fsi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(712-714)CTC>CTA		claudin 16							181.0	174.0	176.0					3																	190126224		2203	4300	6503	SO:0001819	synonymous_variant	10686				calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	g.chr3:190126224C>A	AF152101	CCDS3296.1	3q28	2008-12-10			ENSG00000113946	ENSG00000113946		"""Claudins"""	2037	protein-coding gene	gene with protein product	"""paracellin-1"", ""hypomagnesemia 3, with hypercalciuria and nephrocalcinosis"""	603959				10390358	Standard	NM_006580		Approved	PCLN1, HOMG3	uc003fsi.3	Q9Y5I7	OTTHUMG00000156215	ENST00000264734.2:c.714C>A	3.37:g.190126224C>A						CLDN16_uc010hze.2_Intron	p.L238L	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)	4	782	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		238			Extracellular (Potential).			Silent	SNP	ENST00000264734.2	37	c.714C>A	CCDS3296.1																																																																																				PASS	0.388	CLDN16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343519.1	NM_006580		5	361	5	361	---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193158357	193158357	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:193158357G>A	ENST00000342695.4	-	21	2831	c.2509C>T	c.(2509-2511)Cag>Tag	p.Q837*	ATP13A4_ENST00000392443.3_Nonsense_Mutation_p.Q818*	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	837						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.Q837*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCCAGTTTCTGAAATTCTTCC	0.463																																						uc003ftd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(2509-2511)CAG>TAG		ATPase type 13A4							88.0	86.0	87.0					3																	193158357		2203	4300	6503	SO:0001587	stop_gained	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193158357G>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2509C>T	3.37:g.193158357G>A	ENSP00000339182:p.Gln837*					ATP13A4_uc003fte.1_Nonsense_Mutation_p.Q837*|ATP13A4_uc011bsr.1_Nonsense_Mutation_p.Q308*|ATP13A4_uc010hzi.2_RNA	p.Q837*	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	21	2617	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		837			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Nonsense_Mutation	SNP	ENST00000342695.4	37	c.2509C>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	42	9.256996	0.99117	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	.	.	.	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-20.798	18.4217	0.90592	0.0:0.0:1.0:0.0	.	.	.	.	X	818;837	.	ENSP00000339182:Q837X	Q	-	1	0	ATP13A4	194641051	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.438000	0.80431	2.687000	0.91594	0.655000	0.94253	CAG		PASS	0.463	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		5	128	5	128	---	---	---	---
SENP5	205564	broad.mit.edu	37	3	196626831	196626831	+	Silent	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr3:196626831G>T	ENST00000323460.5	+	4	1905	c.1656G>T	c.(1654-1656)cgG>cgT	p.R552R	SENP5_ENST00000445299.2_Silent_p.R552R|SENP5_ENST00000419026.1_Silent_p.R42R	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	552					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.R552R(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CAAACTATCGGGCCAGACATC	0.368																																					Ovarian(47;891 1095 11174 13858 51271)	uc003fwz.3																			1	Substitution - coding silent(1)		lung(1)	breast(2)|lung(1)	3						c.(1654-1656)CGG>CGT		SUMO1/sentrin specific peptidase 5							68.0	67.0	68.0					3																	196626831		2203	4300	6503	SO:0001819	synonymous_variant	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196626831G>T	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1656G>T	3.37:g.196626831G>T						SENP5_uc011bty.1_Silent_p.R552R	p.R552R	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	4	1905	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		552					B4DY82|Q96SA5	Silent	SNP	ENST00000323460.5	37	c.1656G>T	CCDS3322.1																																																																																				PASS	0.368	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		30	106	30	106	---	---	---	---
TNIP2	79155	broad.mit.edu	37	4	2749604	2749604	+	Silent	SNP	G	G	C	rs143687899		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr4:2749604G>C	ENST00000315423.7	-	2	431	c.345C>G	c.(343-345)ccC>ccG	p.P115P	TNIP2_ENST00000505186.1_5'Flank|TNIP2_ENST00000510267.1_Silent_p.P8P|TNIP2_ENST00000503235.1_Silent_p.P115P	NM_024309.3	NP_077285.3			TNFAIP3 interacting protein 2									p.P115P(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCTCGTGTTGGGGCTGGCTCA	0.572																																						uc003gfg.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(343-345)CCC>CCG		A20-binding inhibitor of NF-kappaB activation 2		T	,	1,4405	2.1+/-5.4	0,1,2202	54.0	54.0	54.0		24,345	-5.0	0.0	4	dbSNP_134	54	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TNIP2	NM_001161527.1,NM_024309.3	,	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	,	8/323,115/430	2749604	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	79155					cytosol	protein binding	g.chr4:2749604G>C	BC002740	CCDS3362.1, CCDS54714.1, CCDS75093.1	4p16.3	2008-08-01			ENSG00000168884	ENSG00000168884			19118	protein-coding gene	gene with protein product		610669				11390377, 12933576	Standard	NM_024309		Approved	ABIN-2, MGC4289, KLIP, FLIP1	uc003gfg.2	Q8NFZ5	OTTHUMG00000090267	ENST00000315423.7:c.345C>G	4.37:g.2749604G>C						TNIP2_uc003gff.2_Silent_p.P8P|TNIP2_uc003gfh.2_Silent_p.P115P	p.P115P	NM_024309	NP_077285	Q8NFZ5	TNIP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	2	432	-			115			Potential.			Silent	SNP	ENST00000315423.7	37	c.345C>G	CCDS3362.1																																																																																				PASS	0.572	TNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206589.5	NM_024309		20	59	20	59	---	---	---	---
CPEB2	132864	broad.mit.edu	37	4	15055755	15055755	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr4:15055755A>C	ENST00000507071.1	+	7	1127	c.1040A>C	c.(1039-1041)gAa>gCa	p.E347A	CPEB2_ENST00000442003.2_Missense_Mutation_p.E765A|CPEB2_ENST00000538197.1_Missense_Mutation_p.E792A|CPEB2_ENST00000345451.3_Missense_Mutation_p.E317A|CPEB2_ENST00000382395.3_Missense_Mutation_p.E325A|CPEB2_ENST00000541112.1_Missense_Mutation_p.E784A|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000259997.5_Missense_Mutation_p.E355A|CPEB2_ENST00000382401.3_Missense_Mutation_p.E320A|RP11-665G4.1_ENST00000502344.1_RNA			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	347	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)	p.E347A(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						TCTTAAGATGAAATAACTGCT	0.323																																						uc003gni.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1039-1041)GAA>GCA		cytoplasmic polyadenylation element binding							104.0	109.0	107.0					4																	15055755		2203	4299	6502	SO:0001583	missense	132864				regulation of translation	cytoplasm	nucleotide binding|RNA binding	g.chr4:15055755A>C	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1040A>C	4.37:g.15055755A>C	ENSP00000424084:p.Glu347Ala					CPEB2_uc003gnj.1_Missense_Mutation_p.E317A|CPEB2_uc003gnk.1_Missense_Mutation_p.E355A|CPEB2_uc003gnl.1_Missense_Mutation_p.E328A|CPEB2_uc003gnm.1_Missense_Mutation_p.E325A|CPEB2_uc003gnn.1_Missense_Mutation_p.E320A	p.E347A	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN			7	1127	+			347			RRM 1.		E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Missense_Mutation	SNP	ENST00000507071.1	37	c.1040A>C		.	.	.	.	.	.	.	.	.	.	A	20.8	4.052976	0.75960	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391	T;T;T;T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2;2.2;2.2;2.2	5.42	5.42	0.78866	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	M	0.71036	2.16	0.80722	D	1	D;D;P;P;D;D	0.69078	0.972;0.997;0.919;0.917;0.997;0.992	D;D;P;P;D;D	0.81914	0.982;0.995;0.892;0.869;0.995;0.995	T	0.48681	-0.9014	10	0.87932	D	0	-18.0368	15.4529	0.75290	1.0:0.0:0.0:0.0	.	320;325;765;792;317;347	Q7Z5Q1-4;Q7Z5Q1-6;E7EPM3;F5H160;Q7Z5Q1-5;Q7Z5Q1	.;.;.;.;.;CPEB2_HUMAN	A	792;784;765;347;317;325;320;355;334	ENSP00000443985:E792A;ENSP00000437884:E784A;ENSP00000414270:E765A;ENSP00000424084:E347A;ENSP00000334058:E317A;ENSP00000371832:E325A;ENSP00000371838:E320A;ENSP00000259997:E355A	ENSP00000259997:E355A	E	+	2	0	CPEB2	14664853	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	9.310000	0.96267	2.044000	0.60594	0.482000	0.46254	GAA		PASS	0.323	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607		4	126	4	126	---	---	---	---
CCKAR	886	broad.mit.edu	37	4	26490935	26490935	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr4:26490935A>G	ENST00000295589.3	-	2	478	c.284T>C	c.(283-285)aTg>aCg	p.M95T		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	95					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)	p.M95T(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	GTTGAACGGCATGCAGAAGAG	0.547																																						uc003gse.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|pancreas(1)	4						c.(283-285)ATG>ACG		cholecystokinin A receptor	Ceruletide(DB00403)						178.0	148.0	158.0					4																	26490935		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26490935A>G	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.284T>C	4.37:g.26490935A>G	ENSP00000295589:p.Met95Thr						p.M95T	NM_000730	NP_000721	P32238	CCKAR_HUMAN			2	437	-		Breast(46;0.0503)	95			Helical; Name=2; (Potential).		B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.284T>C	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.732028	0.69189	.	.	ENSG00000163394	ENST00000295589	T	0.19250	2.16	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.042393	0.85682	D	0.000000	T	0.44746	0.1308	M	0.68728	2.09	0.80722	D	1	D	0.67145	0.996	D	0.71870	0.975	T	0.44360	-0.9333	10	0.87932	D	0	.	15.1666	0.72833	1.0:0.0:0.0:0.0	.	95	P32238	CCKAR_HUMAN	T	95	ENSP00000295589:M95T	ENSP00000295589:M95T	M	-	2	0	CCKAR	26100033	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	1.980000	0.57719	0.459000	0.35465	ATG		PASS	0.547	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2			19	80	19	80	---	---	---	---
TBC1D1	23216	broad.mit.edu	37	4	37962435	37962435	+	Intron	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr4:37962435G>T	ENST00000261439.4	+	3	772				PTTG2_ENST00000504686.1_Missense_Mutation_p.S127I|TBC1D1_ENST00000508802.1_Intron	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)	p.S127I(1)		NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						GACTTTGAGAGTTTTGACCTG	0.453																																						uc011bye.1																			1	Substitution - Missense(1)		lung(1)		0						c.(379-381)AGT>ATT		pituitary tumor-transforming 2							96.0	101.0	100.0					4																	37962435		2203	4300	6503	SO:0001627	intron_variant	10744				chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding	g.chr4:37962435G>T	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.418-53695G>T	4.37:g.37962435G>T						TBC1D1_uc003gtb.2_Intron|TBC1D1_uc011byd.1_Intron|TBC1D1_uc010ifd.2_Intron	p.S127I	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN			1	380	+			127					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Missense_Mutation	SNP	ENST00000261439.4	37	c.380G>T	CCDS33972.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871477	0.33069	.	.	ENSG00000250254	ENST00000504686	T	0.50813	0.73	1.24	-0.956	0.10353	.	.	.	.	.	T	0.56232	0.1971	M	0.74881	2.28	0.09310	N	1	D	0.59357	0.985	P	0.59889	0.865	T	0.48246	-0.9052	9	0.87932	D	0	.	2.6906	0.05120	0.2235:0.3052:0.4713:0.0	.	127	Q9NZH5-2	.	I	127	ENSP00000424261:S127I	ENSP00000424261:S127I	S	+	2	0	PTTG2	37638830	0.998000	0.40836	0.258000	0.24420	0.152000	0.21847	0.592000	0.23984	-0.321000	0.08627	-0.514000	0.04452	AGT		PASS	0.453	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	NM_015173		26	87	26	87	---	---	---	---
APBB2	323	broad.mit.edu	37	4	41016210	41016210	+	Silent	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr4:41016210G>A	ENST00000295974.8	-	6	854	c.225C>T	c.(223-225)atC>atT	p.I75I	APBB2_ENST00000513140.1_Silent_p.I75I|APBB2_ENST00000508593.1_Silent_p.I75I|APBB2_ENST00000506352.1_Silent_p.I75I	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	75					axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)	p.I75I(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						TGGCCGCCTGGATGTTAGTTA	0.502																																					Ovarian(3;20 75 16686 49997)	uc003gvl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(223-225)ATC>ATT		amyloid beta A4 precursor protein-binding,							225.0	213.0	217.0					4																	41016210		1983	4178	6161	SO:0001819	synonymous_variant	323				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	g.chr4:41016210G>A	U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.225C>T	4.37:g.41016210G>A						APBB2_uc003gvm.2_Silent_p.I75I|APBB2_uc003gvn.2_Silent_p.I75I|APBB2_uc011byt.1_Silent_p.I58I	p.I75I	NM_173075	NP_775098	Q92870	APBB2_HUMAN			6	855	-			75					B4DSL4|E9PG87|Q8IUI6	Silent	SNP	ENST00000295974.8	37	c.225C>T	CCDS54761.1	.	.	.	.	.	.	.	.	.	.	G	9.619	1.133264	0.21041	.	.	ENSG00000163697	ENST00000513611	.	.	.	5.27	2.55	0.30701	.	.	.	.	.	T	0.58991	0.2161	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55988	-0.8053	4	.	.	.	-24.2082	9.8206	0.40880	0.2795:0.0:0.7205:0.0	.	.	.	.	S	65	.	.	P	-	1	0	APBB2	40710967	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.455000	0.35190	1.207000	0.43291	0.561000	0.74099	CCA		PASS	0.502	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075		51	87	51	87	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46060551	46060551	+	Silent	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr4:46060551A>G	ENST00000295452.4	-	6	881	c.714T>C	c.(712-714)ttT>ttC	p.F238F		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	238					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F238F(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTACAAATGCAAACTGATATA	0.348																																						uc003gxb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(712-714)TTT>TTC		gamma-aminobutyric acid A receptor, gamma 1							92.0	88.0	89.0					4																	46060551		2203	4300	6503	SO:0001819	synonymous_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060551A>G	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.714T>C	4.37:g.46060551A>G							p.F238F	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	6	866	-			238			Extracellular (Probable).		Q5H9T8	Silent	SNP	ENST00000295452.4	37	c.714T>C	CCDS3470.1																																																																																				PASS	0.348	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		18	53	18	53	---	---	---	---
PDCL2	132954	broad.mit.edu	37	4	56448400	56448401	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr4:56448400_56448401GG>TT	ENST00000295645.4	-	2	112_113	c.10_11CC>AA	c.(10-12)CCc>AAc	p.P4N		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	4								p.P4H(1)|p.P4N(1)|p.P4T(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			ATCTTCATTGGGATCCTACACA	0.297																																						uc003hbb.2																			3	Substitution - Missense(3)		lung(3)		0						c.(10-12)CCC>CAC|c.(10-12)CCC>ACC		phosducin-like 2																																				SO:0001583	missense	132954							g.chr4:56448400G>T|g.chr4:56448401G>T	BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.10_11delinsTT	4.37:g.56448400_56448401delinsTT	ENSP00000295645:p.Pro4Asn						p.P4H|p.P4T	NM_152401	NP_689614	Q8N4E4	PDCL2_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)		2	114|113	-	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		4					A8MWA2|B9ZVQ9	Missense_Mutation	SNP	ENST00000295645.4	37	c.11C>A|c.10C>A	CCDS47059.1																																																																																				PASS	0.297	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361659.1	NM_152401		15	55	15	55	---	---	---	---
REST	5978	broad.mit.edu	37	4	57786007	57786007	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr4:57786007A>T	ENST00000309042.7	+	3	1267	c.953A>T	c.(952-954)cAt>cTt	p.H318L	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	318					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.H318L(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CAGAAGACTCATCTAACTAGA	0.323																																						uc003hch.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9						c.(952-954)CAT>CTT		RE1-silencing transcription factor							96.0	101.0	99.0					4																	57786007		2203	4300	6503	SO:0001583	missense	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57786007A>T	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.953A>T	4.37:g.57786007A>T	ENSP00000311816:p.His318Leu					REST_uc003hci.2_Missense_Mutation_p.H318L|REST_uc010ihf.2_5'UTR	p.H318L	NM_005612	NP_005603	Q13127	REST_HUMAN			3	1300	+	Glioma(25;0.08)|all_neural(26;0.181)		318			C2H2-type 5.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	c.953A>T	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.982598	0.93044	.	.	ENSG00000084093	ENST00000456010;ENST00000309042	T	0.18338	2.22	5.93	5.93	0.95920	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000005	T	0.28067	0.0692	N	0.17082	0.46	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10753	-1.0616	10	0.66056	D	0.02	-26.733	16.0336	0.80603	1.0:0.0:0.0:0.0	.	318	Q13127	REST_HUMAN	L	318	ENSP00000311816:H318L	ENSP00000311816:H318L	H	+	2	0	REST	57480764	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.167000	0.94773	2.257000	0.74773	0.533000	0.62120	CAT		PASS	0.323	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612		3	96	3	96	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66356236	66356237	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr4:66356236_66356237GG>TT	ENST00000273854.3	-	5	1860_1861	c.1260_1261CC>AA	c.(1258-1263)ggCCtg>ggAAtg	p.L421M	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Missense_Mutation_p.L421M|EPHA5_ENST00000511294.1_Missense_Mutation_p.L421M	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	421	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.L421M(2)|p.G420G(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GTGTTTTTCAGGCCGCTTTGCC	0.505										TSP Lung(17;0.13)																												uc003hcy.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1261-1263)CTG>ATG|c.(1258-1260)GGC>GGA		ephrin receptor EphA5 isoform a precursor																																				SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66356236G>T|g.chr4:66356237G>T	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1260_1261delinsTT	4.37:g.66356236_66356237delinsTT	ENSP00000273854:p.Leu421Met	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.L352M|EPHA5_uc003hcz.2_Missense_Mutation_p.L421M|EPHA5_uc011cah.1_Missense_Mutation_p.L421M|EPHA5_uc011cai.1_Missense_Mutation_p.L421M|EPHA5_uc003hda.2_Missense_Mutation_p.L421M|EPHA5_uc003hcx.2_Silent_p.G351G|EPHA5_uc003hcz.2_Silent_p.G420G|EPHA5_uc011cah.1_Silent_p.G420G|EPHA5_uc011cai.1_Silent_p.G420G|EPHA5_uc003hda.2_Silent_p.G420G	p.L421M|p.G420G	NM_004439	NP_004430	P54756	EPHA5_HUMAN			5	1454|1453	-			421|420			Fibronectin type-III 1.|Extracellular (Potential).		Q7Z3F2	Missense_Mutation|Silent	SNP	ENST00000273854.3	37	c.1261C>A|c.1260C>A	CCDS3513.1																																																																																				PASS	0.505	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		53	54|53	53	53	---	---	---	---
UGT2B15	7366	broad.mit.edu	37	4	69535760	69535760	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr4:69535760A>C	ENST00000338206.5	-	1	586	c.577T>G	c.(577-579)Tcc>Gcc	p.S193A		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	193					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.S193A(1)								Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	GGTACATAGGAAGGAGGGAAC	0.358																																						uc011cal.1																			1	Substitution - Missense(1)		lung(1)		0						c.(577-579)TCC>GCC		UDP glycosyltransferase 2B15 precursor							164.0	163.0	163.0					4																	69535760		2203	4296	6499	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69535760A>C	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.577T>G	4.37:g.69535760A>C	ENSP00000341045:p.Ser193Ala						p.S193A	NM_001076	NP_001067	P54855	UDB15_HUMAN			1	615	-			193					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.577T>G	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	a	12.91	2.080817	0.36758	.	.	ENSG00000196620	ENST00000338206	T	0.66995	-0.24	2.79	2.79	0.32731	.	0.000000	0.64402	U	0.000007	T	0.79375	0.4435	M	0.82132	2.575	0.27815	N	0.94202	D	0.89917	1.0	D	0.97110	1.0	T	0.70615	-0.4823	10	0.87932	D	0	.	8.9997	0.36074	1.0:0.0:0.0:0.0	.	193	P54855	UDB15_HUMAN	A	193	ENSP00000341045:S193A	ENSP00000341045:S193A	S	-	1	0	UGT2B15	69218355	1.000000	0.71417	0.812000	0.32479	0.064000	0.16182	7.976000	0.88070	1.259000	0.44117	0.363000	0.22086	TCC		PASS	0.358	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		4	402	4	402	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85771053	85771053	+	Splice_Site	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr4:85771053A>G	ENST00000295888.4	-	5	712		c.e5+1		WDFY3_ENST00000322366.6_Splice_Site	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3						aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.?(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTGTAAAAATACCTGTGGATT	0.363																																						uc003hpd.2																			1	Unknown(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.e5+1		WD repeat and FYVE domain containing 3 isoform							126.0	124.0	125.0					4																	85771053		2203	4299	6502	SO:0001630	splice_region_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85771053A>G	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.304+1T>C	4.37:g.85771053A>G						WDFY3_uc003hpf.2_Splice_Site_p.E102_splice	p.E102_splice	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	5	712	-		Hepatocellular(203;0.114)						Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Splice_Site	SNP	ENST00000295888.4	37	c.304_splice	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.237209	0.79800	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514071	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5483	0.76126	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDFY3	85990077	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.203000	0.95033	2.208000	0.71279	0.533000	0.62120	.		PASS	0.363	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	Intron	5	111	5	111	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114278132	114278132	+	Silent	SNP	T	T	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr4:114278132T>A	ENST00000357077.4	+	38	8411	c.8358T>A	c.(8356-8358)gcT>gcA	p.A2786A	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.A2753A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2786					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A2786A(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCAGCTCAGCTGCTCCTGTCT	0.463																																						uc003ibe.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(8356-8358)GCT>GCA		ankyrin 2 isoform 1							74.0	69.0	71.0					4																	114278132		2203	4300	6503	SO:0001819	synonymous_variant	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114278132T>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8358T>A	4.37:g.114278132T>A						ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Silent_p.A88A|ANK2_uc011cgb.1_Silent_p.A2801A	p.A2786A	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8458	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2753					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	ENST00000357077.4	37	c.8358T>A	CCDS3702.1																																																																																				PASS	0.463	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		42	23	42	23	---	---	---	---
POU4F2	5458	broad.mit.edu	37	4	147561769	147561769	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr4:147561769C>T	ENST00000281321.3	+	2	1287	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	347					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R347C(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GGAGAAGAAGCGCAAGCGCAC	0.622																																						uc003ikv.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1039-1041)CGC>TGC		Brn3b POU domain transcription factor							87.0	91.0	90.0					4																	147561769		2203	4300	6503	SO:0001583	missense	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147561769C>T	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.1039C>T	4.37:g.147561769C>T	ENSP00000281321:p.Arg347Cys						p.R347C	NM_004575	NP_004566	Q12837	PO4F2_HUMAN			2	1287	+	all_hematologic(180;0.151)		347			Homeobox.		B1PJR6|B2RC84|Q13883|Q14987	Missense_Mutation	SNP	ENST00000281321.3	37	c.1039C>T	CCDS34074.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.075213	0.55646	.	.	ENSG00000151615	ENST00000281321	D	0.97161	-4.27	5.49	4.56	0.56223	Homeodomain-related (1);Homeobox (3);POU (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98795	0.9594	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.99215	1.0877	10	0.87932	D	0	.	15.1175	0.72413	0.2336:0.7664:0.0:0.0	.	347	Q12837	PO4F2_HUMAN	C	347	ENSP00000281321:R347C	ENSP00000281321:R347C	R	+	1	0	POU4F2	147781219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.028000	0.30128	2.595000	0.87683	0.561000	0.74099	CGC		PASS	0.622	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		7	161	7	161	---	---	---	---
FGA	2243	broad.mit.edu	37	4	155510606	155510606	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr4:155510606A>T	ENST00000302053.3	-	2	241	c.163T>A	c.(163-165)Tgc>Agc	p.C55S	FGA_ENST00000403106.3_Missense_Mutation_p.C55S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	55					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.C55S(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCATCAGAGCAGAAGGGCCAG	0.542																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(163-165)TGC>AGC		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						120.0	116.0	117.0					4																	155510606		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155510606A>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.163T>A	4.37:g.155510606A>T	ENSP00000306361:p.Cys55Ser					FGA_uc003ioe.1_Missense_Mutation_p.C55S|FGA_uc003iof.1_Missense_Mutation_p.C55S	p.C55S	NM_000508	NP_000499	P02671	FIBA_HUMAN			2	221	-	all_hematologic(180;0.215)	Renal(120;0.0458)	55					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.163T>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.595766	0.86953	.	.	ENSG00000171560	ENST00000302053;ENST00000403106;ENST00000457487	D;D	0.85411	-1.98;-1.98	5.59	5.59	0.84812	Fibrinogen, alpha/beta/gamma chain, coiled coil domain (2);	0.126502	0.85682	D	0.000000	D	0.92237	0.7538	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.93199	0.6590	10	0.87932	D	0	.	15.771	0.78167	1.0:0.0:0.0:0.0	.	55;55;55	A8K3E4;P02671-2;P02671	.;.;FIBA_HUMAN	S	55	ENSP00000306361:C55S;ENSP00000385981:C55S	ENSP00000306361:C55S	C	-	1	0	FGA	155730056	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.025000	0.76449	2.123000	0.65237	0.533000	0.62120	TGC		PASS	0.542	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		53	64	53	64	---	---	---	---
VEGFC	7424	broad.mit.edu	37	4	177649017	177649017	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr4:177649017C>A	ENST00000280193.2	-	3	882	c.467G>T	c.(466-468)tGt>tTt	p.C156F	VEGFC_ENST00000507638.1_5'UTR	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	156					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.C156F(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GACGGACACACATGGAGGTTT	0.517																																						uc003ius.1																			1	Substitution - Missense(1)		lung(1)	lung(5)	5						c.(466-468)TGT>TTT		vascular endothelial growth factor C							120.0	123.0	122.0					4																	177649017		2016	4179	6195	SO:0001583	missense	7424				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	g.chr4:177649017C>A	BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.467G>T	4.37:g.177649017C>A	ENSP00000280193:p.Cys156Phe						p.C156F	NM_005429	NP_005420	P49767	VEGFC_HUMAN		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)	3	897	-		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)	156					B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	c.467G>T	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484292	0.84854	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.72	5.72	0.89469	Platelet-derived growth factor, conserved site (1);Platelet-derived growth factor (PDGF) (3);	0.000000	0.85682	D	0.000000	D	0.89389	0.6701	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91347	0.5101	9	0.87932	D	0	-9.408	20.2406	0.98372	0.0:1.0:0.0:0.0	.	156	P49767	VEGFC_HUMAN	F	156	.	ENSP00000280193:C156F	C	-	2	0	VEGFC	177886011	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.445000	0.80570	2.857000	0.98124	0.650000	0.86243	TGT		PASS	0.517	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429		39	50	39	50	---	---	---	---
TENM3	55714	broad.mit.edu	37	4	183675813	183675813	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr4:183675813G>T	ENST00000511685.1	+	22	4416	c.4293G>T	c.(4291-4293)caG>caT	p.Q1431H	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.Q1431H			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	1431					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.Q1431H(1)									GGATAAGGCAGGTCACAACAG	0.468																																						uc003ivd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(4291-4293)CAG>CAT		odz, odd Oz/ten-m homolog 3							58.0	59.0	59.0					4																	183675813		1974	4162	6136	SO:0001583	missense	55714				signal transduction	integral to membrane		g.chr4:183675813G>T	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.4293G>T	4.37:g.183675813G>T	ENSP00000424226:p.Gln1431His					ODZ3_uc003ive.1_Missense_Mutation_p.Q844H	p.Q1431H	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)	21	4330	+		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)	1431			Extracellular (Potential).		Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.4293G>T	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.304219	0.60305	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	D;D	0.90197	-2.63;-2.63	5.53	3.69	0.42338	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	D	0.88680	0.6502	M	0.71296	2.17	0.52501	D	0.999954	B	0.06786	0.001	B	0.04013	0.001	D	0.84284	0.0496	9	0.46703	T	0.11	.	10.8798	0.46931	0.0731:0.128:0.7988:0.0	.	1431	Q9P273	TEN3_HUMAN	H	1431	ENSP00000424226:Q1431H;ENSP00000385276:Q1431H	ENSP00000385276:Q1431H	Q	+	3	2	ODZ3	183912807	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.940000	0.56599	0.793000	0.33875	0.655000	0.94253	CAG		PASS	0.468	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			5	37	5	37	---	---	---	---
SLC6A3	6531	broad.mit.edu	37	5	1409227	1409227	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:1409227A>T	ENST00000270349.9	-	11	1539	c.1412T>A	c.(1411-1413)gTc>gAc	p.V471D	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V471D	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	471			V -> I (in dbSNP:rs75916702). {ECO:0000269|PubMed:21179162}.		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.V471D(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)	GAGCGTGAAGACGTAGATGCC	0.572																																						uc003jck.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)	6						c.(1411-1413)GTC>GAC		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)						55.0	48.0	51.0					5																	1409227		2201	4295	6496	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1409227A>T		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.1412T>A	5.37:g.1409227A>T	ENSP00000270349:p.Val471Asp						p.V471D	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		11	1533	-			471					A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.1412T>A	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.685079	0.47991	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.76316	-1.01;-1.01	3.65	3.65	0.41850	.	0.132318	0.49916	D	0.000126	D	0.89729	0.6799	H	0.95611	3.695	0.80722	D	1	D	0.61697	0.99	D	0.65573	0.936	D	0.91497	0.5216	10	0.87932	D	0	.	10.5502	0.45083	1.0:0.0:0.0:0.0	.	471	Q01959	SC6A3_HUMAN	D	471	ENSP00000270349:V471D;ENSP00000399806:V471D	ENSP00000270349:V471D	V	-	2	0	SLC6A3	1462227	1.000000	0.71417	0.993000	0.49108	0.675000	0.39556	8.249000	0.89833	1.661000	0.50771	0.454000	0.30748	GTC		PASS	0.572	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		3	38	3	38	---	---	---	---
C5orf49	134121	broad.mit.edu	37	5	7832066	7832066	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:7832066T>A	ENST00000399810.2	-	3	809	c.341A>T	c.(340-342)aAc>aTc	p.N114I	C5orf49_ENST00000509627.1_Missense_Mutation_p.N112I	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	114								p.N114I(1)		large_intestine(3)|lung(5)|skin(1)	9						AAAGTCCCGGTTTAGGGGCTC	0.547																																						uc003jea.3																			1	Substitution - Missense(1)		lung(1)		0						c.(340-342)AAC>ATC		hypothetical protein LOC134121							145.0	151.0	149.0					5																	7832066		2002	4161	6163	SO:0001583	missense	134121							g.chr5:7832066T>A		CCDS43300.1	5p15.31	2008-07-16			ENSG00000215217	ENSG00000215217			27028	protein-coding gene	gene with protein product						12477932	Standard	NM_001089584		Approved	LOC134121	uc003jea.5	A4QMS7	OTTHUMG00000161897	ENST00000399810.2:c.341A>T	5.37:g.7832066T>A	ENSP00000382708:p.Asn114Ile						p.N114I	NM_001089584	NP_001083053	A4QMS7	CE049_HUMAN			3	471	-			114						Missense_Mutation	SNP	ENST00000399810.2	37	c.341A>T	CCDS43300.1	.	.	.	.	.	.	.	.	.	.	T	6.559	0.471389	0.12461	.	.	ENSG00000215217	ENST00000399810;ENST00000509627	T;T	0.31769	1.48;1.48	4.72	-0.68	0.11346	.	.	.	.	.	T	0.22003	0.0530	L	0.51422	1.61	0.09310	N	0.999999	B	0.24258	0.1	B	0.24848	0.056	T	0.31503	-0.9941	9	0.39692	T	0.17	-32.2268	1.1789	0.01841	0.1489:0.1728:0.1544:0.524	.	114	A4QMS7	CE049_HUMAN	I	114;112	ENSP00000382708:N114I;ENSP00000426019:N112I	ENSP00000382708:N114I	N	-	2	0	C5orf49	7885066	0.595000	0.26857	0.025000	0.17156	0.002000	0.02628	0.186000	0.16978	-0.038000	0.13624	-0.388000	0.06559	AAC		PASS	0.547	C5orf49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366322.1	NM_001089584		11	327	11	327	---	---	---	---
DROSHA	29102	broad.mit.edu	37	5	31511217	31511217	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:31511217C>A	ENST00000511367.2	-	8	1601	c.1357G>T	c.(1357-1359)Ggg>Tgg	p.G453W	DROSHA_ENST00000442743.1_Missense_Mutation_p.G416W|DROSHA_ENST00000513349.1_Missense_Mutation_p.G416W|DROSHA_ENST00000344624.3_Missense_Mutation_p.G453W	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	453					defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.G453W(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						TGCCTGCTCCCCAACTCCTCC	0.448																																						uc003jhg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1357-1359)GGG>TGG		ribonuclease III, nuclear isoform 1							116.0	110.0	112.0					5																	31511217		1954	4145	6099	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31511217C>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.1357G>T	5.37:g.31511217C>A	ENSP00000425979:p.Gly453Trp					RNASEN_uc003jhh.2_Missense_Mutation_p.G416W|RNASEN_uc003jhi.2_Missense_Mutation_p.G416W|RNASEN_uc010iui.1_Missense_Mutation_p.G376W	p.G453W	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			8	1716	-			453					E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.1357G>T	CCDS47195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.124260|5.124260	0.94429|0.94429	.|.	.|.	ENSG00000113360|ENSG00000113360	ENST00000512076|ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	.|T;T;T;T	.|0.48522	.|1.39;1.39;0.81;0.81	6.16|6.16	6.16|6.16	0.99307|0.99307	.|.	0.048643|0.048643	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.66228|0.66228	0.2768|0.2768	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;0.999;1.0	.|D;D;D	.|0.71870	.|0.975;0.944;0.963	T|T	0.64334|0.64334	-0.6432|-0.6432	6|10	.|0.72032	.|D	.|0.01	-23.9312|-23.9312	20.8598|20.8598	0.99761|0.99761	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|385;416;453	.|Q9NRR4-2;E7EMP9;Q9NRR4	.|.;.;RNC_HUMAN	V|W	214|453;453;416;416;378;409	.|ENSP00000425979:G453W;ENSP00000339845:G453W;ENSP00000409335:G416W;ENSP00000424161:G416W	.|ENSP00000265075:G378W	G|G	-|-	2|1	0|0	DROSHA|DROSHA	31546974|31546974	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.761000|5.761000	0.68801|0.68801	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GGG|GGG		PASS	0.448	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235		59	69	59	69	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32000253	32000253	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:32000253G>T	ENST00000438447.1	+	5	1518	c.1130G>T	c.(1129-1131)aGg>aTg	p.R377M	PDZD2_ENST00000282493.3_Missense_Mutation_p.R377M			O15018	PDZD2_HUMAN	PDZ domain containing 2	377	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.R377M(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGGGATGGCAGGCTGTCCTTA	0.547																																						uc003jhl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(1129-1131)AGG>ATG		PDZ domain containing 2							88.0	77.0	81.0					5																	32000253		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32000253G>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1130G>T	5.37:g.32000253G>T	ENSP00000402033:p.Arg377Met					PDZD2_uc003jhm.2_Missense_Mutation_p.R377M|PDZD2_uc011cnx.1_Missense_Mutation_p.R203M	p.R377M	NM_178140	NP_835260	O15018	PDZD2_HUMAN			5	1518	+			377			PDZ 2.		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.1130G>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638565	0.87760	.	.	ENSG00000133401	ENST00000438447;ENST00000282493	T;T	0.44881	0.91;0.91	5.55	5.55	0.83447	PDZ/DHR/GLGF (4);	0.000000	0.52532	D	0.000079	T	0.72391	0.3454	M	0.91510	3.215	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.97110	0.967;1.0	T	0.78267	-0.2270	10	0.62326	D	0.03	.	17.0708	0.86573	0.0:0.0:1.0:0.0	.	203;377	B4E3P2;O15018	.;PDZD2_HUMAN	M	377	ENSP00000402033:R377M;ENSP00000282493:R377M	ENSP00000282493:R377M	R	+	2	0	PDZD2	32036010	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.941000	0.92964	2.618000	0.88619	0.555000	0.69702	AGG		PASS	0.547	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			21	48	21	48	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32059445	32059445	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:32059445G>C	ENST00000438447.1	+	13	2689	c.2301G>C	c.(2299-2301)aaG>aaC	p.K767N	PDZD2_ENST00000282493.3_Missense_Mutation_p.K767N			O15018	PDZD2_HUMAN	PDZ domain containing 2	767	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.K767N(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAGTGGCCAAGATGGAGAGCA	0.448																																						uc003jhl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(2299-2301)AAG>AAC		PDZ domain containing 2							103.0	88.0	93.0					5																	32059445		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32059445G>C	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2301G>C	5.37:g.32059445G>C	ENSP00000402033:p.Lys767Asn					PDZD2_uc003jhm.2_Missense_Mutation_p.K767N|PDZD2_uc011cnx.1_Missense_Mutation_p.K593N	p.K767N	NM_178140	NP_835260	O15018	PDZD2_HUMAN			13	2689	+			767			PDZ 4.		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.2301G>C	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.908996	0.72868	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.29655	1.56;1.56	5.79	5.79	0.91817	PDZ/DHR/GLGF (4);	0.000000	0.48767	D	0.000180	T	0.47875	0.1469	L	0.36672	1.1	0.46317	D	0.998986	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.38222	-0.9671	10	0.59425	D	0.04	.	17.516	0.87773	0.0:0.0:1.0:0.0	.	593;767	B4E3P2;O15018	.;PDZD2_HUMAN	N	767;586;767	ENSP00000402033:K767N;ENSP00000282493:K767N	ENSP00000282493:K767N	K	+	3	2	PDZD2	32095202	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.398000	0.44486	2.726000	0.93360	0.655000	0.94253	AAG		PASS	0.448	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			6	82	6	82	---	---	---	---
RANBP3L	202151	broad.mit.edu	37	5	36249793	36249793	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:36249793G>A	ENST00000296604.3	-	14	1846	c.1361C>T	c.(1360-1362)tCt>tTt	p.S454F	RANBP3L_ENST00000502994.1_Missense_Mutation_p.S479F	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	454					intracellular transport (GO:0046907)			p.S454F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AGTCCAACTAGAAGGATCTGT	0.294																																						uc003jkh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1360-1362)TCT>TTT		RAN binding protein 3-like isoform 2							103.0	99.0	100.0					5																	36249793		2203	4300	6503	SO:0001583	missense	202151				intracellular transport			g.chr5:36249793G>A	BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.1361C>T	5.37:g.36249793G>A	ENSP00000296604:p.Ser454Phe					RANBP3L_uc011cow.1_Missense_Mutation_p.S479F	p.S454F	NM_145000	NP_659437	Q86VV4	RNB3L_HUMAN	Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)		14	1854	-	all_lung(31;4.52e-05)		454					B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	c.1361C>T	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148223	0.57151	.	.	ENSG00000164188	ENST00000296604;ENST00000502994	T;T	0.38240	1.22;1.15	5.42	3.62	0.41486	.	0.193694	0.37095	N	0.002244	T	0.33381	0.0861	L	0.42245	1.32	0.80722	D	1	D;D	0.55605	0.972;0.972	P;P	0.47346	0.544;0.544	T	0.09640	-1.0665	10	0.87932	D	0	-8.5144	7.1011	0.25338	0.0874:0.0:0.7422:0.1705	.	479;454	E9PGP9;Q86VV4	.;RNB3L_HUMAN	F	454;479	ENSP00000296604:S454F;ENSP00000421853:S479F	ENSP00000296604:S454F	S	-	2	0	RANBP3L	36285550	1.000000	0.71417	0.983000	0.44433	0.984000	0.73092	1.868000	0.39509	0.775000	0.33450	0.650000	0.86243	TCT		PASS	0.294	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000		4	108	4	108	---	---	---	---
RPL37	6167	broad.mit.edu	37	5	40834286	40834286	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:40834286A>G	ENST00000274242.5	-	3	370	c.221T>C	c.(220-222)tTc>tCc	p.F74S	RPL37_ENST00000509877.1_Intron|SNORD72_ENST00000390994.1_RNA|RPL37_ENST00000504562.1_5'UTR|RPL37_ENST00000508493.1_Missense_Mutation_p.F74S	NM_000997.4	NP_000988.1	P61927	RL37_HUMAN	ribosomal protein L37	74					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.F74S(1)		lung(3)|ovary(1)	4		Breast(839;0.238)				ACTGTACCTGAATCTGCGGTA	0.408																																					Colon(188;1411 2035 4978 19588 31462)	uc003jme.1																			1	Substitution - Missense(1)		lung(1)		0						c.(220-222)TTC>TCC		ribosomal protein L37							117.0	105.0	109.0					5																	40834286		2203	4300	6503	SO:0001583	missense	6167				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	metal ion binding|protein binding|rRNA binding|structural constituent of ribosome	g.chr5:40834286A>G	L11567	CCDS3934.1	5p13.1	2013-09-23			ENSG00000145592	ENSG00000145592		"""L ribosomal proteins"""	10347	protein-coding gene	gene with protein product	"""60S ribosomal protein L37a"""	604181				7545944, 9582194	Standard	NM_000997		Approved	L37	uc003jme.1	P61927	OTTHUMG00000094774	ENST00000274242.5:c.221T>C	5.37:g.40834286A>G	ENSP00000274242:p.Phe74Ser					SNORD72_uc003jmf.1_5'Flank	p.F74S	NM_000997	NP_000988	P61927	RL37_HUMAN			3	321	-		Breast(839;0.238)	74					B2R4H2|P02403|Q6IBB4|Q99883	Missense_Mutation	SNP	ENST00000274242.5	37	c.221T>C	CCDS3934.1	.	.	.	.	.	.	.	.	.	.	A	35	5.420664	0.96111	.	.	ENSG00000145592	ENST00000274242;ENST00000508493	T	0.52526	0.66	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.60599	0.2281	.	.	.	0.80722	D	1	D	0.56035	0.974	P	0.53224	0.721	T	0.66681	-0.5862	9	0.87932	D	0	.	15.0829	0.72127	1.0:0.0:0.0:0.0	.	74	P61927	RL37_HUMAN	S	74	ENSP00000274242:F74S	ENSP00000274242:F74S	F	-	2	0	RPL37	40870043	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.305000	0.96197	1.971000	0.57363	0.460000	0.39030	TTC		PASS	0.408	RPL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000211583.2	NM_000997		5	114	5	114	---	---	---	---
C6	729	broad.mit.edu	37	5	41199881	41199881	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:41199881C>G	ENST00000263413.3	-	4	698	c.434G>C	c.(433-435)cGc>cCc	p.R145P	C6_ENST00000337836.5_Missense_Mutation_p.R145P	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	145	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.R145P(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTGTCACAGCGAAATTTATT	0.413																																						uc003jmk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(433-435)CGC>CCC		complement component 6 precursor							119.0	120.0	119.0					5																	41199881		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41199881C>G	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.434G>C	5.37:g.41199881C>G	ENSP00000263413:p.Arg145Pro					C6_uc003jml.1_Missense_Mutation_p.R145P	p.R145P	NM_000065	NP_000056	P13671	CO6_HUMAN			4	644	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	145			LDL-receptor class A.			Missense_Mutation	SNP	ENST00000263413.3	37	c.434G>C	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777168	0.70107	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.96232	-3.95;-3.95	6.02	2.83	0.33086	.	0.397022	0.30020	N	0.010602	D	0.94732	0.8300	L	0.54965	1.715	0.32480	N	0.541564	P	0.50443	0.935	P	0.52758	0.708	D	0.92897	0.6336	10	0.48119	T	0.1	-10.7302	2.3976	0.04394	0.2334:0.4263:0.0:0.3403	.	145	P13671	CO6_HUMAN	P	145	ENSP00000338861:R145P;ENSP00000263413:R145P	ENSP00000263413:R145P	R	-	2	0	C6	41235638	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.251000	0.32862	0.832000	0.34804	-0.157000	0.13467	CGC		PASS	0.413	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			34	105	34	105	---	---	---	---
EMB	133418	broad.mit.edu	37	5	49699253	49699253	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:49699253G>C	ENST00000303221.5	-	6	851	c.636C>G	c.(634-636)atC>atG	p.I212M	EMB_ENST00000508934.1_Missense_Mutation_p.I158M|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000514111.1_Missense_Mutation_p.I162M	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	212	Ig-like V-type 2.				cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)	p.I212M(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				ATGTTCCATTGATCACATATT	0.363																																						uc003jom.2																			1	Substitution - Missense(1)		lung(1)		0						c.(634-636)ATC>ATG		embigin precursor							90.0	84.0	86.0					5																	49699253		2203	4299	6502	SO:0001583	missense	133418					integral to membrane		g.chr5:49699253G>C	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.636C>G	5.37:g.49699253G>C	ENSP00000302289:p.Ile212Met					EMB_uc010ivq.2_Missense_Mutation_p.I6M|EMB_uc003jol.2_Missense_Mutation_p.I143M|EMB_uc011cpy.1_Missense_Mutation_p.I162M|EMB_uc010ivr.2_Missense_Mutation_p.I158M	p.I212M	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN			6	885	-	Lung SC(58;0.218)	Lung NSC(810;0.0795)	212			Extracellular (Potential).|Ig-like V-type 2.		B7Z6S3|B7Z902	Missense_Mutation	SNP	ENST00000303221.5	37	c.636C>G	CCDS3953.1	.	.	.	.	.	.	.	.	.	.	G	9.790	1.177607	0.21787	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000508934;ENST00000514111	T;T;T	0.68624	-0.34;-0.34;-0.34	4.79	0.703	0.18116	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.293880	0.36815	N	0.002389	T	0.58090	0.2098	M	0.76328	2.33	0.09310	N	1	P;B	0.44429	0.835;0.362	B;B	0.40864	0.342;0.207	T	0.54549	-0.8277	9	.	.	.	-2.8067	1.9755	0.03415	0.1705:0.2961:0.3813:0.1521	.	158;212	D6RDX7;Q6PCB8	.;EMB_HUMAN	M	212;184;158;162	ENSP00000302289:I212M;ENSP00000425215:I158M;ENSP00000426404:I162M	.	I	-	3	3	EMB	49735010	0.005000	0.15991	0.003000	0.11579	0.005000	0.04900	-0.128000	0.10531	-0.082000	0.12640	-0.510000	0.04470	ATC		PASS	0.363	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449		3	76	3	76	---	---	---	---
IPO11	51194	broad.mit.edu	37	5	61778973	61778973	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:61778973A>G	ENST00000325324.6	+	10	1043	c.874A>G	c.(874-876)Att>Gtt	p.I292V	IPO11_ENST00000409296.3_Missense_Mutation_p.I332V|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	292					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.I292V(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TACTCCTCTAATTCAGAGATC	0.299																																						uc003jtc.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)	4						c.(874-876)ATT>GTT		Ran binding protein 11 isoform 2							81.0	83.0	82.0					5																	61778973		2202	4297	6499	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61778973A>G	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.874A>G	5.37:g.61778973A>G	ENSP00000316651:p.Ile292Val					IPO11_uc011cqr.1_Missense_Mutation_p.I332V|IPO11_uc003jtb.1_Missense_Mutation_p.I292V	p.I292V	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	10	1064	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	292					A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.874A>G	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	A	17.97	3.518192	0.64634	.	.	ENSG00000086200	ENST00000325324;ENST00000409296	T;T	0.66815	-0.23;-0.23	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.044949	0.85682	D	0.000000	T	0.63988	0.2558	L	0.49455	1.56	0.80722	D	1	P;P	0.49358	0.923;0.874	P;B	0.45119	0.47;0.279	T	0.61431	-0.7064	10	0.19590	T	0.45	.	15.6779	0.77341	1.0:0.0:0.0:0.0	.	332;292	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	V	292;332	ENSP00000316651:I292V;ENSP00000386992:I332V	ENSP00000316651:I292V	I	+	1	0	IPO11	61814730	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.556000	0.90697	2.153000	0.67306	0.528000	0.53228	ATT		PASS	0.299	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		8	75	8	75	---	---	---	---
IPO11	51194	broad.mit.edu	37	5	61802105	61802105	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:61802105T>G	ENST00000325324.6	+	19	1872	c.1703T>G	c.(1702-1704)cTg>cGg	p.L568R	IPO11_ENST00000409296.3_Missense_Mutation_p.L608R|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	568					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.L568R(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TTTCAGTTACTGCAGCAAGTT	0.328																																						uc003jtc.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)	4						c.(1702-1704)CTG>CGG		Ran binding protein 11 isoform 2							91.0	86.0	87.0					5																	61802105		2203	4300	6503	SO:0001583	missense	51194					cytoplasm|nucleus	protein binding	g.chr5:61802105T>G	AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1703T>G	5.37:g.61802105T>G	ENSP00000316651:p.Leu568Arg					IPO11_uc011cqr.1_Missense_Mutation_p.L608R|IPO11_uc003jtd.1_RNA	p.L568R	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN		Lung(70;0.0613)	19	1893	+		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)	568			HEAT 7.		A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	ENST00000325324.6	37	c.1703T>G	CCDS34167.1	.	.	.	.	.	.	.	.	.	.	T	23.1	4.378731	0.82682	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000540553	T;T	0.57595	0.39;0.39	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76371	0.3978	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81210	-0.1036	10	0.87932	D	0	.	15.5887	0.76506	0.0:0.0:0.0:1.0	.	608;568	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	R	568;608;138	ENSP00000316651:L568R;ENSP00000386992:L608R	ENSP00000316651:L568R	L	+	2	0	IPO11	61837862	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	7.093000	0.76937	2.214000	0.71695	0.533000	0.62120	CTG		PASS	0.328	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1	NM_016338		12	66	12	66	---	---	---	---
F2RL1	2150	broad.mit.edu	37	5	76129526	76129526	+	Missense_Mutation	SNP	G	G	A	rs149001132		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:76129526G>A	ENST00000296677.4	+	2	1300	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	365					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.R365H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGAAGTGTCCGCACTGTAAAG	0.448																																						uc003keo.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1093-1095)CGC>CAC		coagulation factor II (thrombin) receptor-like 1		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	221.0	222.0	222.0		1094	4.4	0.6	5	dbSNP_134	222	0,8600		0,0,4300	no	missense	F2RL1	NM_005242.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	365/398	76129526	1,13005	2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76129526G>A	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.1094G>A	5.37:g.76129526G>A	ENSP00000296677:p.Arg365His						p.R365H	NM_005242	NP_005233	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	1269	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	365			Cytoplasmic (Potential).		Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.1094G>A	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192238	0.58017	2.27E-4	0.0	ENSG00000164251	ENST00000296677	T	0.40225	1.04	5.3	4.43	0.53597	.	0.111618	0.64402	D	0.000013	T	0.62405	0.2425	M	0.69823	2.125	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.63726	-0.6572	9	.	.	.	-18.6704	13.8882	0.63721	0.0735:0.0:0.9265:0.0	.	365	P55085	PAR2_HUMAN	H	365	ENSP00000296677:R365H	.	R	+	2	0	F2RL1	76165282	1.000000	0.71417	0.640000	0.29408	0.271000	0.26615	9.808000	0.99193	1.236000	0.43740	-0.136000	0.14681	CGC		PASS	0.448	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			13	234	13	234	---	---	---	---
VCAN	1462	broad.mit.edu	37	5	82817981	82817981	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:82817981C>T	ENST00000265077.3	+	7	4421	c.3856C>T	c.(3856-3858)Cct>Tct	p.P1286S	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.P1238S|VCAN_ENST00000342785.4_Missense_Mutation_p.P1286S|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1286	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.P1286S(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TTCAAGTCCTCCTGCTACACA	0.473																																						uc003kii.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16						c.(3856-3858)CCT>TCT		versican isoform 1 precursor							80.0	80.0	80.0					5																	82817981		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82817981C>T	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3856C>T	5.37:g.82817981C>T	ENSP00000265077:p.Pro1286Ser					VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.P1286S|VCAN_uc003kik.3_Intron	p.P1286S	NM_004385	NP_004376	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	7	4212	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1286			GAG-alpha (glucosaminoglycan attachment domain).		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.3856C>T	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.709271	0.00094	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	D;D;D	0.84516	-1.62;-1.84;-1.86	5.69	-4.4	0.03600	.	1.495520	0.03613	N	0.235140	T	0.69342	0.3100	N	0.26042	0.785	0.09310	N	1	P;B	0.36110	0.537;0.005	B;B	0.35470	0.203;0.005	T	0.62020	-0.6942	10	0.02654	T	1	.	5.2905	0.15725	0.1237:0.1572:0.0911:0.628	.	1286;1286	P13611-3;P13611	.;CSPG2_HUMAN	S	1286;1286;1238	ENSP00000265077:P1286S;ENSP00000342768:P1286S;ENSP00000425959:P1238S	ENSP00000265077:P1286S	P	+	1	0	VCAN	82853737	0.010000	0.17322	0.001000	0.08648	0.020000	0.10135	-0.262000	0.08682	-0.457000	0.07033	-1.099000	0.02127	CCT		PASS	0.473	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		4	87	4	87	---	---	---	---
SLCO6A1	133482	broad.mit.edu	37	5	101834440	101834440	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:101834440C>T	ENST00000506729.1	-	1	280	c.109G>A	c.(109-111)Gga>Aga	p.G37R	SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G37R|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G37R|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G37R|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G37R			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.G37R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTCGGGGTTCCCTTGGCCCTC	0.602																																						uc003knn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|central_nervous_system(1)	7						c.(109-111)GGA>AGA		solute carrier organic anion transporter family,							110.0	125.0	120.0					5																	101834440		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834440C>T	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.109G>A	5.37:g.101834440C>T	ENSP00000421339:p.Gly37Arg					SLCO6A1_uc003kno.2_Missense_Mutation_p.G37R|SLCO6A1_uc003knp.2_Missense_Mutation_p.G37R|SLCO6A1_uc003knq.2_Missense_Mutation_p.G37R	p.G37R	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	281	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	37			Cytoplasmic (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.109G>A	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	8.665	0.901567	0.17760	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.55234	0.77;0.77;0.66;0.53;0.53	3.11	0.123	0.14709	.	58.513900	0.00166	N	0.000000	T	0.34193	0.0889	N	0.14661	0.345	0.09310	N	1	B;B;B	0.10296	0.003;0.001;0.002	B;B;B	0.06405	0.002;0.002;0.001	T	0.26121	-1.0112	10	0.62326	D	0.03	.	1.6345	0.02739	0.2159:0.4466:0.2105:0.127	.	37;37;37	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	R	37	ENSP00000421339:G37R;ENSP00000369135:G37R;ENSP00000373671:G37R;ENSP00000421990:G37R;ENSP00000369138:G37R	ENSP00000369135:G37R	G	-	1	0	SLCO6A1	101862339	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.268000	0.08607	0.008000	0.14787	0.484000	0.47621	GGA		PASS	0.602	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488		112	164	112	164	---	---	---	---
CEP120	153241	broad.mit.edu	37	5	122708355	122708355	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:122708355T>G	ENST00000306467.5	-	17	2774	c.2470A>C	c.(2470-2472)Acc>Ccc	p.T824P	CEP120_ENST00000306481.6_Missense_Mutation_p.T798P|CEP120_ENST00000328236.5_Missense_Mutation_p.T824P			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	824					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.T824P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TTTTCCAAGGTGAGAAGATTT	0.299																																						uc003ktk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2470-2472)ACC>CCC		coiled-coil domain containing 100							141.0	132.0	135.0					5																	122708355		2202	4300	6502	SO:0001583	missense	153241					centrosome		g.chr5:122708355T>G	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2470A>C	5.37:g.122708355T>G	ENSP00000303058:p.Thr824Pro					CEP120_uc011cwq.1_Missense_Mutation_p.T633P	p.T824P	NM_153223	NP_694955	Q8N960	CE120_HUMAN			18	2552	-			824			Potential.		Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.2470A>C	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	T	21.0	4.088031	0.76642	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.97	4.97	0.65823	.	0.225081	0.45361	D	0.000370	T	0.44201	0.1282	M	0.62723	1.935	0.80722	D	1	D	0.62365	0.991	P	0.53861	0.736	T	0.29852	-0.9998	10	0.33141	T	0.24	-6.5444	15.355	0.74421	0.0:0.0:0.0:1.0	.	824	Q8N960	CE120_HUMAN	P	824;824;798;798	ENSP00000303058:T824P;ENSP00000327504:T824P;ENSP00000307419:T798P;ENSP00000421620:T798P	ENSP00000303058:T824P	T	-	1	0	CEP120	122736254	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.419000	0.59835	2.163000	0.67991	0.533000	0.62120	ACC		PASS	0.299	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	NM_153223		32	54	32	54	---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	128844873	128844873	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:128844873C>T	ENST00000274487.4	+	3	978	c.833C>T	c.(832-834)tCc>tTc	p.S278F	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	278						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S278F(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CAGAAAAGGTCCATGGAGGAA	0.398																																						uc003kvb.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(832-834)TCC>TTC		ADAM metallopeptidase with thrombospondin type 1							123.0	111.0	115.0					5																	128844873		2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128844873C>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.833C>T	5.37:g.128844873C>T	ENSP00000274487:p.Ser278Phe					ADAMTS19_uc003kvc.1_RNA	p.S278F	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	3	833	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	278						Missense_Mutation	SNP	ENST00000274487.4	37	c.833C>T	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789245	0.70337	.	.	ENSG00000145808	ENST00000274487	T	0.68025	-0.3	4.42	4.42	0.53409	.	0.172056	0.40222	N	0.001148	T	0.62122	0.2402	N	0.14661	0.345	0.43902	D	0.996537	D	0.57899	0.981	P	0.54174	0.744	T	0.61168	-0.7117	9	.	.	.	.	18.3325	0.90274	0.0:1.0:0.0:0.0	.	278	Q8TE59	ATS19_HUMAN	F	278	ENSP00000274487:S278F	.	S	+	2	0	ADAMTS19	128872772	0.999000	0.42202	0.973000	0.42090	0.744000	0.42396	5.266000	0.65525	2.741000	0.93983	0.650000	0.86243	TCC		PASS	0.398	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		9	63	9	63	---	---	---	---
PCDHA12	56137	broad.mit.edu	37	5	140257180	140257180	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:140257180C>A	ENST00000398631.2	+	1	2123	c.2123C>A	c.(2122-2124)tCc>tAc	p.S708Y	PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	708					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S708Y(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCGGTGTCCAGCCTGCTG	0.667																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2122-2124)TCC>TAC		protocadherin alpha 12 isoform 1 precursor							41.0	41.0	41.0					5																	140257180		2203	4299	6502	SO:0001583	missense	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140257180C>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2123C>A	5.37:g.140257180C>A	ENSP00000381628:p.Ser708Tyr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.S708Y	p.S708Y	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2250	+			708			Helical; (Potential).		O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.2123C>A	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288240	0.80803	.	.	ENSG00000251664	ENST00000398631	T	0.22134	1.97	4.94	4.05	0.47172	.	.	.	.	.	T	0.60222	0.2252	H	0.96175	3.78	0.30564	N	0.764179	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	T	0.72207	-0.4360	9	0.87932	D	0	.	14.7168	0.69275	0.0:0.8539:0.1461:0.0	.	708;708	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	Y	708	ENSP00000381628:S708Y	ENSP00000381628:S708Y	S	+	2	0	PCDHA12	140237364	0.000000	0.05858	0.999000	0.59377	0.944000	0.59088	0.521000	0.22893	1.036000	0.39998	0.655000	0.94253	TCC		PASS	0.667	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		18	23	18	23	---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140553393	140553393	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:140553393G>A	ENST00000231137.3	+	1	1151	c.977G>A	c.(976-978)gGg>gAg	p.G326E		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	326	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G326E(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACGGCGGCGGGCTTTCTGGA	0.433																																						uc003lit.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(976-978)GGG>GAG		protocadherin beta 7 precursor							53.0	56.0	55.0					5																	140553393		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553393G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.977G>A	5.37:g.140553393G>A	ENSP00000231137:p.Gly326Glu						p.G326E	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1151	+			326			Extracellular (Potential).|Cadherin 3.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.977G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881817	0.72294	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.01725	4.67	4.61	4.61	0.57282	Cadherin (6);Cadherin-like (1);	.	.	.	.	T	0.10380	0.0254	M	0.73598	2.24	0.45806	D	0.998689	D	0.76494	0.999	D	0.74023	0.982	T	0.01121	-1.1445	9	0.87932	D	0	.	17.3943	0.87441	0.0:0.0:1.0:0.0	.	326	Q9Y5E2	PCDB7_HUMAN	E	326;109	ENSP00000231137:G326E	ENSP00000231137:G326E	G	+	2	0	PCDHB7	140533577	0.796000	0.28864	0.992000	0.48379	0.895000	0.52256	1.924000	0.40065	2.244000	0.73946	0.650000	0.86243	GGG		PASS	0.433	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		31	35	31	35	---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140723680	140723680	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:140723680G>C	ENST00000253812.6	+	1	80	c.80G>C	c.(79-81)gGa>gCa	p.G27A	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	27					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G27A(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGAAACAGGATCCGGTCAG	0.582											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003ljm.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(79-81)GGA>GCA		protocadherin gamma subfamily A, 3 isoform 1							120.0	133.0	129.0					5																	140723680		2099	4255	6354	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140723680G>C	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.80G>C	5.37:g.140723680G>C	ENSP00000253812:p.Gly27Ala		OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.G27A	p.G27A	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	80	+			27					Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.80G>C	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.986406	0.00443	.	.	ENSG00000254245	ENST00000253812	T	0.42513	0.97	5.54	3.66	0.41972	Cadherin (1);	0.697624	0.10626	U	0.652739	T	0.32941	0.0846	L	0.41632	1.29	0.09310	N	1	P;P	0.43788	0.817;0.721	P;B	0.46510	0.519;0.32	T	0.16988	-1.0384	10	0.02654	T	1	.	5.0784	0.14644	0.0779:0.1081:0.5599:0.2541	.	27;27	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	A	27	ENSP00000253812:G27A	ENSP00000253812:G27A	G	+	2	0	PCDHGA3	140703864	0.917000	0.31117	0.018000	0.16275	0.500000	0.33767	1.519000	0.35888	1.465000	0.48006	0.655000	0.94253	GGA		PASS	0.582	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		82	94	82	94	---	---	---	---
PCDHGA11	56105	broad.mit.edu	37	5	140802625	140802625	+	Nonsense_Mutation	SNP	A	A	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:140802625A>T	ENST00000398587.2	+	1	1864	c.1831A>T	c.(1831-1833)Aag>Tag	p.K611*	PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Nonsense_Mutation_p.K611*|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11	611	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K611*(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCCTGCTTAAGGCCAGCGA	0.662																																						uc003lkq.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1831-1833)AAG>TAG		protocadherin gamma subfamily A, 11 isoform 1							51.0	62.0	58.0					5																	140802625		2203	4300	6503	SO:0001587	stop_gained	56105				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140802625A>T	AF152505	CCDS47294.1, CCDS54930.1, CCDS75345.1	5q31	2010-01-26			ENSG00000253873	ENSG00000253873		"""Cadherins / Protocadherins : Clustered"""	8698	other	protocadherin		606298				10380929	Standard	NM_018914		Approved	PCDH-GAMMA-A11		Q9Y5H2	OTTHUMG00000164055	ENST00000398587.2:c.1831A>T	5.37:g.140802625A>T	ENSP00000381589:p.Lys611*					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_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Nonsense_Mutation_p.K611*|PCDHGA11_uc003lkp.1_Nonsense_Mutation_p.K611*	p.K611*	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2089	+			611			Extracellular (Potential).|Cadherin 6.		B7ZVY8|Q9Y5D8|Q9Y5D9	Nonsense_Mutation	SNP	ENST00000398587.2	37	c.1831A>T	CCDS47294.1	.	.	.	.	.	.	.	.	.	.	a	34	5.365577	0.95900	.	.	ENSG00000253873	ENST00000398587;ENST00000518882	.	.	.	5.37	5.37	0.77165	.	0.000000	0.29767	U	0.011250	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.8001	0.18410	0.5957:0.3168:0.0875:0.0	.	.	.	.	X	611	.	ENSP00000381589:K611X	K	+	1	0	PCDHGA11	140782809	0.000000	0.05858	1.000000	0.80357	0.689000	0.40095	-0.342000	0.07801	2.042000	0.60477	0.459000	0.35465	AAG		PASS	0.662	PCDHGA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376974.1	NM_018914		35	42	35	42	---	---	---	---
CCNJL	79616	broad.mit.edu	37	5	159680516	159680516	+	Missense_Mutation	SNP	C	C	T	rs199879462		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:159680516C>T	ENST00000393977.3	-	7	1462	c.1177G>A	c.(1177-1179)Gtg>Atg	p.V393M	CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.V345M	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	393						nucleus (GO:0005634)		p.V393M(1)		endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGACGGGCACGGGACACATA	0.622																																						uc003lyb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1177-1179)GTG>ATG		cyclin J-like		C	MET/VAL	3,4295		0,3,2146	80.0	88.0	85.0		1177	-7.4	0.1	5		85	0,8510		0,0,4255	yes	missense	CCNJL	NM_024565.5	21	0,3,6401	TT,TC,CC		0.0,0.0698,0.0234	benign	393/436	159680516	3,12805	2149	4255	6404	SO:0001583	missense	79616					nucleus		g.chr5:159680516C>T	BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.1177G>A	5.37:g.159680516C>T	ENSP00000377547:p.Val393Met					CCNJL_uc011dee.1_Missense_Mutation_p.V345M|CCNJL_uc003lyc.1_RNA	p.V393M	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		7	1429	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	393					Q6ZN43|Q9H7W8	Missense_Mutation	SNP	ENST00000393977.3	37	c.1177G>A	CCDS4350.2	.	.	.	.	.	.	.	.	.	.	C	3.904	-0.021472	0.07634	6.98E-4	0.0	ENSG00000135083	ENST00000393977;ENST00000257536	T;T	0.32988	1.85;1.43	5.44	-7.4	0.01397	.	0.770745	0.12136	N	0.496269	T	0.14570	0.0352	N	0.16478	0.41	0.80722	D	1	B;B	0.20368	0.006;0.044	B;B	0.12837	0.007;0.008	T	0.04017	-1.0984	10	0.38643	T	0.18	-4.5717	10.6151	0.45445	0.0:0.2722:0.1319:0.5959	.	345;393	B4DZA8;Q8IV13	.;CCNJL_HUMAN	M	393;345	ENSP00000377547:V393M;ENSP00000257536:V345M	ENSP00000257536:V345M	V	-	1	0	CCNJL	159613094	0.000000	0.05858	0.131000	0.22000	0.061000	0.15899	-3.216000	0.00554	-1.361000	0.02169	-0.794000	0.03295	GTG		PASS	0.622	CCNJL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252674.1	NM_024565		7	90	7	90	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169081483	169081483	+	Silent	SNP	G	G	T	rs531692992		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr5:169081483G>T	ENST00000256935.8	+	2	200	c.120G>T	c.(118-120)acG>acT	p.T40T		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	40	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.T40T(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACAGGAGACGTGTGGAGGTG	0.582																																						uc003maf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(118-120)ACG>ACT		dedicator of cytokinesis 2							68.0	68.0	68.0					5																	169081483		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169081483G>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.120G>T	5.37:g.169081483G>T						DOCK2_uc011der.1_RNA	p.T40T	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	200	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	40			SH3.		Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.120G>T	CCDS4371.1																																																																																				PASS	0.582	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		39	39	39	39	---	---	---	---
C6orf195	154386	broad.mit.edu	37	6	2623807	2623807	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:2623807C>A	ENST00000296847.3	-	3	773	c.250G>T	c.(250-252)Gcc>Tcc	p.A84S		NM_152554.2	NP_689767.2	Q96MT4	CF195_HUMAN	chromosome 6 open reading frame 195	84								p.A84S(1)		cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				ATGCTCCAGGCCTGACAGCAA	0.597																																						uc003mtw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)GCC>TCC		hypothetical protein LOC154386							59.0	66.0	64.0					6																	2623807		2044	4185	6229	SO:0001583	missense	154386							g.chr6:2623807C>A	AK056496	CCDS43416.1	6p25.2	2008-10-21			ENSG00000164385	ENSG00000164385			21600	protein-coding gene	gene with protein product							Standard	NM_152554		Approved	FLJ31934, bA145H9.2	uc003mtw.2	Q96MT4	OTTHUMG00000014122	ENST00000296847.3:c.250G>T	6.37:g.2623807C>A	ENSP00000296847:p.Ala84Ser						p.A84S	NM_152554	NP_689767	Q96MT4	CF195_HUMAN			3	1235	-	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	84					Q3SY08|Q3SY09|Q3SY10|Q5TAW4	Missense_Mutation	SNP	ENST00000296847.3	37	c.250G>T	CCDS43416.1	.	.	.	.	.	.	.	.	.	.	C	6.014	0.370886	0.11409	.	.	ENSG00000164385	ENST00000296847	T	0.37752	1.18	3.67	-7.34	0.01427	.	.	.	.	.	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.12837	0.008	T	0.24799	-1.0150	9	0.87932	D	0	.	1.5865	0.02645	0.3189:0.3356:0.2028:0.1427	.	84	Q96MT4	CF195_HUMAN	S	84	ENSP00000296847:A84S	ENSP00000296847:A84S	A	-	1	0	C6orf195	2568806	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-2.915000	0.00696	-3.314000	0.00189	-0.302000	0.09304	GCC		PASS	0.597	C6orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039633.1	NM_152554		43	40	43	40	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7583049	7583049	+	Missense_Mutation	SNP	C	C	T	rs550818559	byFrequency	TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:7583049C>T	ENST00000379802.3	+	24	5895	c.5554C>T	c.(5554-5556)Cgc>Tgc	p.R1852C	DSP_ENST00000418664.2_Missense_Mutation_p.R1253C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1852	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R1852C(2)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGTGAAACAGCGCCTGGAGTG	0.478													C|||	3	0.000599042	0.0	0.0	5008	,	,		18641	0.0		0.0	False		,,,				2504	0.0031					uc003mxp.1																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	central_nervous_system(6)|ovary(2)|skin(1)	9						c.(5554-5556)CGC>TGC		desmoplakin isoform I							97.0	99.0	98.0					6																	7583049		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583049C>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5554C>T	6.37:g.7583049C>T	ENSP00000369129:p.Arg1852Cys					DSP_uc003mxq.1_Missense_Mutation_p.R1253C	p.R1852C	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	5833	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1852			Central fibrous rod domain.|Potential.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.5554C>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172043	0.78452	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	T;T	0.64803	-0.12;-0.12	5.2	5.2	0.72013	.	0.000000	0.56097	D	0.000027	T	0.67627	0.2913	L	0.43152	1.355	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.68621	0.924;0.959	T	0.68864	-0.5296	10	0.51188	T	0.08	.	18.7596	0.91845	0.0:1.0:0.0:0.0	.	1300;1852	Q4LE79;P15924	.;DESP_HUMAN	C	1852;1253	ENSP00000369129:R1852C;ENSP00000396591:R1253C	ENSP00000369129:R1852C	R	+	1	0	DSP	7528048	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.818000	0.86416	2.410000	0.81850	0.650000	0.86243	CGC		PASS	0.478	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		11	118	11	118	---	---	---	---
SLC17A3	10786	broad.mit.edu	37	6	25851025	25851025	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:25851025A>T	ENST00000360657.3	-	6	844	c.559T>A	c.(559-561)Tca>Aca	p.S187T	SLC17A3_ENST00000361703.6_Missense_Mutation_p.S187T|SLC17A3_ENST00000397060.4_Missense_Mutation_p.S265T			O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	187					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|glucose-6-phosphate transport (GO:0015760)|ion transmembrane transport (GO:0034220)|organic acid transport (GO:0015849)|organic anion transport (GO:0015711)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of anion transport (GO:0044070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|efflux transmembrane transporter activity (GO:0015562)|organic anion transmembrane transporter activity (GO:0008514)|sodium:phosphate symporter activity (GO:0005436)|toxin transporter activity (GO:0019534)|urate transmembrane transporter activity (GO:0015143)|voltage-gated anion channel activity (GO:0008308)	p.S187T(1)|p.S265T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						TCTTTTTCTGAGGTGCTTATC	0.413																																						uc003nfi.3																			2	Substitution - Missense(2)		lung(2)		0						c.(559-561)TCA>ACA		solute carrier family 17 (sodium phosphate),							152.0	148.0	149.0					6																	25851025		2203	4300	6503	SO:0001583	missense	10786				glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity	g.chr6:25851025A>T	U90545	CCDS4566.2, CCDS47385.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124564	ENSG00000124564		"""Solute carriers"""	10931	protein-coding gene	gene with protein product		611034	"""solute carrier family 17 (sodium phosphate), member 3"""			9149941	Standard	NM_006632		Approved	NPT4	uc003nfk.4	O00476	OTTHUMG00000014412	ENST00000360657.3:c.559T>A	6.37:g.25851025A>T	ENSP00000353873:p.Ser187Thr					SLC17A3_uc003nfk.3_Missense_Mutation_p.S265T|SLC17A3_uc011djz.1_Missense_Mutation_p.S265T|SLC17A3_uc011dka.1_Missense_Mutation_p.S187T	p.S187T	NM_006632	NP_006623	O00476	NPT4_HUMAN			6	669	-			187					B7WNJ5|B7Z511|Q8WWC7|Q9H533	Missense_Mutation	SNP	ENST00000360657.3	37	c.559T>A	CCDS4566.2	.	.	.	.	.	.	.	.	.	.	A	5.170	0.216884	0.09810	.	.	ENSG00000124564	ENST00000397060;ENST00000360657;ENST00000361703	T;T;T	0.59083	0.29;0.29;0.29	4.81	-1.78	0.07957	Major facilitator superfamily domain, general substrate transporter (1);	0.775970	0.11012	N	0.609347	T	0.12518	0.0304	N	0.13098	0.295	0.09310	N	1	B;B;B;B	0.19583	0.011;0.037;0.018;0.016	B;B;B;B	0.21360	0.021;0.021;0.021;0.034	T	0.32214	-0.9915	10	0.12766	T	0.61	.	5.6283	0.17495	0.213:0.0:0.118:0.669	.	187;246;265;187	B7Z531;B7Z3L7;B7Z511;O00476	.;.;.;NPT4_HUMAN	T	265;187;187	ENSP00000380250:S265T;ENSP00000353873:S187T;ENSP00000355307:S187T	ENSP00000353873:S187T	S	-	1	0	SLC17A3	25959004	0.000000	0.05858	0.100000	0.21137	0.544000	0.35116	-1.337000	0.02657	-0.020000	0.14032	0.477000	0.44152	TCA		PASS	0.413	SLC17A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040070.2			49	56	49	56	---	---	---	---
HIST1H2BN	8341	broad.mit.edu	37	6	27806769	27806769	+	Silent	SNP	C	C	T	rs144906486		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:27806769C>T	ENST00000396980.3	+	1	330	c.330C>T	c.(328-330)caC>caT	p.H110H	HIST1H2BN_ENST00000606613.1_Silent_p.H110H|HIST1H2AK_ENST00000330180.2_5'Flank	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	110					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H110H(1)		central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						TGGCCAAGCACGCGGTGTCGG	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		16479	0.0		0.001	False		,,,				2504	0.0					uc003njv.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(328-330)CAC>CAT		histone cluster 1, H2bn		C		3,4403		0,3,2200	52.0	55.0	54.0		330	2.8	1.0	6	dbSNP_134	54	3,8595		0,3,4296	no	coding-synonymous	HIST1H2BN	NM_003520.3		0,6,6496	TT,TC,CC		0.0349,0.0681,0.0461		110/127	27806769	6,12998	2203	4299	6502	SO:0001819	synonymous_variant	8341				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27806769C>T	Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"""Histones / Replication-dependent"""	4749	protein-coding gene	gene with protein product		602801	"""H2B histone family, member D"", ""histone 1, H2bn"""	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.330C>T	6.37:g.27806769C>T						HIST1H2AK_uc003njs.2_5'Flank|HIST1H2BN_uc003njt.1_RNA|HIST1H2BN_uc003nju.1_Silent_p.H110H	p.H110H	NM_003520	NP_003511	Q99877	H2B1N_HUMAN			1	330	+			110					B2R5L4|Q494S8|Q96FB7	Silent	SNP	ENST00000396980.3	37	c.330C>T	CCDS4633.1																																																																																				PASS	0.662	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043840.2	NM_003520		57	40	57	40	---	---	---	---
GNL1	2794	broad.mit.edu	37	6	30514615	30514615	+	Splice_Site	SNP	T	T	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:30514615T>A	ENST00000376621.3	-	11	2412		c.e11-2			NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1						cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.?(1)		cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						CTGCCCAGGCTGGAGGAAGAA	0.517																																						uc003nqh.2																			1	Unknown(1)		lung(1)	ovary(3)	3						c.e11-1		guanine nucleotide binding protein-like 1							81.0	83.0	82.0					6																	30514615		1510	2708	4218	SO:0001630	splice_region_variant	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30514615T>A		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.1442-2A>T	6.37:g.30514615T>A						GNL1_uc011dmi.1_Splice_Site_p.A278_splice|GNL1_uc011dmj.1_Splice_Site_p.A479_splice|GNL1_uc011dmk.1_Splice_Site_p.A136_splice	p.A481_splice	NM_005275	NP_005266	P36915	GNL1_HUMAN			11	2470	-								B0S838|Q96CT5	Splice_Site	SNP	ENST00000376621.3	37	c.1442_splice	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	T	17.65	3.441882	0.63067	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0391	0.64663	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GNL1	30622594	1.000000	0.71417	0.977000	0.42913	0.734000	0.41952	6.892000	0.75644	2.032000	0.59987	0.459000	0.35465	.		PASS	0.517	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2		Intron	43	38	43	38	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31948524	31948524	+	Missense_Mutation	SNP	G	G	A	rs529123063		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:31948524G>A	ENST00000375333.2	+	7	1060	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	C4A_ENST00000498271.1_5'Flank|STK19_ENST00000375331.2_Missense_Mutation_p.R332Q|C4A_ENST00000428956.2_5'Flank|C4A_ENST00000537134.1_5'Flank	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	336					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R336Q(1)		skin(5)|upper_aerodigestive_tract(2)	7						GTCGTGGTGCGGCTTGGCCTC	0.617													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13437	0.0		0.0	False		,,,				2504	0.0					uc003nyv.2																			1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(1006-1008)CGG>CAG		serine/threonine kinase 19 isoform 2							27.0	32.0	30.0					6																	31948524		1506	2707	4213	SO:0001583	missense	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31948524G>A	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.1007G>A	6.37:g.31948524G>A	ENSP00000364482:p.Arg336Gln					STK19_uc003nyt.2_Missense_Mutation_p.R289Q|STK19_uc011dox.1_Missense_Mutation_p.R293Q|STK19_uc003nyw.2_Missense_Mutation_p.R332Q|STK19_uc010jtn.1_RNA|C4A_uc011doy.1_5'Flank|C4A_uc011doz.1_5'Flank|C4A_uc011dpa.1_5'Flank	p.R336Q	NM_032454	NP_115830	P49842	STK19_HUMAN			7	1135	+			336					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Missense_Mutation	SNP	ENST00000375333.2	37	c.1007G>A	CCDS4733.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772804	0.49680	.	.	ENSG00000204344	ENST00000375331;ENST00000375333	T;T	0.29397	1.57;1.57	4.65	4.65	0.58169	.	0.065967	0.64402	D	0.000017	T	0.31765	0.0807	L	0.47716	1.5	0.37856	D	0.929555	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.70227	0.954;0.947;0.968;0.968	T	0.03249	-1.1056	10	0.25106	T	0.35	-15.4349	10.6828	0.45823	0.0926:0.0:0.9074:0.0	.	289;332;336;289	C9IZ87;P49842-2;P49842;B7ZLI8	.;.;STK19_HUMAN;.	Q	332;336	ENSP00000364480:R332Q;ENSP00000364482:R336Q	ENSP00000364480:R332Q	R	+	2	0	STK19	32056503	0.985000	0.35326	0.533000	0.28001	0.010000	0.07245	3.241000	0.51376	2.423000	0.82170	0.555000	0.69702	CGG		PASS	0.617	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			4	64	4	64	---	---	---	---
CRISP2	7180	broad.mit.edu	37	6	49668381	49668381	+	Splice_Site	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:49668381C>A	ENST00000339139.4	-	5	419	c.183G>T	c.(181-183)atG>atT	p.M61I		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	61	SCP.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)		p.M61I(2)		kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGCCTCTTACCATCTTTAGCA	0.458																																						uc003ozq.2																			2	Substitution - Missense(2)		lung(1)|skin(1)	skin(1)	1						c.(181-183)ATG>ATT		cysteine-rich secretory protein 2 precursor							107.0	90.0	95.0					6																	49668381		2203	4299	6502	SO:0001630	splice_region_variant	7180					extracellular space		g.chr6:49668381C>A	X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.183+1G>T	6.37:g.49668381C>A						CRISP2_uc003ozl.2_Missense_Mutation_p.M61I|CRISP2_uc003ozn.2_Missense_Mutation_p.M61I|CRISP2_uc003ozr.2_Missense_Mutation_p.M61I|CRISP2_uc003ozo.2_Missense_Mutation_p.M61I|CRISP2_uc003ozm.2_Missense_Mutation_p.M61I|CRISP2_uc003ozp.2_Missense_Mutation_p.M61I	p.M61I	NM_001142408	NP_001135880	P16562	CRIS2_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		5	439	-	Lung NSC(77;0.0161)		61					A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	ENST00000339139.4	37	c.183G>T	CCDS4928.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694964	0.88830	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.11712	2.75	5.23	5.23	0.72850	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	M	0.85859	2.78	0.58432	D	0.999997	D;D	0.76494	0.986;0.999	D;D	0.85130	0.91;0.997	T	0.03423	-1.1038	9	.	.	.	.	16.3294	0.83004	0.0:1.0:0.0:0.0	.	61;61	Q7Z7B2;P16562	.;CRIS2_HUMAN	I	61	ENSP00000339155:M61I	.	M	-	3	0	CRISP2	49776340	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.416000	0.66417	2.717000	0.92951	0.585000	0.79938	ATG		PASS	0.458	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040870.2	NM_003296	Missense_Mutation	8	58	8	58	---	---	---	---
BMP5	653	broad.mit.edu	37	6	55625317	55625317	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:55625317C>T	ENST00000370830.3	-	5	1740	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	BMP5_ENST00000446683.2_Missense_Mutation_p.E348K	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	348					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.E348K(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGTTTTTGCTCACTTGTGTTA	0.363																																						uc003pcq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1042-1044)GAG>AAG		bone morphogenetic protein 5 preproprotein							108.0	97.0	101.0					6																	55625317		2203	4300	6503	SO:0001583	missense	653				cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	g.chr6:55625317C>T		CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1042G>A	6.37:g.55625317C>T	ENSP00000359866:p.Glu348Lys					BMP5_uc011dxf.1_Missense_Mutation_p.E348K	p.E348K	NM_021073	NP_066551	P22003	BMP5_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		5	1754	-	Lung NSC(77;0.0462)		348					B4E0Y4|Q9H547|Q9NTM5	Missense_Mutation	SNP	ENST00000370830.3	37	c.1042G>A	CCDS4958.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118865	0.77323	.	.	ENSG00000112175	ENST00000370830;ENST00000446683	D;D	0.88509	-2.39;-2.39	5.73	5.73	0.89815	Transforming growth factor-beta, C-terminal (1);	0.106820	0.64402	D	0.000002	T	0.80914	0.4715	N	0.24115	0.695	0.80722	D	1	P;P	0.47409	0.895;0.791	P;B	0.45071	0.468;0.368	T	0.80367	-0.1412	10	0.28530	T	0.3	.	19.9059	0.97007	0.0:1.0:0.0:0.0	.	348;348	B4E0Y4;P22003	.;BMP5_HUMAN	K	348	ENSP00000359866:E348K;ENSP00000391818:E348K	ENSP00000359866:E348K	E	-	1	0	BMP5	55733276	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.693000	0.91896	0.655000	0.94253	GAG		PASS	0.363	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041000.1			31	43	31	43	---	---	---	---
MMS22L	253714	broad.mit.edu	37	6	97679345	97679345	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:97679345T>C	ENST00000275053.4	-	13	1751	c.1486A>G	c.(1486-1488)Atg>Gtg	p.M496V	MMS22L_ENST00000369251.2_Missense_Mutation_p.M456V	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	496					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)		p.M496V(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTGCTCTTCATTGCTTTTTTA	0.368																																						uc003ppb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1486-1488)ATG>GTG		hypothetical protein LOC253714							104.0	91.0	96.0					6																	97679345		2203	4300	6503	SO:0001583	missense	253714				double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding	g.chr6:97679345T>C		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.1486A>G	6.37:g.97679345T>C	ENSP00000275053:p.Met496Val					C6orf167_uc011eaf.1_Missense_Mutation_p.M456V|C6orf167_uc010kcn.1_Missense_Mutation_p.M270V	p.M496V	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0457)	13	1752	-		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198)	496					D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	37	c.1486A>G	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	T	3.486	-0.104814	0.06967	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.29142	1.58;1.58	4.59	4.59	0.56863	.	0.382884	0.25765	N	0.028456	T	0.09113	0.0225	L	0.54323	1.7	0.23293	N	0.997961	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.27673	-1.0067	10	0.10111	T	0.7	-6.9905	6.2363	0.20764	0.0:0.1546:0.0:0.8454	.	456;496	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	V	496;456	ENSP00000275053:M496V;ENSP00000358254:M456V	ENSP00000275053:M496V	M	-	1	0	MMS22L	97786066	0.999000	0.42202	1.000000	0.80357	0.616000	0.37450	0.888000	0.28268	1.821000	0.53095	0.533000	0.62120	ATG		PASS	0.368	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468		26	34	26	34	---	---	---	---
GRIK2	2898	broad.mit.edu	37	6	102483400	102483400	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:102483400G>T	ENST00000421544.1	+	14	2760	c.2270G>T	c.(2269-2271)gGc>gTc	p.G757V	GRIK2_ENST00000369134.4_Missense_Mutation_p.G708V|GRIK2_ENST00000369137.3_Missense_Mutation_p.G681V|GRIK2_ENST00000369138.1_Missense_Mutation_p.G757V|GRIK2_ENST00000318991.6_Missense_Mutation_p.G757V|GRIK2_ENST00000413795.1_Missense_Mutation_p.G757V	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	757					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.G757V(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	CAGATTGGCGGCCTTATAGAC	0.458																																						uc003pqp.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(2269-2271)GGC>GTC		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						144.0	146.0	146.0					6																	102483400		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102483400G>T		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2270G>T	6.37:g.102483400G>T	ENSP00000397026:p.Gly757Val					GRIK2_uc003pqo.3_Missense_Mutation_p.G757V|GRIK2_uc010kcw.2_Missense_Mutation_p.G757V	p.G757V	NM_021956	NP_068775	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	14	2519	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	757			Extracellular (Potential).		A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2270G>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009357	0.93346	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.11495	2.77;2.77;2.77;2.77;2.77;2.77	5.46	5.46	0.80206	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.30792	0.0776	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.09574	-1.0668	10	0.87932	D	0	.	19.301	0.94144	0.0:0.0:1.0:0.0	.	757;757;757	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	V	757;757;757;681;757;708;532	ENSP00000397026:G757V;ENSP00000405596:G757V;ENSP00000358134:G757V;ENSP00000358133:G681V;ENSP00000313276:G757V;ENSP00000358130:G708V	ENSP00000313276:G757V	G	+	2	0	GRIK2	102590093	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.555000	0.86185	0.655000	0.94253	GGC		PASS	0.458	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			76	159	76	159	---	---	---	---
CDC40	51362	broad.mit.edu	37	6	110551303	110551303	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:110551303G>T	ENST00000368932.1	+	16	1810	c.1709G>T	c.(1708-1710)gGt>gTt	p.G570V	CDC40_ENST00000368930.1_Intron|CDC40_ENST00000307731.1_Missense_Mutation_p.G570V|CDC40_ENST00000445340.2_Intron			O60508	PRP17_HUMAN	cell division cycle 40	570					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.G570V(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		ATAACATGTGGTTGGGATGGT	0.338																																						uc003pua.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1708-1710)GGT>GTT		cell division cycle 40 homolog							112.0	100.0	104.0					6																	110551303		2203	4300	6503	SO:0001583	missense	51362				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		g.chr6:110551303G>T	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.1709G>T	6.37:g.110551303G>T	ENSP00000357928:p.Gly570Val						p.G570V	NM_015891	NP_056975	O60508	PRP17_HUMAN		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)	15	1733	+		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	570			WD 7.		B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	c.1709G>T	CCDS5081.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863974	0.91511	.	.	ENSG00000168438	ENST00000368932;ENST00000307731	T;T	0.64260	-0.09;-0.09	5.91	5.91	0.95273	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	0.87026	0.6075	H	0.98218	4.175	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.90938	0.4795	10	0.87932	D	0	-17.4482	20.2985	0.98592	0.0:0.0:1.0:0.0	.	570	O60508	PRP17_HUMAN	V	570	ENSP00000357928:G570V;ENSP00000304370:G570V	ENSP00000304370:G570V	G	+	2	0	CDC40	110657996	1.000000	0.71417	0.969000	0.41365	0.999000	0.98932	9.476000	0.97823	2.793000	0.96121	0.655000	0.94253	GGT		PASS	0.338	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		36	51	36	51	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112430732	112430732	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:112430732G>A	ENST00000230538.7	-	39	5777	c.5380C>T	c.(5380-5382)Cgc>Tgc	p.R1794C	LAMA4_ENST00000424408.2_Missense_Mutation_p.R1787C|LAMA4_ENST00000522006.1_Missense_Mutation_p.R1787C|LAMA4_ENST00000389463.4_Missense_Mutation_p.R1787C	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1794	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.R1787C(2)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		ACAAAGTGGCGTATGCAGCCT	0.502																																						uc003pvu.2																			2	Substitution - Missense(2)	p.R1787C(1)	large_intestine(1)|lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(5380-5382)CGC>TGC		laminin, alpha 4 isoform 1 precursor							96.0	86.0	89.0					6																	112430732		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112430732G>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.5380C>T	6.37:g.112430732G>A	ENSP00000230538:p.Arg1794Cys					LAMA4_uc003pvv.2_Missense_Mutation_p.R1787C|LAMA4_uc003pvt.2_Missense_Mutation_p.R1787C	p.R1794C	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	39	5689	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1794			Laminin G-like 5.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.5380C>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033622	0.75504	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	6.17	5.3	0.74995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.89167	0.6638	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91407	0.5148	10	0.87932	D	0	.	17.0474	0.86508	0.0:0.0:0.8718:0.1282	.	1794;1787	Q16363;Q16363-2	LAMA4_HUMAN;.	C	1794;1787;1787;1787	ENSP00000230538:R1794C;ENSP00000429488:R1787C;ENSP00000374114:R1787C;ENSP00000416470:R1787C	ENSP00000230538:R1794C	R	-	1	0	LAMA4	112537425	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.987000	0.56944	1.602000	0.50124	0.655000	0.94253	CGC		PASS	0.502	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		36	68	36	68	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117709004	117709004	+	Silent	SNP	T	T	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:117709004T>A	ENST00000368508.3	-	13	2151	c.1953A>T	c.(1951-1953)gcA>gcT	p.A651A	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.A646A	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	651	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A651A(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTGGAGAACTTGCTCTCACAG	0.483			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - coding silent(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(1951-1953)GCA>GCT		proto-oncogene c-ros-1 protein precursor							123.0	124.0	123.0					6																	117709004		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117709004T>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1953A>T	6.37:g.117709004T>A						ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.A651A	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	13	2152	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	651			Fibronectin type-III 3.|Extracellular (Potential).		Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.1953A>T	CCDS5116.1																																																																																				PASS	0.483	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			90	140	90	140	---	---	---	---
RSPO3	84870	broad.mit.edu	37	6	127476525	127476525	+	Silent	SNP	A	A	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:127476525A>T	ENST00000356698.4	+	4	1165	c.576A>T	c.(574-576)ccA>ccT	p.P192P	RSPO3_ENST00000368317.3_Silent_p.P192P	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	192	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)	extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.P192P(1)	PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		TGTGTCCCCCAACAAATGAGA	0.428																																						uc003qar.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(574-576)CCA>CCT		R-spondin 3 precursor							98.0	88.0	91.0					6																	127476525		2203	4300	6503	SO:0001819	synonymous_variant	84870					extracellular region	heparin binding	g.chr6:127476525A>T	BC022367	CCDS5135.1	6q22.33	2013-02-28	2011-06-29	2005-08-08	ENSG00000146374	ENSG00000146374		"""Endogenous ligands"""	20866	protein-coding gene	gene with protein product		610574	"""thrombospondin, type I, domain containing 2"", ""R-spondin 3 homolog (Xenopus laevis)"""	THSD2		10842357, 15469841	Standard	NM_032784		Approved	FLJ14440	uc003qar.3	Q9BXY4	OTTHUMG00000015521	ENST00000356698.4:c.576A>T	6.37:g.127476525A>T						RSPO3_uc003qas.1_Silent_p.P192P	p.P192P	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN		GBM - Glioblastoma multiforme(226;0.0555)	4	866	+			192			TSP type-1.		B2RC27|Q5VTV4|Q96K87	Silent	SNP	ENST00000356698.4	37	c.576A>T	CCDS5135.1																																																																																				PASS	0.428	RSPO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042111.1	NM_032784		15	47	15	47	---	---	---	---
TAAR6	319100	broad.mit.edu	37	6	132891742	132891742	+	Silent	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:132891742G>A	ENST00000275198.1	+	1	282	c.282G>A	c.(280-282)gtG>gtA	p.V94V		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	94					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.V94V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TCAGGACGGTGGAGAGCTGCT	0.502																																						uc011eck.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(280-282)GTG>GTA		trace amine associated receptor 6							184.0	167.0	173.0					6																	132891742		2203	4300	6503	SO:0001819	synonymous_variant	319100					plasma membrane	G-protein coupled receptor activity	g.chr6:132891742G>A	AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.282G>A	6.37:g.132891742G>A							p.V94V	NM_175067	NP_778237	Q96RI8	TAAR6_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)	1	282	+	Breast(56;0.112)		94			Extracellular (Potential).		Q5VUQ4	Silent	SNP	ENST00000275198.1	37	c.282G>A	CCDS5155.1																																																																																				PASS	0.502	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067		37	108	37	108	---	---	---	---
AHI1	54806	broad.mit.edu	37	6	135611618	135611618	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:135611618T>C	ENST00000367800.4	-	26	3747	c.3531A>G	c.(3529-3531)atA>atG	p.I1177M	AHI1_ENST00000457866.2_Missense_Mutation_p.I1177M|AHI1_ENST00000417892.2_3'UTR	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	1177					cellular protein localization (GO:0034613)|central nervous system development (GO:0007417)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|cloaca development (GO:0035844)|heart looping (GO:0001947)|hindbrain development (GO:0030902)|Kupffer's vesicle development (GO:0070121)|left/right axis specification (GO:0070986)|morphogenesis of a polarized epithelium (GO:0001738)|negative regulation of apoptotic process (GO:0043066)|otic vesicle development (GO:0071599)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of polarized epithelial cell differentiation (GO:0030862)|positive regulation of receptor internalization (GO:0002092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pronephric duct morphogenesis (GO:0039023)|pronephric nephron tubule morphogenesis (GO:0039008)|protein localization to organelle (GO:0033365)|regulation of behavior (GO:0050795)|retina layer formation (GO:0010842)|specification of axis polarity (GO:0065001)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vesicle targeting (GO:0006903)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|nonmotile primary cilium (GO:0031513)|photoreceptor outer segment (GO:0001750)|primary cilium (GO:0072372)|TCTN-B9D complex (GO:0036038)		p.I1177M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		GTGTATCCATTATGTGTCCTT	0.423																																						uc003qgi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(3529-3531)ATA>ATG		Abelson helper integration site 1 isoform a							388.0	366.0	373.0					6																	135611618		1903	4130	6033	SO:0001583	missense	54806					adherens junction|cilium|microtubule basal body		g.chr6:135611618T>C	AJ459824	CCDS47483.1, CCDS47484.1	6q23.2	2013-01-10	2005-11-29		ENSG00000135541	ENSG00000135541		"""WD repeat domain containing"""	21575	protein-coding gene	gene with protein product	"""Jouberin"""	608894	"""Abelson helper integration site"""			15060101, 16240161	Standard	NM_017651		Approved	FLJ20069, ORF1, JBTS3	uc003qgj.3	Q8N157	OTTHUMG00000015631	ENST00000367800.4:c.3531A>G	6.37:g.135611618T>C	ENSP00000356774:p.Ile1177Met					AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Intron|AHI1_uc003qgh.2_Missense_Mutation_p.I1177M|AHI1_uc003qgj.2_Missense_Mutation_p.I1177M	p.I1177M	NM_001134831	NP_001128303	Q8N157	AHI1_HUMAN		GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)	28	3915	-	Breast(56;0.239)|Colorectal(23;0.24)		1177					E1P584|Q4FD35|Q504T3|Q5TCP9|Q6P098|Q6PIT6|Q8NDX0|Q9H0H2	Missense_Mutation	SNP	ENST00000367800.4	37	c.3531A>G	CCDS47483.1	.	.	.	.	.	.	.	.	.	.	T	8.415	0.844977	0.16963	.	.	ENSG00000135541	ENST00000367800;ENST00000457866;ENST00000265602	T;T;T	0.57107	0.42;0.42;0.42	4.1	1.46	0.22682	.	1.688720	0.03250	N	0.181686	T	0.13286	0.0322	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15665	-1.0429	10	0.54805	T	0.06	-0.0357	4.1578	0.10270	0.0:0.1259:0.2246:0.6495	.	1177	Q8N157	AHI1_HUMAN	M	1177	ENSP00000356774:I1177M;ENSP00000388650:I1177M;ENSP00000265602:I1177M	ENSP00000265602:I1177M	I	-	3	3	AHI1	135653311	0.008000	0.16893	0.005000	0.12908	0.181000	0.23173	0.471000	0.22100	0.310000	0.22990	0.533000	0.62120	ATA		PASS	0.423	AHI1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391948.1	NM_017651		161	234	161	234	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152629688	152629688	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:152629688A>G	ENST00000367255.5	-	91	17883	c.17282T>C	c.(17281-17283)aTt>aCt	p.I5761T	SYNE1_ENST00000265368.4_Missense_Mutation_p.I5761T|SYNE1_ENST00000448038.1_Missense_Mutation_p.I5690T|SYNE1_ENST00000423061.1_Missense_Mutation_p.I5690T|SYNE1_ENST00000356820.4_Missense_Mutation_p.I285T|SYNE1_ENST00000341594.5_Missense_Mutation_p.I5373T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5761					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.I5761T(2)|p.I5690T(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTATCCTCAATCTCTCTGTG	0.428										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(17281-17283)ATT>ACT		spectrin repeat containing, nuclear envelope 1							203.0	183.0	189.0					6																	152629688		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152629688A>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17282T>C	6.37:g.152629688A>G	ENSP00000356224:p.Ile5761Thr	HNSCC(10;0.0054)				SYNE1_uc010kiv.2_Missense_Mutation_p.I285T|SYNE1_uc003qos.3_Missense_Mutation_p.I285T|SYNE1_uc003qot.3_Missense_Mutation_p.I5690T|SYNE1_uc003qou.3_Missense_Mutation_p.I5761T	p.I5761T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	91	17884	-		Ovarian(120;0.0955)	5761			Cytoplasmic (Potential).|Spectrin 19.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.17282T>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	24.7	4.564898	0.86439	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000005	T	0.48926	0.1527	L	0.29908	0.895	0.58432	D	0.999996	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.68353	0.956;0.956;0.957	T	0.56208	-0.8017	10	0.87932	D	0	.	16.3283	0.82996	1.0:0.0:0.0:0.0	.	5761;5761;5690	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	T	5761;5690;5761;5690;5373;285	ENSP00000356224:I5761T;ENSP00000396024:I5690T;ENSP00000265368:I5761T;ENSP00000390975:I5690T;ENSP00000341887:I5373T;ENSP00000349276:I285T	ENSP00000265368:I5761T	I	-	2	0	SYNE1	152671381	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.339000	0.96797	2.257000	0.74773	0.533000	0.62120	ATT		PASS	0.428	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		5	131	5	131	---	---	---	---
CNKSR3	154043	broad.mit.edu	37	6	154727502	154727502	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:154727502G>T	ENST00000607772.1	-	13	2198	c.1654C>A	c.(1654-1656)Ctg>Atg	p.L552M	CNKSR3_ENST00000433165.2_Missense_Mutation_p.L377M|CNKSR3_ENST00000479339.1_Missense_Mutation_p.L472M	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	552					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.L552M(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TGAGTCAACAGTTTGAGGCGC	0.562																																						uc003qpy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(1654-1656)CTG>ATG		CNKSR family member 3							55.0	40.0	45.0					6																	154727502		2203	4300	6503	SO:0001583	missense	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154727502G>T	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1654C>A	6.37:g.154727502G>T	ENSP00000475915:p.Leu552Met						p.L552M	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	13	2159	-		Ovarian(120;0.196)	552					Q5SGD5|Q96N65	Missense_Mutation	SNP	ENST00000607772.1	37	c.1654C>A	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762424	0.69763	.	.	ENSG00000153721	ENST00000367213;ENST00000433165;ENST00000479339	T;T;T	0.59906	0.91;0.23;0.27	4.93	2.1	0.27182	.	0.077685	0.52532	D	0.000069	T	0.30008	0.0751	L	0.34521	1.04	0.31264	N	0.692583	P	0.45768	0.866	B	0.42653	0.394	T	0.12682	-1.0538	10	0.87932	D	0	.	10.3834	0.44125	0.3084:0.0:0.6916:0.0	.	552	Q6P9H4	CNKR3_HUMAN	M	552;377;472	ENSP00000356182:L552M;ENSP00000414185:L377M;ENSP00000418975:L472M	ENSP00000356182:L552M	L	-	1	2	CNKSR3	154769194	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.466000	0.53071	0.591000	0.29711	0.655000	0.94253	CTG		PASS	0.562	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2	NM_173515		3	32	3	32	---	---	---	---
SERAC1	84947	broad.mit.edu	37	6	158538849	158538849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:158538849C>T	ENST00000367104.3	-	13	1444	c.1313G>A	c.(1312-1314)tGg>tAg	p.W438*	SERAC1_ENST00000367102.2_Nonsense_Mutation_p.W438*|SERAC1_ENST00000367101.1_Nonsense_Mutation_p.W438*	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	438					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)	p.W438*(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TTTTGCTAACCATGTCTAAGT	0.413																																						uc003qrc.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1312-1314)TGG>TAG		serine active site containing 1							88.0	85.0	86.0					6																	158538849		2203	4300	6503	SO:0001587	stop_gained	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158538849C>T	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.1313G>A	6.37:g.158538849C>T	ENSP00000356071:p.Trp438*					SERAC1_uc003qrb.2_Nonsense_Mutation_p.W166*	p.W438*	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	13	1455	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	438					Q49AT1|Q5VTX3|Q6PKF3	Nonsense_Mutation	SNP	ENST00000367104.3	37	c.1313G>A	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	.	40	7.915418	0.98560	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000435180;ENST00000367101	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4315	19.8411	0.96685	0.0:1.0:0.0:0.0	.	.	.	.	X	438;438;13;438	.	ENSP00000356068:W438X	W	-	2	0	SERAC1	158458837	1.000000	0.71417	0.928000	0.36995	0.965000	0.64279	7.293000	0.78740	2.168000	0.68352	0.533000	0.62120	TGG		PASS	0.413	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		6	79	6	79	---	---	---	---
T	6862	broad.mit.edu	37	6	166572067	166572068	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr6:166572067_166572068GG>TA	ENST00000296946.2	-	9	1511_1512	c.1043_1044CC>TA	c.(1042-1044)cCC>cTA	p.P348L	T_ENST00000366871.3_Missense_Mutation_p.P290L	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	348					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P348L(2)|p.P348P(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		ACCACAGGCTGGGGTACTGACT	0.653									Chordoma, Familial Clustering of																													uc003quu.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|pancreas(1)	2						c.(1042-1044)CCC>CCA|c.(1042-1044)CCC>CTC		transcription factor T																																				SO:0001583	missense	6862	Chordoma_Familial_Clustering_of	Familial Cancer Database		anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	g.chr6:166572067G>T|g.chr6:166572068G>A	AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.1043_1044delinsTA	6.37:g.166572067_166572068delinsTA	ENSP00000296946:p.Pro348Leu					T_uc003qut.1_Silent_p.P349P|T_uc003quv.1_Silent_p.P290P|T_uc003qut.1_Missense_Mutation_p.P349L|T_uc003quv.1_Missense_Mutation_p.P290L	p.P348P|p.P348L	NM_003181	NP_003172	O15178	BRAC_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)	9	1537|1536	-		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)	348					E7ERD6|Q4KMP4	Silent|Missense_Mutation	SNP	ENST00000296946.2	37	c.1044C>A|c.1043C>T	CCDS5290.1																																																																																				PASS	0.653	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043037.2	NM_003181		5|4	8|9	4	8	---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1526289	1526289	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr7:1526289T>A	ENST00000404767.3	-	22	3033	c.2948A>T	c.(2947-2949)cAg>cTg	p.Q983L	INTS1_ENST00000389470.4_Missense_Mutation_p.Q1126L	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	983					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.Q1126L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGAGGCCACCTGGGAGGAGCC	0.647																																						uc003skn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2947-2949)CAG>CTG		integrator complex subunit 1							17.0	23.0	21.0					7																	1526289		2062	4191	6253	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1526289T>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.2948A>T	7.37:g.1526289T>A	ENSP00000385722:p.Gln983Leu					INTS1_uc003skp.1_Missense_Mutation_p.Q330L	p.Q983L	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	22	3049	-		Ovarian(82;0.0253)	983					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.2948A>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	T	18.04	3.535036	0.64972	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.49720	0.77;0.78	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	L	0.56769	1.78	0.80722	D	1	B;B	0.25955	0.138;0.138	B;B	0.33690	0.168;0.168	T	0.52147	-0.8614	10	0.54805	T	0.06	.	13.9267	0.63966	0.0:0.0:0.0:1.0	.	1132;983	A4D213;Q8N201	.;INT1_HUMAN	L	983;1126	ENSP00000385722:Q983L;ENSP00000374121:Q1126L	ENSP00000374121:Q1126L	Q	-	2	0	INTS1	1492815	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.627000	0.83176	1.706000	0.51276	0.533000	0.62120	CAG		PASS	0.647	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			3	6	3	6	---	---	---	---
TMEM184A	202915	broad.mit.edu	37	7	1587401	1587401	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr7:1587401G>C	ENST00000297477.5	-	8	1305	c.989C>G	c.(988-990)gCa>gGa	p.A330G	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	330					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)		p.A330G(1)		endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTTCTTCTCTGCGTACACCTG	0.642																																						uc003skv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(988-990)GCA>GGA		transmembrane protein 184A							45.0	54.0	51.0					7																	1587401		2132	4269	6401	SO:0001583	missense	202915					integral to membrane		g.chr7:1587401G>C		CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.989C>G	7.37:g.1587401G>C	ENSP00000297477:p.Ala330Gly					TMEM184A_uc003skt.3_Missense_Mutation_p.A309G|TMEM184A_uc003skw.3_Missense_Mutation_p.A135G	p.A330G	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)	8	1306	-		Ovarian(82;0.0253)	330					Q8TBQ6	Missense_Mutation	SNP	ENST00000297477.5	37	c.989C>G	CCDS43537.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.372634	0.24857	.	.	ENSG00000164855	ENST00000297477	T	0.33438	1.41	5.82	4.88	0.63580	.	0.445875	0.20573	U	0.089685	T	0.31827	0.0809	L	0.48642	1.525	0.09310	N	1	B	0.27068	0.167	B	0.32677	0.15	T	0.28964	-1.0027	10	0.66056	D	0.02	-10.5224	13.7577	0.62946	0.0:0.3233:0.6767:0.0	.	330	Q6ZMB5	T184A_HUMAN	G	330	ENSP00000297477:A330G	ENSP00000297477:A330G	A	-	2	0	TMEM184A	1553927	0.221000	0.23642	0.064000	0.19789	0.036000	0.12997	2.561000	0.45905	2.750000	0.94351	0.561000	0.74099	GCA		PASS	0.642	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239229.4	NM_152689		3	23	3	23	---	---	---	---
GGCT	79017	broad.mit.edu	37	7	30538534	30538534	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr7:30538534C>G	ENST00000275428.4	-	3	442	c.308G>C	c.(307-309)gGa>gCa	p.G103A	GGCT_ENST00000005374.6_Intron|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000598361.1_Missense_Mutation_p.G18A|GGCT_ENST00000409436.1_Missense_Mutation_p.G103A	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	103					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|release of cytochrome c from mitochondria (GO:0001836)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)|protein homodimerization activity (GO:0042803)	p.G103A(1)|p.G103E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						AACATACATTCCACTTTTAAC	0.378																																						uc003tba.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)		0						c.(307-309)GGA>GCA		gamma-glutamyl cyclotransferase							146.0	138.0	141.0					7																	30538534		2203	4300	6503	SO:0001583	missense	79017				release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity	g.chr7:30538534C>G	BC019243	CCDS5428.1, CCDS56474.1, CCDS56475.1, CCDS56476.1	7p15-p14	2010-04-23	2010-04-23	2008-08-04	ENSG00000006625	ENSG00000006625	2.3.2.4		21705	protein-coding gene	gene with protein product		137170	"""chromosome 7 open reading frame 24"""	C7orf24, GCTG		17932939, 18515354	Standard	NM_024051		Approved	MGC3077, CRF21, Ggc	uc003tba.3	O75223	OTTHUMG00000128593	ENST00000275428.4:c.308G>C	7.37:g.30538534C>G	ENSP00000275428:p.Gly103Ala					GGCT_uc003tbb.2_Intron|GGCT_uc003tbc.2_RNA|GGCT_uc003taz.2_Missense_Mutation_p.G42A	p.G103A	NM_024051	NP_076956	O75223	GGCT_HUMAN			3	435	-			103					B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Missense_Mutation	SNP	ENST00000275428.4	37	c.308G>C	CCDS5428.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560097	0.86335	.	.	ENSG00000006625	ENST00000275428;ENST00000497601;ENST00000409436	.	.	.	5.55	5.55	0.83447	Butirosin biosynthesis, BtrG-like (1);AIG2-like (1);	0.095412	0.64402	D	0.000001	D	0.86146	0.5863	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.991;1.0	D	0.88313	0.2957	9	0.66056	D	0.02	-16.9986	18.8487	0.92218	0.0:1.0:0.0:0.0	.	103;42	O75223;E7EU55	GGCT_HUMAN;.	A	103;42;103	.	ENSP00000275428:G103A	G	-	2	0	GGCT	30505059	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	4.442000	0.59988	2.773000	0.95371	0.650000	0.86243	GGA		PASS	0.378	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2	NM_024051		58	64	58	64	---	---	---	---
AMPH	273	broad.mit.edu	37	7	38433815	38433815	+	Splice_Site	SNP	C	C	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr7:38433815C>G	ENST00000356264.2	-	18	1614		c.e18-1		AMPH_ENST00000428293.2_Splice_Site|AMPH_ENST00000471913.1_Splice_Site|AMPH_ENST00000325590.5_Splice_Site	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin						endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)	p.?(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CAGGTATGATCTGCAGGGCAG	0.577																																						uc003tgu.2																			1	Unknown(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.e18-1		amphiphysin isoform 1							44.0	43.0	43.0					7																	38433815		2203	4300	6503	SO:0001630	splice_region_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38433815C>G		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1399-1G>C	7.37:g.38433815C>G						AMPH_uc003tgv.2_Splice_Site_p.I425_splice|AMPH_uc003tgt.2_Splice_Site_p.I352_splice|AMPH_uc003tgw.1_Splice_Site_p.I490_splice|AMPH_uc010kxl.1_Splice_Site	p.I467_splice	NM_001635	NP_001626	P49418	AMPH_HUMAN			18	1468	-								A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Splice_Site	SNP	ENST00000356264.2	37	c.1399_splice	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	C	14.21	2.468231	0.43839	.	.	ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000441628	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2789	0.73767	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AMPH	38400340	0.951000	0.32395	0.698000	0.30274	0.031000	0.12232	3.646000	0.54396	2.743000	0.94032	0.563000	0.77884	.		PASS	0.577	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635	Intron	37	40	37	40	---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45632493	45632493	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr7:45632493G>A	ENST00000297323.7	+	2	797	c.775G>A	c.(775-777)Gag>Aag	p.E259K	ADCY1_ENST00000432715.1_Missense_Mutation_p.E34K	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	259					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.E259K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTGGAGGATGAGAACGAGAA	0.592																																						uc003tne.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(775-777)GAG>AAG		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						93.0	87.0	89.0					7																	45632493		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45632493G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.775G>A	7.37:g.45632493G>A	ENSP00000297323:p.Glu259Lys					ADCY1_uc003tnd.2_Missense_Mutation_p.E34K	p.E259K	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			2	793	+			259			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.775G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684079	0.88639	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;D	0.84730	-1.89;-1.87	5.22	4.34	0.51931	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.90909	0.7143	M	0.86502	2.82	0.58432	D	0.999995	D;P	0.61697	0.99;0.942	P;P	0.57283	0.817;0.613	D	0.91367	0.5116	10	0.59425	D	0.04	.	11.5685	0.50820	0.0878:0.0:0.9121:0.0	.	259;34	Q08828;C9J1J0	ADCY1_HUMAN;.	K	34;259;259	ENSP00000392721:E34K;ENSP00000297323:E259K	ENSP00000297323:E259K	E	+	1	0	ADCY1	45599018	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	9.243000	0.95416	1.183000	0.42943	0.484000	0.47621	GAG		PASS	0.592	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		24	37	24	37	---	---	---	---
ADCY1	107	broad.mit.edu	37	7	45725678	45725678	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr7:45725678C>G	ENST00000297323.7	+	13	2213	c.2191C>G	c.(2191-2193)Ctg>Gtg	p.L731V		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	731					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.L731V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ACACCATGCCCTGCTCTGCTG	0.627																																						uc003tne.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(2191-2193)CTG>GTG		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						68.0	52.0	58.0					7																	45725678		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45725678C>G	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2191C>G	7.37:g.45725678C>G	ENSP00000297323:p.Leu731Val						p.L731V	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			13	2209	+			731			Helical; (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.2191C>G	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	C	1.202	-0.632090	0.03584	.	.	ENSG00000164742	ENST00000297323;ENST00000545300	T	0.79352	-1.26	3.8	1.75	0.24633	.	0.140012	0.47455	D	0.000228	T	0.57814	0.2079	L	0.29908	0.895	0.28962	N	0.889742	B	0.09022	0.002	B	0.08055	0.003	T	0.34775	-0.9815	10	0.13470	T	0.59	.	4.5468	0.12085	0.0:0.5863:0.0:0.4137	.	731	Q08828	ADCY1_HUMAN	V	731	ENSP00000297323:L731V	ENSP00000297323:L731V	L	+	1	2	ADCY1	45692203	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	2.791000	0.47829	0.787000	0.33731	0.462000	0.41574	CTG		PASS	0.627	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		7	39	7	39	---	---	---	---
POM121L12	285877	broad.mit.edu	37	7	53103760	53103760	+	Silent	SNP	G	G	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr7:53103760G>C	ENST00000408890.4	+	1	412	c.396G>C	c.(394-396)cgG>cgC	p.R132R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	132								p.R132R(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACCCAGGACGGACCTGGAGCC	0.721																																						uc003tpz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(394-396)CGG>CGC		POM121 membrane glycoprotein-like 12							28.0	33.0	31.0					7																	53103760		1972	4130	6102	SO:0001819	synonymous_variant	285877							g.chr7:53103760G>C		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.396G>C	7.37:g.53103760G>C							p.R132R	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	412	+			132					Q8NDI9	Silent	SNP	ENST00000408890.4	37	c.396G>C	CCDS43584.1																																																																																				PASS	0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595		6	55	6	55	---	---	---	---
ELN	2006	broad.mit.edu	37	7	73474266	73474266	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr7:73474266G>A	ENST00000252034.7	+	23	1864	c.1465G>A	c.(1465-1467)Gtc>Atc	p.V489I	ELN_ENST00000380553.4_Missense_Mutation_p.V353I|ELN_ENST00000380575.4_Missense_Mutation_p.V460I|ELN_ENST00000320492.7_Missense_Mutation_p.V408I|ELN_ENST00000380576.5_Missense_Mutation_p.V470I|ELN_ENST00000320399.6_Missense_Mutation_p.V489I|ELN_ENST00000445912.1_Missense_Mutation_p.V489I|ELN_ENST00000380562.4_Missense_Mutation_p.V495I|ELN_ENST00000357036.5_Missense_Mutation_p.V494I|ELN_ENST00000414324.1_Missense_Mutation_p.V465I|ELN_ENST00000380584.4_Missense_Mutation_p.V456I|ELN_ENST00000429192.1_Missense_Mutation_p.V475I|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000358929.4_Missense_Mutation_p.V524I|ELN_ENST00000458204.1_Missense_Mutation_p.V479I	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)	p.V489I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GGCTCCTGGTGTCGGTGTGGC	0.602			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															uc003tzw.2				Dom	yes		7	7q11.23	2006	T	elastin	yes	Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome	L	PAX5		B-ALL		1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(1483-1485)GTC>ATC		elastin isoform a precursor	Rofecoxib(DB00533)						219.0	206.0	211.0					7																	73474266		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73474266G>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.1465G>A	7.37:g.73474266G>A	ENSP00000252034:p.Val489Ile					RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Missense_Mutation_p.V489I|ELN_uc003tzz.2_Missense_Mutation_p.V408I|ELN_uc003tzo.2_Missense_Mutation_p.V456I|ELN_uc003tzp.2_Missense_Mutation_p.V400I|ELN_uc003tzq.2_Missense_Mutation_p.V353I|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Missense_Mutation_p.V470I|ELN_uc003tzt.2_Missense_Mutation_p.V494I|ELN_uc003tzu.2_Missense_Mutation_p.V475I|ELN_uc003tzv.2_Missense_Mutation_p.V460I|ELN_uc003tzx.2_Missense_Mutation_p.V479I|ELN_uc011kff.1_Missense_Mutation_p.V489I|ELN_uc003tzy.2_Missense_Mutation_p.V465I	p.V495I	NM_000501	NP_001075224	P15502	ELN_HUMAN			23	1574	+		Lung NSC(55;0.159)	518			Ala-rich.		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.1483G>A	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509202	0.27036	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000320492;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000429192;ENST00000380553;ENST00000380576;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.31247	1.55;1.55;1.51;1.5;1.5;1.54;1.52;1.51;1.55;1.56;1.55;1.51;1.54;1.54	2.5	0.188	0.15114	.	.	.	.	.	T	0.12987	0.0315	.	.	.	0.09310	N	0.999999	B;B;B;B;B;B;B;B;B;B;B;B;B	0.09022	0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.002;0.001;0.001;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001	T	0.35674	-0.9779	8	0.09843	T	0.71	.	5.4753	0.16692	0.1419:0.4981:0.36:0.0	.	489;408;465;479;495;460;475;494;470;353;400;456;489	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;P15502-11;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.;.	I	489;489;524;408;465;495;460;456;479;494;475;353;470;489	ENSP00000389857:V489I;ENSP00000252034:V489I;ENSP00000351807:V524I;ENSP00000315607:V408I;ENSP00000392575:V465I;ENSP00000369936:V495I;ENSP00000369949:V460I;ENSP00000369958:V456I;ENSP00000403162:V479I;ENSP00000349540:V494I;ENSP00000391129:V475I;ENSP00000369926:V353I;ENSP00000369950:V470I;ENSP00000313565:V489I	ENSP00000252034:V489I	V	+	1	0	ELN	73112202	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	0.608000	0.24223	-0.056000	0.13221	0.505000	0.49811	GTC		PASS	0.602	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		25	245	25	245	---	---	---	---
SEMA3A	10371	broad.mit.edu	37	7	83610772	83610772	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr7:83610772G>T	ENST00000265362.4	-	14	1831	c.1517C>A	c.(1516-1518)aCg>aAg	p.T506K	SEMA3A_ENST00000436949.1_Missense_Mutation_p.T506K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	506	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)	p.T506K(1)		breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AACCCCAGCCGTTGAACCAAT	0.438																																						uc003uhz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|kidney(1)	4						c.(1516-1518)ACG>AAG		semaphorin 3A precursor							55.0	56.0	56.0					7																	83610772		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83610772G>T	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1517C>A	7.37:g.83610772G>T	ENSP00000265362:p.Thr506Lys						p.T506K	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			14	1832	-			506			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.1517C>A	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	G	5.717	0.316699	0.10845	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.21361	2.01;2.01	5.71	3.78	0.43462	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.666416	0.15702	N	0.248887	T	0.11707	0.0285	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.28650	-1.0037	10	0.10111	T	0.7	.	10.8717	0.46887	0.1608:0.0:0.8392:0.0	.	506	Q14563	SEM3A_HUMAN	K	506	ENSP00000265362:T506K;ENSP00000415260:T506K	ENSP00000265362:T506K	T	-	2	0	SEMA3A	83448708	0.076000	0.21285	0.001000	0.08648	0.109000	0.19521	2.483000	0.45233	1.276000	0.44395	0.655000	0.94253	ACG		PASS	0.438	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		6	32	6	32	---	---	---	---
CROT	54677	broad.mit.edu	37	7	86991136	86991136	+	Missense_Mutation	SNP	C	C	T	rs534687382	byFrequency	TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr7:86991136C>T	ENST00000331536.3	+	6	700	c.515C>T	c.(514-516)aCt>aTt	p.T172I	CROT_ENST00000442291.1_Missense_Mutation_p.T172I|CROT_ENST00000419147.2_Missense_Mutation_p.T200I	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	172					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)	p.T172I(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CCAGGAATTACTAGAGACTCC	0.348																																						uc003uit.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(514-516)ACT>ATT		peroxisomal carnitine O-octanoyltransferase	L-Carnitine(DB00583)						85.0	95.0	91.0					7																	86991136		2203	4299	6502	SO:0001583	missense	54677				fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity	g.chr7:86991136C>T		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.515C>T	7.37:g.86991136C>T	ENSP00000331981:p.Thr172Ile					CROT_uc003uiu.2_Missense_Mutation_p.T200I	p.T172I	NM_021151	NP_066974	Q9UKG9	OCTC_HUMAN			6	760	+	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		172					A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	c.515C>T	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.979281	0.34942	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.89552	-2.53;-2.53;-2.53	5.59	4.69	0.59074	.	0.238538	0.48767	D	0.000172	D	0.88908	0.6565	M	0.74389	2.26	0.53688	D	0.999976	B;B	0.34313	0.448;0.278	B;B	0.40199	0.322;0.102	D	0.87042	0.2141	10	0.40728	T	0.16	-10.4607	10.2663	0.43457	0.1369:0.7931:0.0:0.07	.	200;172	E7EQF2;Q9UKG9	.;OCTC_HUMAN	I	200;172;172	ENSP00000413575:T200I;ENSP00000331981:T172I;ENSP00000411983:T172I	ENSP00000331981:T172I	T	+	2	0	CROT	86829072	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	2.281000	0.43452	1.449000	0.47699	0.655000	0.94253	ACT		PASS	0.348	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151		15	189	15	189	---	---	---	---
DLX5	1749	broad.mit.edu	37	7	96650095	96650095	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr7:96650095C>A	ENST00000222598.4	-	3	1296	c.823G>T	c.(823-825)Ggc>Tgc	p.G275C	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	275					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	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)|transcription regulatory region DNA binding (GO:0044212)	p.G275C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TGTAAGGAGCCCGGCGGCGGC	0.572																																						uc003uon.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(823-825)GGC>TGC		distal-less homeobox 5							46.0	54.0	51.0					7																	96650095		2203	4300	6503	SO:0001583	missense	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96650095C>A		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.823G>T	7.37:g.96650095C>A	ENSP00000222598:p.Gly275Cys						p.G275C	NM_005221	NP_005212	P56178	DLX5_HUMAN			3	1031	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		275					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.823G>T	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.682901	0.29872	.	.	ENSG00000105880	ENST00000222598	D	0.89552	-2.53	5.48	4.59	0.56863	.	0.177624	0.51477	D	0.000085	D	0.84014	0.5379	L	0.43152	1.355	0.40303	D	0.978632	P	0.38863	0.65	B	0.37047	0.24	D	0.85641	0.1276	10	0.66056	D	0.02	-13.3977	11.4229	0.49993	0.0:0.8622:0.0:0.1378	.	275	P56178	DLX5_HUMAN	C	275	ENSP00000222598:G275C	ENSP00000222598:G275C	G	-	1	0	DLX5	96488031	0.890000	0.30428	0.964000	0.40570	0.358000	0.29455	1.957000	0.40392	2.746000	0.94184	0.655000	0.94253	GGC		PASS	0.572	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			18	55	18	55	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100693916	100693916	+	Splice_Site	SNP	G	G	T	rs201239220		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr7:100693916G>T	ENST00000306151.4	+	7	12938	c.12874G>T	c.(12874-12876)Gac>Tac	p.D4292Y		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4292					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.D4292Y(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TATTTGCTCAGGTGAACTCTG	0.458																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(12874-12876)GAC>TAC		mucin 17 precursor							67.0	60.0	63.0					7																	100693916		2203	4300	6503	SO:0001630	splice_region_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100693916G>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12874+1G>T	7.37:g.100693916G>T						MUC17_uc010lho.1_Intron	p.D4292Y	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			7	12927	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4292			Extracellular (Potential).|SEA.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.12874G>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	2.877	-0.232766	0.05983	.	.	ENSG00000169876	ENST00000306151	T	0.01947	4.54	4.06	0.0285	0.14158	.	.	.	.	.	T	0.01800	0.0057	N	0.19112	0.55	0.09310	N	1	B	0.22909	0.077	B	0.11329	0.006	T	0.45041	-0.9288	9	0.62326	D	0.03	.	7.7928	0.29129	0.3414:0.0:0.6586:0.0	.	4292	Q685J3	MUC17_HUMAN	Y	4292	ENSP00000302716:D4292Y	ENSP00000302716:D4292Y	D	+	1	0	MUC17	100480636	0.040000	0.19996	0.004000	0.12327	0.005000	0.04900	-0.215000	0.09279	-0.123000	0.11745	-0.150000	0.13652	GAC		PASS	0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	Missense_Mutation	9	31	9	31	---	---	---	---
TMEM168	64418	broad.mit.edu	37	7	112413056	112413056	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr7:112413056C>G	ENST00000312814.6	-	4	1886	c.1326G>C	c.(1324-1326)ttG>ttC	p.L442F	TMEM168_ENST00000480969.1_5'Flank|TMEM168_ENST00000454074.1_Missense_Mutation_p.L442F	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	442						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)		p.L442F(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CAGTAGACCTCAAATTTAACT	0.393																																						uc003vgn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1324-1326)TTG>TTC		transmembrane protein 168							74.0	72.0	72.0					7																	112413056		2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112413056C>G		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1326G>C	7.37:g.112413056C>G	ENSP00000323068:p.Leu442Phe					TMEM168_uc010lju.2_Missense_Mutation_p.L442F|TMEM168_uc011kmr.1_Missense_Mutation_p.L58F	p.L442F	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN			4	1718	-			442					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.1326G>C	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448582	0.63178	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000447395;ENST00000449743;ENST00000441474	.	.	.	5.92	4.05	0.47172	.	0.313591	0.31721	N	0.007164	T	0.48892	0.1525	L	0.50333	1.59	0.42985	D	0.994479	D	0.55605	0.972	P	0.49085	0.6	T	0.40515	-0.9559	9	0.22109	T	0.4	-15.9155	7.4502	0.27234	0.0:0.6959:0.1542:0.15	.	442	Q9H0V1	TM168_HUMAN	F	442;442;58;58;94	.	ENSP00000323068:L442F	L	-	3	2	TMEM168	112200292	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.668000	0.37481	0.778000	0.33520	0.655000	0.94253	TTG		PASS	0.393	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		4	84	4	84	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114299649	114299649	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr7:114299649G>A	ENST00000393494.2	+	13	1847	c.1568G>A	c.(1567-1569)aGg>aAg	p.R523K	FOXP2_ENST00000393491.3_Missense_Mutation_p.R338K|FOXP2_ENST00000408937.3_Missense_Mutation_p.R548K|FOXP2_ENST00000393498.2_Missense_Mutation_p.R502K|FOXP2_ENST00000403559.4_Missense_Mutation_p.R540K|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.R523K|FOXP2_ENST00000393489.3_Missense_Mutation_p.R431K			O15409	FOXP2_HUMAN	forkhead box P2	523					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R548K(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TCATCTGACAGGCAGTTAACA	0.388																																						uc003vhb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(1567-1569)AGG>AAG		forkhead box P2 isoform I							153.0	141.0	145.0					7																	114299649		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114299649G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1568G>A	7.37:g.114299649G>A	ENSP00000377132:p.Arg523Lys					FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.R548K|FOXP2_uc003vha.2_Missense_Mutation_p.R431K|FOXP2_uc011kmu.1_Missense_Mutation_p.R540K|FOXP2_uc011kmv.1_Missense_Mutation_p.R522K|FOXP2_uc010ljz.1_Missense_Mutation_p.R338K|FOXP2_uc003vhe.1_Missense_Mutation_p.R93K	p.R523K	NM_014491	NP_055306	O15409	FOXP2_HUMAN			13	1942	+			523			Fork-head.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1568G>A	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	3.482	-0.105621	0.06924	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47;-3.47	6.06	6.06	0.98353	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.129658	0.64402	D	0.000001	D	0.85716	0.5761	N	0.02120	-0.675	0.80722	D	1	B;B;B;B;B	0.24823	0.063;0.112;0.049;0.063;0.091	B;B;B;B;B	0.31290	0.04;0.084;0.127;0.04;0.051	T	0.81906	-0.0718	10	0.02654	T	1	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	522;540;338;523;548	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	K	523;548;540;523;500;431;338	ENSP00000377132:R523K;ENSP00000386200:R548K;ENSP00000385069:R540K;ENSP00000265436:R523K;ENSP00000377129:R431K;ENSP00000377130:R338K	ENSP00000265436:R523K	R	+	2	0	FOXP2	114086885	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.244000	0.65400	2.879000	0.98667	0.650000	0.86243	AGG		PASS	0.388	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		30	102	30	102	---	---	---	---
OPN1SW	611	broad.mit.edu	37	7	128415785	128415785	+	Silent	SNP	C	C	T	rs150585695		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr7:128415785C>T	ENST00000249389.2	-	1	59	c.60G>A	c.(58-60)ccG>ccA	p.P20P		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	20					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)	p.P20P(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						GCCCATCCCACGGCCCCACTG	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		17809	0.0		0.001	False		,,,				2504	0.0					uc003vnt.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(58-60)CCG>CCA		opsin 1 (cone pigments), short-wave-sensitive		C		0,4406		0,0,2203	73.0	78.0	76.0		60	-1.4	1.0	7	dbSNP_134	76	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous	OPN1SW	NM_001708.2		0,12,6491	TT,TC,CC		0.1395,0.0,0.0923		20/349	128415785	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128415785C>T	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.60G>A	7.37:g.128415785C>T							p.P20P	NM_001708	NP_001699	P03999	OPSB_HUMAN			1	60	-			20			Extracellular (Potential).		Q13877	Silent	SNP	ENST00000249389.2	37	c.60G>A	CCDS5806.1																																																																																				PASS	0.517	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708		6	129	6	129	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141758051	141758051	+	Silent	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr7:141758051C>T	ENST00000549489.2	+	31	3837	c.3742C>T	c.(3742-3744)Ctg>Ttg	p.L1248L	MGAM_ENST00000475668.2_Silent_p.L1248L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1248	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.L1248L(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGGGTTCCAGCTGTGTCGCTA	0.478																																						uc003vwy.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(3742-3744)CTG>TTG		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						250.0	242.0	245.0					7																	141758051		1949	4146	6095	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141758051C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3742C>T	7.37:g.141758051C>T							p.L1248L	NM_004668	NP_004659	O43451	MGA_HUMAN			31	3796	+	Melanoma(164;0.0272)		1248			Glucoamylase.|Lumenal (Potential).		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.3742C>T	CCDS47727.1																																																																																				PASS	0.478	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			19	372	19	372	---	---	---	---
FAM115A	9747	broad.mit.edu	37	7	143573132	143573132	+	Silent	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr7:143573132C>T	ENST00000479870.1	-	2	778	c.570G>A	c.(568-570)acG>acA	p.T190T	FAM115A_ENST00000355951.2_Silent_p.T190T|FAM115A_ENST00000392900.3_Intron	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	190								p.T190T(1)		NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					TAAAGAAACTCGTGTCCCCTT	0.517																																						uc003wdo.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(568-570)ACG>ACA		hypothetical protein LOC9747							60.0	52.0	55.0					7																	143573132		2203	4300	6503	SO:0001819	synonymous_variant	9747							g.chr7:143573132C>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.570G>A	7.37:g.143573132C>T						FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Silent_p.T190T	p.T190T	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN			2	703	-	Melanoma(164;0.0903)		190					A8K6E0|Q75KM8|Q75KM9|Q7L665|Q9BW63	Silent	SNP	ENST00000479870.1	37	c.570G>A	CCDS5886.1																																																																																				PASS	0.517	FAM115A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349583.1	NM_014719		9	48	9	48	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151874635	151874635	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr7:151874635G>A	ENST00000262189.6	-	38	8121	c.7903C>T	c.(7903-7905)Caa>Taa	p.Q2635*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q2635*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2635					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q2635*(2)									GAATGACCTTGCTCTTGTTGA	0.498																																						uc003wla.2										N							medulloblastoma		2	Substitution - Nonsense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(7903-7905)CAA>TAA		myeloid/lymphoid or mixed-lineage leukemia 3							118.0	109.0	112.0					7																	151874635		2203	4300	6503	SO:0001587	stop_gained	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151874635G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7903C>T	7.37:g.151874635G>A	ENSP00000262189:p.Gln2635*					MLL3_uc003wkz.2_Nonsense_Mutation_p.Q1696*|MLL3_uc003wky.2_Nonsense_Mutation_p.Q144*	p.Q2635*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	38	8122	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	2635					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.7903C>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	49|49	15.194646|15.194646	0.99825|0.99825	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000360104|ENST00000262189;ENST00000355193	.|.	.|.	.|.	5.63|5.63	4.57|4.57	0.56435|0.56435	.|.	.|0.000000	.|0.44483	.|D	.|0.000441	T|.	0.43411|.	0.1246|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999997|0.999997	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.34079|.	-0.9843|.	4|.	.|0.42905	.|T	.|0.14	.|.	11.0945|11.0945	0.48137|0.48137	0.0772:0.0:0.7911:0.1317|0.0772:0.0:0.7911:0.1317	.|.	.|.	.|.	.|.	V|X	140|2635	.|.	.|ENSP00000262189:Q2635X	A|Q	-|-	2|1	0|0	MLL3|MLL3	151505568|151505568	0.888000|0.888000	0.30383|0.30383	0.913000|0.913000	0.36048|0.36048	0.970000|0.970000	0.65996|0.65996	2.505000|2.505000	0.45424|0.45424	2.649000|2.649000	0.89929|0.89929	0.650000|0.650000	0.86243|0.86243	GCA|CAA		PASS	0.498	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			62	108	62	108	---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154672636	154672636	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr7:154672636T>A	ENST00000377770.3	+	21	2258	c.2117T>A	c.(2116-2118)gTg>gAg	p.V706E	DPP6_ENST00000404039.1_Missense_Mutation_p.V642E|DPP6_ENST00000332007.3_Missense_Mutation_p.V644E|DPP6_ENST00000427557.1_Missense_Mutation_p.V599E			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	706					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.V644E(1)|p.V706E(1)|p.V642E(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGGACGCGCGTGGCCGTGTTT	0.552																																					NSCLC(125;1384 1783 2490 7422 34254)	uc003wlk.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|breast(1)	4						c.(2116-2118)GTG>GAG		dipeptidyl-peptidase 6 isoform 1							105.0	116.0	112.0					7																	154672636		2138	4236	6374	SO:0001583	missense	1804				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	g.chr7:154672636T>A	M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.2117T>A	7.37:g.154672636T>A	ENSP00000367001:p.Val706Glu					DPP6_uc003wli.2_Missense_Mutation_p.V642E|DPP6_uc003wlm.2_Missense_Mutation_p.V644E|DPP6_uc011kvq.1_Missense_Mutation_p.V599E	p.V706E	NM_130797	NP_570629	P42658	DPP6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0562)		21	2246	+	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	706			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000377770.3	37	c.2117T>A		.	.	.	.	.	.	.	.	.	.	T	15.58	2.874782	0.51695	.	.	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	4.54	4.54	0.55810	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.129240	0.52532	D	0.000066	T	0.71324	0.3326	M	0.86953	2.85	0.58432	D	0.999998	D;D;D;D	0.67145	0.992;0.996;0.994;0.996	D;D;D;D	0.73708	0.972;0.968;0.973;0.981	T	0.77872	-0.2426	10	0.87932	D	0	-15.4353	13.8935	0.63755	0.0:0.0:0.0:1.0	.	599;644;706;642	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	E	642;706;644;599	ENSP00000385578:V642E;ENSP00000367001:V706E;ENSP00000328226:V644E;ENSP00000397303:V599E	ENSP00000328226:V644E	V	+	2	0	DPP6	154303569	1.000000	0.71417	0.721000	0.30653	0.074000	0.17049	6.632000	0.74281	1.677000	0.50941	0.260000	0.18958	GTG		PASS	0.552	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797		10	79	10	79	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10464570	10464570	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:10464570T>A	ENST00000382483.3	-	4	7261	c.7038A>T	c.(7036-7038)gaA>gaT	p.E2346D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2426					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E2346D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AAGTAGAACTTTCTGGGTACA	0.547																																						uc003wtc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(7036-7038)GAA>GAT		retinitis pigmentosa 1-like 1							111.0	114.0	113.0					8																	10464570		1904	4114	6018	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10464570T>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.7038A>T	8.37:g.10464570T>A	ENSP00000371923:p.Glu2346Asp						p.E2346D	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	7267	-			2346					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.7038A>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	T	6.792	0.515080	0.12944	.	.	ENSG00000183638	ENST00000382483	T	0.12465	2.68	4.07	1.56	0.23342	.	0.528208	0.14154	U	0.337831	T	0.08758	0.0217	L	0.27053	0.805	0.09310	N	1	B	0.17038	0.02	B	0.12156	0.007	T	0.31861	-0.9928	10	0.36615	T	0.2	-7.2232	6.3791	0.21523	0.0:0.0983:0.4824:0.4193	.	2346	A6NKC6	.	D	2346	ENSP00000371923:E2346D	ENSP00000371923:E2346D	E	-	3	2	RP1L1	10501980	0.025000	0.19082	0.078000	0.20375	0.168000	0.22595	-0.555000	0.05999	0.220000	0.20860	0.454000	0.30748	GAA		PASS	0.547	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			36	127	36	127	---	---	---	---
EXTL3	2137	broad.mit.edu	37	8	28608235	28608235	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:28608235C>T	ENST00000220562.4	+	7	3514	c.2612C>T	c.(2611-2613)tCc>tTc	p.S871F	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.S487F	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	871					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)	p.S871F(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CATGATGACTCCCACTTCCAC	0.567																																						uc003xgz.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2611-2613)TCC>TTC		exostoses-like 3							173.0	133.0	147.0					8																	28608235		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28608235C>T	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.2612C>T	8.37:g.28608235C>T	ENSP00000220562:p.Ser871Phe						p.S871F	NM_001440	NP_001431	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	7	3205	+		Ovarian(32;0.069)	871			Lumenal (Potential).		D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.2612C>T	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134293	0.94517	.	.	ENSG00000012232	ENST00000523149;ENST00000220562;ENST00000517738	D;D;D	0.86432	-2.12;-2.12;-2.12	5.61	5.61	0.85477	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.92404	0.7589	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.71184	0.972	D	0.92518	0.6022	10	0.66056	D	0.02	-34.7222	19.6401	0.95754	0.0:1.0:0.0:0.0	.	871	O43909	EXTL3_HUMAN	F	487;871;117	ENSP00000428691:S487F;ENSP00000220562:S871F;ENSP00000430652:S117F	ENSP00000220562:S871F	S	+	2	0	EXTL3	28664154	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.574000	0.82434	2.643000	0.89663	0.555000	0.69702	TCC		PASS	0.567	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		39	106	39	106	---	---	---	---
DUSP4	1846	broad.mit.edu	37	8	29207707	29207707	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:29207707C>T	ENST00000240100.2	-	1	478	c.89G>A	c.(88-90)gGc>gAc	p.G30D	DUSP4_ENST00000240101.2_5'Flank|RP4-676L2.1_ENST00000567818.1_RNA	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	30					endoderm formation (GO:0001706)|innate immune response (GO:0045087)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein dephosphorylation (GO:0006470)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)	p.G30D(1)		endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GCTGCCGCTGCCGCCCGCGCC	0.682																																						uc003xhm.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(88-90)GGC>GAC		dual specificity phosphatase 4 isoform 1							11.0	15.0	14.0					8																	29207707		1837	3688	5525	SO:0001583	missense	1846				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity	g.chr8:29207707C>T	U21108	CCDS6072.1, CCDS6073.1	8p12-p11	2011-06-09			ENSG00000120875	ENSG00000120875		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3070	protein-coding gene	gene with protein product	"""VH1 homologous phosphatase 2"", ""MAP kinase phosphatase 2"""	602747				7535768, 9205128	Standard	NM_001394		Approved	HVH2, MKP-2, TYP	uc003xhm.3	Q13115	OTTHUMG00000133395	ENST00000240100.2:c.89G>A	8.37:g.29207707C>T	ENSP00000240100:p.Gly30Asp					DUSP4_uc003xhl.2_5'Flank	p.G30D	NM_001394	NP_001385	Q13115	DUS4_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)	1	479	-			30					B2RBU5|D3DSU4|G5E930|Q13524	Missense_Mutation	SNP	ENST00000240100.2	37	c.89G>A	CCDS6072.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.959072	0.34565	.	.	ENSG00000120875	ENST00000240100	T	0.02498	4.27	2.72	2.72	0.32119	Rhodanese-like (2);	0.328213	0.20762	N	0.086148	T	0.01592	0.0051	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48536	-0.9027	10	0.08179	T	0.78	.	11.5883	0.50931	0.0:1.0:0.0:0.0	.	30	Q13115	DUS4_HUMAN	D	30	ENSP00000240100:G30D	ENSP00000240100:G30D	G	-	2	0	DUSP4	29263626	0.392000	0.25229	1.000000	0.80357	0.907000	0.53573	0.699000	0.25586	1.827000	0.53221	0.491000	0.48974	GGC		PASS	0.682	DUSP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257249.1	NM_001394		5	4	5	4	---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30701206	30701206	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:30701206T>G	ENST00000256246.2	-	1	5402	c.5328A>C	c.(5326-5328)gaA>gaC	p.E1776D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1776					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.E1776D(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATGAATTCTTTTCCCTTTTTG	0.328																																						uc003xil.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7						c.(5326-5328)GAA>GAC		testis expressed 15							69.0	62.0	64.0					8																	30701206		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30701206T>G	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5328A>C	8.37:g.30701206T>G	ENSP00000256246:p.Glu1776Asp						p.E1776D	NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	1	5328	-			1776						Missense_Mutation	SNP	ENST00000256246.2	37	c.5328A>C	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	9.837	1.190011	0.21954	.	.	ENSG00000133863	ENST00000256246	T	0.14266	2.52	5.55	1.43	0.22495	.	0.539370	0.16526	N	0.210585	T	0.19366	0.0465	L	0.55481	1.735	0.09310	N	1	P	0.46142	0.873	P	0.49047	0.599	T	0.05937	-1.0855	10	0.87932	D	0	.	9.5517	0.39315	0.0:0.2568:0.0:0.7432	.	1776	Q9BXT5	TEX15_HUMAN	D	1776	ENSP00000256246:E1776D	ENSP00000256246:E1776D	E	-	3	2	TEX15	30820748	0.000000	0.05858	0.062000	0.19696	0.917000	0.54804	0.498000	0.22530	0.392000	0.25172	0.533000	0.62120	GAA		PASS	0.328	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			24	26	24	26	---	---	---	---
GPR124	25960	broad.mit.edu	37	8	37699818	37699818	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:37699818T>A	ENST00000412232.2	+	19	3975	c.3962T>A	c.(3961-3963)gTa>gAa	p.V1321E	GPR124_ENST00000315215.7_Missense_Mutation_p.V1104E	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	1321					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V1314E(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGCGCGGAGGTAGCCAGCGGC	0.677																																						uc003xkj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(1)	5						c.(3961-3963)GTA>GAA		G protein-coupled receptor 124 precursor							9.0	9.0	9.0					8																	37699818		2099	4156	6255	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37699818T>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.3962T>A	8.37:g.37699818T>A	ENSP00000406367:p.Val1321Glu					GPR124_uc010lvy.2_Missense_Mutation_p.V1104E	p.V1321E	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		19	4325	+			1321			Cytoplasmic (Potential).		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.3962T>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	T	5.122	0.208078	0.09704	.	.	ENSG00000020181	ENST00000315215;ENST00000412232	T;T	0.56941	0.43;0.56	3.8	0.795	0.18643	.	0.342959	0.22843	U	0.054943	T	0.25717	0.0626	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.11329	0.006;0.003	T	0.12167	-1.0558	10	0.56958	D	0.05	-7.9039	3.0686	0.06222	0.1893:0.4782:0.0:0.3326	.	1104;1321	Q96PE1-2;Q96PE1	.;GP124_HUMAN	E	1104;1321	ENSP00000323508:V1104E;ENSP00000406367:V1321E	ENSP00000323508:V1104E	V	+	2	0	GPR124	37818976	0.010000	0.17322	0.003000	0.11579	0.012000	0.07955	0.112000	0.15479	-0.003000	0.14444	-0.624000	0.04008	GTA		PASS	0.677	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			2	3	2	3	---	---	---	---
CHRNB3	1142	broad.mit.edu	37	8	42587227	42587227	+	Silent	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:42587227G>A	ENST00000289957.2	+	5	905	c.777G>A	c.(775-777)tcG>tcA	p.S259S		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	259					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|protein heterooligomerization (GO:0051291)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)|drug binding (GO:0008144)	p.S259S(1)		endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)	ATTTACCTTCGGATGAAGGAG	0.433																																						uc003xpi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(775-777)TCG>TCA		cholinergic receptor, nicotinic, beta							101.0	102.0	102.0					8																	42587227		2203	4300	6503	SO:0001819	synonymous_variant	1142				synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	g.chr8:42587227G>A	U62438	CCDS6134.1	8p11.21	2012-02-11	2012-02-07		ENSG00000147432	ENSG00000147432		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 3 (neuronal)"""	118508	"""cholinergic receptor, nicotinic, beta polypeptide 3"""			1505988	Standard	NM_000749		Approved		uc003xpi.1	Q05901	OTTHUMG00000165262	ENST00000289957.2:c.777G>A	8.37:g.42587227G>A							p.S259S	NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)		5	905	+	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	259					Q15827	Silent	SNP	ENST00000289957.2	37	c.777G>A	CCDS6134.1																																																																																				PASS	0.433	CHRNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383055.1			4	111	4	111	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43157238	43157238	+	RNA	SNP	C	C	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:43157238C>G	ENST00000522175.2	+	0	697				RNU6-104P_ENST00000459597.1_RNA			Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.S273C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TATGCAGTTTCTAGTCATCAT	0.299																																						uc003xpz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(817-819)TCT>TGT		POTE ankyrin domain family, member A isoform 2							87.0	89.0	88.0					8																	43157238		2005	4197	6202			340441							g.chr8:43157238C>G	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43157238C>G						POTEA_uc003xqa.1_Intron	p.S273C	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			5	861	+			273					A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.818C>G																																																																																					PASS	0.299	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		7	115	7	115	---	---	---	---
RB1CC1	9821	broad.mit.edu	37	8	53569508	53569508	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:53569508C>T	ENST00000025008.5	-	15	3404	c.2881G>A	c.(2881-2883)Gac>Aac	p.D961N	RB1CC1_ENST00000539297.1_Missense_Mutation_p.D961N|RB1CC1_ENST00000435644.2_Missense_Mutation_p.D961N|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	961					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)		p.D961N(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TTTTTTAAGTCTTCTAACACT	0.353																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.3																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11						c.(2881-2883)GAC>AAC		Rb1-inducible coiled coil protein 1 isoform 1							80.0	82.0	81.0					8																	53569508		2203	4299	6502	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53569508C>T	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.2881G>A	8.37:g.53569508C>T	ENSP00000025008:p.Asp961Asn					RB1CC1_uc003xrf.3_Missense_Mutation_p.D961N	p.D961N	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			15	3439	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	961			Potential.		Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.2881G>A	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	7.250	0.603090	0.13939	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.04049	3.72;3.72;3.72	5.39	4.51	0.55191	.	0.166972	0.53938	D	0.000055	T	0.05227	0.0139	L	0.32530	0.975	0.09310	N	1	P;P	0.47910	0.902;0.842	B;B	0.44133	0.442;0.257	T	0.38824	-0.9643	10	0.27082	T	0.32	-18.306	10.154	0.42812	0.1378:0.7914:0.0:0.0709	.	961;961	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	N	961	ENSP00000025008:D961N;ENSP00000396067:D961N;ENSP00000445960:D961N	ENSP00000025008:D961N	D	-	1	0	RB1CC1	53732061	1.000000	0.71417	0.028000	0.17463	0.147000	0.21601	3.807000	0.55591	1.386000	0.46466	0.650000	0.86243	GAC		PASS	0.353	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781		4	133	4	133	---	---	---	---
PLAG1	5324	broad.mit.edu	37	8	57078946	57078946	+	Silent	SNP	A	A	T	rs188076400		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:57078946A>T	ENST00000316981.3	-	5	1838	c.1359T>A	c.(1357-1359)gtT>gtA	p.V453V	PLAG1_ENST00000429357.2_Silent_p.V453V|PLAG1_ENST00000423799.2_Silent_p.V371V	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	453	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.				gland morphogenesis (GO:0022612)|multicellular organism growth (GO:0035264)|negative regulation of gene expression (GO:0010629)|organ growth (GO:0035265)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V453V(2)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GGAGCTGGGAAACAGAAGAAT	0.463			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma																																	uc003xsq.3				Dom	yes		8	8q12	5324	T	pleiomorphic adenoma gene 1			E	TCEA1|LIFR|CTNNB1|CHCHD7		salivary adenoma	CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3)	2	Substitution - coding silent(2)		lung(2)	salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1)	129						c.(1357-1359)GTT>GTA		pleiomorphic adenoma gene 1 isoform b							122.0	123.0	123.0					8																	57078946		2203	4300	6503	SO:0001819	synonymous_variant	5324					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:57078946A>T	U65002	CCDS6165.1, CCDS47860.1	8q12	2010-07-30				ENSG00000181690		"""Zinc fingers, C2H2-type"""	9045	protein-coding gene	gene with protein product		603026				9268638	Standard	NM_002655		Approved	ZNF912	uc010lyi.3	Q6DJT9		ENST00000316981.3:c.1359T>A	8.37:g.57078946A>T						PLAG1_uc003xsr.3_Silent_p.V453V|PLAG1_uc010lyi.2_Silent_p.V453V|PLAG1_uc010lyj.2_Silent_p.V371V	p.V453V	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Epithelial(17;0.00179)|all cancers(17;0.0125)		3	1810	-		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	453			Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.		B4DLC2|Q59GH8|Q9Y4L2	Silent	SNP	ENST00000316981.3	37	c.1359T>A	CCDS6165.1																																																																																				PASS	0.463	PLAG1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378212.1	NM_002655		16	131	16	131	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70541814	70541814	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:70541814G>T	ENST00000260128.4	+	19	2901	c.2184G>T	c.(2182-2184)aaG>aaT	p.K728N	SULF1_ENST00000458141.2_Missense_Mutation_p.K728N|SULF1_ENST00000419716.3_Missense_Mutation_p.K728N|SULF1_ENST00000402687.4_Missense_Mutation_p.K728N|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	728				K -> R (in Ref. 4; BAC11258). {ECO:0000305}.	apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.K728N(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AGGAGAGGAAGGAGAAGAGAC	0.527																																						uc010lza.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7						c.(2182-2184)AAG>AAT		sulfatase 1 precursor							108.0	94.0	99.0					8																	70541814		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70541814G>T	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.2184G>T	8.37:g.70541814G>T	ENSP00000260128:p.Lys728Asn					SULF1_uc003xyd.2_Missense_Mutation_p.K728N|SULF1_uc003xye.2_Missense_Mutation_p.K728N|SULF1_uc003xyf.2_Missense_Mutation_p.K728N|SULF1_uc003xyg.2_Missense_Mutation_p.K728N|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_Translation_Start_Site	p.K728N	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		19	2901	+	Breast(64;0.0654)		728	K -> R (in Ref. 4; BAC11258).				Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.2184G>T	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772897	0.31411	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	4.62	2.65	0.31530	Alkaline-phosphatase-like, core domain (1);	0.237373	0.41396	D	0.000898	T	0.23727	0.0574	M	0.70595	2.14	0.48185	D	0.999604	B	0.11235	0.004	B	0.12837	0.008	T	0.05084	-1.0907	10	0.18710	T	0.47	.	7.4055	0.26987	0.339:0.0:0.6609:0.0	.	728	Q8IWU6	SULF1_HUMAN	N	728	ENSP00000403040:K728N;ENSP00000260128:K728N;ENSP00000385704:K728N;ENSP00000390315:K728N	ENSP00000260128:K728N	K	+	3	2	SULF1	70704368	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.269000	0.43346	1.145000	0.42336	0.563000	0.77884	AAG		PASS	0.527	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		29	79	29	79	---	---	---	---
TRPA1	8989	broad.mit.edu	37	8	72951117	72951117	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:72951117C>T	ENST00000262209.4	-	19	2485	c.2278G>A	c.(2278-2280)Gaa>Aaa	p.E760K	RP11-383H13.1_ENST00000457356.4_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	760					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)	p.E760K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TCTAGTATTTCTGAATGATCA	0.303																																						uc003xza.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|kidney(1)	6						c.(2278-2280)GAA>AAA		ankyrin-like protein 1	Menthol(DB00825)						76.0	74.0	75.0					8																	72951117		2203	4300	6503	SO:0001583	missense	8989					integral to plasma membrane		g.chr8:72951117C>T	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2278G>A	8.37:g.72951117C>T	ENSP00000262209:p.Glu760Lys					uc011lff.1_Intron|uc003xyy.2_Intron	p.E760K	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		19	2453	-			760			Extracellular (Potential).		A6NIN6	Missense_Mutation	SNP	ENST00000262209.4	37	c.2278G>A	CCDS34908.1	.	.	.	.	.	.	.	.	.	.	C	8.561	0.877819	0.17395	.	.	ENSG00000104321	ENST00000523582;ENST00000262209	T;T	0.77620	-1.11;-1.11	4.92	2.97	0.34412	.	0.427336	0.23558	N	0.046893	T	0.49115	0.1538	N	0.08118	0	0.38698	D	0.952921	B	0.15719	0.014	B	0.08055	0.003	T	0.48364	-0.9042	10	0.06494	T	0.89	-27.9247	5.6279	0.17492	0.0:0.6913:0.2029:0.1058	.	760	O75762	TRPA1_HUMAN	K	612;760	ENSP00000428151:E612K;ENSP00000262209:E760K	ENSP00000262209:E760K	E	-	1	0	TRPA1	73113671	0.998000	0.40836	0.951000	0.38953	0.396000	0.30629	0.638000	0.24674	2.439000	0.82584	0.650000	0.86243	GAA		PASS	0.303	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		18	62	18	62	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89209517	89209517	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:89209517C>A	ENST00000286614.6	-	2	432	c.151G>T	c.(151-153)Ggc>Tgc	p.G51C	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	51					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G51C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	GGAAGGTAGCCGTACTTTTGT	0.393																																						uc003yeb.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(151-153)GGC>TGC		matrix metalloproteinase 16 isoform 1							82.0	73.0	76.0					8																	89209517		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89209517C>A	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.151G>T	8.37:g.89209517C>A	ENSP00000286614:p.Gly51Cys					MMP16_uc003yec.2_Missense_Mutation_p.G51C	p.G51C	NM_005941	NP_005932	P51512	MMP16_HUMAN			2	433	-			51					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.151G>T	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	31	5.064449	0.93898	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.59772	0.24;0.24	6.08	6.08	0.98989	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85465	0.5703	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88512	0.3090	10	0.59425	D	0.04	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	51;51	P51512-2;P51512	.;MMP16_HUMAN	C	51;68	ENSP00000286614:G51C;ENSP00000429147:G68C	ENSP00000286614:G51C	G	-	1	0	MMP16	89278633	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GGC		PASS	0.393	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		16	43	16	43	---	---	---	---
MTERF3	51001	broad.mit.edu	37	8	97269295	97269295	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:97269295C>A	ENST00000287025.3	-	3	480	c.382G>T	c.(382-384)Gaa>Taa	p.E128*	MTERFD1_ENST00000524341.1_5'UTR|MTERFD1_ENST00000523821.1_Nonsense_Mutation_p.E128*|MTERFD1_ENST00000522822.1_Nonsense_Mutation_p.E7*	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		128					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)	p.E128K(1)|p.E128*(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					ATAGCCTCTTCCTCTGAAATT	0.408																																						uc003yhs.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(1)|skin(1)	ovary(1)	1						c.(382-384)GAA>TAA		MTERF domain containing 1 precursor							141.0	131.0	135.0					8																	97269295		2203	4300	6503	SO:0001587	stop_gained	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97269295C>A																												ENST00000287025.3:c.382G>T	8.37:g.97269295C>A	ENSP00000287025:p.Glu128*					MTERFD1_uc003yhr.1_Nonsense_Mutation_p.E7*|MTERFD1_uc010mbd.1_Nonsense_Mutation_p.E128*	p.E128*	NM_015942	NP_057026	Q96E29	MTER1_HUMAN			3	460	-	Breast(36;5.16e-05)		128					B3KMG6|G3V130|Q9Y301	Nonsense_Mutation	SNP	ENST00000287025.3	37	c.382G>T	CCDS6270.1	.	.	.	.	.	.	.	.	.	.	C	40	7.960317	0.98583	.	.	ENSG00000156469	ENST00000523821;ENST00000522822;ENST00000287025	.	.	.	6.17	3.35	0.38373	.	0.143023	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-5.9551	10.4258	0.44378	0.0:0.6819:0.2518:0.0664	.	.	.	.	X	128;7;128	.	ENSP00000287025:E128X	E	-	1	0	MTERFD1	97338471	1.000000	0.71417	0.996000	0.52242	0.825000	0.46686	1.824000	0.39072	0.445000	0.26639	0.655000	0.94253	GAA		PASS	0.408	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1			31	46	31	46	---	---	---	---
LAPTM4B	55353	broad.mit.edu	37	8	98787974	98787974	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:98787974C>T	ENST00000445593.2	+	1	690	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	RNU7-177P_ENST00000517101.1_RNA|LAPTM4B_ENST00000521545.2_5'Flank	NM_018407.4	NP_060877.3	Q86VI4	LAP4B_HUMAN	lysosomal protein transmembrane 4 beta	57					transport (GO:0006810)	integral component of membrane (GO:0016021)		p.R4W(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			GATGACGTCACGGACTCGGGT	0.697																																						uc003yia.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(10-12)CGG>TGG		lysosomal associated transmembrane protein 4							11.0	12.0	12.0					8																	98787974		1521	3349	4870	SO:0001583	missense	55353				transport	endomembrane system|integral to membrane	protein binding	g.chr8:98787974C>T	AF317417	CCDS6275.1	8q22.1	2008-08-11	2008-08-11		ENSG00000104341	ENSG00000104341			13646	protein-coding gene	gene with protein product		613296					Standard	NM_018407		Approved	LC27	uc003yia.3	Q86VI4	OTTHUMG00000164740	ENST00000445593.2:c.10C>T	8.37:g.98787974C>T	ENSP00000402301:p.Arg4Trp					LAPTM4B_uc010mbg.2_Missense_Mutation_p.R4W	p.R4W	NM_018407	NP_060877	Q86VI4	LAP4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.149)		1	166	+	Breast(36;1.59e-06)		57					Q3ZCV5|Q7L909|Q86VH8|Q9H060	Missense_Mutation	SNP	ENST00000445593.2	37	c.10C>T	CCDS6275.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048616	0.55110	.	.	ENSG00000104341	ENST00000445593;ENST00000378722	T	0.54479	0.57	3.31	3.31	0.37934	.	.	.	.	.	T	0.44030	0.1274	N	0.14661	0.345	0.80722	D	1	D;D	0.71674	0.998;0.99	P;B	0.50754	0.649;0.353	T	0.52003	-0.8633	9	0.87932	D	0	.	12.4274	0.55556	0.0:1.0:0.0:0.0	.	4;57	Q86SJ0;Q86VI4	.;LAP4B_HUMAN	W	4;50	ENSP00000402301:R4W	ENSP00000367995:R50W	R	+	1	2	LAPTM4B	98857150	0.171000	0.23029	0.941000	0.38009	0.670000	0.39368	1.863000	0.39459	2.154000	0.67381	0.643000	0.83706	CGG		PASS	0.697	LAPTM4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380014.1			6	25	6	25	---	---	---	---
SYBU	55638	broad.mit.edu	37	8	110592214	110592214	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:110592214C>T	ENST00000422135.1	-	6	1063	c.548G>A	c.(547-549)cGg>cAg	p.R183Q	SYBU_ENST00000528647.1_Missense_Mutation_p.R182Q|SYBU_ENST00000276646.9_Missense_Mutation_p.R183Q|SYBU_ENST00000399066.3_Missense_Mutation_p.R180Q|SYBU_ENST00000528331.1_Missense_Mutation_p.R64Q|SYBU_ENST00000408908.2_Missense_Mutation_p.R183Q|SYBU_ENST00000408889.3_Missense_Mutation_p.R64Q|SYBU_ENST00000446070.2_Missense_Mutation_p.R182Q|SYBU_ENST00000533895.1_Missense_Mutation_p.R182Q|SYBU_ENST00000533171.1_Missense_Mutation_p.R183Q|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000440310.1_Missense_Mutation_p.R183Q|SYBU_ENST00000529175.1_5'UTR|SYBU_ENST00000532779.1_Missense_Mutation_p.R115Q|SYBU_ENST00000533065.1_Missense_Mutation_p.R64Q|SYBU_ENST00000424158.2_Missense_Mutation_p.R188Q|SYBU_ENST00000433638.1_Missense_Mutation_p.R183Q|SYBU_ENST00000419099.1_Missense_Mutation_p.R182Q|SYBU_ENST00000529690.1_Missense_Mutation_p.R53Q	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	183	Ser-rich.|Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R180Q(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCCATTACTCCGCCCATGAGG	0.507																																						uc003ynj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(547-549)CGG>CAG		Golgi-localized syntaphilin-related protein							130.0	119.0	122.0					8																	110592214		1957	4162	6119	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110592214C>T	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.548G>A	8.37:g.110592214C>T	ENSP00000407118:p.Arg183Gln					SYBU_uc003yni.3_Missense_Mutation_p.R180Q|SYBU_uc003ynk.3_Missense_Mutation_p.R64Q|SYBU_uc010mco.2_Missense_Mutation_p.R182Q|SYBU_uc003ynl.3_Missense_Mutation_p.R182Q|SYBU_uc010mcp.2_Missense_Mutation_p.R183Q|SYBU_uc010mcq.2_Missense_Mutation_p.R183Q|SYBU_uc003yno.3_Missense_Mutation_p.R64Q|SYBU_uc010mcr.2_Missense_Mutation_p.R183Q|SYBU_uc003ynm.3_Missense_Mutation_p.R182Q|SYBU_uc003ynn.3_Missense_Mutation_p.R182Q|SYBU_uc010mcs.2_Missense_Mutation_p.R64Q|SYBU_uc010mct.2_Missense_Mutation_p.R183Q|SYBU_uc010mcu.2_Missense_Mutation_p.R182Q|SYBU_uc003ynp.3_Missense_Mutation_p.R115Q|SYBU_uc010mcv.2_Missense_Mutation_p.R183Q|SYBU_uc003ynh.3_5'UTR|SYBU_uc011lhw.1_Missense_Mutation_p.R53Q	p.R183Q	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN			5	711	-			183			Sufficient for interaction with KIF5B.|Ser-rich.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.548G>A	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837282	0.91117	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171;ENST00000533394;ENST00000528045;ENST00000529190;ENST00000528569;ENST00000532189	.	.	.	5.82	5.82	0.92795	.	0.440994	0.26279	N	0.025299	T	0.76350	0.3975	M	0.67953	2.075	0.44555	D	0.997518	D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;0.999	D;D;D;D;D	0.83275	0.928;0.996;0.928;0.928;0.928	T	0.77587	-0.2532	9	0.72032	D	0.01	-19.8584	12.3976	0.55393	0.0:0.9239:0.0:0.0761	.	53;115;182;183;180	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	Q	182;188;115;180;182;64;183;182;183;182;183;183;183;64;64;53;183;20;64;182;64;64	.	ENSP00000276646:R183Q	R	-	2	0	SYBU	110661390	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.086000	0.57664	2.756000	0.94617	0.561000	0.74099	CGG		PASS	0.507	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		11	294	11	294	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113395805	113395805	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:113395805T>A	ENST00000297405.5	-	37	6266	c.6022A>T	c.(6022-6024)Agc>Tgc	p.S2008C	CSMD3_ENST00000352409.3_Missense_Mutation_p.S1938C|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1904C|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1968C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2008	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1968C(1)|p.S2008C(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTGAATAGCTTCCAAGTCTT	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(6022-6024)AGC>TGC		CUB and Sushi multiple domains 3 isoform 1							77.0	75.0	76.0					8																	113395805		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113395805T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6022A>T	8.37:g.113395805T>A	ENSP00000297405:p.Ser2008Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.S1210C|CSMD3_uc003ynt.2_Missense_Mutation_p.S1968C|CSMD3_uc011lhx.1_Missense_Mutation_p.S1904C	p.S2008C	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			37	6181	-			2008			Extracellular (Potential).|CUB 11.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.6022A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.204097	0.79127	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	4.42	4.42	0.53409	CUB (5);	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.82056	2.57	0.54753	D	0.999982	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.97110	0.976;0.957;1.0	T	0.52208	-0.8606	10	0.52906	T	0.07	.	14.1168	0.65159	0.0:0.0:0.0:1.0	.	1904;2008;1968	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	1968;2008;1278;1904;1938	ENSP00000345799:S1968C;ENSP00000297405:S2008C;ENSP00000341558:S1278C;ENSP00000412263:S1904C;ENSP00000343124:S1938C	ENSP00000297405:S2008C	S	-	1	0	CSMD3	113464981	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.789000	0.85783	1.975000	0.57531	0.383000	0.25322	AGC		PASS	0.333	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		29	52	29	52	---	---	---	---
NOV	4856	broad.mit.edu	37	8	120429198	120429198	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:120429198G>C	ENST00000259526.3	+	2	526	c.299G>C	c.(298-300)gGc>gCc	p.G100A	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	Q9UIW2	PLXA1_HUMAN	nephroblastoma overexpressed	0	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.G100A(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)			AACCAGACTGGCATCTGCACG	0.587											OREG0018940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003yoq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|kidney(1)	5						c.(298-300)GGC>GCC		nephroblastoma overexpressed precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						48.0	43.0	45.0					8																	120429198		2203	4299	6502	SO:0001583	missense	4856				regulation of cell growth		growth factor activity|insulin-like growth factor binding	g.chr8:120429198G>C	X96584	CCDS6328.1	8q24.12	2012-02-27	2012-02-27		ENSG00000136999	ENSG00000136999			7885	protein-coding gene	gene with protein product		164958	"""nephroblastoma overexpressed gene"""			1334251	Standard	NM_002514		Approved	IGFBP9, CCN3	uc003yoq.2	P48745	OTTHUMG00000164984	ENST00000259526.3:c.299G>C	8.37:g.120429198G>C	ENSP00000259526:p.Gly100Ala		OREG0018940	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1503		p.G100A	NM_002514	NP_002505	P48745	NOV_HUMAN	STAD - Stomach adenocarcinoma(47;0.000507)		2	520	+	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		100			IGFBP N-terminal.			Missense_Mutation	SNP	ENST00000259526.3	37	c.299G>C	CCDS6328.1	.	.	.	.	.	.	.	.	.	.	G	31	5.093788	0.94149	.	.	ENSG00000136999	ENST00000259526	T	0.72835	-0.69	4.93	4.93	0.64822	Insulin-like growth factor-binding protein, IGFBP (2);	0.000000	0.85682	D	0.000000	D	0.85137	0.5628	M	0.80746	2.51	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.86168	0.1598	10	0.56958	D	0.05	-32.5515	18.6922	0.91588	0.0:0.0:1.0:0.0	.	100	P48745	NOV_HUMAN	A	100	ENSP00000259526:G100A	ENSP00000259526:G100A	G	+	2	0	NOV	120498379	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.173000	0.94815	2.715000	0.92844	0.561000	0.74099	GGC		PASS	0.587	NOV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381301.1	NM_002514		11	29	11	29	---	---	---	---
TAF2	6873	broad.mit.edu	37	8	120756528	120756528	+	Splice_Site	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:120756528C>A	ENST00000378164.2	-	24	3512	c.3214G>T	c.(3214-3216)Ggg>Tgg	p.G1072W	TAF2_ENST00000519355.1_5'Flank	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	1072					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G1072W(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CTAATCTTACCTGGAGTTGAC	0.378																																						uc003you.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(3214-3216)GGG>TGG		TBP-associated factor 2							126.0	119.0	121.0					8																	120756528		2203	4300	6503	SO:0001630	splice_region_variant	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120756528C>A	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.3214+1G>T	8.37:g.120756528C>A							p.G1072W	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		24	3484	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		1072					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.3214G>T	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.167424	0.78339	.	.	ENSG00000064313	ENST00000378164;ENST00000529653	T;T	0.46451	1.25;0.87	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.53642	0.1809	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46898	-0.9158	9	.	.	.	-0.3367	19.7449	0.96248	0.0:1.0:0.0:0.0	.	1072	Q6P1X5	TAF2_HUMAN	W	1072;248	ENSP00000367406:G1072W;ENSP00000436750:G248W	.	G	-	1	0	TAF2	120825709	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	7.710000	0.84655	2.677000	0.91161	0.591000	0.81541	GGG		PASS	0.378	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184	Missense_Mutation	26	117	26	117	---	---	---	---
TAF2	6873	broad.mit.edu	37	8	120801883	120801883	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:120801883G>A	ENST00000378164.2	-	12	1815	c.1517C>T	c.(1516-1518)tCc>tTc	p.S506F		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	506					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S506F(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTTGAAATGGATTTCAAAAA	0.403																																						uc003you.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(1516-1518)TCC>TTC		TBP-associated factor 2							97.0	98.0	98.0					8																	120801883		2203	4300	6503	SO:0001583	missense	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120801883G>A	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.1517C>T	8.37:g.120801883G>A	ENSP00000367406:p.Ser506Phe						p.S506F	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		12	1787	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		506					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Missense_Mutation	SNP	ENST00000378164.2	37	c.1517C>T	CCDS34937.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.34|19.34	3.809634|3.809634	0.70797|0.70797	.|.	.|.	ENSG00000064313|ENSG00000064313	ENST00000523904|ENST00000378164	.|T	.|0.41400	.|1.0	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.33440|0.33440	0.0863|0.0863	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|B	.|0.33266	.|0.404	.|B	.|0.28638	.|0.092	T|T	0.12993|0.12993	-1.0526|-1.0526	5|10	.|0.09084	.|T	.|0.74	-11.3577|-11.3577	20.2187|20.2187	0.98312|0.98312	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|506	.|Q6P1X5	.|TAF2_HUMAN	S|F	199|506	.|ENSP00000367406:S506F	.|ENSP00000367406:S506F	P|S	-|-	1|2	0|0	TAF2|TAF2	120871064|120871064	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.869000|9.869000	0.99810|0.99810	2.780000|2.780000	0.95670|0.95670	0.655000|0.655000	0.94253|0.94253	CCA|TCC		PASS	0.403	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		6	125	6	125	---	---	---	---
ASAP1	50807	broad.mit.edu	37	8	131136311	131136311	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:131136311T>C	ENST00000518721.1	-	18	1782	c.1555A>G	c.(1555-1557)Atg>Gtg	p.M519V	ASAP1_ENST00000357668.1_Missense_Mutation_p.M519V	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	519	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.M519V(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTTGCTTCCATAATATCATTA	0.328																																						uc003yta.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1555-1557)ATG>GTG		development and differentiation enhancing factor							106.0	119.0	114.0					8																	131136311		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131136311T>C	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1555A>G	8.37:g.131136311T>C	ENSP00000429900:p.Met519Val					ASAP1_uc003ysz.1_Missense_Mutation_p.M330V|ASAP1_uc011liw.1_Missense_Mutation_p.M512V	p.M519V	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			17	1583	-			519			Arf-GAP.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.1555A>G	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.17|14.17	2.454835|2.454835	0.43634|0.43634	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124	T;T|.	0.40476|.	1.03;1.03|.	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75117|0.75117	0.3806|0.3806	M|M	0.74881|0.74881	2.28|2.28	0.58432|0.58432	D|D	0.999998|0.999998	B;B;B|.	0.26602|.	0.088;0.088;0.154|.	B;B;B|.	0.22152|.	0.011;0.011;0.038|.	T|T	0.75436|0.75436	-0.3318|-0.3318	10|5	0.59425|.	D|.	0.04|.	.|.	15.6048|15.6048	0.76658|0.76658	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	519;519;522|.	B2RNV3;Q9ULH1;Q9ULH1-2|.	.;ASAP1_HUMAN;.|.	V|C	522;519;519|339	ENSP00000350297:M519V;ENSP00000429900:M519V|.	ENSP00000344591:M522V|.	M|Y	-|-	1|2	0|0	ASAP1|ASAP1	131205493|131205493	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.830000|3.830000	0.55768|0.55768	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	ATG|TAT		PASS	0.328	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		37	69	37	69	---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73233933	73233933	+	Silent	SNP	C	C	G	rs139079542	byFrequency	TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr9:73233933C>G	ENST00000377111.2	-	16	2415	c.2172G>C	c.(2170-2172)acG>acC	p.T724T	TRPM3_ENST00000408909.2_Silent_p.T583T|TRPM3_ENST00000358082.3_Silent_p.T586T|TRPM3_ENST00000423814.3_Silent_p.T751T|TRPM3_ENST00000396292.4_Silent_p.T596T|TRPM3_ENST00000377110.3_Silent_p.T724T|TRPM3_ENST00000360823.2_Silent_p.T586T|TRPM3_ENST00000396285.1_Silent_p.T571T|TRPM3_ENST00000396280.5_Silent_p.T573T|TRPM3_ENST00000357533.2_Silent_p.T728T|TRPM3_ENST00000377105.1_Silent_p.T583T|TRPM3_ENST00000377106.1_Silent_p.T596T	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	749					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)	p.T724T(1)|p.T596T(1)|p.T728T(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCAGCTCATACGTCAGCAGTT	0.577																																						uc004aid.2																			3	Substitution - coding silent(3)		lung(3)	ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(2170-2172)ACG>ACC		transient receptor potential cation channel,							108.0	76.0	87.0					9																	73233933		2203	4300	6503	SO:0001819	synonymous_variant	80036					integral to membrane	calcium channel activity	g.chr9:73233933C>G	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.2172G>C	9.37:g.73233933C>G						TRPM3_uc004ahu.2_Silent_p.T554T|TRPM3_uc004ahv.2_Silent_p.T526T|TRPM3_uc004ahw.2_Silent_p.T596T|TRPM3_uc004ahx.2_Silent_p.T583T|TRPM3_uc004ahy.2_Silent_p.T586T|TRPM3_uc004ahz.2_Silent_p.T573T|TRPM3_uc004aia.2_Silent_p.T571T|TRPM3_uc004aib.2_Silent_p.T561T|TRPM3_uc004aic.2_Silent_p.T724T	p.T724T	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			16	2416	-			749			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37	c.2172G>C		.	.	.	.	.	.	.	.	.	.	C	9.909	1.208945	0.22205	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.65	-4.14	0.03892	.	.	.	.	.	T	0.39410	0.1077	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39461	-0.9613	4	.	.	.	-19.6316	2.8995	0.05701	0.0949:0.1879:0.3327:0.3845	.	.	.	.	L	573	.	.	V	-	1	0	TRPM3	72423753	0.022000	0.18835	0.980000	0.43619	0.990000	0.78478	-1.282000	0.02799	-0.359000	0.08150	-0.274000	0.10170	GTA		PASS	0.577	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		3	82	3	82	---	---	---	---
RNF20	56254	broad.mit.edu	37	9	104317101	104317101	+	Silent	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr9:104317101G>A	ENST00000389120.3	+	15	2235	c.2145G>A	c.(2143-2145)caG>caA	p.Q715Q		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	715					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q715Q(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AATACCTACAGAAGAAGCTAG	0.403																																						uc004bbn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8						c.(2143-2145)CAG>CAA		ring finger protein 20							94.0	95.0	95.0					9																	104317101		2203	4300	6503	SO:0001819	synonymous_variant	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104317101G>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.2145G>A	9.37:g.104317101G>A							p.Q715Q	NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	15	2235	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	715			Potential.		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Silent	SNP	ENST00000389120.3	37	c.2145G>A	CCDS35084.1																																																																																				PASS	0.403	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		16	40	16	40	---	---	---	---
GAPVD1	26130	broad.mit.edu	37	9	128064643	128064643	+	Silent	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr9:128064643G>T	ENST00000495955.1	+	5	857	c.567G>T	c.(565-567)ctG>ctT	p.L189L	GAPVD1_ENST00000312123.9_Silent_p.L189L|RNU6-1020P_ENST00000363684.1_RNA|GAPVD1_ENST00000394083.2_Silent_p.L189L|GAPVD1_ENST00000394104.2_Silent_p.L189L|GAPVD1_ENST00000265956.4_Silent_p.L189L|GAPVD1_ENST00000470056.1_Silent_p.L189L|GAPVD1_ENST00000297933.6_Silent_p.L189L|GAPVD1_ENST00000394084.1_Silent_p.L189L|GAPVD1_ENST00000394105.2_Silent_p.L189L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	189	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.L189L(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTGAAGGACTGTTTTCTGCCA	0.388																																						uc010mwx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(565-567)CTG>CTT		GTPase activating protein and VPS9 domains 1							71.0	69.0	70.0					9																	128064643		2203	4300	6503	SO:0001819	synonymous_variant	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128064643G>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.567G>T	9.37:g.128064643G>T						GAPVD1_uc004bpo.2_Silent_p.L189L|GAPVD1_uc011lzs.1_Silent_p.L189L|GAPVD1_uc004bpp.2_Silent_p.L189L|GAPVD1_uc004bpq.2_Silent_p.L189L|GAPVD1_uc004bpr.2_Silent_p.L189L|GAPVD1_uc004bps.2_Silent_p.L189L|GAPVD1_uc010mwy.1_Silent_p.L48L	p.L189L	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN			5	893	+			189			Ras-GAP.		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Silent	SNP	ENST00000495955.1	37	c.567G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.621|6.621	0.483029|0.483029	0.12581|0.12581	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000431329|ENST00000436712	.|.	.|.	.|.	5.84|5.84	0.262|0.262	0.15597|0.15597	.|.	.|.	.|.	.|.	.|.	T|T	0.53738|0.53738	0.1815|0.1815	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.43475|0.43475	-0.9389|-0.9389	4|4	.|.	.|.	.|.	.|.	7.1531|7.1531	0.25622|0.25622	0.0752:0.571:0.1729:0.1809|0.0752:0.571:0.1729:0.1809	.|.	.|.	.|.	.|.	F|F	52|20	.|.	.|.	C|V	+|+	2|1	0|0	GAPVD1|GAPVD1	127104464|127104464	0.910000|0.910000	0.30920|0.30920	0.998000|0.998000	0.56505|0.56505	0.999000|0.999000	0.98932|0.98932	-0.069000|-0.069000	0.11542|0.11542	0.047000|0.047000	0.15862|0.15862	0.655000|0.655000	0.94253|0.94253	TGT|GTT		PASS	0.388	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			3	85	3	85	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16870833	16870833	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr10:16870833A>T	ENST00000377833.4	-	66	10800	c.10735T>A	c.(10735-10737)Tct>Act	p.S3579T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3579	CUB 27. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S3579T(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAGGATGGAGAGCTGGCGTTG	0.433											OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(10735-10737)TCT>ACT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						125.0	117.0	120.0					10																	16870833		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16870833A>T	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.10735T>A	10.37:g.16870833A>T	ENSP00000367064:p.Ser3579Thr		OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	713		p.S3579T	NM_001081	NP_001072	O60494	CUBN_HUMAN			66	10787	-			3579			CUB 27.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.10735T>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	A	11.64	1.699941	0.30142	.	.	ENSG00000107611	ENST00000377833;ENST00000545090	T	0.33438	1.41	5.74	4.59	0.56863	CUB (5);	0.000000	0.41396	D	0.000891	T	0.38108	0.1028	M	0.75447	2.3	0.80722	D	1	P	0.43938	0.822	P	0.48952	0.596	T	0.21518	-1.0243	10	0.21540	T	0.41	.	6.0602	0.19835	0.7288:0.1495:0.1218:0.0	.	3579	O60494	CUBN_HUMAN	T	3579;420	ENSP00000367064:S3579T	ENSP00000367064:S3579T	S	-	1	0	CUBN	16910839	0.996000	0.38824	0.125000	0.21846	0.007000	0.05969	3.536000	0.53582	0.984000	0.38629	0.459000	0.35465	TCT		PASS	0.433	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		7	91	7	91	---	---	---	---
VIM	7431	broad.mit.edu	37	10	17271981	17271981	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr10:17271981A>G	ENST00000224237.5	+	1	705	c.560A>G	c.(559-561)gAg>gGg	p.E187G	VIM-AS1_ENST00000605833.1_RNA|VIM_ENST00000485947.1_3'UTR|VIM_ENST00000544301.1_Missense_Mutation_p.E187G			P08670	VIME_HUMAN	vimentin	187	Coil 1B.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.E187G(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGCCTCCGGGAGAAGTAAGGC	0.701																																						uc001iou.2																			1	Substitution - Missense(1)	p.E187*(1)	lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(559-561)GAG>GGG		vimentin							13.0	14.0	14.0					10																	17271981		2176	4242	6418	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17271981A>G	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.560A>G	10.37:g.17271981A>G	ENSP00000224237:p.Glu187Gly					uc001iot.1_RNA|VIM_uc001iov.1_Missense_Mutation_p.E187G|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.E187G|VIM_uc001ioy.1_Missense_Mutation_p.E187G|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.E187G|VIM_uc001ipc.1_Missense_Mutation_p.E187G	p.E187G	NM_003380	NP_003371	P08670	VIME_HUMAN			2	973	+			187			Rod.|Coil 1B.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.560A>G	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.433876	0.83776	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.89617	-2.54;-2.54	5.15	5.15	0.70609	Filament (1);	0.000000	0.45606	U	0.000348	D	0.85388	0.5685	L	0.43598	1.365	0.80722	D	1	B;B;B;B;B	0.28128	0.051;0.041;0.201;0.201;0.051	B;B;B;B;B	0.28849	0.041;0.024;0.095;0.095;0.041	T	0.83025	-0.0165	10	0.38643	T	0.18	.	14.9587	0.71138	1.0:0.0:0.0:0.0	.	187;174;174;187;187	Q53HU8;F5H288;B3KRK8;B0YJC4;P08670	.;.;.;.;VIME_HUMAN	G	187;187;174	ENSP00000446007:E187G;ENSP00000224237:E187G	ENSP00000224237:E187G	E	+	2	0	VIM	17311987	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	7.295000	0.78780	1.925000	0.55765	0.450000	0.29827	GAG		PASS	0.701	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		7	14	7	14	---	---	---	---
SLC39A12	221074	broad.mit.edu	37	10	18254536	18254536	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr10:18254536G>T	ENST00000377369.2	+	4	941	c.668G>T	c.(667-669)gGa>gTa	p.G223V	SLC39A12_ENST00000377374.4_Missense_Mutation_p.G223V|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G223V|SLC39A12_ENST00000539911.1_Missense_Mutation_p.G89V	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	223					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)	p.G223V(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GTTTGTCTGGGACAAGGAAAC	0.438																																						uc001ipo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(667-669)GGA>GTA		solute carrier family 39 (zinc transporter),							84.0	80.0	81.0					10																	18254536		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18254536G>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.668G>T	10.37:g.18254536G>T	ENSP00000366586:p.Gly223Val					SLC39A12_uc001ipn.2_Missense_Mutation_p.G223V|SLC39A12_uc001ipp.2_Missense_Mutation_p.G223V|SLC39A12_uc010qck.1_Missense_Mutation_p.G89V	p.G223V	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			4	941	+			223			Helical; (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.668G>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007462	0.75046	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.64085	0.05;-0.08;0.04;-0.03	6.02	6.02	0.97574	.	0.105777	0.64402	D	0.000003	T	0.78892	0.4355	M	0.76574	2.34	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.72982	0.979;0.953;0.979	T	0.80096	-0.1525	10	0.87932	D	0	-17.7865	15.9588	0.79910	0.0:0.134:0.866:0.0	.	223;223;223	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	V	223;223;223;89;143	ENSP00000366586:G223V;ENSP00000366591:G223V;ENSP00000366588:G223V;ENSP00000440445:G89V	ENSP00000366586:G223V	G	+	2	0	SLC39A12	18294542	1.000000	0.71417	0.980000	0.43619	0.989000	0.77384	3.937000	0.56575	2.865000	0.98341	0.655000	0.94253	GGA		PASS	0.438	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		17	59	17	59	---	---	---	---
NEBL	10529	broad.mit.edu	37	10	21185952	21185952	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr10:21185952A>T	ENST00000377122.4	-	2	484	c.88T>A	c.(88-90)Tat>Aat	p.Y30N	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377119.1_Missense_Mutation_p.Y30N|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	30					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.Y30N(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACAGGCTTATAGAAGACCTAT	0.353																																						uc001iqi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(88-90)TAT>AAT		nebulette sarcomeric isoform							143.0	145.0	144.0					10																	21185952		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21185952A>T	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.88T>A	10.37:g.21185952A>T	ENSP00000366326:p.Tyr30Asn					NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron	p.Y30N	NM_006393	NP_006384	O76041	NEBL_HUMAN			2	485	-			30			Nebulin 1.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.88T>A	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	A	18.52	3.641055	0.67244	.	.	ENSG00000078114	ENST00000377122;ENST00000377119;ENST00000434381	T;T;T	0.42131	3.39;1.97;0.98	5.76	-2.26	0.06867	.	1.010040	0.07923	N	0.976206	T	0.27559	0.0677	N	0.14661	0.345	0.09310	N	1	B	0.28512	0.214	B	0.28784	0.094	T	0.33574	-0.9863	10	0.72032	D	0.01	.	12.8514	0.57860	0.2591:0.0:0.7409:0.0	.	30	O76041	NEBL_HUMAN	N	30;30;14	ENSP00000366326:Y30N;ENSP00000366323:Y30N;ENSP00000396512:Y14N	ENSP00000366323:Y30N	Y	-	1	0	NEBL	21225958	0.132000	0.22450	0.000000	0.03702	0.849000	0.48306	0.405000	0.21015	-0.336000	0.08438	-0.250000	0.11733	TAT		PASS	0.353	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		5	141	5	141	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26432395	26432395	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr10:26432395G>C	ENST00000265944.5	+	21	2447	c.2281G>C	c.(2281-2283)Gat>Cat	p.D761H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	761	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D761H(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CCTAAATGAAGATGTGGATGC	0.308																																						uc001isn.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(2281-2283)GAT>CAT		myosin IIIA							111.0	111.0	111.0					10																	26432395		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26432395G>C	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2281G>C	10.37:g.26432395G>C	ENSP00000265944:p.Asp761His					MYO3A_uc009xko.1_Missense_Mutation_p.D761H|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	p.D761H	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			21	2641	+			761			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2281G>C	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277104	0.80580	.	.	ENSG00000095777	ENST00000265944	T	0.72505	-0.66	6.02	5.12	0.69794	Myosin head, motor domain (2);	0.299435	0.40302	N	0.001132	T	0.78629	0.4313	L	0.44542	1.39	0.80722	D	1	P	0.41498	0.752	P	0.59761	0.863	T	0.80331	-0.1427	10	0.72032	D	0.01	.	15.4379	0.75160	0.0664:0.0:0.9336:0.0	.	761	Q8NEV4	MYO3A_HUMAN	H	761	ENSP00000265944:D761H	ENSP00000265944:D761H	D	+	1	0	MYO3A	26472401	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.781000	0.75068	1.554000	0.49487	0.650000	0.86243	GAT		PASS	0.308	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		12	20	12	20	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37422867	37422867	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr10:37422867G>A	ENST00000602533.1	+	5	572	c.473G>A	c.(472-474)tGt>tAt	p.C158Y	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.C158Y|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.C158Y|RNU6-811P_ENST00000384069.1_RNA			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	214					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C158Y(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTTGCTGTATGTCATGGATCA	0.373																																						uc001iza.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(472-474)TGT>TAT		ankyrin repeat domain 30A							197.0	181.0	186.0					10																	37422867		1913	4130	6043	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37422867G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.473G>A	10.37:g.37422867G>A	ENSP00000473551:p.Cys158Tyr						p.C158Y	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			5	572	+			214			ANK 5.		Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.473G>A		.	.	.	.	.	.	.	.	.	.	.	0.220	-1.029536	0.02045	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.64260	-0.06;-0.09	1.43	-2.86	0.05717	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.45836	0.1362	N	0.12887	0.27	0.09310	N	1	D	0.59357	0.985	P	0.62435	0.902	T	0.41893	-0.9483	9	0.02654	T	1	.	2.4661	0.04553	0.2959:0.0:0.4448:0.2594	.	214	Q9BXX3	AN30A_HUMAN	Y	158	ENSP00000354432:C158Y;ENSP00000363792:C158Y	ENSP00000354432:C158Y	C	+	2	0	ANKRD30A	37462873	0.009000	0.17119	0.000000	0.03702	0.057000	0.15508	-0.138000	0.10374	-0.837000	0.04223	0.289000	0.19496	TGT		PASS	0.373	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		28	209	28	209	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37454039	37454039	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr10:37454039G>A	ENST00000602533.1	+	18	1951	c.1852G>A	c.(1852-1854)Gaa>Aaa	p.E618K	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.E618K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E618K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	674					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E618K(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACTCCCATCAGAATCCAAACA	0.284																																						uc001iza.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(1852-1854)GAA>AAA		ankyrin repeat domain 30A							113.0	107.0	109.0					10																	37454039		1802	4062	5864	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37454039G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1852G>A	10.37:g.37454039G>A	ENSP00000473551:p.Glu618Lys						p.E618K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			18	1951	+			674					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1852G>A		.	.	.	.	.	.	.	.	.	.	.	3.321	-0.138827	0.06669	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06608	3.28;3.28	1.01	-2.02	0.07388	.	.	.	.	.	T	0.07954	0.0199	L	0.43152	1.355	0.09310	N	1	P	0.40332	0.713	P	0.51742	0.678	T	0.23440	-1.0188	9	0.11794	T	0.64	.	2.9377	0.05819	0.3817:0.2359:0.3824:0.0	.	674	Q9BXX3	AN30A_HUMAN	K	618	ENSP00000354432:E618K;ENSP00000363792:E618K	ENSP00000354432:E618K	E	+	1	0	ANKRD30A	37494045	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.001000	0.13038	-1.469000	0.01890	-2.176000	0.00320	GAA		PASS	0.284	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		22	66	22	66	---	---	---	---
CHAT	1103	broad.mit.edu	37	10	50835781	50835781	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr10:50835781C>A	ENST00000337653.2	+	7	1214	c.1061C>A	c.(1060-1062)aCg>aAg	p.T354K	CHAT_ENST00000455728.2_Missense_Mutation_p.T236K|CHAT_ENST00000351556.3_Missense_Mutation_p.T236K|CHAT_ENST00000395562.2_Missense_Mutation_p.T272K|CHAT_ENST00000339797.1_Missense_Mutation_p.T236K|CHAT_ENST00000395559.2_Missense_Mutation_p.T236K	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	354					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)	p.T354K(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GGCCTGCTGACGTCTGACGGG	0.592																																						uc001jhz.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)	3	GRCh37	CM055128	CHAT	M		c.(1060-1062)ACG>AAG		choline acetyltransferase isoform 2	Choline(DB00122)						102.0	84.0	90.0					10																	50835781		2203	4300	6503	SO:0001583	missense	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50835781C>A	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.1061C>A	10.37:g.50835781C>A	ENSP00000337103:p.Thr354Lys					CHAT_uc001jhv.1_Missense_Mutation_p.T236K|CHAT_uc001jhx.1_Missense_Mutation_p.T236K|CHAT_uc001jhy.1_Missense_Mutation_p.T236K|CHAT_uc001jia.2_Missense_Mutation_p.T236K|CHAT_uc010qgs.1_Missense_Mutation_p.T236K	p.T354K	NM_020549	NP_065574	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	7	1214	+		all_neural(218;0.107)	354					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Missense_Mutation	SNP	ENST00000337653.2	37	c.1061C>A	CCDS7232.1	.	.	.	.	.	.	.	.	.	.	C	31	5.077906	0.94000	.	.	ENSG00000070748	ENST00000339797;ENST00000351556;ENST00000395559;ENST00000337653;ENST00000395562;ENST00000455728	D;D;D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77;-2.77;-2.77	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.97018	0.9026	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97871	1.0286	10	0.87932	D	0	-19.7733	19.4314	0.94768	0.0:1.0:0.0:0.0	.	236;354	F8W8I2;P28329	.;CLAT_HUMAN	K	236;236;236;354;272;236	ENSP00000343486:T236K;ENSP00000345878:T236K;ENSP00000378926:T236K;ENSP00000337103:T354K;ENSP00000378929:T272K;ENSP00000390521:T236K	ENSP00000337103:T354K	T	+	2	0	CHAT	50505787	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	5.659000	0.68010	2.656000	0.90262	0.591000	0.81541	ACG		PASS	0.592	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		30	40	30	40	---	---	---	---
PALD1	27143	broad.mit.edu	37	10	72289727	72289727	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr10:72289727G>T	ENST00000263563.6	+	4	639	c.371G>T	c.(370-372)cGg>cTg	p.R124L		NM_014431.2	NP_055246.2	Q9ULE6	PALD_HUMAN	phosphatase domain containing, paladin 1	124						cytosol (GO:0005829)		p.R124L(1)									CCCAACTTCCGGCAGGTGCAG	0.637																																						uc001jrd.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(370-372)CGG>CTG		KIAA1274							40.0	40.0	40.0					10																	72289727		2203	4300	6503	SO:0001583	missense	27143							g.chr10:72289727G>T	AB033100	CCDS31215.1	10q22.2	2012-07-17	2012-07-17	2012-07-17	ENSG00000107719	ENSG00000107719			23530	protein-coding gene	gene with protein product		614656	"""paladin"", ""KIAA1274"""	PALD, KIAA1274			Standard	NM_014431		Approved		uc001jrd.4	Q9ULE6	OTTHUMG00000018411	ENST00000263563.6:c.371G>T	10.37:g.72289727G>T	ENSP00000263563:p.Arg124Leu						p.R124L	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN			4	652	+			124					B2RMS1|B9EGC6|Q5JTK7|Q5JTK8	Missense_Mutation	SNP	ENST00000263563.6	37	c.371G>T	CCDS31215.1	.	.	.	.	.	.	.	.	.	.	G	34	5.362141	0.95877	.	.	ENSG00000107719	ENST00000263563;ENST00000373214	T	0.34472	1.36	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.67335	0.2882	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72750	-0.4199	10	0.72032	D	0.01	-30.3066	19.0607	0.93091	0.0:0.0:1.0:0.0	.	124	Q9ULE6	PALD_HUMAN	L	124	ENSP00000263563:R124L	ENSP00000263563:R124L	R	+	2	0	KIAA1274	71959733	1.000000	0.71417	0.988000	0.46212	0.892000	0.51952	9.590000	0.98238	2.677000	0.91161	0.563000	0.77884	CGG		PASS	0.637	PALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048515.2	NM_014431		3	56	3	56	---	---	---	---
CDH23	64072	broad.mit.edu	37	10	73406254	73406254	+	Silent	SNP	T	T	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr10:73406254T>C	ENST00000224721.6	+	13	1349	c.1344T>C	c.(1342-1344)taT>taC	p.Y448Y	CDH23_ENST00000299366.7_Silent_p.Y488Y|CDH23_ENST00000398809.4_Silent_p.Y443Y|CDH23_ENST00000398842.3_Silent_p.Y443Y|CDH23_ENST00000461841.3_Silent_p.Y488Y	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	443	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)	p.Y443Y(1)|p.Y448Y(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATGTGGGCTATGCCAAGGTGA	0.557																																						uc001jrx.3																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(1327-1329)TAT>TAC		cadherin-like 23 isoform 1 precursor							157.0	164.0	162.0					10																	73406254		2081	4217	6298	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73406254T>C	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1344T>C	10.37:g.73406254T>C						CDH23_uc001jrw.3_Silent_p.Y443Y|CDH23_uc001jry.2_Silent_p.Y59Y|CDH23_uc001jrz.2_Silent_p.Y59Y	p.Y443Y	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			13	1706	+			443			Cadherin 4.|Extracellular (Potential).		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.1329T>C																																																																																					PASS	0.557	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	NM_052836		84	119	84	119	---	---	---	---
FAM213A	84293	broad.mit.edu	37	10	82187220	82187220	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr10:82187220G>A	ENST00000372181.1	+	4	1014	c.544G>A	c.(544-546)Ggg>Agg	p.G182R	FAM213A_ENST00000372185.1_Missense_Mutation_p.G171R|FAM213A_ENST00000372187.5_Missense_Mutation_p.G182R|FAM213A_ENST00000372188.1_Missense_Mutation_p.G182R	NM_001243778.1|NM_001243782.1	NP_001230707.1|NP_001230711.1	Q9BRX8	F213A_HUMAN	family with sequence similarity 213, member A	182					oxidation-reduction process (GO:0055114)|regulation of osteoclast differentiation (GO:0045670)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)	p.G182R(1)									CTTCATCCTTGGGGGAGTTTT	0.502																																						uc001kcc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(544-546)GGG>AGG		hypothetical protein LOC84293 precursor							114.0	96.0	102.0					10																	82187220		2203	4300	6503	SO:0001583	missense	84293					extracellular region		g.chr10:82187220G>A	AF086462	CCDS7368.1, CCDS58089.1	10q23.1	2011-12-08	2011-12-08	2011-12-08	ENSG00000122378	ENSG00000122378			28651	protein-coding gene	gene with protein product	"""peroxiredoxin-like 2 activated in M-CSF stimulated monocytes"""		"""chromosome 10 open reading frame 58"""	C10orf58		11483580, 19951071	Standard	NM_032333		Approved	MGC4248, PAMM	uc001kce.4	Q9BRX8	OTTHUMG00000018614	ENST00000372181.1:c.544G>A	10.37:g.82187220G>A	ENSP00000361254:p.Gly182Arg					C10orf58_uc001kcd.3_Missense_Mutation_p.G171R|C10orf58_uc001kce.3_Missense_Mutation_p.G182R|C10orf58_uc001kcf.3_Missense_Mutation_p.G182R	p.G182R	NM_032333	NP_115709	Q9BRX8	CJ058_HUMAN	Colorectal(32;0.229)		5	704	+			182					B2RD81|Q6UW08|Q8N2K3|Q8NBK9|Q96JR0	Missense_Mutation	SNP	ENST00000372181.1	37	c.544G>A	CCDS7368.1	.	.	.	.	.	.	.	.	.	.	G	33	5.276937	0.95459	.	.	ENSG00000122378	ENST00000372188;ENST00000372187;ENST00000372185;ENST00000372181	T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.91136	0.7209	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92503	0.6010	10	0.87932	D	0	2.0491	17.9177	0.88957	0.0:0.0:1.0:0.0	.	182	Q9BRX8	PAMM_HUMAN	R	182;182;171;182	ENSP00000361262:G182R;ENSP00000361261:G182R;ENSP00000361259:G171R;ENSP00000361254:G182R	ENSP00000361254:G182R	G	+	1	0	C10orf58	82177200	1.000000	0.71417	0.781000	0.31783	0.966000	0.64601	9.447000	0.97595	2.828000	0.97474	0.655000	0.94253	GGG		PASS	0.502	FAM213A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049077.2			34	42	34	42	---	---	---	---
MYOF	26509	broad.mit.edu	37	10	95093544	95093544	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr10:95093544C>G	ENST00000359263.4	-	42	4689	c.4690G>C	c.(4690-4692)Gag>Cag	p.E1564Q	MYOF_ENST00000371502.4_Missense_Mutation_p.E1583Q|MYOF_ENST00000371501.4_Missense_Mutation_p.E1564Q|MYOF_ENST00000358334.5_Missense_Mutation_p.E1551Q	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1564	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.E1564Q(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGCTGGAGCTCTAAGCCTCGA	0.522																																						uc001kin.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(4690-4692)GAG>CAG		myoferlin isoform a							83.0	86.0	85.0					10																	95093544		1981	4168	6149	SO:0001583	missense	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95093544C>G	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.4690G>C	10.37:g.95093544C>G	ENSP00000352208:p.Glu1564Gln					MYOF_uc001kio.2_Missense_Mutation_p.E1551Q|MYOF_uc009xue.2_RNA	p.E1564Q	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN			42	4813	-			1564			Cytoplasmic (Potential).|C2 5.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	ENST00000359263.4	37	c.4690G>C	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.238090	0.39598	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.23	2.23	0.28157	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.530450	0.21498	N	0.073576	T	0.31544	0.0800	N	0.20881	0.62	0.24229	N	0.995408	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.16012	-1.0417	10	0.39692	T	0.17	-1.8694	17.6118	0.88055	0.0:0.4885:0.5115:0.0	.	1551;1564	Q9NZM1-6;Q9NZM1	.;MYOF_HUMAN	Q	1551;1564;1564;1583	ENSP00000351094:E1551Q;ENSP00000352208:E1564Q;ENSP00000360556:E1564Q;ENSP00000360557:E1583Q	ENSP00000351094:E1551Q	E	-	1	0	MYOF	95083534	0.996000	0.38824	0.986000	0.45419	0.994000	0.84299	1.981000	0.40628	0.299000	0.22661	0.650000	0.86243	GAG		PASS	0.522	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		8	46	8	46	---	---	---	---
PLCE1	51196	broad.mit.edu	37	10	95791902	95791902	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr10:95791902A>G	ENST00000371380.3	+	1	1334	c.1099A>G	c.(1099-1101)Aag>Gag	p.K367E	PLCE1_ENST00000260766.3_Missense_Mutation_p.K367E			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	367					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.K367E(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CATAGATCAGAAGAGAAATGG	0.483																																						uc001kjk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1099-1101)AAG>GAG		phospholipase C, epsilon 1 isoform 1							80.0	80.0	80.0					10																	95791902		1922	4140	6062	SO:0001583	missense	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:95791902A>G		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1099A>G	10.37:g.95791902A>G	ENSP00000360431:p.Lys367Glu					PLCE1_uc010qnx.1_Missense_Mutation_p.K367E	p.K367E	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			2	1733	+		Colorectal(252;0.0458)	367					A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	c.1099A>G	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	A	13.16	2.155510	0.38021	.	.	ENSG00000138193	ENST00000260766;ENST00000371380	T;T	0.71579	-0.58;-0.58	5.65	5.65	0.86999	Ras guanine nucleotide exchange factor, domain (1);	0.219723	0.30519	N	0.009451	T	0.55721	0.1938	N	0.24115	0.695	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.53070	-0.8490	10	0.41790	T	0.15	.	10.3773	0.44090	0.8543:0.0:0.0:0.1457	.	367;367	B7ZM61;Q9P212	.;PLCE1_HUMAN	E	367	ENSP00000260766:K367E;ENSP00000360431:K367E	ENSP00000260766:K367E	K	+	1	0	PLCE1	95781892	1.000000	0.71417	0.997000	0.53966	0.879000	0.50718	4.305000	0.59110	2.146000	0.66826	0.533000	0.62120	AAG		PASS	0.483	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341		32	35	32	35	---	---	---	---
PDCD4	27250	broad.mit.edu	37	10	112653929	112653929	+	Silent	SNP	T	T	C	rs185605824	byFrequency	TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr10:112653929T>C	ENST00000280154.7	+	9	1345	c.1071T>C	c.(1069-1071)ccT>ccC	p.P357P	PDCD4_ENST00000393104.2_Silent_p.P346P|PDCD4_ENST00000481353.1_3'UTR	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	357	MI 2. {ECO:0000255|PROSITE- ProRule:PRU00698}.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.P357P(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TGGAAGTACCTCATTTTCACC	0.333																																					Ovarian(115;1498 1603 9363 40056 40885)	uc001kzh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1069-1071)CCT>CCC		programmed cell death 4 isoform 1							130.0	136.0	134.0					10																	112653929		2203	4298	6501	SO:0001819	synonymous_variant	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112653929T>C	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	ENST00000280154.7:c.1071T>C	10.37:g.112653929T>C						PDCD4_uc001kzg.2_Silent_p.P346P|PDCD4_uc010qre.1_Silent_p.P343P	p.P357P	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	9	1314	+		Breast(234;0.0848)|Lung NSC(174;0.238)	357			MI 2.		B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Silent	SNP	ENST00000280154.7	37	c.1071T>C	CCDS7567.1																																																																																				PASS	0.333	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	NM_014456		4	115	4	115	---	---	---	---
LHPP	64077	broad.mit.edu	37	10	126172723	126172723	+	Silent	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr10:126172723G>A	ENST00000368842.5	+	2	169	c.141G>A	c.(139-141)cgG>cgA	p.R47R	LHPP_ENST00000392757.4_Silent_p.R47R|LHPP_ENST00000368839.1_Silent_p.R47R	NM_022126.3	NP_071409.3	Q9H008	LHPP_HUMAN	phospholysine phosphohistidine inorganic pyrophosphate phosphatase	47					phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|magnesium ion binding (GO:0000287)|phosphohistidine phosphatase activity (GO:0008969)|protein homodimerization activity (GO:0042803)	p.R47R(1)		large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		AGCGTTCCCGGCTGAAGGTGA	0.617																																					GBM(165;1980 2715 15999 18454)	uc001lhs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(139-141)CGG>CGA		phospholysine phosphohistidine inorganic							33.0	34.0	33.0					10																	126172723		2203	4300	6503	SO:0001819	synonymous_variant	64077				protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity	g.chr10:126172723G>A	AB049629	CCDS7640.1, CCDS53587.1	10q26.2	2010-02-17			ENSG00000107902	ENSG00000107902	3.6.1.1		30042	protein-coding gene	gene with protein product						12801912, 16430861	Standard	NM_022126		Approved	HDHD2B	uc001lhs.2	Q9H008	OTTHUMG00000019214	ENST00000368842.5:c.141G>A	10.37:g.126172723G>A						LHPP_uc001lht.1_Silent_p.R47R|LHPP_uc009yai.1_Silent_p.R47R	p.R47R	NM_022126	NP_071409	Q9H008	LHPP_HUMAN		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)	2	161	+		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	47					B3KP20|Q2TBE9|Q5VUV9|Q5VUW0	Silent	SNP	ENST00000368842.5	37	c.141G>A	CCDS7640.1																																																																																				PASS	0.617	LHPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050870.1	NM_022126		3	36	3	36	---	---	---	---
OR51B4	79339	broad.mit.edu	37	11	5322984	5322984	+	Missense_Mutation	SNP	C	C	T	rs115914853	byFrequency	TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:5322984C>T	ENST00000380224.1	-	1	242	c.193G>A	c.(193-195)Gca>Aca	p.A65T	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	65					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A65T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCGTGTCTGCCAGCATAGCC	0.517													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		22100	0.0		0.0	False		,,,				2504	0.0					uc010qza.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(193-195)GCA>ACA		olfactory receptor, family 51, subfamily B,		C	THR/ALA	2,4400	6.2+/-15.9	0,2,2199	114.0	106.0	109.0		193	3.5	1.0	11	dbSNP_132	109	0,8594		0,0,4297	yes	missense	OR51B4	NM_033179.2	58	0,2,6496	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	65/311	5322984	2,12994	2201	4297	6498	SO:0001583	missense	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5322984C>T	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.193G>A	11.37:g.5322984C>T	ENSP00000369573:p.Ala65Thr					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.A65T	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	193	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	65			Helical; Name=2; (Potential).		A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	c.193G>A	CCDS7757.1	4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	C	16.60	3.168390	0.57584	4.54E-4	0.0	ENSG00000183251	ENST00000380224	T	0.03094	4.05	4.39	3.47	0.39725	GPCR, rhodopsin-like superfamily (1);	0.130963	0.34879	N	0.003620	T	0.19725	0.0474	H	0.96208	3.785	0.28556	N	0.911365	D	0.89917	1.0	D	0.97110	1.0	T	0.33624	-0.9861	10	0.87932	D	0	.	12.513	0.56015	0.1679:0.8321:0.0:0.0	.	65	Q9Y5P0	O51B4_HUMAN	T	65	ENSP00000369573:A65T	ENSP00000369573:A65T	A	-	1	0	OR51B4	5279560	1.000000	0.71417	0.988000	0.46212	0.465000	0.32709	1.241000	0.32743	1.061000	0.40601	0.655000	0.94253	GCA		PASS	0.517	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		37	86	37	86	---	---	---	---
OR51B6	390058	broad.mit.edu	37	11	5373029	5373029	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:5373029C>G	ENST00000380219.1	+	1	292	c.292C>G	c.(292-294)Cag>Gag	p.Q98E	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	98					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q98E(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCTTCTCTCAGGCCTATTT	0.493																																						uc010qzb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(292-294)CAG>GAG		olfactory receptor, family 51, subfamily B,							123.0	117.0	119.0					11																	5373029		2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373029C>G		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.292C>G	11.37:g.5373029C>G	ENSP00000369568:p.Gln98Glu					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.Q98E	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	292	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	98			Helical; Name=3; (Potential).			Missense_Mutation	SNP	ENST00000380219.1	37	c.292C>G	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749221	0.49257	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.04706	3.57	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000115	T	0.28830	0.0715	H	0.98005	4.125	0.46279	D	0.998969	D	0.54964	0.969	P	0.52514	0.701	T	0.54636	-0.8264	10	0.87932	D	0	.	17.0455	0.86501	0.0:1.0:0.0:0.0	.	98	Q9H340	O51B6_HUMAN	E	97;98	ENSP00000369568:Q98E	ENSP00000369568:Q98E	Q	+	1	0	OR51B6	5329605	0.993000	0.37304	0.997000	0.53966	0.009000	0.06853	3.078000	0.50096	2.603000	0.88011	0.455000	0.32223	CAG		PASS	0.493	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750		3	122	3	122	---	---	---	---
OR10A4	283297	broad.mit.edu	37	11	6898336	6898336	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:6898336G>A	ENST00000379829.2	+	1	481	c.458G>A	c.(457-459)gGg>gAg	p.G153E		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	153					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G153E(1)		kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGGTTCTCAGGGTTTTCAGTG	0.532																																						uc010rat.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(457-459)GGG>GAG		olfactory receptor, family 10, subfamily A,							64.0	58.0	60.0					11																	6898336		2201	4296	6497	SO:0001583	missense	283297				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6898336G>A	AF209506	CCDS7774.1	11p15.4	2012-08-09	2002-11-13	2004-03-10	ENSG00000170782	ENSG00000170782		"""GPCR / Class A : Olfactory receptors"""	15130	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily A, member 4 pseudogene"""	OR10A4P			Standard	NM_207186		Approved		uc010rat.2	Q9H209	OTTHUMG00000165740	ENST00000379829.2:c.458G>A	11.37:g.6898336G>A	ENSP00000369157:p.Gly153Glu						p.G153E	NM_207186	NP_997069	Q9H209	O10A4_HUMAN		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	458	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	153			Helical; Name=4; (Potential).		B2RNP5|B9EH36|Q96R20	Missense_Mutation	SNP	ENST00000379829.2	37	c.458G>A	CCDS7774.1	.	.	.	.	.	.	.	.	.	.	g	10.60	1.395092	0.25205	.	.	ENSG00000170782	ENST00000379829	T	0.40756	1.02	4.6	4.6	0.57074	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45361	D	0.000376	T	0.76842	0.4044	H	0.98238	4.18	0.09310	N	0.999996	D	0.89917	1.0	D	0.80764	0.994	T	0.75110	-0.3433	10	0.87932	D	0	.	15.3039	0.73976	0.0:0.0:1.0:0.0	.	153	Q9H209	O10A4_HUMAN	E	153	ENSP00000369157:G153E	ENSP00000369157:G153E	G	+	2	0	OR10A4	6854912	0.014000	0.17966	0.971000	0.41717	0.178000	0.23041	1.141000	0.31528	2.539000	0.85634	0.655000	0.94253	GGG		PASS	0.532	OR10A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385985.1	NM_207186		32	52	32	52	---	---	---	---
TPH1	7166	broad.mit.edu	37	11	18051058	18051058	+	Splice_Site	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:18051058C>T	ENST00000250018.2	-	4	1033		c.e4+1		TPH1_ENST00000341556.2_Splice_Site	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1						aromatic amino acid family metabolic process (GO:0009072)|bone remodeling (GO:0046849)|cellular nitrogen compound metabolic process (GO:0034641)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|mammary gland alveolus development (GO:0060749)|negative regulation of ossification (GO:0030279)|response to immobilization stress (GO:0035902)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)	p.?(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AATATACTTACTGTTTATAGT	0.284																																						uc001mnp.2																			1	Unknown(1)		lung(1)		0						c.e4+1		tryptophan hydroxylase 1	L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)						47.0	51.0	50.0					11																	18051058		2197	4287	6484	SO:0001630	splice_region_variant	7166				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity	g.chr11:18051058C>T	X52836	CCDS7829.1	11p15.3-p14	2012-10-02	2008-07-31	2003-04-04	ENSG00000129167	ENSG00000129167	1.14.16.4		12008	protein-coding gene	gene with protein product	"""tryptophan 5-monooxygenase"""	191060	"""tryptophan hydroxylase (tryptophan 5-monooxygenase)"""	TPRH, TPH		1463016	Standard	NM_004179		Approved		uc001mnp.2	P17752	OTTHUMG00000166421	ENST00000250018.2:c.470+1G>A	11.37:g.18051058C>T						TPH1_uc009yhe.2_Splice_Site	p.H157_splice	NM_004179	NP_004170	P17752	TPH1_HUMAN			4	496	-								D3DQX6|O95188|O95189|Q16736|Q3KPG8	Splice_Site	SNP	ENST00000250018.2	37	c.470_splice	CCDS7829.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403181	0.83230	.	.	ENSG00000129167	ENST00000250018;ENST00000341556	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3528	0.98816	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TPH1	18007634	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.567000	0.82357	2.815000	0.96918	0.650000	0.86243	.		PASS	0.284	TPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389696.1	NM_004179	Intron	33	92	33	92	---	---	---	---
SLC6A5	9152	broad.mit.edu	37	11	20668426	20668426	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:20668426G>T	ENST00000525748.1	+	14	2289	c.2016G>T	c.(2014-2016)caG>caT	p.Q672H	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	672					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)	p.Q672H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TTGGATTCCAGCCTAACATCT	0.438																																						uc001mqd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4						c.(2014-2016)CAG>CAT		solute carrier family 6 (neurotransmitter	Glycine(DB00145)						144.0	129.0	134.0					11																	20668426		2203	4300	6503	SO:0001583	missense	9152				synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr11:20668426G>T	AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.2016G>T	11.37:g.20668426G>T	ENSP00000434364:p.Gln672His					SLC6A5_uc009yic.2_Missense_Mutation_p.Q437H	p.Q672H	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN			14	2289	+			672					O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	c.2016G>T	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	32	5.163707	0.94727	.	.	ENSG00000165970	ENST00000525748	T	0.74632	-0.86	5.86	5.86	0.93980	.	0.157358	0.64402	D	0.000018	T	0.79028	0.4377	L	0.42245	1.32	0.80722	D	1	P	0.49358	0.923	P	0.56343	0.796	T	0.71646	-0.4530	10	0.15952	T	0.53	.	20.1768	0.98178	0.0:0.0:1.0:0.0	.	672	Q9Y345	SC6A5_HUMAN	H	672	ENSP00000434364:Q672H	ENSP00000434364:Q672H	Q	+	3	2	SLC6A5	20625002	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.400000	0.79949	2.766000	0.95052	0.655000	0.94253	CAG		PASS	0.438	SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211		32	60	32	60	---	---	---	---
FIBIN	387758	broad.mit.edu	37	11	27016328	27016328	+	Silent	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:27016328C>A	ENST00000318627.2	+	1	701	c.255C>A	c.(253-255)acC>acA	p.T85T		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	85						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)		p.T85T(1)		breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						AGGAGTTCACCGTGCTGGGCC	0.652																																						uc001mrd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(253-255)ACC>ACA		fin bud initiation factor homolog precursor							32.0	28.0	29.0					11																	27016328		2203	4299	6502	SO:0001819	synonymous_variant	387758					extracellular region|Golgi apparatus		g.chr11:27016328C>A	BC026873	CCDS7861.1	11p14.2	2008-12-03				ENSG00000176971			33747	protein-coding gene	gene with protein product						17196583	Standard	NM_203371		Approved	MGC24932	uc001mrd.3	Q8TAL6		ENST00000318627.2:c.255C>A	11.37:g.27016328C>A							p.T85T	NM_203371	NP_976249	Q8TAL6	FIBIN_HUMAN			1	701	+			85						Silent	SNP	ENST00000318627.2	37	c.255C>A	CCDS7861.1																																																																																				PASS	0.652	FIBIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387945.1	NM_203371		6	19	6	19	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	30946900	30946900	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:30946900C>T	ENST00000597505.1	-	21	2952	c.2953G>A	c.(2953-2955)Ggg>Agg	p.G985R	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.G64R			P59894	DCDC1_HUMAN	doublecortin domain containing 1	220					intracellular signal transduction (GO:0035556)			p.G64R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATTTCCTTCCCCTTTTCATTG	0.353																																						uc001mss.1																			1	Substitution - Missense(1)		lung(1)										Homo sapiens mRNA for KIAA1493 protein, partial cds.							140.0	149.0	146.0					11																	30946900		2201	4299	6500	SO:0001583	missense	0							g.chr11:30946900C>T	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2953G>A	11.37:g.30946900C>T	ENSP00000472625:p.Gly985Arg					uc009yjk.1_Missense_Mutation_p.G433R								1		-								A6PVL6|B7WNX6|Q6ZU04	RNA	SNP	ENST00000597505.1	37	c.56G>A		.	.	.	.	.	.	.	.	.	.	C	19.72	3.880533	0.72294	.	.	ENSG00000170959	ENST00000339794	D	0.96265	-3.96	5.2	4.28	0.50868	Doublecortin domain (3);	0.227351	0.30658	N	0.009154	D	0.97632	0.9224	M	0.81802	2.56	0.28559	N	0.911213	D	0.76494	0.999	D	0.70935	0.971	D	0.94115	0.7374	10	0.87932	D	0	-5.9638	11.2416	0.48972	0.0:0.9129:0.0:0.0871	.	64	Q6ZRR9	DCDC5_HUMAN	R	64	ENSP00000341700:G64R	ENSP00000341700:G64R	G	-	1	0	DCDC5	30903476	0.956000	0.32656	0.999000	0.59377	0.976000	0.68499	2.291000	0.43540	1.329000	0.45376	0.655000	0.94253	GGG		PASS	0.353	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		46	159	46	159	---	---	---	---
API5	8539	broad.mit.edu	37	11	43343602	43343602	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:43343602A>C	ENST00000531273.1	+	5	598	c.459A>C	c.(457-459)aaA>aaC	p.K153N	API5_ENST00000534600.1_Missense_Mutation_p.K153N|API5_ENST00000455725.2_Missense_Mutation_p.K142N|API5_ENST00000420461.2_Missense_Mutation_p.K99N|API5_ENST00000534695.1_Intron|API5_ENST00000378852.3_Missense_Mutation_p.K153N			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	153	ARM-like and Heat-like helical repeats.				apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)	p.K153N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GAGCAATTAAATTCCTTTCTA	0.383																																					Pancreas(1;98 122 5625 20895 49453)	uc010rfh.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(457-459)AAA>AAC		apoptosis inhibitor 5 isoform a							110.0	111.0	110.0					11																	43343602		2203	4300	6503	SO:0001583	missense	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43343602A>C	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.459A>C	11.37:g.43343602A>C	ENSP00000431391:p.Lys153Asn					API5_uc010rfg.1_Missense_Mutation_p.K142N|API5_uc001mxf.2_Missense_Mutation_p.K153N|API5_uc010rfi.1_Missense_Mutation_p.K99N|API5_uc001mxg.2_Missense_Mutation_p.K27N	p.K153N	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN			5	632	+			153					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	ENST00000531273.1	37	c.459A>C	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	A	18.74	3.688680	0.68271	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600;ENST00000526394	T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88	5.69	2.1	0.27182	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.39911	0.1096	L	0.49455	1.56	0.48341	D	0.99963	D;D;D;D;D	0.76494	0.986;0.998;0.999;0.998;0.998	D;D;D;D;D	0.87578	0.922;0.966;0.998;0.943;0.943	T	0.07635	-1.0762	10	0.48119	T	0.1	-20.5711	9.2869	0.37762	0.7256:0.0:0.2744:0.0	.	99;153;142;153;153	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	N	142;153;99;153;153;3	ENSP00000399341:K142N;ENSP00000431391:K153N;ENSP00000402540:K99N;ENSP00000368129:K153N;ENSP00000434462:K153N;ENSP00000436436:K3N	ENSP00000368129:K153N	K	+	3	2	API5	43300178	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.081000	0.41596	0.514000	0.28300	0.529000	0.55759	AAA		PASS	0.383	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		8	165	8	165	---	---	---	---
PSMC3	5702	broad.mit.edu	37	11	47444133	47444133	+	Silent	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:47444133G>A	ENST00000298852.3	-	8	1033	c.876C>T	c.(874-876)ggC>ggT	p.G292G	PSMC3_ENST00000530912.1_Silent_p.G250G|PSMC3_ENST00000602866.1_Silent_p.G276G	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	292					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)|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 RNA biosynthetic process (GO:2001141)|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)	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)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.G292G(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCGCTTGGTGCCGATGGCAT	0.552																																						uc001nfh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(874-876)GGC>GGT		proteasome 26S ATPase subunit 3							114.0	97.0	103.0					11																	47444133		2201	4298	6499	SO:0001819	synonymous_variant	5702				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	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity	g.chr11:47444133G>A	M34079	CCDS7935.1	11p11.2	2010-04-21			ENSG00000165916	ENSG00000165916		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9549	protein-coding gene	gene with protein product		186852				9048938, 9473509	Standard	NM_002804		Approved	TBP1, TBP-1	uc001nfh.2	P17980	OTTHUMG00000167692	ENST00000298852.3:c.876C>T	11.37:g.47444133G>A						PSMC3_uc009ylr.1_Silent_p.G250G	p.G292G	NM_002804	NP_002795	P17980	PRS6A_HUMAN		Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)	8	1070	-			292					B2R8V1|Q3B757|Q3B865|Q53HU5|Q6GPG8|Q6IBS1|Q96HD3	Silent	SNP	ENST00000298852.3	37	c.876C>T	CCDS7935.1																																																																																				PASS	0.552	PSMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395660.2	NM_002804		76	149	76	149	---	---	---	---
PTPRJ	5795	broad.mit.edu	37	11	48166407	48166407	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:48166407A>G	ENST00000418331.2	+	13	3108	c.2756A>G	c.(2755-2757)aAt>aGt	p.N919S		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	919				YNGKLEPLGSYR -> LQWEAGTSGLLP (in Ref. 2; BAA07035). {ECO:0000305}.	contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.N919S(2)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGTTATTACAATGGGAAGCTG	0.458																																						uc001ngp.3																			2	Substitution - Missense(2)		lung(2)	breast(3)|kidney(3)|ovary(1)|skin(1)	8						c.(2755-2757)AAT>AGT		protein tyrosine phosphatase, receptor type, J							198.0	205.0	202.0					11																	48166407		2201	4298	6499	SO:0001583	missense	5795				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	g.chr11:48166407A>G	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.2756A>G	11.37:g.48166407A>G	ENSP00000400010:p.Asn919Ser						p.N919S	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN			13	3111	+			919	YNGKLEPLGSYR -> LQWEAGTSGLLP (in Ref. 2; BAA07035).		Extracellular (Potential).		Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	ENST00000418331.2	37	c.2756A>G	CCDS7945.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.140661	0.77775	.	.	ENSG00000149177	ENST00000418331	T	0.21191	2.02	5.4	5.4	0.78164	Fibronectin, type III (1);	.	.	.	.	T	0.46580	0.1400	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.49351	-0.8949	9	0.72032	D	0.01	.	11.8288	0.52282	1.0:0.0:0.0:0.0	.	919	Q12913	PTPRJ_HUMAN	S	919	ENSP00000400010:N919S	ENSP00000400010:N919S	N	+	2	0	PTPRJ	48122983	0.998000	0.40836	0.993000	0.49108	0.950000	0.60333	5.279000	0.65597	2.038000	0.60285	0.528000	0.53228	AAT		PASS	0.458	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390525.1			74	120	74	120	---	---	---	---
OR5AS1	219447	broad.mit.edu	37	11	55798238	55798238	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:55798238T>A	ENST00000313555.1	+	1	344	c.344T>A	c.(343-345)cTg>cAg	p.L115Q		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L115Q(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TGCCTTATCCTGGCAGCAATG	0.473																																						uc010riw.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(343-345)CTG>CAG		olfactory receptor, family 5, subfamily AS,							115.0	96.0	103.0					11																	55798238		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798238T>A	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.344T>A	11.37:g.55798238T>A	ENSP00000324111:p.Leu115Gln						p.L115Q	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	344	+	Esophageal squamous(21;0.00693)		115			Helical; Name=3; (Potential).		Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.344T>A	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.930076	0.73327	.	.	ENSG00000181785	ENST00000313555	D	0.87334	-2.24	5.46	5.46	0.80206	GPCR, rhodopsin-like superfamily (1);	0.000000	0.26923	U	0.021807	D	0.95373	0.8498	H	0.95294	3.65	0.39856	D	0.973315	D	0.89917	1.0	D	0.87578	0.998	D	0.97146	0.9828	10	0.87932	D	0	.	14.3469	0.66672	0.0:0.0:0.0:1.0	.	115	Q8N127	O5AS1_HUMAN	Q	115	ENSP00000324111:L115Q	ENSP00000324111:L115Q	L	+	2	0	OR5AS1	55554814	0.972000	0.33761	0.995000	0.50966	0.611000	0.37282	5.790000	0.69038	2.067000	0.61834	0.523000	0.50628	CTG		PASS	0.473	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		28	47	28	47	---	---	---	---
PGA5	5222	broad.mit.edu	37	11	61018735	61018735	+	Silent	SNP	C	C	G	rs200292738		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:61018735C>G	ENST00000312403.5	+	9	1334	c.1149C>G	c.(1147-1149)ggC>ggG	p.G383G	PGA5_ENST00000541528.1_Silent_p.G123G|CTD-2331C18.5_ENST00000537594.1_RNA|PGA4_ENST00000422676.2_Silent_p.G383G|PGA5_ENST00000451616.2_Silent_p.G229G	NM_014224.2	NP_055039.1	P0DJD9	PEPA5_HUMAN	pepsinogen 5, group I (pepsinogen A)	383					digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)	p.G383G(2)		large_intestine(1)|skin(1)	2						ACCAGGTCGGCCTGGCCCCTG	0.542																																						uc001nqz.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1147-1149)GGC>GGG		pepsinogen 5, group I precursor							155.0	152.0	153.0					11																	61018735		2202	4299	6501	SO:0001819	synonymous_variant	5222				digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity	g.chr11:61018735C>G	BC029055	CCDS8001.1	11q13	2012-10-02			ENSG00000256713	ENSG00000256713	3.4.23.1		8887	protein-coding gene	gene with protein product		169730					Standard	NM_014224		Approved		uc001nqz.3	P0DJD9	OTTHUMG00000168075	ENST00000312403.5:c.1149C>G	11.37:g.61018735C>G							p.G383G	NM_014224	NP_055039	P00790	PEPA_HUMAN			9	1179	+			383					A8K749|B7ZW62|B7ZW75|P00790|Q7M4R0|Q8N1E3	Silent	SNP	ENST00000312403.5	37	c.1149C>G	CCDS8001.1																																																																																				PASS	0.542	PGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397972.1	NM_014224		58	198	58	198	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62288817	62288817	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:62288817C>A	ENST00000378024.4	-	5	13346	c.13072G>T	c.(13072-13074)Gat>Tat	p.D4358Y	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4358					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.D4358Y(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATACTGACATCAGGGGCATCA	0.493																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(13072-13074)GAT>TAT		AHNAK nucleoprotein isoform 1							132.0	132.0	132.0					11																	62288817		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62288817C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13072G>T	11.37:g.62288817C>A	ENSP00000367263:p.Asp4358Tyr					AHNAK_uc001ntk.1_Intron	p.D4358Y	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	13372	-		Melanoma(852;0.155)	4358					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.13072G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	C	9.719	1.159154	0.21454	.	.	ENSG00000124942	ENST00000378024	T	0.01854	4.6	4.6	4.6	0.57074	.	0.248128	0.39834	N	0.001247	T	0.18130	0.0435	H	0.96943	3.91	0.35434	D	0.794321	D	0.89917	1.0	D	0.91635	0.999	T	0.21621	-1.0240	10	0.62326	D	0.03	.	8.3694	0.32406	0.0:0.8256:0.0:0.1744	.	4358	Q09666	AHNK_HUMAN	Y	4358	ENSP00000367263:D4358Y	ENSP00000367263:D4358Y	D	-	1	0	AHNAK	62045393	0.586000	0.26782	0.949000	0.38748	0.046000	0.14306	1.981000	0.40628	2.393000	0.81446	0.545000	0.68477	GAT		PASS	0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		5	205	5	205	---	---	---	---
ARAP1	116985	broad.mit.edu	37	11	72412727	72412727	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:72412727C>A	ENST00000393609.3	-	16	2471	c.2269G>T	c.(2269-2271)Ggc>Tgc	p.G757C	ARAP1_ENST00000393605.3_Missense_Mutation_p.G517C|ARAP1_ENST00000426523.1_Missense_Mutation_p.G512C|ARAP1_ENST00000455638.2_Missense_Mutation_p.G757C|ARAP1_ENST00000334211.8_Missense_Mutation_p.G512C|ARAP1_ENST00000495878.1_5'Flank|ARAP1_ENST00000359373.5_Missense_Mutation_p.G757C|ARAP1_ENST00000429686.1_Missense_Mutation_p.G451C|ARAP1-AS2_ENST00000500163.2_RNA	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	757	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.G517C(1)|p.G757C(1)		cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGCAGCTTGCCGGCAGAGGCA	0.637																																					Ovarian(102;1198 1520 13195 17913 37529)	uc001osu.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(2269-2271)GGC>TGC		ArfGAP with RhoGAP domain, ankyrin repeat and PH							132.0	142.0	138.0					11																	72412727		2200	4293	6493	SO:0001583	missense	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72412727C>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.2269G>T	11.37:g.72412727C>A	ENSP00000377233:p.Gly757Cys					ARAP1_uc001osv.2_Missense_Mutation_p.G757C|ARAP1_uc001osr.2_Missense_Mutation_p.G517C|ARAP1_uc001oss.2_Missense_Mutation_p.G512C|ARAP1_uc009yth.2_Missense_Mutation_p.G451C|ARAP1_uc010rre.1_Missense_Mutation_p.G512C|ARAP1_uc001osw.1_Missense_Mutation_p.G45C	p.G757C	NM_001040118	NP_001035207	Q96P48	ARAP1_HUMAN			16	2458	-			757			PH 3.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Missense_Mutation	SNP	ENST00000393609.3	37	c.2269G>T	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	C	13.32	2.200715	0.38905	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000427971;ENST00000452383;ENST00000340247	D;D;D;D;D;D;D;T;T	0.89123	-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;-2.47;2.44;2.44	5.37	2.51	0.30379	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.493183	0.21526	N	0.073124	D	0.88332	0.6408	L	0.27053	0.805	0.09310	N	0.99999	P;D;P;P;P	0.89917	0.86;1.0;0.937;0.86;0.831	P;D;P;P;P	0.69479	0.801;0.964;0.735;0.801;0.7	T	0.79298	-0.1861	10	0.54805	T	0.06	.	8.1976	0.31407	0.0:0.6852:0.0:0.3148	.	512;451;757;757;517	E7EU13;B2RTS2;Q96P48-3;Q96P48;Q96P48-1	.;.;.;ARAP1_HUMAN;.	C	757;757;517;512;757;512;451;45;45;546	ENSP00000352332:G757C;ENSP00000390461:G757C;ENSP00000377230:G517C;ENSP00000335506:G512C;ENSP00000377233:G757C;ENSP00000392264:G512C;ENSP00000403127:G451C;ENSP00000411452:G45C;ENSP00000399118:G45C	ENSP00000335506:G512C	G	-	1	0	ARAP1	72090375	0.317000	0.24589	0.049000	0.19019	0.255000	0.26057	1.261000	0.32980	0.262000	0.21774	-0.232000	0.12228	GGC		PASS	0.637	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		68	104	68	104	---	---	---	---
SYTL2	54843	broad.mit.edu	37	11	85431949	85431949	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:85431949T>C	ENST00000528231.1	-	8	1790	c.1513A>G	c.(1513-1515)Agg>Ggg	p.R505G	SYTL2_ENST00000525423.1_Missense_Mutation_p.R827G|SYTL2_ENST00000533892.1_5'Flank|SYTL2_ENST00000354566.3_Missense_Mutation_p.R827G|SYTL2_ENST00000389958.3_5'Flank|SYTL2_ENST00000528566.1_5'Flank|SYTL2_ENST00000389960.4_Missense_Mutation_p.R505G|SYTL2_ENST00000316356.4_Missense_Mutation_p.R506G|SYTL2_ENST00000527523.1_Missense_Mutation_p.R457G|SYTL2_ENST00000524452.1_Missense_Mutation_p.R505G|SYTL2_ENST00000359152.5_Missense_Mutation_p.R1351G|SYTL2_ENST00000529581.1_5'Flank	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	505					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.R506G(1)|p.R827G(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GGCATTTTCCTAGCGGCACTC	0.378																																						uc010rth.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(1513-1515)AGG>GGG		synaptotagmin-like 2 isoform g							98.0	98.0	98.0					11																	85431949		2203	4299	6502	SO:0001583	missense	54843				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding	g.chr11:85431949T>C	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1513A>G	11.37:g.85431949T>C	ENSP00000431701:p.Arg505Gly					SYTL2_uc010rtg.1_Missense_Mutation_p.R506G|SYTL2_uc010rti.1_Missense_Mutation_p.R505G|SYTL2_uc010rtj.1_Missense_Mutation_p.R457G|SYTL2_uc010rte.1_5'Flank|SYTL2_uc001pax.2_5'Flank|SYTL2_uc001paz.2_5'Flank|SYTL2_uc001pba.2_5'Flank|SYTL2_uc001pay.2_5'Flank|SYTL2_uc001paw.2_5'Flank|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Missense_Mutation_p.R827G|SYTL2_uc001pbb.2_Missense_Mutation_p.R827G|SYTL2_uc001pbc.2_Missense_Mutation_p.R827G|SYTL2_uc010rtf.1_Missense_Mutation_p.R363G	p.R505G	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)	8	1789	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	505					B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	c.1513A>G	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.208011	0.79240	.	.	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525423;ENST00000530351;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T;T;T;T;T	0.50813	1.28;1.2;1.25;1.49;1.2;0.73;1.48;1.09;1.28	5.81	5.81	0.92471	.	0.096146	0.64402	D	0.000002	T	0.66025	0.2748	M	0.64997	1.995	0.45554	D	0.998501	D;D;B;D;P;D;D;D	0.89917	0.983;0.986;0.193;0.992;0.532;1.0;1.0;1.0	P;P;B;P;B;D;D;D	0.79108	0.813;0.894;0.059;0.894;0.263;0.992;0.992;0.992	T	0.65557	-0.6139	9	.	.	.	-19.7937	15.8405	0.78842	0.0:0.0:0.0:1.0	.	457;505;505;506;363;827;827;827	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15;Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;SYTL2_HUMAN;.;.;.;.;.	G	505;1351;827;506;827;246;505;457;505	ENSP00000374610:R505G;ENSP00000352065:R1351G;ENSP00000346576:R827G;ENSP00000318803:R506G;ENSP00000432694:R827G;ENSP00000435009:R246G;ENSP00000431701:R505G;ENSP00000434010:R457G;ENSP00000435238:R505G	.	R	-	1	2	SYTL2	85109597	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.833000	0.69349	2.224000	0.72417	0.528000	0.53228	AGG		PASS	0.378	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927		30	63	30	63	---	---	---	---
CCDC83	220047	broad.mit.edu	37	11	85584264	85584264	+	Nonsense_Mutation	SNP	A	A	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:85584264A>T	ENST00000342404.3	+	3	322	c.106A>T	c.(106-108)Aag>Tag	p.K36*	CCDC83_ENST00000280245.4_Nonsense_Mutation_p.K36*|CCDC83_ENST00000529676.2_3'UTR|CCDC83_ENST00000376067.1_De_novo_Start_InFrame			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	36								p.K36*(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ATGTCAAATAAAGGAAGATGC	0.264																																						uc001pbh.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(106-108)AAG>TAG		coiled-coil domain containing 83							43.0	45.0	44.0					11																	85584264		2201	4276	6477	SO:0001587	stop_gained	220047							g.chr11:85584264A>T	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	ENST00000342404.3:c.106A>T	11.37:g.85584264A>T	ENSP00000344512:p.Lys36*					CCDC83_uc001pbg.1_Nonsense_Mutation_p.K36*|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_5'UTR	p.K36*	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN			3	618	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	36					B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Nonsense_Mutation	SNP	ENST00000342404.3	37	c.106A>T		.	.	.	.	.	.	.	.	.	.	A	41	8.625409	0.98890	.	.	ENSG00000150676	ENST00000280245;ENST00000342404	.	.	.	5.42	5.42	0.78866	.	0.070048	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-23.197	12.9723	0.58520	1.0:0.0:0.0:0.0	.	.	.	.	X	36	.	.	K	+	1	0	CCDC83	85261912	1.000000	0.71417	1.000000	0.80357	0.395000	0.30598	5.417000	0.66423	2.046000	0.60703	0.533000	0.62120	AAG		PASS	0.264	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	NM_173556		8	49	8	49	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88300351	88300351	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:88300351G>A	ENST00000305447.4	-	7	2649	c.2500C>T	c.(2500-2502)Cgc>Tgc	p.R834C	GRM5_ENST00000305432.5_Missense_Mutation_p.R834C|GRM5_ENST00000455756.2_Missense_Mutation_p.R834C|GRM5_ENST00000393297.1_Missense_Mutation_p.R834C|GRM5_ENST00000418177.2_Missense_Mutation_p.R834C	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	834					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R834C(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	AAGGCGCTGCGCACGTTTCTC	0.572																																						uc001pcq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(2500-2502)CGC>TGC		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						138.0	107.0	118.0					11																	88300351		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88300351G>A	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2500C>T	11.37:g.88300351G>A	ENSP00000306138:p.Arg834Cys					GRM5_uc009yvm.2_Missense_Mutation_p.R834C	p.R834C	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			7	2700	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	834			Cytoplasmic (Potential).		Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.2500C>T	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799251	0.70567	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.89875	-2.55;-2.56;-2.56;-2.55;-2.58	5.58	4.58	0.56647	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.93446	0.7909	M	0.67397	2.05	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	D	0.92864	0.6308	9	.	.	.	.	17.1533	0.86783	0.0:0.0:0.8651:0.1349	.	834;834	P41594-2;P41594	.;GRM5_HUMAN	C	834	ENSP00000402912:R834C;ENSP00000405690:R834C;ENSP00000305905:R834C;ENSP00000306138:R834C;ENSP00000376975:R834C	.	R	-	1	0	GRM5	87939999	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.528000	0.73807	2.640000	0.89533	0.561000	0.74099	CGC		PASS	0.572	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		5	120	5	120	---	---	---	---
MED17	9440	broad.mit.edu	37	11	93523815	93523815	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:93523815G>A	ENST00000251871.3	+	3	780	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	165					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.E165K(1)		large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GAAGGGGGCAGAAAGACTGAC	0.398																																						uc001pem.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(493-495)GAA>AAA		mediator complex subunit 17							106.0	112.0	110.0					11																	93523815		2201	4298	6499	SO:0001583	missense	9440				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr11:93523815G>A	AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.493G>A	11.37:g.93523815G>A	ENSP00000251871:p.Glu165Lys						p.E165K	NM_004268	NP_004259	Q9NVC6	MED17_HUMAN			3	768	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	165					B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Missense_Mutation	SNP	ENST00000251871.3	37	c.493G>A	CCDS8295.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.392510	0.83011	.	.	ENSG00000042429	ENST00000251871;ENST00000427225;ENST00000533359;ENST00000528786	T;T;T	0.54866	0.55;0.55;0.55	5.78	5.78	0.91487	.	0.089037	0.85682	D	0.000000	T	0.52451	0.1735	L	0.50333	1.59	0.80722	D	1	B	0.26081	0.141	B	0.31016	0.123	T	0.42949	-0.9421	10	0.24483	T	0.36	-25.6751	20.0118	0.97458	0.0:0.0:1.0:0.0	.	165	Q9NVC6	MED17_HUMAN	K	165;135;193;57	ENSP00000251871:E165K;ENSP00000431524:E193K;ENSP00000433626:E57K	ENSP00000251871:E165K	E	+	1	0	MED17	93163463	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.601000	0.98297	2.742000	0.94016	0.650000	0.86243	GAA		PASS	0.398	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394800.2	NM_004268		46	129	46	129	---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101833133	101833133	+	Missense_Mutation	SNP	G	G	C	rs149377851		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:101833133G>C	ENST00000263468.8	+	6	1637	c.1367G>C	c.(1366-1368)tGt>tCt	p.C456S	KIAA1377_ENST00000537689.1_Missense_Mutation_p.C257S	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	456								p.C456S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCTACTTCATGTGTACCAGTG	0.378																																						uc001pgm.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(1366-1368)TGT>TCT		hypothetical protein LOC57562							62.0	65.0	64.0					11																	101833133		2203	4298	6501	SO:0001583	missense	57562						protein binding	g.chr11:101833133G>C	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.1367G>C	11.37:g.101833133G>C	ENSP00000263468:p.Cys456Ser					KIAA1377_uc001pgn.2_Missense_Mutation_p.C412S|KIAA1377_uc010run.1_Missense_Mutation_p.C257S|KIAA1377_uc009yxa.1_Missense_Mutation_p.C257S	p.C456S	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	1637	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	456					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.1367G>C	CCDS31658.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.320566	0.00018	.	.	ENSG00000110318	ENST00000263468;ENST00000537689	T;T	0.05649	3.41;3.41	4.63	-4.59	0.03400	.	1.183020	0.06019	N	0.651018	T	0.01592	0.0051	N	0.02142	-0.665	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42015	-0.9476	10	0.02654	T	1	-0.0014	1.9071	0.03279	0.1867:0.2959:0.3313:0.1862	.	456	Q9P2H0	K1377_HUMAN	S	456;257	ENSP00000263468:C456S;ENSP00000443184:C257S	ENSP00000263468:C456S	C	+	2	0	KIAA1377	101338343	0.009000	0.17119	0.032000	0.17829	0.008000	0.06430	-0.571000	0.05889	-0.650000	0.05423	0.655000	0.94253	TGT		PASS	0.378	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		8	97	8	97	---	---	---	---
MSANTD4	84437	broad.mit.edu	37	11	105880331	105880331	+	Silent	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:105880331C>T	ENST00000301919.4	-	3	2384	c.969G>A	c.(967-969)caG>caA	p.Q323Q	MSANTD4_ENST00000529805.1_5'UTR	NM_032424.1	NP_115800.1	Q8NCY6	MSD4_HUMAN	Myb/SANT-like DNA-binding domain containing 4 with coiled-coils	323						nucleus (GO:0005634)		p.Q323Q(1)									CCTTTTCAATCTGCAGCTTCT	0.408																																						uc001piy.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(967-969)CAG>CAA		hypothetical protein LOC84437							119.0	113.0	115.0					11																	105880331		2201	4298	6499	SO:0001819	synonymous_variant	84437					nucleus		g.chr11:105880331C>T	AB058729	CCDS31663.1	11q22	2012-03-13	2012-03-13	2012-03-13	ENSG00000170903	ENSG00000170903			29383	protein-coding gene	gene with protein product			"""KIAA1826"""	KIAA1826			Standard	XM_005271697		Approved		uc001piz.3	Q8NCY6	OTTHUMG00000166240	ENST00000301919.4:c.969G>A	11.37:g.105880331C>T						KIAA1826_uc001piz.2_Silent_p.Q323Q	p.Q323Q	NM_032424	NP_115800	Q8NCY6	K1826_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309)	3	1142	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	323			Potential.		Q96JK1|Q96JZ3|Q9H2N4	Silent	SNP	ENST00000301919.4	37	c.969G>A	CCDS31663.1																																																																																				PASS	0.408	MSANTD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388619.1	NM_032424		7	183	7	183	---	---	---	---
DDX6	1656	broad.mit.edu	37	11	118638961	118638961	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:118638961G>A	ENST00000526070.2	-	5	829	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	DDX6_ENST00000534980.1_Missense_Mutation_p.R157W|DDX6_ENST00000264018.4_Missense_Mutation_p.R157W	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	157	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.R146W(1)|p.R157W(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		AGGTCTAGCCGTTCAAGTAAG	0.413			T	IGH@	B-NHL																																	uc001pub.2				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(469-471)CGG>TGG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 6							101.0	92.0	95.0					11																	118638961		1862	4096	5958	SO:0001583	missense	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118638961G>A	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.469C>T	11.37:g.118638961G>A	ENSP00000433704:p.Arg157Trp					DDX6_uc001puc.2_Missense_Mutation_p.R157W	p.R157W	NM_004397	NP_004388	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	5	830	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)	157			Helicase ATP-binding.		Q5D048	Missense_Mutation	SNP	ENST00000526070.2	37	c.469C>T	CCDS44751.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.866223	0.91511	.	.	ENSG00000110367	ENST00000264018;ENST00000545741;ENST00000534980;ENST00000526070	T;T;T	0.15952	2.38;2.38;2.38	5.63	4.71	0.59529	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44664	0.1304	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	T	0.52426	-0.8577	10	0.87932	D	0	.	16.1366	0.81491	0.0:0.0:0.8657:0.1343	.	157	P26196	DDX6_HUMAN	W	157	ENSP00000264018:R157W;ENSP00000442266:R157W;ENSP00000433704:R157W	ENSP00000264018:R157W	R	-	1	2	DDX6	118144171	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.700000	0.68318	1.502000	0.48669	0.655000	0.94253	CGG		PASS	0.413	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397		16	30	16	30	---	---	---	---
Unknown	0	broad.mit.edu	37	11	124096262	124096262	+	IGR	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:124096262G>T								OR10D3 (39310 upstream) : OR8G1 (24160 downstream)																							AGTGTCCTCTGTGTTTTATAC	0.458																																						uc010saf.1																			0					0						c.(865-867)GTG>TTG		olfactory receptor, family 8, subfamily G,							75.0	71.0	72.0					11																	124096262		1946	4163	6109	SO:0001628	intergenic_variant	26492					integral to membrane	olfactory receptor activity	g.chr11:124096262G>T																													11.37:g.124096262G>T							p.V289L	NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)	1	865	+		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	289						Missense_Mutation	SNP		37	c.865G>T																																																																																				0	PASS	0.458									6	70	6	70	---	---	---	---
OR8B2	26595	broad.mit.edu	37	11	124252781	124252781	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr11:124252781C>A	ENST00000375013.2	-	1	477	c.459G>T	c.(457-459)ttG>ttT	p.L153F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L153F(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TGGCTCCAGCCAATCCCATTA	0.493																																						uc010sai.1																			1	Substitution - Missense(1)		lung(1)		0						c.(457-459)TTG>TTT		olfactory receptor, family 8, subfamily B,							19.0	20.0	19.0					11																	124252781		2197	4277	6474	SO:0001583	missense	26595				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124252781C>A	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.459G>T	11.37:g.124252781C>A	ENSP00000364152:p.Leu153Phe						p.L153F	NM_001005468	NP_001005468	Q96RD0	OR8B2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	459	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	153			Helical; Name=4; (Potential).		Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	37	c.459G>T	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	c	0.238	-1.015987	0.02078	.	.	ENSG00000204293	ENST00000375013	T	0.00158	8.65	3.87	-1.67	0.08238	GPCR, rhodopsin-like superfamily (1);	0.675820	0.14326	N	0.326697	T	0.00039	0.0001	N	0.02357	-0.585	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38607	-0.9653	10	0.02654	T	1	.	1.3187	0.02112	0.5309:0.1517:0.1757:0.1417	.	153	Q96RD0	OR8B2_HUMAN	F	153	ENSP00000364152:L153F	ENSP00000364152:L153F	L	-	3	2	OR8B2	123757991	0.000000	0.05858	0.001000	0.08648	0.399000	0.30720	0.637000	0.24659	-0.413000	0.07507	-0.755000	0.03482	TTG		PASS	0.493	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468		8	9	8	9	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2721173	2721173	+	Silent	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:2721173A>G	ENST00000347598.4	+	30	3882	c.3882A>G	c.(3880-3882)aaA>aaG	p.K1294K	CACNA1C_ENST00000399606.1_Silent_p.K1294K|CACNA1C_ENST00000399595.1_Silent_p.K1274K|CACNA1C_ENST00000399617.1_Silent_p.K1274K|CACNA1C_ENST00000399649.1_Silent_p.K1274K|CACNA1C_ENST00000399644.1_Silent_p.K1274K|CACNA1C_ENST00000399637.1_Silent_p.K1274K|CACNA1C_ENST00000335762.5_Silent_p.K1299K|CACNA1C_ENST00000344100.3_Silent_p.K1274K|CACNA1C_ENST00000399655.1_Silent_p.K1274K|CACNA1C_ENST00000399629.1_Silent_p.K1274K|CACNA1C_ENST00000399638.1_Silent_p.K1274K|CACNA1C_ENST00000406454.3_Silent_p.K1274K|CACNA1C_ENST00000480911.1_Silent_p.K1274K|CACNA1C_ENST00000399601.1_Silent_p.K1274K|CACNA1C_ENST00000399621.1_Silent_p.K1274K|CACNA1C_ENST00000399641.1_Silent_p.K1274K|CACNA1C_ENST00000399634.1_Silent_p.K1274K|CACNA1C_ENST00000399591.1_Silent_p.K1274K|CACNA1C_ENST00000402845.3_Silent_p.K1274K|CACNA1C_ENST00000327702.7_Silent_p.K1274K|CACNA1C_ENST00000399597.1_Silent_p.K1274K|CACNA1C_ENST00000399603.1_Silent_p.K1274K	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1294					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.K1274K(2)|p.K809K(1)|p.K1324K(1)|p.K1294K(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGCCTTCAAACCCAAGGTAG	0.537																																						uc009zdu.1																			5	Substitution - coding silent(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(3880-3882)AAA>AAG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						106.0	101.0	103.0					12																	2721173		2149	4281	6430	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2721173A>G	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.3882A>G	12.37:g.2721173A>G						CACNA1C_uc009zdv.1_Silent_p.K1271K|CACNA1C_uc001qkb.2_Silent_p.K1274K|CACNA1C_uc001qkc.2_Silent_p.K1274K|CACNA1C_uc001qke.2_Silent_p.K1274K|CACNA1C_uc001qkf.2_Silent_p.K1274K|CACNA1C_uc001qjz.2_Silent_p.K1274K|CACNA1C_uc001qkd.2_Silent_p.K1274K|CACNA1C_uc001qkg.2_Silent_p.K1274K|CACNA1C_uc009zdw.1_Silent_p.K1274K|CACNA1C_uc001qkh.2_Silent_p.K1274K|CACNA1C_uc001qkl.2_Silent_p.K1294K|CACNA1C_uc001qkn.2_Silent_p.K1274K|CACNA1C_uc001qko.2_Silent_p.K1294K|CACNA1C_uc001qkp.2_Silent_p.K1274K|CACNA1C_uc001qkr.2_Silent_p.K1274K|CACNA1C_uc001qku.2_Silent_p.K1274K|CACNA1C_uc001qkq.2_Silent_p.K1274K|CACNA1C_uc001qks.2_Silent_p.K1274K|CACNA1C_uc001qkt.2_Silent_p.K1274K|CACNA1C_uc001qka.1_Silent_p.K809K|CACNA1C_uc001qki.1_Silent_p.K1010K|CACNA1C_uc001qkj.1_Silent_p.K1010K|CACNA1C_uc001qkk.1_Silent_p.K1010K|CACNA1C_uc001qkm.1_Silent_p.K1010K	p.K1294K	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	30	4195	+			1294			Cytoplasmic (Potential).|IV.		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.3882A>G	CCDS44788.1																																																																																				PASS	0.537	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		11	39	11	39	---	---	---	---
CLEC4C	170482	broad.mit.edu	37	12	7894112	7894112	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:7894112A>G	ENST00000542353.1	-	4	630	c.140T>C	c.(139-141)aTg>aCg	p.M47T	CLEC4C_ENST00000360345.3_Missense_Mutation_p.M47T|CLEC4C_ENST00000540085.1_Missense_Mutation_p.M16T|CLEC4C_ENST00000354629.5_Missense_Mutation_p.M16T	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	47					innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.M47T(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TTTGCTATACATAAAATTGTG	0.413																																						uc001qtg.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(139-141)ATG>ACG		C-type lectin domain family 4, member C isoform							144.0	125.0	131.0					12																	7894112		2203	4300	6503	SO:0001583	missense	170482				innate immune response	integral to membrane	sugar binding	g.chr12:7894112A>G	AF325460	CCDS8583.1, CCDS8584.1	12p13.2-p12.3	2008-02-05	2004-02-13	2005-02-11	ENSG00000198178	ENSG00000198178		"""C-type lectin domain containing"", ""CD molecules"""	13258	protein-coding gene	gene with protein product		606677	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 7"""	CLECSF11, CLECSF7		11031109, 11536172	Standard	NM_130441		Approved	HECL, DLEC, BDCA2, CD303	uc001qth.1	Q8WTT0	OTTHUMG00000168441	ENST00000542353.1:c.140T>C	12.37:g.7894112A>G	ENSP00000440428:p.Met47Thr					CLEC4C_uc001qth.1_Missense_Mutation_p.M47T|CLEC4C_uc001qti.1_Missense_Mutation_p.M16T	p.M47T	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN		Kidney(36;0.0915)	3	314	-			47			Extracellular (Potential).		D3DUU3|Q3T1C3|Q6UXS8|Q8WXX8	Missense_Mutation	SNP	ENST00000542353.1	37	c.140T>C	CCDS8583.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.687033	0.00100	.	.	ENSG00000198178	ENST00000542353;ENST00000354629;ENST00000540085;ENST00000360345	T;T;T;T	0.02103	4.51;4.45;4.45;4.51	1.37	-1.17	0.09648	.	.	.	.	.	T	0.00906	0.0030	N	0.02736	-0.51	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.48091	-0.9065	9	0.09843	T	0.71	.	4.2422	0.10654	0.5391:0.0:0.4609:0.0	.	16;47	Q8WTT0-2;Q8WTT0	.;CLC4C_HUMAN	T	47;16;16;47	ENSP00000440428:M47T;ENSP00000346648:M16T;ENSP00000445338:M16T;ENSP00000353500:M47T	ENSP00000346648:M16T	M	-	2	0	CLEC4C	7785379	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.420000	0.07062	-0.374000	0.07967	-0.467000	0.05162	ATG		PASS	0.413	CLEC4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399750.1	NM_203503		5	105	5	105	---	---	---	---
PRR4	11272	broad.mit.edu	37	12	11000994	11000994	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:11000994T>C	ENST00000228811.4	-	2	114	c.77A>G	c.(76-78)gAa>gGa	p.E26G	PRR4_ENST00000540107.1_Missense_Mutation_p.E26G|PRR4_ENST00000544994.1_Missense_Mutation_p.E26G|PRR4_ENST00000536668.1_5'UTR	NM_007244.2	NP_009175.2	Q16378	PROL4_HUMAN	proline rich 4 (lacrimal)	26					retina homeostasis (GO:0001895)|visual perception (GO:0007601)	extracellular space (GO:0005615)		p.E26G(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	9						AGTAAAGTCTTCATAGTTCAC	0.383																																						uc001qyz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(76-78)GAA>GGA		proline rich 4 (lacrimal) isoform 2							102.0	100.0	100.0					12																	11000994		1884	4112	5996	SO:0001583	missense	11272				visual perception	extracellular space		g.chr12:11000994T>C		CCDS41756.1, CCDS55804.1	12p13	2008-02-05		2004-05-28		ENSG00000111215			18020	protein-coding gene	gene with protein product		605359		PROL4		7544782	Standard	NM_007244		Approved	LPRP	uc001qyz.4	Q16378		ENST00000228811.4:c.77A>G	12.37:g.11000994T>C	ENSP00000228811:p.Glu26Gly					PRR4_uc009zhp.2_Missense_Mutation_p.E39G|PRH1_uc001qzb.3_RNA|PRR4_uc001qza.3_RNA|PRR4_uc009zhq.1_RNA	p.E26G	NM_007244	NP_009175	Q16378	PROL4_HUMAN			2	116	-			26					A8KA69|F5H0D7|Q8NFB3	Missense_Mutation	SNP	ENST00000228811.4	37	c.77A>G	CCDS41756.1	.	.	.	.	.	.	.	.	.	.	T	7.661	0.684936	0.14973	.	.	ENSG00000111215	ENST00000544994;ENST00000228811;ENST00000540107;ENST00000431566	T;T;T	0.06528	3.29;3.29;3.29	2.3	1.15	0.20763	.	.	.	.	.	T	0.09642	0.0237	M	0.70595	2.14	0.09310	N	1	B	0.30068	0.267	B	0.36378	0.223	T	0.32428	-0.9907	9	0.87932	D	0	.	3.9262	0.09265	0.0:0.1838:0.0:0.8162	.	26	Q16378	PROL4_HUMAN	G	26	ENSP00000438046:E26G;ENSP00000228811:E26G;ENSP00000443939:E26G	ENSP00000228811:E26G	E	-	2	0	PRR4	10892261	0.015000	0.18098	0.003000	0.11579	0.009000	0.06853	0.028000	0.13644	0.308000	0.22923	0.443000	0.29094	GAA		PASS	0.383	PRR4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400049.1	NM_007244		8	72	8	72	---	---	---	---
LRP6	4040	broad.mit.edu	37	12	12303938	12303938	+	Silent	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:12303938A>G	ENST00000261349.4	-	13	2902	c.2826T>C	c.(2824-2826)agT>agC	p.S942S	LRP6_ENST00000543091.1_Silent_p.S942S	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	942	Beta-propeller 4.				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.S942S(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)				GGTTGATGGCACTCTTTTGAC	0.458																																						uc001rah.3																			1	Substitution - coding silent(1)		lung(1)	lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(2824-2826)AGT>AGC		low density lipoprotein receptor-related protein							97.0	87.0	91.0					12																	12303938		2203	4300	6503	SO:0001819	synonymous_variant	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.chr12:12303938A>G	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.2826T>C	12.37:g.12303938A>G						BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.S942S	p.S942S	NM_002336	NP_002327	O75581	LRP6_HUMAN			13	2968	-		Prostate(47;0.0865)	942			Extracellular (Potential).|Beta-propeller 4.		Q17RZ2	Silent	SNP	ENST00000261349.4	37	c.2826T>C	CCDS8647.1																																																																																				PASS	0.458	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			5	82	5	82	---	---	---	---
IPO8	10526	broad.mit.edu	37	12	30805224	30805224	+	Splice_Site	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:30805224C>T	ENST00000256079.4	-	19	2413		c.e19-1		IPO8_ENST00000544829.1_Splice_Site	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8						intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGCATCATGTCTGAAAAAAAA	0.323																																						uc001rjd.2																			1	Unknown(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.e19-1		importin 8							83.0	87.0	85.0					12																	30805224		2203	4297	6500	SO:0001630	splice_region_variant	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30805224C>T	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2075-1G>A	12.37:g.30805224C>T						IPO8_uc001rje.1_Splice_Site_p.D181_splice|IPO8_uc010sjt.1_Splice_Site_p.D487_splice	p.D692_splice	NM_006390	NP_006381	O15397	IPO8_HUMAN			19	2245	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)							B7Z7M3	Splice_Site	SNP	ENST00000256079.4	37	c.2075_splice	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.358587	0.82243	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9931	0.89175	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	IPO8	30696491	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.532000	0.81985	2.311000	0.77944	0.655000	0.94253	.		PASS	0.323	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390	Intron	5	78	5	78	---	---	---	---
PKP2	5318	broad.mit.edu	37	12	32996237	32996237	+	Silent	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:32996237G>T	ENST00000070846.6	-	6	1413	c.1389C>A	c.(1387-1389)gtC>gtA	p.V463V	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	463					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)	p.V463V(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TTCTTAAATTGACTGTATGGT	0.537																																						uc001rlj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1387-1389)GTC>GTA		plakophilin 2 isoform 2b							92.0	90.0	91.0					12																	32996237		2203	4300	6503	SO:0001819	synonymous_variant	5318				cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	g.chr12:32996237G>T	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.1389C>A	12.37:g.32996237G>T						PKP2_uc001rlk.3_Intron|PKP2_uc010skj.1_Intron	p.V463V	NM_004572	NP_004563	Q99959	PKP2_HUMAN			6	1504	-	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		463			ARM 3.		A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Silent	SNP	ENST00000070846.6	37	c.1389C>A	CCDS8731.1																																																																																				PASS	0.537	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572		5	95	5	95	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40707775	40707775	+	Splice_Site	SNP	T	T	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:40707775T>C	ENST00000298910.7	+	32	4596	c.4538T>C	c.(4537-4539)aTc>aCc	p.I1513T	LRRK2_ENST00000481256.1_3'UTR	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1513					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.I1513T(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATTTCATAGATCCGAGATCAG	0.343																																						uc001rmg.3																			2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(4537-4539)ATC>ACC		leucine-rich repeat kinase 2							44.0	45.0	44.0					12																	40707775		2203	4298	6501	SO:0001630	splice_region_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40707775T>C	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4537-1T>C	12.37:g.40707775T>C						LRRK2_uc009zjw.2_Missense_Mutation_p.I351T|LRRK2_uc001rmi.2_Missense_Mutation_p.I346T	p.I1513T	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			32	4659	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1513					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.4538T>C	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.325458	0.81580	.	.	ENSG00000188906	ENST00000298910	T	0.73575	-0.76	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.82250	0.4996	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71184	0.961;0.972	T	0.80504	-0.1353	10	0.33940	T	0.23	.	16.371	0.83361	0.0:0.0:0.0:1.0	.	1513;1513	Q17RV3;Q5S007	.;LRRK2_HUMAN	T	1513	ENSP00000298910:I1513T	ENSP00000298910:I1513T	I	+	2	0	LRRK2	38994042	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.309000	0.78937	2.267000	0.75376	0.477000	0.44152	ATC		PASS	0.343	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	Missense_Mutation	4	35	4	35	---	---	---	---
YAF2	10138	broad.mit.edu	37	12	42554536	42554536	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:42554536T>A	ENST00000534854.2	-	4	465	c.398A>T	c.(397-399)aAa>aTa	p.K133I	YAF2_ENST00000380790.4_Missense_Mutation_p.K91I|YAF2_ENST00000380788.3_Missense_Mutation_p.K124I|YAF2_ENST00000442791.3_Missense_Mutation_p.K157I|YAF2_ENST00000327791.4_Missense_Mutation_p.K109I	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	133					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.K133I(1)		cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		TGACTTTGTTTTCTCCTTAAA	0.438																																						uc001rmv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(397-399)AAA>ATA		YY1 associated factor 2							72.0	62.0	65.0					12																	42554536		2203	4300	6503	SO:0001583	missense	10138				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:42554536T>A	U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.398A>T	12.37:g.42554536T>A	ENSP00000439256:p.Lys133Ile					YAF2_uc001rmw.2_Missense_Mutation_p.K157I|YAF2_uc010sko.1_Missense_Mutation_p.K124I|YAF2_uc010skp.1_Missense_Mutation_p.K91I	p.K133I	NM_005748	NP_005739	Q8IY57	YAF2_HUMAN		GBM - Glioblastoma multiforme(48;0.0514)	4	466	-	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)	133					A8K5P0|B4DFU3|G3V465|Q99710	Missense_Mutation	SNP	ENST00000534854.2	37	c.398A>T	CCDS31775.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.951374	0.73787	.	.	ENSG00000015153	ENST00000327791;ENST00000442791;ENST00000534854;ENST00000380790;ENST00000380788	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.79299	0.4422	M	0.74467	2.265	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.998	D;D;D;D	0.85130	0.996;0.994;0.997;0.991	T	0.81890	-0.0725	9	0.87932	D	0	.	15.9893	0.80188	0.0:0.0:0.0:1.0	.	91;124;109;133	B4DFU3;A6NL56;Q8IY57-2;Q8IY57	.;.;.;YAF2_HUMAN	I	109;157;133;91;124	.	ENSP00000328004:K109I	K	-	2	0	YAF2	40840803	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.649000	0.83500	2.180000	0.69256	0.533000	0.62120	AAA		PASS	0.438	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403781.1			30	34	30	34	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46233248	46233248	+	Silent	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:46233248C>T	ENST00000334344.6	+	11	1639	c.1467C>T	c.(1465-1467)gtC>gtT	p.V489V	ARID2_ENST00000444670.1_Silent_p.V99V|ARID2_ENST00000422737.1_Silent_p.V340V|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	489					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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.V489V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TAGAGCAAGTCCAAACCCAGA	0.403			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(1465-1467)GTC>GTT		AT rich interactive domain 2 (ARID, RFX-like)							203.0	184.0	190.0					12																	46233248		2203	4300	6503	SO:0001819	synonymous_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46233248C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1467C>T	12.37:g.46233248C>T						ARID2_uc001ror.2_Silent_p.V489V|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Silent_p.V116V|ARID2_uc001rot.1_Silent_p.V135V	p.V489V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	11	1467	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	489					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Silent	SNP	ENST00000334344.6	37	c.1467C>T	CCDS31783.1																																																																																				PASS	0.403	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		4	225	4	225	---	---	---	---
DIP2B	57609	broad.mit.edu	37	12	51138612	51138612	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:51138612A>T	ENST00000301180.5	+	38	4755	c.4721A>T	c.(4720-4722)tAt>tTt	p.Y1574F	Y_RNA_ENST00000363558.1_RNA	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1574						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.Y1574F(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TACGTGGCTTATAACATGTAA	0.507																																						uc001rwv.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)|pancreas(1)	6						c.(4720-4722)TAT>TTT		DIP2 disco-interacting protein 2 homolog B							103.0	94.0	97.0					12																	51138612		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51138612A>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4721A>T	12.37:g.51138612A>T	ENSP00000301180:p.Tyr1574Phe					DIP2B_uc009zlt.2_Missense_Mutation_p.Y1004F	p.Y1574F	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN			38	4877	+			1574					Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.4721A>T	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.312508	0.81358	.	.	ENSG00000066084	ENST00000301180	T	0.39056	1.1	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.44159	0.1280	M	0.63843	1.955	0.80722	D	1	P	0.45044	0.849	B	0.40066	0.318	T	0.51718	-0.8670	10	0.87932	D	0	-13.8858	15.8689	0.79091	1.0:0.0:0.0:0.0	.	1574	Q9P265	DIP2B_HUMAN	F	1574	ENSP00000301180:Y1574F	ENSP00000301180:Y1574F	Y	+	2	0	DIP2B	49424879	1.000000	0.71417	0.973000	0.42090	0.856000	0.48823	9.087000	0.94110	2.333000	0.79357	0.482000	0.46254	TAT		PASS	0.507	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		15	67	15	67	---	---	---	---
SLC11A2	4891	broad.mit.edu	37	12	51402304	51402304	+	Silent	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:51402304G>A	ENST00000262051.7	-	3	225	c.138C>T	c.(136-138)taC>taT	p.Y46Y	SLC11A2_ENST00000262052.5_Silent_p.Y46Y|SLC11A2_ENST00000547688.1_Silent_p.Y75Y|SLC11A2_ENST00000549193.1_5'UTR|SLC11A2_ENST00000547198.1_Silent_p.Y46Y|SLC11A2_ENST00000541174.2_Silent_p.Y46Y|SLC11A2_ENST00000545993.2_Silent_p.Y42Y|SLC11A2_ENST00000394904.3_Silent_p.Y75Y|SLC11A2_ENST00000546743.1_5'UTR	NM_001174126.1|NM_001174127.1	NP_001167597.1|NP_001167598.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	46					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cadmium ion transmembrane transport (GO:0070574)|cation transmembrane transport (GO:0098655)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to iron ion (GO:0071281)|cellular response to oxidative stress (GO:0034599)|cellular response to tumor necrosis factor (GO:0071356)|cobalt ion transport (GO:0006824)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detection of oxygen (GO:0003032)|erythrocyte development (GO:0048821)|ferrous iron import (GO:0070627)|ferrous iron transport (GO:0015684)|heme biosynthetic process (GO:0006783)|lead ion transport (GO:0015692)|learning or memory (GO:0007611)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organismal iron ion homeostasis (GO:0060586)|nickel cation transmembrane transport (GO:0035444)|nickel cation transport (GO:0015675)|response to cadmium ion (GO:0046686)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to manganese ion (GO:0010042)|transmembrane transport (GO:0055085)|vanadium ion transport (GO:0015676)|zinc ion transmembrane transport (GO:0071577)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|brush border (GO:0005903)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|paraferritin complex (GO:0070826)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|vacuole (GO:0005773)	cadmium ion binding (GO:0046870)|cadmium ion transmembrane transporter activity (GO:0015086)|cobalt ion binding (GO:0050897)|cobalt ion transmembrane transporter activity (GO:0015087)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|ferrous iron transmembrane transporter activity (GO:0015093)|hydrogen ion transmembrane transporter activity (GO:0015078)|inorganic cation transmembrane transporter activity (GO:0022890)|iron ion binding (GO:0005506)|lead ion transmembrane transporter activity (GO:0015094)|manganese ion binding (GO:0030145)|manganese ion transmembrane transporter activity (GO:0005384)|nickel cation binding (GO:0016151)|nickel cation transmembrane transporter activity (GO:0015099)|solute:proton symporter activity (GO:0015295)|vanadium ion transmembrane transporter activity (GO:0015100)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.Y46Y(1)		breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						AAGTGGCGAAGTACTCCTCTG	0.488																																						uc001rxe.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(136-138)TAC>TAT		solute carrier family 11 (proton-coupled							115.0	104.0	108.0					12																	51402304		2203	4300	6503	SO:0001819	synonymous_variant	4891				activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity	g.chr12:51402304G>A	AB015355	CCDS8805.1, CCDS53791.1, CCDS53792.1, CCDS53793.1	12q13	2013-07-18	2013-07-18		ENSG00000110911	ENSG00000110911		"""Solute carriers"""	10908	protein-coding gene	gene with protein product		600523		NRAMP2		7613023	Standard	NM_000617		Approved	DCT1, DMT1	uc001rxk.2	P49281	OTTHUMG00000169493	ENST00000262051.7:c.138C>T	12.37:g.51402304G>A						SLC11A2_uc001rxd.3_5'UTR|SLC11A2_uc001rxc.3_Silent_p.Y46Y|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc010smx.1_Silent_p.Y42Y|SLC11A2_uc001rxh.1_Silent_p.Y46Y|SLC11A2_uc001rxj.1_Silent_p.Y46Y|SLC11A2_uc001rxi.2_Silent_p.Y46Y|SLC11A2_uc001rxk.1_Silent_p.Y75Y|SLC11A2_uc010smy.1_Silent_p.Y9Y	p.Y46Y	NM_000617	NP_000608	P49281	NRAM2_HUMAN			3	235	-			46			Cytoplasmic (Potential).		B3KT08|B4DK84|F5H741|O43288|O60932|O94801|Q498Z5|Q8IUD7|Q96J35	Silent	SNP	ENST00000262051.7	37	c.138C>T	CCDS53792.1																																																																																				PASS	0.488	SLC11A2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404383.1			13	170	13	170	---	---	---	---
HOXC4	3221	broad.mit.edu	37	12	54447770	54447770	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:54447770G>C	ENST00000430889.2	+	1	110	c.64G>C	c.(64-66)Gaa>Caa	p.E22Q	HOXC4_ENST00000609810.1_Missense_Mutation_p.E22Q|HOXC4_ENST00000303406.4_Missense_Mutation_p.E22Q	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	22					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E22Q(1)		cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						TCCATGCGAAGAATATTCGCA	0.448																																						uc001seu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(64-66)GAA>CAA		homeobox C4							121.0	121.0	121.0					12																	54447770		2203	4300	6503	SO:0001583	missense	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54447770G>C		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.64G>C	12.37:g.54447770G>C	ENSP00000399808:p.Glu22Gln					HOXC4_uc001sex.2_Missense_Mutation_p.E22Q	p.E22Q	NM_014620	NP_055435	P09017	HXC4_HUMAN			3	744	+			22						Missense_Mutation	SNP	ENST00000430889.2	37	c.64G>C	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935015	0.73442	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	T;T	0.52983	0.64;0.64	3.41	3.41	0.39046	.	0.132726	0.49305	D	0.000147	T	0.73853	0.3640	M	0.92833	3.35	0.58432	D	0.999999	D	0.63880	0.993	D	0.70227	0.968	T	0.82208	-0.0571	10	0.87932	D	0	.	14.7795	0.69754	0.0:0.0:1.0:0.0	.	22	P09017	HXC4_HUMAN	Q	22	ENSP00000305973:E22Q;ENSP00000399808:E22Q	ENSP00000305973:E22Q	E	+	1	0	HOXC4	52734037	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.158000	0.94723	2.187000	0.69744	0.462000	0.41574	GAA		PASS	0.448	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			120	132	120	132	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70983913	70983913	+	Silent	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:70983913C>T	ENST00000261266.5	-	6	1256	c.1227G>A	c.(1225-1227)cgG>cgA	p.R409R	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000334414.6_Silent_p.R627R|PTPRB_ENST00000550358.1_Silent_p.R627R|PTPRB_ENST00000551525.1_Silent_p.R626R|PTPRB_ENST00000550857.1_Intron|PTPRB_ENST00000451516.2_Intron|PTPRB_ENST00000538708.1_Silent_p.R409R	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	409	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R409R(2)|p.R627R(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGAGTAGGATCCGATACTGCT	0.512											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001swb.3																			3	Substitution - coding silent(3)		lung(3)	lung(2)|skin(1)	3						c.(1225-1227)CGG>CGA		protein tyrosine phosphatase, receptor type, B							126.0	127.0	127.0					12																	70983913		2007	4192	6199	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70983913C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1227G>A	12.37:g.70983913C>T			OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1126	PTPRB_uc010sto.1_Silent_p.R409R|PTPRB_uc010stp.1_Intron|PTPRB_uc001swc.3_Silent_p.R627R|PTPRB_uc001swa.3_Silent_p.R627R|PTPRB_uc001swd.3_Silent_p.R626R|PTPRB_uc009zrr.1_Silent_p.R506R	p.R409R	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		6	1257	-	Renal(347;0.236)		409			Fibronectin type-III 5.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.1227G>A	CCDS44944.1																																																																																				PASS	0.512	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			49	133	49	133	---	---	---	---
PTPRR	5801	broad.mit.edu	37	12	71139710	71139710	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:71139710G>T	ENST00000283228.2	-	6	1347	c.895C>A	c.(895-897)Ctg>Atg	p.L299M	PTPRR_ENST00000440835.2_Missense_Mutation_p.L54M|PTPRR_ENST00000342084.4_Missense_Mutation_p.L187M|PTPRR_ENST00000549308.1_Missense_Mutation_p.L54M|PTPRR_ENST00000378778.1_Missense_Mutation_p.L93M	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	299					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.L299M(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)		ACAACATTCAGTACCTTTGGG	0.537																																						uc001swi.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(895-897)CTG>ATG		protein tyrosine phosphatase, receptor type, R							195.0	146.0	163.0					12																	71139710		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71139710G>T	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	ENST00000283228.2:c.895C>A	12.37:g.71139710G>T	ENSP00000283228:p.Leu299Met					PTPRR_uc001swh.1_Missense_Mutation_p.L54M|PTPRR_uc009zrs.2_Missense_Mutation_p.L148M|PTPRR_uc010stq.1_Missense_Mutation_p.L187M|PTPRR_uc010str.1_Missense_Mutation_p.L148M	p.L299M	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	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)	6	1311	-			299			Cytoplasmic (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.895C>A	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242758	0.58995	.	.	ENSG00000153233	ENST00000440835;ENST00000283228;ENST00000378778;ENST00000342084;ENST00000549308;ENST00000550661	T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07	5.21	4.29	0.51040	.	0.159208	0.28252	N	0.016022	T	0.28566	0.0707	N	0.22421	0.69	0.27140	N	0.961663	P;P;B;P	0.45283	0.855;0.573;0.374;0.664	B;B;B;B	0.41764	0.212;0.366;0.203;0.201	T	0.14924	-1.0455	10	0.49607	T	0.09	-8.4625	8.5632	0.33523	0.0:0.4279:0.4496:0.1225	.	148;187;93;299	B7Z998;F5GXR7;Q15256-4;Q15256	.;.;.;PTPRR_HUMAN	M	54;299;93;187;54;54	ENSP00000391750:L54M;ENSP00000283228:L299M;ENSP00000368054:L93M;ENSP00000339605:L187M;ENSP00000446943:L54M;ENSP00000449616:L54M	ENSP00000283228:L299M	L	-	1	2	PTPRR	69425977	1.000000	0.71417	0.991000	0.47740	0.972000	0.66771	2.940000	0.49003	2.426000	0.82243	0.655000	0.94253	CTG		PASS	0.537	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		35	81	35	81	---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85626479	85626479	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:85626479A>G	ENST00000393217.2	+	26	5022	c.4961A>G	c.(4960-4962)cAc>cGc	p.H1654R	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1654								p.H1654R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGCAGCAATCACTTTTTGCCT	0.338																																						uc001tac.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4960-4962)CAC>CGC		leucine-rich repeats and IQ motif containing 1							140.0	124.0	129.0					12																	85626479		1855	4083	5938	SO:0001583	missense	84125							g.chr12:85626479A>G	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.4961A>G	12.37:g.85626479A>G	ENSP00000376910:p.His1654Arg						p.H1654R	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	26	5072	+			1654					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.4961A>G	CCDS41816.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.062|9.062	0.994791|0.994791	0.19043|0.19043	.|.	.|.	ENSG00000133640|ENSG00000133640	ENST00000393217|ENST00000526363	T|.	0.44482|.	0.92|.	5.27|5.27	0.319|0.319	0.15873|0.15873	.|.	.|.	.|.	.|.	.|.	T|T	0.28863|0.28863	0.0716|0.0716	N|N	0.24115|0.24115	0.695|0.695	0.26790|0.26790	N|N	0.96942|0.96942	B|.	0.32071|.	0.355|.	B|.	0.24974|.	0.057|.	T|T	0.28586|0.28586	-1.0039|-1.0039	9|5	0.35671|.	T|.	0.21|.	.|.	8.8503|8.8503	0.35194|0.35194	0.6013:0.0:0.3987:0.0|0.6013:0.0:0.3987:0.0	.|.	1654|.	Q96JM4|.	LRIQ1_HUMAN|.	R|A	1654|75	ENSP00000376910:H1654R|.	ENSP00000376910:H1654R|.	H|T	+|+	2|1	0|0	LRRIQ1|LRRIQ1	84150610|84150610	0.931000|0.931000	0.31567|0.31567	0.996000|0.996000	0.52242|0.52242	0.972000|0.972000	0.66771|0.66771	0.113000|0.113000	0.15499|0.15499	0.094000|0.094000	0.17404|0.17404	-0.256000|-0.256000	0.11100|0.11100	CAC|ACT		PASS	0.338	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		42	51	42	51	---	---	---	---
CEP83	51134	broad.mit.edu	37	12	94706779	94706779	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:94706779A>C	ENST00000397809.5	-	15	2271	c.1722T>G	c.(1720-1722)caT>caG	p.H574Q	CCDC41_ENST00000339839.5_Missense_Mutation_p.H574Q	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		566					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)		p.H574Q(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						ATTTGTTTTCATGAAGAGATT	0.269																																						uc001tdd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1720-1722)CAT>CAG		NY-REN-58 antigen							96.0	85.0	88.0					12																	94706779		1791	4057	5848	SO:0001583	missense	51134							g.chr12:94706779A>C																												ENST00000397809.5:c.1722T>G	12.37:g.94706779A>C	ENSP00000380911:p.His574Gln					CCDC41_uc001tde.2_Missense_Mutation_p.H574Q|CCDC41_uc009zsw.1_RNA	p.H574Q	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN			15	2308	-			566			Potential.		A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.1722T>G	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.650298	0.29336	.	.	ENSG00000173588	ENST00000552632;ENST00000339839;ENST00000397809	T;T;T	0.20881	2.04;2.04;2.04	4.93	3.78	0.43462	.	.	.	.	.	T	0.15522	0.0374	L	0.36672	1.1	0.80722	D	1	P	0.37864	0.61	B	0.35413	0.202	T	0.04635	-1.0937	9	0.27785	T	0.31	-3.9012	10.5158	0.44889	0.923:0.0:0.077:0.0	.	566	Q9Y592	CCD41_HUMAN	Q	38;574;574	ENSP00000447094:H38Q;ENSP00000344655:H574Q;ENSP00000380911:H574Q	ENSP00000344655:H574Q	H	-	3	2	CCDC41	93230910	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.884000	0.56175	0.734000	0.32515	0.374000	0.22700	CAT		PASS	0.269	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			11	32	11	32	---	---	---	---
TBX5	6910	broad.mit.edu	37	12	114836499	114836499	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:114836499G>T	ENST00000310346.4	-	5	1055	c.389C>A	c.(388-390)gCc>gAc	p.A130D	TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000349716.5_Missense_Mutation_p.A80D|TBX5_ENST00000526441.1_Missense_Mutation_p.A130D|TBX5_ENST00000405440.2_Missense_Mutation_p.A130D	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	130					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.A130D(2)|p.A130V(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCCAGGCATGGCGGGCTCAGC	0.612																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2																			4	Substitution - Missense(4)		lung(2)|endometrium(2)	ovary(6)|pancreas(1)|skin(1)	8						c.(388-390)GCC>GAC		T-box 5 isoform 1							43.0	38.0	40.0					12																	114836499		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114836499G>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.389C>A	12.37:g.114836499G>T	ENSP00000309913:p.Ala130Asp					TBX5_uc001tvp.2_Missense_Mutation_p.A130D|TBX5_uc001tvq.2_Missense_Mutation_p.A80D|TBX5_uc010syv.1_Missense_Mutation_p.A130D	p.A130D	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	5	884	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		130			T-box.		A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.389C>A	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212264	0.79240	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	4.41	4.41	0.53225	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.87446	0.6179	M	0.66939	2.045	0.80722	D	1	P;P	0.42584	0.48;0.784	B;B	0.43658	0.176;0.426	D	0.86226	0.1634	10	0.27082	T	0.32	.	17.5477	0.87867	0.0:0.0:1.0:0.0	.	130;130	Q99593-2;Q99593	.;TBX5_HUMAN	D	80;130;27;130;130	ENSP00000337723:A80D;ENSP00000309913:A130D;ENSP00000384152:A130D;ENSP00000433292:A130D	ENSP00000309913:A130D	A	-	2	0	TBX5	113320882	1.000000	0.71417	0.997000	0.53966	0.694000	0.40290	9.586000	0.98226	2.425000	0.82216	0.655000	0.94253	GCC		PASS	0.612	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		8	9	8	9	---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116424272	116424272	+	Silent	SNP	C	C	T	rs200776562		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:116424272C>T	ENST00000281928.3	-	19	4343	c.4137G>A	c.(4135-4137)ccG>ccA	p.P1379P		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1379						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.P1379P(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GGATGGGCAACGGCTCAGGAG	0.473													C|||	1	0.000199681	0.0	0.0	5008	,	,		18880	0.001		0.0	False		,,,				2504	0.0					uc001tvw.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8						c.(4135-4137)CCG>CCA		mediator complex subunit 13-like							93.0	84.0	87.0					12																	116424272		2203	4300	6503	SO:0001819	synonymous_variant	23389				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			g.chr12:116424272C>T	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.4137G>A	12.37:g.116424272C>T							p.P1379P	NM_015335	NP_056150	Q71F56	MD13L_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0407)	19	4192	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		1379					A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Silent	SNP	ENST00000281928.3	37	c.4137G>A	CCDS9177.1																																																																																				PASS	0.473	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3			14	83	14	83	---	---	---	---
TUBA3C	7278	broad.mit.edu	37	13	19748040	19748040	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr13:19748040G>A	ENST00000400113.3	-	5	1420	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	439					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.S439F(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GGCTTCCACGGAATCCACGCC	0.592																																						uc009zzj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1315-1317)TCC>TTC		tubulin, alpha 3c							116.0	120.0	118.0					13																	19748040		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19748040G>A	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.1316C>T	13.37:g.19748040G>A	ENSP00000382982:p.Ser439Phe						p.S439F	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	5	1365	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	439					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.1316C>T	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	7.902	0.734674	0.15574	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.78816	-1.21	1.22	1.22	0.21188	.	0.145407	0.29558	U	0.011815	T	0.80149	0.4570	.	.	.	0.45272	D	0.998278	.	.	.	.	.	.	T	0.80153	-0.1501	7	0.87932	D	0	.	8.3643	0.32378	0.0:0.0:1.0:0.0	.	.	.	.	F	439;407	ENSP00000382982:S439F	ENSP00000354037:S407F	S	-	2	0	TUBA3C	18646040	0.000000	0.05858	0.937000	0.37676	0.666000	0.39218	0.496000	0.22499	0.982000	0.38575	0.194000	0.17425	TCC		PASS	0.592	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		8	140	8	140	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29608097	29608097	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr13:29608097C>G	ENST00000431530.3	+	2	2369	c.2311C>G	c.(2311-2313)Cgg>Ggg	p.R771G		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	761	Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.R771G(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AACTTTCTATCGGTCAGCCAT	0.453																																						uc001usl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2311-2313)CGG>GGG		hypothetical protein LOC23281 isoform a							89.0	85.0	86.0					13																	29608097		1962	4155	6117	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29608097C>G	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2311C>G	13.37:g.29608097C>G	ENSP00000392057:p.Arg771Gly						p.R771G	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			2	2369	+			761			Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2311C>G	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919871	0.73098	.	.	ENSG00000132938	ENST00000431530	T	0.44482	0.92	5.46	5.46	0.80206	.	0.000000	0.56097	D	0.000022	T	0.65144	0.2663	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.64162	-0.6472	9	.	.	.	.	18.2952	0.90143	0.0:1.0:0.0:0.0	.	761	Q5JR59	MTUS2_HUMAN	G	771	ENSP00000392057:R771G	.	R	+	1	2	MTUS2	28506097	1.000000	0.71417	0.532000	0.27989	0.933000	0.57130	3.935000	0.56560	2.543000	0.85770	0.655000	0.94253	CGG		PASS	0.453	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		3	44	3	44	---	---	---	---
CCNA1	8900	broad.mit.edu	37	13	37014302	37014302	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr13:37014302G>T	ENST00000255465.4	+	6	1344	c.1080G>T	c.(1078-1080)agG>agT	p.R360S	CCNA1_ENST00000440264.1_Missense_Mutation_p.R316S|CCNA1_ENST00000418263.1_Missense_Mutation_p.R359S|CCNA1_ENST00000449823.1_Missense_Mutation_p.R316S			P78396	CCNA1_HUMAN	cyclin A1	360					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.R360S(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TGTGCGTCAGGACTGAGAACC	0.468																																						uc001uvr.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)	5						c.(1078-1080)AGG>AGT		cyclin A1 isoform a							124.0	122.0	123.0					13																	37014302		2203	4300	6503	SO:0001583	missense	8900				cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	g.chr13:37014302G>T	U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.1080G>T	13.37:g.37014302G>T	ENSP00000255465:p.Arg360Ser					CCNA1_uc010teo.1_Missense_Mutation_p.R316S|CCNA1_uc010abq.2_Missense_Mutation_p.R316S|CCNA1_uc010abp.2_Missense_Mutation_p.R316S|CCNA1_uc001uvs.3_Missense_Mutation_p.R359S|CCNA1_uc010abr.2_RNA	p.R360S	NM_003914	NP_003905	P78396	CCNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)	6	1430	+		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	360					B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	ENST00000255465.4	37	c.1080G>T	CCDS9357.1	.	.	.	.	.	.	.	.	.	.	G	9.413	1.080998	0.20309	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	6.03	-3.41	0.04839	Cyclin, C-terminal (1);Cyclin-like (3);	0.364949	0.35407	N	0.003223	T	0.23210	0.0561	L	0.58810	1.83	0.29767	N	0.835045	B;P	0.37015	0.312;0.578	B;B	0.42692	0.133;0.395	T	0.26360	-1.0105	10	0.72032	D	0.01	.	12.363	0.55213	0.2286:0.1151:0.6564:0.0	.	359;360	P78396-2;P78396	.;CCNA1_HUMAN	S	316;316;359;360	ENSP00000400666:R316S;ENSP00000409873:R316S;ENSP00000396479:R359S;ENSP00000255465:R360S	ENSP00000255465:R360S	R	+	3	2	CCNA1	35912302	0.348000	0.24861	0.133000	0.22050	0.243000	0.25628	0.071000	0.14594	-0.608000	0.05731	-0.378000	0.06908	AGG		PASS	0.468	CCNA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044514.2	NM_003914		46	57	46	57	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77629779	77629779	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr13:77629779T>C	ENST00000544440.2	-	80	13464	c.13447A>G	c.(13447-13449)Aca>Gca	p.T4483A	MYCBP2_ENST00000357337.6_Missense_Mutation_p.T4483A|MYCBP2_ENST00000407578.2_Missense_Mutation_p.T4521A					MYC binding protein 2, E3 ubiquitin protein ligase									p.T4483A(1)|p.I4483V(1)|p.T4521A(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)		CCAGGAGTTGTGATAGCTTCA	0.363																																						uc001vkf.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(13447-13449)ACA>GCA		MYC binding protein 2							134.0	102.0	113.0					13																	77629779		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77629779T>C	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	ENST00000544440.2:c.13447A>G	13.37:g.77629779T>C	ENSP00000444596:p.Thr4483Ala					MYCBP2_uc010aev.2_Missense_Mutation_p.T3887A|MYCBP2_uc001vke.2_Missense_Mutation_p.T1100A	p.T4483A	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	81	13538	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	4483						Missense_Mutation	SNP	ENST00000544440.2	37	c.13447A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.27|16.27	3.074905|3.074905	0.55646|0.55646	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000429715|ENST00000357337;ENST00000407578;ENST00000544440	.|T;T;T	.|0.29142	.|1.59;1.58;1.59	5.11|5.11	3.94|3.94	0.45596|0.45596	.|.	.|0.113194	.|0.64402	.|D	.|0.000013	T|T	0.26991|0.26991	0.0661|0.0661	L|L	0.46614|0.46614	1.455|1.455	0.53688|0.53688	D|D	0.999978|0.999978	.|B	.|0.17268	.|0.021	.|B	.|0.18263	.|0.021	T|T	0.04752|0.04752	-1.0929|-1.0929	5|10	.|0.42905	.|T	.|0.14	.|.	10.6315|10.6315	0.45538|0.45538	0.0:0.0749:0.0:0.925|0.0:0.0749:0.0:0.925	.|.	.|4483	.|O75592	.|MYCB2_HUMAN	R|A	903|4483;4521;4483	.|ENSP00000349892:T4483A;ENSP00000384288:T4521A;ENSP00000444596:T4483A	.|ENSP00000349892:T4483A	H|T	-|-	2|1	0|0	MYCBP2|MYCBP2	76527780|76527780	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.996000|0.996000	0.88848|0.88848	5.814000|5.814000	0.69208|0.69208	0.968000|0.968000	0.38212|0.38212	0.533000|0.533000	0.62120|0.62120	CAC|ACA		PASS	0.363	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		27	58	27	58	---	---	---	---
MYH6	4624	broad.mit.edu	37	14	23869498	23869498	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr14:23869498C>A	ENST00000356287.3	-	13	1577	c.1548G>T	c.(1546-1548)atG>atT	p.M516I	MYH6_ENST00000405093.3_Missense_Mutation_p.M516I			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	516	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)	p.M516I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTGCAGGTCCATGCCAAAGT	0.557																																						uc001wjv.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(1546-1548)ATG>ATT		myosin heavy chain 6							254.0	183.0	207.0					14																	23869498		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23869498C>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1548G>T	14.37:g.23869498C>A	ENSP00000348634:p.Met516Ile					MYH6_uc010akp.1_Missense_Mutation_p.M516I	p.M516I	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	14	1615	-	all_cancers(95;2.54e-05)		516			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.1548G>T	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	19.26	3.794186	0.70452	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.86956	-2.19;-2.19	4.28	4.28	0.50868	Myosin head, motor domain (3);	.	.	.	.	D	0.88276	0.6393	L	0.60067	1.865	0.58432	D	0.999998	B;B	0.23377	0.084;0.084	B;B	0.37943	0.261;0.261	D	0.87955	0.2726	9	0.87932	D	0	.	16.0743	0.80958	0.0:1.0:0.0:0.0	.	516;516	D9YZU2;P13533	.;MYH6_HUMAN	I	516	ENSP00000386041:M516I;ENSP00000348634:M516I	ENSP00000348634:M516I	M	-	3	0	MYH6	22939338	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.385000	0.79763	2.098000	0.63641	0.650000	0.86243	ATG		PASS	0.557	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			30	55	30	55	---	---	---	---
RIPK3	11035	broad.mit.edu	37	14	24805493	24805493	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr14:24805493G>A	ENST00000216274.5	-	10	1663	c.1445C>T	c.(1444-1446)tCg>tTg	p.S482L	ADCY4_ENST00000310677.4_5'Flank|RP11-934B9.3_ENST00000555591.1_Intron|ADCY4_ENST00000418030.2_5'Flank|ADCY4_ENST00000554068.2_5'Flank|ADCY4_ENST00000396747.3_5'Flank|RIPK3_ENST00000554338.1_5'Flank|ADCY4_ENST00000558563.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	482					activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)	p.S482L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CCCCTTGCCCGAAGGTGCCAA	0.542																																					Pancreas(58;918 1191 4668 13304 15331)	uc001wpb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)	4						c.(1444-1446)TCG>TTG		receptor-interacting serine-threonine kinase 3							79.0	82.0	81.0					14																	24805493		2203	4300	6503	SO:0001583	missense	11035				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity	g.chr14:24805493G>A	AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.1445C>T	14.37:g.24805493G>A	ENSP00000216274:p.Ser482Leu					ADCY4_uc001wov.2_5'Flank|ADCY4_uc001wow.2_5'Flank|ADCY4_uc010toh.1_5'Flank|ADCY4_uc001wox.2_5'Flank|ADCY4_uc001woy.2_5'Flank|ADCY4_uc001woz.3_5'Flank|RIPK3_uc001wpa.2_Missense_Mutation_p.S282L|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_Missense_Mutation_p.S261L	p.S482L	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	10	1655	-			482					B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Missense_Mutation	SNP	ENST00000216274.5	37	c.1445C>T	CCDS9628.1	.	.	.	.	.	.	.	.	.	.	G	3.322	-0.138619	0.06669	.	.	ENSG00000129465	ENST00000216274	T	0.77098	-1.07	4.2	-4.54	0.03452	.	2.482660	0.01506	N	0.017700	T	0.57888	0.2084	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41395	-0.9511	10	0.48119	T	0.1	8.3087	2.3553	0.04294	0.4311:0.2693:0.2001:0.0995	.	482	Q9Y572	RIPK3_HUMAN	L	482	ENSP00000216274:S482L	ENSP00000216274:S482L	S	-	2	0	RIPK3	23875333	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.599000	0.02085	-1.049000	0.03234	-0.812000	0.03155	TCG		PASS	0.542	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871		47	93	47	93	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33016177	33016177	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr14:33016177A>C	ENST00000280979.4	+	4	2488	c.2318A>C	c.(2317-2319)aAc>aCc	p.N773T	AKAP6_ENST00000557272.1_Missense_Mutation_p.N773T|AKAP6_ENST00000557354.1_Missense_Mutation_p.N773T	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	773					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.N773T(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CACCAAGACAACTATGAAGCC	0.383																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(2317-2319)AAC>ACC		A-kinase anchor protein 6							65.0	72.0	70.0					14																	33016177		2183	4224	6407	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33016177A>C	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2318A>C	14.37:g.33016177A>C	ENSP00000280979:p.Asn773Thr					AKAP6_uc010aml.2_Missense_Mutation_p.N770T	p.N773T	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	4	2488	+	Breast(36;0.0388)|Prostate(35;0.15)		773			Spectrin 1.		A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.2318A>C	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	A	16.30	3.085087	0.55861	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.33654	1.4;1.4;1.4	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.48822	0.1521	M	0.66939	2.045	0.48087	D	0.999589	P;P	0.52463	0.953;0.911	P;P	0.49387	0.532;0.609	T	0.53258	-0.8464	10	0.87932	D	0	-24.2003	16.3245	0.82970	1.0:0.0:0.0:0.0	.	773;773	A7E242;Q13023	.;AKAP6_HUMAN	T	773	ENSP00000280979:N773T;ENSP00000450531:N773T;ENSP00000451247:N773T	ENSP00000280979:N773T	N	+	2	0	AKAP6	32085928	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.798000	0.69095	2.254000	0.74563	0.460000	0.39030	AAC		PASS	0.383	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		43	93	43	93	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47324237	47324237	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr14:47324237G>T	ENST00000399232.2	-	15	3030	c.2666C>A	c.(2665-2667)aCt>aAt	p.T889N	MDGA2_ENST00000439988.3_Missense_Mutation_p.T958N|MDGA2_ENST00000357362.3_Missense_Mutation_p.T660N|MDGA2_ENST00000399222.3_Missense_Mutation_p.T91N|MDGA2_ENST00000426342.1_Missense_Mutation_p.T660N	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	889	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T660N(2)|p.T958N(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTGAAATGAAGTAATTGGGTA	0.323																																						uc001wwj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(2665-2667)ACT>AAT		MAM domain containing 1 isoform 1							133.0	121.0	125.0					14																	47324237		1817	4074	5891	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47324237G>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2666C>A	14.37:g.47324237G>T	ENSP00000382178:p.Thr889Asn					MDGA2_uc001wwh.3_Missense_Mutation_p.T91N|MDGA2_uc001wwi.3_Missense_Mutation_p.T660N	p.T889N	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			15	2862	-			889			MAM.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.2666C>A		.	.	.	.	.	.	.	.	.	.	G	14.96	2.690577	0.48097	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000399222;ENST00000357362	T;T;T;T;T	0.02085	4.46;4.46;4.46;4.46;4.46	4.73	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.122716	0.35378	U	0.003259	T	0.02342	0.0072	N	0.13299	0.325	0.45607	D	0.998548	B	0.32862	0.387	B	0.36030	0.216	T	0.65018	-0.6270	10	0.46703	T	0.11	.	15.5477	0.76118	0.0:0.0:1.0:0.0	.	889	Q7Z553	MDGA2_HUMAN	N	889;660;958;91;660	ENSP00000400011:T889N;ENSP00000405456:T660N;ENSP00000382178:T958N;ENSP00000382168:T91N;ENSP00000349925:T660N	ENSP00000349925:T660N	T	-	2	0	MDGA2	46393987	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.140000	0.64807	2.333000	0.79357	0.557000	0.71058	ACT		PASS	0.323	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		5	110	5	110	---	---	---	---
STYX	6815	broad.mit.edu	37	14	53217453	53217453	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr14:53217453A>T	ENST00000354586.4	+	4	490	c.197A>T	c.(196-198)aAt>aTt	p.N66I	STYX_ENST00000556861.1_Intron|STYX_ENST00000442123.2_Missense_Mutation_p.N66I	NM_145251.3	NP_660294.1	Q8WUJ0	STYX_HUMAN	serine/threonine/tyrosine interacting protein	66					MAPK export from nucleus (GO:0045204)|protein dephosphorylation (GO:0006470)|regulation of ERK1 and ERK2 cascade (GO:0070372)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N66I(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					ATACGACAAAATATTGAAGCA	0.299																																						uc010tqy.1																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)AAT>ATT		serine/threonine/tyrosine interacting protein							78.0	81.0	80.0					14																	53217453		2202	4291	6493	SO:0001583	missense	6815				protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity	g.chr14:53217453A>T		CCDS9711.1	14q22.1	2011-06-09	2001-11-29		ENSG00000198252	ENSG00000198252		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	11447	protein-coding gene	gene with protein product		615814	"""serine/threonine/tyrosine-interacting protein"""			7592916	Standard	NM_145251		Approved		uc010tqy.2	Q8WUJ0	OTTHUMG00000140306	ENST00000354586.4:c.197A>T	14.37:g.53217453A>T	ENSP00000346599:p.Asn66Ile					STYX_uc001xaa.2_Missense_Mutation_p.N66I	p.N66I	NM_001130701	NP_001124173	Q8WUJ0	STYX_HUMAN			5	259	+	Breast(41;0.176)		66					B9EJG0|Q99850	Missense_Mutation	SNP	ENST00000354586.4	37	c.197A>T	CCDS9711.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.083145	0.76642	.	.	ENSG00000198252	ENST00000442123;ENST00000354586	D;D	0.85702	-2.02;-2.02	5.48	5.48	0.80851	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.092546	0.64402	D	0.000001	D	0.84224	0.5425	L	0.57130	1.785	0.53688	D	0.999972	B	0.30542	0.284	B	0.33392	0.163	D	0.84066	0.0377	10	0.66056	D	0.02	.	15.5618	0.76256	1.0:0.0:0.0:0.0	.	66	Q8WUJ0	STYX_HUMAN	I	66	ENSP00000403214:N66I;ENSP00000346599:N66I	ENSP00000346599:N66I	N	+	2	0	STYX	52287203	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.433000	0.90291	2.066000	0.61787	0.460000	0.39030	AAT		PASS	0.299	STYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276902.1	NM_145251		7	198	7	198	---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63483556	63483556	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr14:63483556T>A	ENST00000322893.7	-	2	458	c.190A>T	c.(190-192)Act>Tct	p.T64S	KCNH5_ENST00000420622.2_Missense_Mutation_p.T64S|KCNH5_ENST00000394968.1_Missense_Mutation_p.T6S|KCNH5_ENST00000394964.2_Missense_Mutation_p.T6S	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	64	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.T6S(1)|p.T64S(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TACCTGCAAGTGCTGCTTTTC	0.378																																						uc001xfx.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(190-192)ACT>TCT		potassium voltage-gated channel, subfamily H,							86.0	80.0	82.0					14																	63483556		2203	4299	6502	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63483556T>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.190A>T	14.37:g.63483556T>A	ENSP00000321427:p.Thr64Ser					KCNH5_uc001xfy.2_Missense_Mutation_p.T64S|KCNH5_uc001xfz.1_Missense_Mutation_p.T6S|KCNH5_uc001xga.2_Missense_Mutation_p.T6S	p.T64S	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	2	241	-			64			Cytoplasmic (Potential).|PAS.		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.190A>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	T	13.16	2.154561	0.38021	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.99499	-5.18;-4.99;-6.02;-6.02	5.43	5.43	0.79202	PAS (2);PAS fold (1);	0.052493	0.85682	D	0.000000	D	0.97164	0.9073	N	0.11724	0.165	0.80722	D	1	B;B;B;B	0.23128	0.009;0.004;0.004;0.08	B;B;B;B	0.30716	0.014;0.013;0.008;0.119	D	0.97646	1.0151	10	0.10902	T	0.67	.	15.4803	0.75521	0.0:0.0:0.0:1.0	.	6;6;64;64	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	S	64;64;6;6	ENSP00000321427:T64S;ENSP00000395439:T64S;ENSP00000378419:T6S;ENSP00000378415:T6S	ENSP00000321427:T64S	T	-	1	0	KCNH5	62553309	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.242000	0.72376	2.077000	0.62373	0.482000	0.46254	ACT		PASS	0.378	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318		20	91	20	91	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64488573	64488573	+	Splice_Site	SNP	A	A	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr14:64488573A>C	ENST00000344113.4	+	37	5564		c.e37-1		SYNE2_ENST00000554584.1_Splice_Site|SYNE2_ENST00000357395.3_Splice_Site|SYNE2_ENST00000358025.3_Splice_Site	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.?(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTATGCATTTAGGAGATACAA	0.318																																						uc001xgm.2																			1	Unknown(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.e37-2		spectrin repeat containing, nuclear envelope 2							68.0	63.0	65.0					14																	64488573		1837	4084	5921	SO:0001630	splice_region_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64488573A>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.5353-1A>C	14.37:g.64488573A>C						SYNE2_uc001xgl.2_Splice_Site_p.E1785_splice	p.E1785_splice	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	37	5583	+								Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Splice_Site	SNP	ENST00000344113.4	37	c.5353_splice	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	17.05	3.288938	0.59976	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3634	0.66789	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYNE2	63558326	1.000000	0.71417	0.964000	0.40570	0.770000	0.43624	5.713000	0.68415	2.130000	0.65690	0.528000	0.53228	.		PASS	0.318	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	Intron	18	66	18	66	---	---	---	---
IFT43	112752	broad.mit.edu	37	14	76452154	76452154	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr14:76452154G>C	ENST00000314067.6	+	1	59	c.25G>C	c.(25-27)Gag>Cag	p.E9Q	IFT43_ENST00000553338.1_3'UTR|TGFB3_ENST00000556674.1_5'Flank|IFT43_ENST00000556742.1_Missense_Mutation_p.E9Q|IFT43_ENST00000238628.6_Missense_Mutation_p.E9Q	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43	9					cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)		p.E9Q(2)		endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CGACTTGGACGAGGAGCTTCG	0.672																																						uc010asm.1																			2	Substitution - Missense(2)		lung(2)		0						c.(25-27)GAG>CAG		hypothetical protein LOC112752 isoform 2							60.0	50.0	54.0					14																	76452154		2203	4300	6503	SO:0001583	missense	112752				cilium morphogenesis|intraflagellar retrograde transport			g.chr14:76452154G>C	BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"""Intraflagellar transport homologs"""	29669	protein-coding gene	gene with protein product		614068	"""chromosome 14 open reading frame 179"", ""intraflagellar transport 43 homolog (Chlamydomonas)"""	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.25G>C	14.37:g.76452154G>C	ENSP00000324177:p.Glu9Gln					C14orf179_uc001xsf.2_RNA|C14orf179_uc010asl.1_Missense_Mutation_p.E9Q|C14orf179_uc001xsg.2_Missense_Mutation_p.E9Q|C14orf179_uc010tve.1_RNA|C14orf179_uc001xse.2_Missense_Mutation_p.E9Q	p.E9Q	NM_001102564	NP_001096034	Q96FT9	IFT43_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0199)	1	59	+			9					B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Missense_Mutation	SNP	ENST00000314067.6	37	c.25G>C	CCDS41973.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.725640	0.30593	.	.	ENSG00000119650	ENST00000314067;ENST00000238628;ENST00000556742	T;T	0.55234	0.58;0.53	4.04	4.04	0.47022	.	0.257343	0.30901	N	0.008660	T	0.65954	0.2741	M	0.78049	2.395	0.37552	D	0.918735	D;D;D;D	0.76494	0.977;0.989;0.989;0.999	P;P;P;D	0.66351	0.673;0.811;0.755;0.943	T	0.68387	-0.5422	10	0.33141	T	0.24	0.0183	7.8262	0.29315	0.112:0.0:0.888:0.0	.	9;9;9;9	Q96FT9;Q96FT9-3;Q96FT9-2;G3V385	IFT43_HUMAN;.;.;.	Q	9	ENSP00000324177:E9Q;ENSP00000238628:E9Q	ENSP00000238628:E9Q	E	+	1	0	IFT43	75521907	1.000000	0.71417	0.995000	0.50966	0.090000	0.18270	4.599000	0.61076	2.241000	0.73720	0.591000	0.81541	GAG		PASS	0.672	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052873		16	50	16	50	---	---	---	---
TDP1	55775	broad.mit.edu	37	14	90459730	90459730	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr14:90459730G>T	ENST00000335725.4	+	14	1694	c.1444G>T	c.(1444-1446)Gct>Tct	p.A482S	TDP1_ENST00000393452.3_Missense_Mutation_p.A482S|TDP1_ENST00000393454.2_Missense_Mutation_p.A482S|TDP1_ENST00000555880.1_Missense_Mutation_p.A482S|TDP1_ENST00000357382.3_Missense_Mutation_p.A243S	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	482					cell death (GO:0008219)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	3'-tyrosyl-DNA phosphodiesterase activity (GO:0017005)|double-stranded DNA binding (GO:0003690)|exonuclease activity (GO:0004527)|single-stranded DNA binding (GO:0003697)	p.A482S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CAAATGGTCAGCTGAGACTTC	0.373								Repair of DNA-protein crosslinks																														uc001xxy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1444-1446)GCT>TCT	Repair_of_DNA-protein_crosslinks	tyrosyl-DNA phosphodiesterase 1							83.0	76.0	78.0					14																	90459730		2203	4300	6503	SO:0001583	missense	55775				cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	g.chr14:90459730G>T	AF182002	CCDS9888.1	14q32.11	2008-08-11				ENSG00000042088			18884	protein-coding gene	gene with protein product		607198				11839309, 12244316	Standard	XM_005267847		Approved	FLJ11090, SCAN1	uc001xxz.3	Q9NUW8		ENST00000335725.4:c.1444G>T	14.37:g.90459730G>T	ENSP00000337353:p.Ala482Ser					TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.A482S|TDP1_uc010atn.2_Missense_Mutation_p.A482S|TDP1_uc001xya.2_Missense_Mutation_p.A243S|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.A482S|TDP1_uc001xyd.1_Missense_Mutation_p.A97S	p.A482S	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN		COAD - Colon adenocarcinoma(157;0.23)	14	1743	+		all_cancers(154;0.185)	482					Q2HXX4|Q86TV8|Q96BK7|Q9NZM7|Q9NZM8	Missense_Mutation	SNP	ENST00000335725.4	37	c.1444G>T	CCDS9888.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.053727|4.053727	0.75960|0.75960	.|.	.|.	ENSG00000042088|ENSG00000042088	ENST00000393452;ENST00000393454;ENST00000335725;ENST00000357382;ENST00000555880|ENST00000556063	T;T;T;T;T|T	0.62364|0.44482	0.03;0.03;0.03;0.03;0.03|0.92	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48572|0.48572	0.1507|0.1507	L|L	0.37561|0.37561	1.115|1.115	0.80722|0.80722	D|D	1|1	D;P;D;P;D|.	0.59767|.	0.983;0.934;0.986;0.934;0.986|.	P;P;D;P;D|.	0.66196|.	0.903;0.904;0.942;0.848;0.942|.	T|T	0.19321|0.19321	-1.0309|-1.0309	10|6	0.07030|.	T|.	0.85|.	-14.8309|-14.8309	19.4362|19.4362	0.94796|0.94796	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	482;482;482;243;482|.	G3V2F4;E7EPD8;B2RDI0;Q86TV8;Q9NUW8|.	.;.;.;.;TYDP1_HUMAN|.	S|I	482;482;482;243;482|122	ENSP00000377098:A482S;ENSP00000377099:A482S;ENSP00000337353:A482S;ENSP00000349952:A243S;ENSP00000450628:A482S|ENSP00000450795:S122I	ENSP00000337353:A482S|.	A|S	+|+	1|2	0|0	TDP1|TDP1	89529483|89529483	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.978000|0.978000	0.69477|0.69477	8.241000|8.241000	0.89816|0.89816	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GCT|AGC		PASS	0.373	TDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411239.1	NM_018319		12	42	12	42	---	---	---	---
TRAF3	7187	broad.mit.edu	37	14	103371655	103371655	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr14:103371655A>G	ENST00000560371.1	+	11	1458	c.1241A>G	c.(1240-1242)tAc>tGc	p.Y414C	TRAF3_ENST00000539721.1_Missense_Mutation_p.Y331C|TRAF3_ENST00000351691.5_Missense_Mutation_p.Y389C|TRAF3_ENST00000392745.2_Missense_Mutation_p.Y414C|TRAF3_ENST00000347662.4_Missense_Mutation_p.Y389C	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	414					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y414C(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		ACCGCCAGCTACAATGGAGTG	0.597																																						uc001ymc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(1240-1242)TAC>TGC		TNF receptor-associated factor 3 isoform 1							82.0	78.0	80.0					14																	103371655		2203	4300	6503	SO:0001583	missense	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103371655A>G	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.1241A>G	14.37:g.103371655A>G	ENSP00000454207:p.Tyr414Cys					TRAF3_uc001yme.1_Missense_Mutation_p.Y389C|TRAF3_uc001ymd.1_Missense_Mutation_p.Y414C|TRAF3_uc010txy.1_Missense_Mutation_p.Y331C	p.Y414C	NM_145725	NP_663777	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	12	1594	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	414					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000560371.1	37	c.1241A>G	CCDS9975.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.897986	0.52227	.	.	ENSG00000131323	ENST00000392745;ENST00000347662;ENST00000351691;ENST00000539721	T;T;T	0.31247	1.5;1.5;1.5	5.45	5.45	0.79879	TRAF-type (1);TRAF-like (1);	0.058726	0.64402	D	0.000001	T	0.37598	0.1009	L	0.45228	1.405	0.58432	D	0.999999	D;P;D	0.58268	0.964;0.803;0.982	P;B;P	0.51297	0.59;0.321;0.665	T	0.06092	-1.0846	10	0.33940	T	0.23	-31.7334	15.5369	0.76011	1.0:0.0:0.0:0.0	.	331;389;414	Q13114-2;A6NHG8;Q13114	.;.;TRAF3_HUMAN	C	414;389;414;331	ENSP00000376500:Y414C;ENSP00000328003:Y389C;ENSP00000445998:Y331C	ENSP00000328003:Y389C	Y	+	2	0	TRAF3	102441408	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	5.911000	0.69939	2.069000	0.61940	0.533000	0.62120	TAC		PASS	0.597	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		25	66	25	66	---	---	---	---
IGHV3-23	28442	broad.mit.edu	37	14	106725354	106725354	+	RNA	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr14:106725354C>A	ENST00000390609.2	-	0	276									immunoglobulin heavy variable 3-23																		TAGCTGAGACCCACTCCAGCC	0.572																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							159.0	217.0	198.0					14																	106725354		2145	4273	6418			8755							g.chr14:106725354C>A	M99660		14q32.33	2012-02-08			ENSG00000211949	ENSG00000211949		"""Immunoglobulins / IGH locus"""	5588	other	immunoglobulin gene		611939					Standard	NG_001019		Approved				OTTHUMG00000152091		14.37:g.106725354C>A														588		-									RNA	SNP	ENST00000390609.2	37	c.18193G>T																																																																																					PASS	0.572	IGHV3-23-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325188.1	NG_001019		57	368	57	368	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24924477	24924477	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr15:24924477C>T	ENST00000329468.2	+	1	3937	c.3463C>T	c.(3463-3465)Ctt>Ttt	p.L1155F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1155					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L1155F(1)									CTGTTTCCAACTTCCGTAAGA	0.428																																						uc001ywo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(3463-3465)CTT>TTT		hypothetical protein LOC23742							76.0	67.0	70.0					15																	24924477		2203	4299	6502	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24924477C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3463C>T	15.37:g.24924477C>T	ENSP00000333735:p.Leu1155Phe						p.L1155F	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	3937	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	1155						Missense_Mutation	SNP	ENST00000329468.2	37	c.3463C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	11.46	1.644496	0.29246	.	.	ENSG00000185823	ENST00000329468	T	0.09911	2.93	1.7	-3.4	0.04853	.	.	.	.	.	T	0.04907	0.0132	N	0.08118	0	0.09310	N	1	B	0.18610	0.029	B	0.12837	0.008	T	0.38394	-0.9663	9	0.87932	D	0	.	6.4431	0.21861	0.0:0.6063:0.0:0.3937	.	1155	Q9NZP6	CO002_HUMAN	F	1155	ENSP00000333735:L1155F	ENSP00000333735:L1155F	L	+	1	0	C15orf2	22475570	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.164000	0.03135	-0.921000	0.03794	-0.657000	0.03884	CTT		PASS	0.428	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		5	86	5	86	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25966982	25966982	+	Silent	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr15:25966982G>A	ENST00000356865.6	-	7	1296	c.1185C>T	c.(1183-1185)gaC>gaT	p.D395D		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	395					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.D395D(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)		ACAACTGCATGTCCTGGTTAA	0.423																																						uc010ayu.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(1183-1185)GAC>GAT		ATPase, class V, type 10A							133.0	122.0	126.0					15																	25966982		2203	4300	6503	SO:0001819	synonymous_variant	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.chr15:25966982G>A	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.1185C>T	15.37:g.25966982G>A							p.D395D	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)	7	1291	-		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)	395			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.1185C>T	CCDS32178.1																																																																																				PASS	0.423	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		10	132	10	132	---	---	---	---
GABRA5	2558	broad.mit.edu	37	15	27193318	27193318	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr15:27193318G>T	ENST00000335625.5	+	11	2215	c.1327G>T	c.(1327-1329)Gtt>Ttt	p.V443F	GABRA5_ENST00000400081.3_Missense_Mutation_p.V443F|GABRA5_ENST00000355395.5_Missense_Mutation_p.V443F	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	443					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.V443F(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	TTTCAACTTAGTTTACTGGGC	0.443																																						uc001zbd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1327-1329)GTT>TTT		gamma-aminobutyric acid A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						33.0	32.0	32.0					15																	27193318		1832	4092	5924	SO:0001583	missense	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27193318G>T		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.1327G>T	15.37:g.27193318G>T	ENSP00000335592:p.Val443Phe					GABRA5_uc001zbe.1_RNA	p.V443F	NM_000810	NP_000801	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	12	1666	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	443			Helical; (Potential).		A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Missense_Mutation	SNP	ENST00000335625.5	37	c.1327G>T	CCDS45194.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971139	0.74246	.	.	ENSG00000186297	ENST00000335625;ENST00000355395;ENST00000400081	D;D;D	0.86694	-2.16;-2.16;-2.16	5.06	5.06	0.68205	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.88636	0.6490	N	0.21508	0.67	0.80722	D	1	D	0.62365	0.991	D	0.72625	0.978	D	0.87434	0.2390	10	0.30854	T	0.27	.	17.7689	0.88486	0.0:0.0:1.0:0.0	.	443	P31644	GBRA5_HUMAN	F	443	ENSP00000335592:V443F;ENSP00000347557:V443F;ENSP00000382953:V443F	ENSP00000335592:V443F	V	+	1	0	GABRA5	24776064	1.000000	0.71417	0.992000	0.48379	0.688000	0.40055	7.764000	0.85297	2.503000	0.84419	0.655000	0.94253	GTT		PASS	0.443	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			9	19	9	19	---	---	---	---
FSIP1	161835	broad.mit.edu	37	15	40030346	40030346	+	Silent	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr15:40030346C>A	ENST00000350221.3	-	8	1046	c.837G>T	c.(835-837)ctG>ctT	p.L279L	FSIP1_ENST00000559692.1_5'Flank	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	279								p.L279L(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AAAGCTCAACCAGCCTTTTCT	0.383																																						uc001zki.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(835-837)CTG>CTT		fibrous sheath interacting protein 1							133.0	137.0	136.0					15																	40030346		2203	4300	6503	SO:0001819	synonymous_variant	161835							g.chr15:40030346C>A	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.837G>T	15.37:g.40030346C>A							p.L279L	NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	8	1055	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	279					Q6X2C8|Q86Y89	Silent	SNP	ENST00000350221.3	37	c.837G>T	CCDS10050.1																																																																																				PASS	0.383	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		35	86	35	86	---	---	---	---
UBR1	197131	broad.mit.edu	37	15	43363118	43363118	+	Silent	SNP	T	T	A	rs201083590		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr15:43363118T>A	ENST00000290650.4	-	5	612	c.534A>T	c.(532-534)tcA>tcT	p.S178S	UBR1_ENST00000382177.2_Silent_p.S178S	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	178					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S178S(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACGGACAGCGTGAATTCTATA	0.323																																						uc001zqq.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(532-534)TCA>TCT		ubiquitin protein ligase E3 component n-recognin							70.0	70.0	70.0					15																	43363118		2203	4299	6502	SO:0001819	synonymous_variant	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43363118T>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.534A>T	15.37:g.43363118T>A						UBR1_uc010udk.1_Silent_p.S178S	p.S178S	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	5	600	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	178					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Silent	SNP	ENST00000290650.4	37	c.534A>T	CCDS10091.1																																																																																				PASS	0.323	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		24	62	24	62	---	---	---	---
SLC30A4	7782	broad.mit.edu	37	15	45779781	45779781	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr15:45779781A>G	ENST00000261867.4	-	6	1258	c.944T>C	c.(943-945)cTt>cCt	p.L315P	RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	315					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)	p.L315P(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		AAAAGCCACAAGTAATGAAAA	0.308																																						uc001zvj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(943-945)CTT>CCT		solute carrier family 30 (zinc transporter),							135.0	144.0	141.0					15																	45779781		2198	4297	6495	SO:0001583	missense	7782				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity	g.chr15:45779781A>G		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"""Solute carriers"""	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.944T>C	15.37:g.45779781A>G	ENSP00000261867:p.Leu315Pro						p.L315P	NM_013309	NP_037441	O14863	ZNT4_HUMAN		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)	6	1256	-		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	315			Helical; (Potential).		Q8TC39	Missense_Mutation	SNP	ENST00000261867.4	37	c.944T>C	CCDS10125.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.330695	0.60853	.	.	ENSG00000104154	ENST00000261867	T	0.65916	-0.18	6.03	4.9	0.64082	.	0.060118	0.64402	D	0.000002	D	0.83880	0.5350	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86925	0.2069	10	0.87932	D	0	-15.1828	11.2311	0.48912	0.928:0.0:0.0719:0.0	.	315	O14863	ZNT4_HUMAN	P	315	ENSP00000261867:L315P	ENSP00000261867:L315P	L	-	2	0	SLC30A4	43567073	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	8.877000	0.92386	1.095000	0.41419	-0.290000	0.09829	CTT		PASS	0.308	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			3	163	3	163	---	---	---	---
SLC12A1	6557	broad.mit.edu	37	15	48561893	48561893	+	Silent	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr15:48561893G>T	ENST00000558405.1	+	18	2348	c.2334G>T	c.(2332-2334)gtG>gtT	p.V778V	SLC12A1_ENST00000380993.3_Silent_p.V778V|SLC12A1_ENST00000396577.3_Silent_p.V778V			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	778					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.V778V(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	ACACTCTGGTGATTGGATATA	0.418																																						uc001zwn.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2332-2334)GTG>GTT		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						91.0	87.0	89.0					15																	48561893		2198	4297	6495	SO:0001819	synonymous_variant	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48561893G>T		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2334G>T	15.37:g.48561893G>T						SLC12A1_uc010uew.1_Silent_p.V584V|SLC12A1_uc010bem.2_Silent_p.V778V|SLC12A1_uc001zwq.3_Silent_p.V549V|SLC12A1_uc001zwr.3_Silent_p.V505V	p.V778V	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	19	2550	+		all_lung(180;0.00219)	778					A8JYA2|E9PDW4	Silent	SNP	ENST00000558405.1	37	c.2334G>T	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	G	7.655	0.683737	0.14907	.	.	ENSG00000074803	ENST00000428362	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	T	0.78438	0.4283	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.81204	-0.1039	5	0.87932	D	0	.	18.787	0.91959	0.0:0.0:1.0:0.0	.	.	.	.	Y	591	.	ENSP00000410367:D591Y	D	+	1	0	SLC12A1	46349185	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.496000	0.53288	2.737000	0.93849	0.563000	0.77884	GAT		PASS	0.418	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			5	30	5	30	---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55964742	55964742	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr15:55964742T>A	ENST00000389286.4	-	11	1989	c.1942A>T	c.(1942-1944)Att>Ttt	p.I648F		NM_173814.4	NP_776175.2			protogenin									p.I648F(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		TAGCCCTGAATAGCAGCTGTG	0.488																																						uc002adg.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1942-1944)ATT>TTT		protogenin precursor							113.0	111.0	112.0					15																	55964742		1943	4130	6073	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55964742T>A	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1942A>T	15.37:g.55964742T>A	ENSP00000373937:p.Ile648Phe					PRTG_uc002adh.2_Missense_Mutation_p.I150F	p.I648F	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	11	1990	-			648			Fibronectin type-III 3.			Missense_Mutation	SNP	ENST00000389286.4	37	c.1942A>T	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	T	13.75	2.331340	0.41297	.	.	ENSG00000166450	ENST00000389286	T	0.61040	0.14	5.52	0.0493	0.14289	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.604083	0.17708	N	0.164662	T	0.59459	0.2195	M	0.84683	2.71	0.80722	D	1	P	0.43542	0.81	B	0.40375	0.327	T	0.66260	-0.5968	10	0.87932	D	0	-12.192	11.099	0.48163	0.0:0.3586:0.0:0.6414	.	648	Q2VWP7	PRTG_HUMAN	F	648	ENSP00000373937:I648F	ENSP00000373937:I648F	I	-	1	0	PRTG	53752034	0.992000	0.36948	0.361000	0.25849	0.770000	0.43624	1.096000	0.30976	0.065000	0.16485	0.528000	0.53228	ATT		PASS	0.488	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		23	83	23	83	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64915056	64915056	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr15:64915056C>G	ENST00000326648.3	+	2	906	c.778C>G	c.(778-780)Ctg>Gtg	p.L260V		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	260						nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.L260V(1)		breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCAGCAGTGCTGCCAATACA	0.473																																						uc002ann.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(778-780)CTG>GTG		zinc finger protein 609							191.0	175.0	180.0					15																	64915056		2203	4299	6502	SO:0001583	missense	23060					nucleus	zinc ion binding	g.chr15:64915056C>G	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.778C>G	15.37:g.64915056C>G	ENSP00000316527:p.Leu260Val						p.L260V	NM_015042	NP_055857	O15014	ZN609_HUMAN			2	778	+			260					Q0D2I2	Missense_Mutation	SNP	ENST00000326648.3	37	c.778C>G	CCDS32270.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.194662	0.58017	.	.	ENSG00000180357	ENST00000326648	T	0.45668	0.89	5.61	5.61	0.85477	.	0.064498	0.64402	D	0.000005	T	0.46639	0.1403	L	0.36672	1.1	0.46396	D	0.999023	D	0.57257	0.979	P	0.61477	0.889	T	0.20107	-1.0285	10	0.15952	T	0.53	-24.4826	11.0403	0.47827	0.0:0.8567:0.0:0.1433	.	260	O15014	ZN609_HUMAN	V	260	ENSP00000316527:L260V	ENSP00000316527:L260V	L	+	1	2	ZNF609	62702109	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.870000	0.39529	2.639000	0.89480	0.655000	0.94253	CTG		PASS	0.473	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		68	129	68	129	---	---	---	---
IL16	3603	broad.mit.edu	37	15	81598257	81598257	+	Silent	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr15:81598257A>G	ENST00000302987.4	+	16	3429	c.3429A>G	c.(3427-3429)agA>agG	p.R1143R	IL16_ENST00000394660.2_Silent_p.R1143R|RP11-761I4.4_ENST00000607019.1_RNA|IL16_ENST00000394652.2_Silent_p.R442R			Q14005	IL16_HUMAN	interleukin 16	1143	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1143R(1)|p.R1097R(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AGGTTCACAGAGTGTTTCCAA	0.507																																						uc002bgh.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(1)|skin(1)	4						c.(3427-3429)AGA>AGG		interleukin 16 isoform 2							113.0	127.0	122.0					15																	81598257		2203	4300	6503	SO:0001819	synonymous_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81598257A>G	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.3429A>G	15.37:g.81598257A>G						IL16_uc010blq.1_Silent_p.R1097R|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.R1185R|IL16_uc002bgg.2_Silent_p.R1143R|IL16_uc002bgi.1_Silent_p.R533R|IL16_uc002bgj.2_Silent_p.R637R|IL16_uc002bgk.2_Silent_p.R442R|IL16_uc002bgl.1_Silent_p.R442R|IL16_uc010unq.1_Silent_p.R442R	p.R1143R	NM_172217	NP_757366	Q14005	IL16_HUMAN			17	3805	+			1143			PDZ 3.|Interaction with PPP1R12A, PPP1R12B and PPP1R12C.		A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	c.3429A>G	CCDS42069.1																																																																																				PASS	0.507	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		7	144	7	144	---	---	---	---
EFTUD1	79631	broad.mit.edu	37	15	82512533	82512533	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr15:82512533G>A	ENST00000268206.7	-	13	1498	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	EFTUD1_ENST00000359445.3_Missense_Mutation_p.R393C	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	444					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)	p.R444C(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGTCTTGCACGCTCACGTCTC	0.498																																						uc002bgt.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1330-1332)CGT>TGT		elongation factor Tu GTP binding domain							211.0	198.0	202.0					15																	82512533		2000	4181	6181	SO:0001583	missense	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82512533G>A	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.1330C>T	15.37:g.82512533G>A	ENSP00000268206:p.Arg444Cys					EFTUD1_uc002bgu.1_Missense_Mutation_p.R393C	p.R444C	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN			13	1499	-			444					A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	ENST00000268206.7	37	c.1330C>T	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874501	0.72180	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.64438	-0.1;0.16	4.29	3.37	0.38596	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.459955	0.16331	N	0.219132	T	0.65217	0.2670	L	0.50333	1.59	0.40540	D	0.981017	D;P	0.54047	0.964;0.939	P;P	0.52710	0.707;0.513	T	0.64706	-0.6344	10	0.36615	T	0.2	-4.3913	12.9792	0.58554	0.084:0.0:0.916:0.0	.	393;444	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	C	444;393	ENSP00000268206:R444C;ENSP00000352418:R393C	ENSP00000268206:R444C	R	-	1	0	EFTUD1	80299588	1.000000	0.71417	0.962000	0.40283	0.995000	0.86356	3.107000	0.50329	2.379000	0.81126	0.585000	0.79938	CGT		PASS	0.498	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		6	392	6	392	---	---	---	---
SYNM	23336	broad.mit.edu	37	15	99673095	99673095	+	Silent	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr15:99673095G>T	ENST00000560674.1	+	5	3205	c.2736G>T	c.(2734-2736)ggG>ggT	p.G912G	RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Silent_p.G1197G|SYNM_ENST00000336292.6_Silent_p.G1509G			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1510	Tail.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)	p.G1197G(1)|p.G1509G(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						CCTCTGCTGGGGAAGGAGACC	0.562																																					Pancreas(125;1071 1762 21750 40003 40381)	uc002bup.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(4528-4530)GGG>GGT		desmuslin isoform A							75.0	81.0	79.0					15																	99673095		2031	4179	6210	SO:0001819	synonymous_variant	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99673095G>T	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.2736G>T	15.37:g.99673095G>T						SYNM_uc002buo.2_Silent_p.G1198G|SYNM_uc002buq.2_RNA	p.G1510G	NM_145728	NP_663780	O15061	SYNEM_HUMAN			6	4650	+			1510			Tail.|Interaction with DMD and UTRN.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Silent	SNP	ENST00000560674.1	37	c.4530G>T																																																																																					PASS	0.562	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		22	76	22	76	---	---	---	---
ADAMTS17	170691	broad.mit.edu	37	15	100871105	100871105	+	Missense_Mutation	SNP	T	T	C	rs371369169		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr15:100871105T>C	ENST00000268070.4	-	3	710	c.605A>G	c.(604-606)aAg>aGg	p.K202R		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	202						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K202R(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		TGTTAGAACCTTGCAGAGCTG	0.567																																						uc002bvv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(604-606)AAG>AGG		ADAM metallopeptidase with thrombospondin type 1		T	ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	106.0	105.0	105.0		605	3.3	0.8	15		105	0,8600		0,0,4300	no	missense	ADAMTS17	NM_139057.2	26	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	202/1096	100871105	1,13005	2203	4300	6503	SO:0001583	missense	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100871105T>C	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.605A>G	15.37:g.100871105T>C	ENSP00000268070:p.Lys202Arg					ADAMTS17_uc002bvx.1_5'UTR	p.K202R	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	3	684	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		202			Cysteine switch (By similarity).		Q2I7G4|Q6ZN75	Missense_Mutation	SNP	ENST00000268070.4	37	c.605A>G	CCDS10383.1	.	.	.	.	.	.	.	.	.	.	T	9.374	1.071295	0.20147	2.27E-4	0.0	ENSG00000140470	ENST00000268070	T	0.61980	0.06	4.48	3.27	0.37495	.	0.773311	0.11728	N	0.535231	T	0.47432	0.1445	L	0.29908	0.895	0.32234	N	0.573529	B	0.23128	0.08	B	0.17433	0.018	T	0.51593	-0.8686	10	0.28530	T	0.3	.	9.4632	0.38798	0.0:0.0:0.1763:0.8237	.	202	Q8TE56	ATS17_HUMAN	R	202	ENSP00000268070:K202R	ENSP00000268070:K202R	K	-	2	0	ADAMTS17	98688628	0.829000	0.29322	0.781000	0.31783	0.151000	0.21798	0.964000	0.29306	1.774000	0.52232	0.533000	0.62120	AAG		PASS	0.567	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057		46	121	46	121	---	---	---	---
LRRK1	79705	broad.mit.edu	37	15	101562654	101562654	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr15:101562654A>C	ENST00000388948.3	+	15	2278	c.1919A>C	c.(1918-1920)aAg>aCg	p.K640T	LRRK1_ENST00000284395.5_Missense_Mutation_p.K637T	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.K640T(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAGCTGATGAAGATGATCATC	0.592																																						uc002bwr.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(1918-1920)AAG>ACG		leucine-rich repeat kinase 1							98.0	103.0	102.0					15																	101562654		1989	4166	6155	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101562654A>C	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.1919A>C	15.37:g.101562654A>C	ENSP00000373600:p.Lys640Thr					LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	p.K640T	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		15	2238	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		640			Roc.			Missense_Mutation	SNP	ENST00000388948.3	37	c.1919A>C	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.615900	0.87359	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.75154	-0.91;-0.91	5.6	5.6	0.85130	ROC GTPase (1);Mitochondrial Rho-like (1);	0.000000	0.85682	D	0.000000	D	0.88209	0.6375	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.90497	0.4471	10	0.87932	D	0	.	15.7771	0.78232	1.0:0.0:0.0:0.0	.	640	Q38SD2	LRRK1_HUMAN	T	640;637	ENSP00000373600:K640T;ENSP00000284395:K637T	ENSP00000284395:K637T	K	+	2	0	LRRK1	99380177	1.000000	0.71417	1.000000	0.80357	0.766000	0.43426	9.065000	0.93941	2.115000	0.64714	0.482000	0.46254	AAG		PASS	0.592	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		38	103	38	103	---	---	---	---
USP7	7874	broad.mit.edu	37	16	9012908	9012908	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr16:9012908A>C	ENST00000344836.4	-	6	898	c.700T>G	c.(700-702)Ttc>Gtc	p.F234V	USP7_ENST00000381886.4_Missense_Mutation_p.F218V|USP7_ENST00000535863.1_Missense_Mutation_p.F135V	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	234	USP.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.F234V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TGATTCGTGAAAAATAACGTC	0.463																																						uc002czl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(700-702)TTC>GTC		ubiquitin specific peptidase 7							200.0	170.0	180.0					16																	9012908		2197	4300	6497	SO:0001583	missense	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:9012908A>C	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.700T>G	16.37:g.9012908A>C	ENSP00000343535:p.Phe234Val					USP7_uc010uyk.1_Missense_Mutation_p.F135V|USP7_uc010uyj.1_Missense_Mutation_p.F135V|USP7_uc002czk.2_Missense_Mutation_p.F218V|USP7_uc010uyl.1_RNA	p.F234V	NM_003470	NP_003461	Q93009	UBP7_HUMAN			6	899	-			234					A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	ENST00000344836.4	37	c.700T>G	CCDS32385.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.343811	0.82022	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863;ENST00000544549;ENST00000542333	T;T;T	0.05382	3.45;3.45;3.45	5.9	5.9	0.94986	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.30916	0.0780	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.06844	-1.0804	10	0.54805	T	0.06	.	16.3275	0.82990	1.0:0.0:0.0:0.0	.	234;218	Q93009;B7Z815	UBP7_HUMAN;.	V	234;242;135;135;176	ENSP00000343535:F234V;ENSP00000443646:F135V;ENSP00000439272:F176V	ENSP00000343535:F234V	F	-	1	0	USP7	8920409	1.000000	0.71417	1.000000	0.80357	0.468000	0.32798	9.198000	0.94994	2.266000	0.75297	0.528000	0.53228	TTC		PASS	0.463	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2			13	231	13	231	---	---	---	---
ACSM5	54988	broad.mit.edu	37	16	20451694	20451694	+	Missense_Mutation	SNP	C	C	G	rs536227450		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr16:20451694C>G	ENST00000331849.4	+	14	1832	c.1685C>G	c.(1684-1686)aCg>aGg	p.T562R	CTD-2194A8.2_ENST00000574654.1_RNA|CTD-2194A8.2_ENST00000575772.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	562					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.T562R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CTGCCAAAGACGGTTTCTGGA	0.448																																						uc002dhe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1684-1686)ACG>AGG		acyl-CoA synthetase medium-chain family member 5							38.0	38.0	38.0					16																	20451694		2203	4296	6499	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20451694C>G		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1685C>G	16.37:g.20451694C>G	ENSP00000327916:p.Thr562Arg						p.T562R	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			14	1832	+			562					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1685C>G	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747139	0.69418	.	.	ENSG00000183549	ENST00000331849	T	0.74209	-0.82	4.63	4.63	0.57726	.	0.104883	0.41938	N	0.000789	D	0.89805	0.6821	H	0.94925	3.6	0.46954	D	0.999261	D	0.89917	1.0	D	0.78314	0.991	D	0.92917	0.6352	10	0.87932	D	0	-7.7898	16.6159	0.84916	0.0:1.0:0.0:0.0	.	562	Q6NUN0	ACSM5_HUMAN	R	562	ENSP00000327916:T562R	ENSP00000327916:T562R	T	+	2	0	ACSM5	20359195	0.998000	0.40836	0.972000	0.41901	0.781000	0.44180	4.272000	0.58908	2.258000	0.74832	0.650000	0.86243	ACG		PASS	0.448	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		22	55	22	55	---	---	---	---
ADCY7	113	broad.mit.edu	37	16	50339494	50339494	+	Missense_Mutation	SNP	C	C	T	rs368965000		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr16:50339494C>T	ENST00000394697.2	+	13	2016	c.1676C>T	c.(1675-1677)aCg>aTg	p.T559M	ADCY7_ENST00000538642.1_Missense_Mutation_p.T559M|ADCY7_ENST00000254235.3_Missense_Mutation_p.T559M|ADCY7_ENST00000566433.2_Missense_Mutation_p.T559M|ADCY7_ENST00000537579.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	559					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.T559M(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		CTCAGCTCCACGAGGTGAGGT	0.607																																						uc002egd.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1675-1677)ACG>ATG		adenylate cyclase 7	Bromocriptine(DB01200)	C	MET/THR	0,4396		0,0,2198	146.0	133.0	137.0		1676	5.6	0.6	16		137	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADCY7	NM_001114.3	81	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	559/1081	50339494	1,12995	2198	4300	6498	SO:0001583	missense	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50339494C>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.1676C>T	16.37:g.50339494C>T	ENSP00000378187:p.Thr559Met					ADCY7_uc002egc.1_Missense_Mutation_p.T559M	p.T559M	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	12	1944	+		all_cancers(37;0.0127)	559			Cytoplasmic (Potential).		A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	c.1676C>T	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195491	0.78902	0.0	1.16E-4	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000254235	T;T;T	0.77229	-1.08;-1.08;-1.08	5.64	5.64	0.86602	.	0.498887	0.16513	U	0.211169	D	0.82518	0.5054	L	0.57536	1.79	0.80722	D	1	P;D	0.56521	0.907;0.976	P;P	0.52710	0.671;0.707	T	0.82583	-0.0385	10	0.52906	T	0.07	.	16.8438	0.85975	0.0:1.0:0.0:0.0	.	559;559	P51828;F5H4D1	ADCY7_HUMAN;.	M	559	ENSP00000445046:T559M;ENSP00000378187:T559M;ENSP00000254235:T559M	ENSP00000254235:T559M	T	+	2	0	ADCY7	48896995	0.055000	0.20627	0.603000	0.28903	0.916000	0.54674	2.897000	0.48664	2.646000	0.89796	0.591000	0.81541	ACG		PASS	0.607	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3			6	186	6	186	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77369733	77369733	+	Silent	SNP	G	G	T	rs559246837		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr16:77369733G>T	ENST00000282849.5	-	12	2197	c.1779C>A	c.(1777-1779)tcC>tcA	p.S593S		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	593	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S593S(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCGACCAGGCGGACCACTGGC	0.572																																						uc002ffc.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(1777-1779)TCC>TCA		ADAM metallopeptidase with thrombospondin type 1							145.0	150.0	148.0					16																	77369733		2198	4300	6498	SO:0001819	synonymous_variant	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77369733G>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1779C>A	16.37:g.77369733G>T						ADAMTS18_uc010chc.1_Silent_p.S181S|ADAMTS18_uc002ffe.1_Silent_p.S289S	p.S593S	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			12	2198	-			593			TSP type-1 1.		Q6P4R5|Q6ZWJ9	Silent	SNP	ENST00000282849.5	37	c.1779C>A	CCDS10926.1																																																																																				PASS	0.572	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			80	200	80	200	---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77397773	77397773	+	Missense_Mutation	SNP	G	G	T	rs376807442		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr16:77397773G>T	ENST00000282849.5	-	6	1400	c.982C>A	c.(982-984)Cta>Ata	p.L328I		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	328	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L328I(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCTTTAAATAGGCCAGAAACC	0.383																																						uc002ffc.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						c.(982-984)CTA>ATA		ADAM metallopeptidase with thrombospondin type 1							77.0	70.0	73.0					16																	77397773		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77397773G>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.982C>A	16.37:g.77397773G>T	ENSP00000282849:p.Leu328Ile					ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.L24I|ADAMTS18_uc010vni.1_RNA	p.L328I	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN			6	1401	-			328			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.982C>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.162352	0.57368	.	.	ENSG00000140873	ENST00000282849	T	0.61510	0.1	5.22	3.28	0.37604	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000001	T	0.62575	0.2439	L	0.33710	1.025	0.53005	D	0.999965	D	0.89917	1.0	D	0.91635	0.999	T	0.58463	-0.7632	10	0.35671	T	0.21	.	10.7434	0.46166	0.1521:0.0:0.8479:0.0	.	328	Q8TE60	ATS18_HUMAN	I	328	ENSP00000282849:L328I	ENSP00000282849:L328I	L	-	1	2	ADAMTS18	75955274	1.000000	0.71417	0.987000	0.45799	0.351000	0.29236	2.501000	0.45389	0.783000	0.33636	-0.145000	0.13849	CTA		PASS	0.383	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			25	67	25	67	---	---	---	---
MTHFSD	64779	broad.mit.edu	37	16	86565980	86565980	+	Silent	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr16:86565980C>T	ENST00000360900.6	-	8	814	c.789G>A	c.(787-789)ccG>ccA	p.P263P	MTHFSD_ENST00000546093.1_Silent_p.P100P|MTHFSD_ENST00000543303.2_Silent_p.P262P|MTHFSD_ENST00000381214.5_Silent_p.P263P|MTHFSD_ENST00000322911.6_Silent_p.P262P	NM_001159380.1	NP_001152852.1	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	263							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P263P(1)|p.P262P(1)		endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						AGCCTGGTTCCGGAAGGTGCT	0.637																																						uc002fjn.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(787-789)CCG>CCA		methenyltetrahydrofolate synthetase domain							12.0	15.0	14.0					16																	86565980		2018	4157	6175	SO:0001819	synonymous_variant	64779				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding	g.chr16:86565980C>T	AK023060	CCDS54047.1, CCDS54048.1, CCDS58490.1	16q24.1	2013-02-12				ENSG00000103248		"""RNA binding motif (RRM) containing"""	25778	protein-coding gene	gene with protein product						12477932	Standard	NM_022764		Approved	FLJ12998	uc010vor.2	Q2M296		ENST00000360900.6:c.789G>A	16.37:g.86565980C>T						MTHFSD_uc010voo.1_Silent_p.P243P|MTHFSD_uc002fjo.2_Silent_p.P100P|MTHFSD_uc002fjm.2_Silent_p.P262P|MTHFSD_uc010vop.1_Silent_p.P100P|MTHFSD_uc010voq.1_Silent_p.P262P|MTHFSD_uc010vor.1_Silent_p.P263P	p.P263P	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN			8	840	-			263					A8MQ77|B7ZLC0|B7ZLC2|D3DUM9|E9PAM1|Q9H878|Q9H954	Silent	SNP	ENST00000360900.6	37	c.789G>A	CCDS54047.1																																																																																				PASS	0.637	MTHFSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432182.1	NM_022764		3	9	3	9	---	---	---	---
USP6	9098	broad.mit.edu	37	17	5074150	5074150	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr17:5074150C>A	ENST00000574788.1	+	36	6124	c.3894C>A	c.(3892-3894)agC>agA	p.S1298R	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.S1298R|USP6_ENST00000304328.5_Missense_Mutation_p.S981R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1298	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)	p.S1298R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAGAAGACAGCACTGATGACC	0.418			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	COL1A1|CDH11|ZNF9|OMD		aneurysmal bone cysts		1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)	5						c.(3892-3894)AGC>AGA		ubiquitin specific protease 6							77.0	71.0	73.0					17																	5074150		2203	4297	6500	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5074150C>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3894C>A	17.37:g.5074150C>A	ENSP00000460380:p.Ser1298Arg					USP6_uc002gav.1_Missense_Mutation_p.S1298R|USP6_uc010ckz.1_Missense_Mutation_p.S981R	p.S1298R	NM_004505	NP_004496	P35125	UBP6_HUMAN			36	6124	+			1298					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.3894C>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931208	0.34096	.	.	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.13778	2.95;2.56	2.49	0.401	0.16338	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.303391	0.45606	D	0.000359	T	0.19406	0.0466	L	0.39898	1.24	0.34004	D	0.650631	P;D	0.58620	0.89;0.983	P;P	0.62649	0.549;0.905	T	0.18618	-1.0331	10	0.54805	T	0.06	.	6.1089	0.20090	0.0:0.6968:0.0:0.3032	.	981;1298	P35125-2;P35125	.;UBP6_HUMAN	R	1298;981	ENSP00000250066:S1298R;ENSP00000305473:S981R	ENSP00000250066:S1298R	S	+	3	2	USP6	5014874	0.004000	0.15560	0.999000	0.59377	0.494000	0.33585	0.072000	0.14617	0.382000	0.24878	0.184000	0.17185	AGC		PASS	0.418	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		4	115	4	115	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12656437	12656437	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr17:12656437A>G	ENST00000343344.4	+	10	1832	c.1832A>G	c.(1831-1833)aAt>aGt	p.N611S	MYOCD_ENST00000425538.1_Missense_Mutation_p.N611S|AC005358.1_ENST00000609971.1_Missense_Mutation_p.N515S|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	611					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.N611S(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCTCTTGGAAATGCTCATTGT	0.512																																						uc002gnn.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(1831-1833)AAT>AGT		myocardin isoform 2							121.0	130.0	127.0					17																	12656437		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12656437A>G	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1832A>G	17.37:g.12656437A>G	ENSP00000341835:p.Asn611Ser					MYOCD_uc002gno.2_Missense_Mutation_p.N611S|MYOCD_uc002gnp.1_Missense_Mutation_p.N515S|MYOCD_uc002gnq.2_Missense_Mutation_p.N330S	p.N611S	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	2131	+			611					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1832A>G	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	A	5.842	0.339655	0.11069	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.42131	0.98;1.0	4.85	-9.7	0.00521	.	1.396580	0.03772	N	0.259915	T	0.20292	0.0488	N	0.22421	0.69	0.09310	N	1	B;B;B;B	0.13145	0.001;0.002;0.007;0.003	B;B;B;B	0.14023	0.002;0.007;0.01;0.002	T	0.10894	-1.0610	10	0.11794	T	0.64	0.0062	4.4011	0.11386	0.2708:0.2105:0.422:0.0967	.	330;515;611;611	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	S	330;611;611;515;316	ENSP00000341835:N611S;ENSP00000400148:N316S	ENSP00000341835:N611S	N	+	2	0	MYOCD	12597162	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.071000	0.14594	-2.757000	0.00371	-1.093000	0.02169	AAT		PASS	0.512	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		10	194	10	194	---	---	---	---
SLC13A2	9058	broad.mit.edu	37	17	26817738	26817738	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr17:26817738C>A	ENST00000314669.5	+	4	808	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	SLC13A2_ENST00000537681.1_Missense_Mutation_p.L59M|SLC13A2_ENST00000444914.3_Missense_Mutation_p.L179M|SLC13A2_ENST00000545060.1_Missense_Mutation_p.L87M	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	130					dicarboxylic acid transport (GO:0006835)|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)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)	p.L130M(1)|p.L179M(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GGGCTTCATGCTGGTCACGGC	0.592																																						uc002hbh.2																			2	Substitution - Missense(2)		lung(2)		0						c.(388-390)CTG>ATG		solute carrier family 13, member 2 isoform b	Succinic acid(DB00139)						146.0	107.0	120.0					17																	26817738		2203	4300	6503	SO:0001583	missense	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26817738C>A	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.388C>A	17.37:g.26817738C>A	ENSP00000316202:p.Leu130Met					SLC13A2_uc010wal.1_Missense_Mutation_p.L87M|SLC13A2_uc010wam.1_Missense_Mutation_p.L86M|SLC13A2_uc010wan.1_Missense_Mutation_p.L179M|SLC13A2_uc010wao.1_Missense_Mutation_p.L87M|SLC13A2_uc002hbi.2_Missense_Mutation_p.L59M	p.L130M	NM_003984	NP_003975	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	4	455	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		130			Helical; (Potential).		B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Missense_Mutation	SNP	ENST00000314669.5	37	c.388C>A	CCDS11231.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.194198	0.38707	.	.	ENSG00000007216	ENST00000314669;ENST00000444914;ENST00000545060;ENST00000541739;ENST00000537681	T;T;T;T	0.03951	3.75;3.75;3.75;3.75	5.32	-10.6	0.00265	.	1.059080	0.07289	N	0.872078	T	0.03520	0.0101	L	0.59436	1.845	0.33924	D	0.641249	B;B;B;B;B	0.31274	0.317;0.099;0.075;0.05;0.075	B;B;B;B;B	0.29077	0.097;0.098;0.063;0.026;0.043	T	0.36915	-0.9728	10	0.26408	T	0.33	-13.1068	2.7524	0.05284	0.2481:0.2187:0.4214:0.1118	.	87;179;86;59;130	F5GWV6;E7ETH5;B4E1M6;G3V1L2;Q13183	.;.;.;.;S13A2_HUMAN	M	130;179;87;86;59	ENSP00000316202:L130M;ENSP00000392411:L179M;ENSP00000441935:L87M;ENSP00000440802:L59M	ENSP00000316202:L130M	L	+	1	2	SLC13A2	23841865	0.000000	0.05858	0.969000	0.41365	0.883000	0.51084	-3.416000	0.00478	-1.124000	0.02936	-0.175000	0.13238	CTG		PASS	0.592	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1	NM_003984		55	33	55	33	---	---	---	---
KRT222	125113	broad.mit.edu	37	17	38812817	38812817	+	Nonsense_Mutation	SNP	A	A	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr17:38812817A>T	ENST00000476049.1	-	6	766	c.725T>A	c.(724-726)tTg>tAg	p.L242*	KRT222_ENST00000394052.3_Nonsense_Mutation_p.L242*			Q8N1A0	KT222_HUMAN	keratin 222	242						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.L242*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						CTTTTTCCTCAATCGAGGGTT	0.343																																						uc002hvc.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(724-726)TTG>TAG		truncated type I keratin KA21							82.0	80.0	81.0					17																	38812817		2203	4300	6503	SO:0001587	stop_gained	125113					intermediate filament	structural molecule activity	g.chr17:38812817A>T	AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"""-"""	28695	protein-coding gene	gene with protein product			"""keratin 222 pseudogene"""	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.725T>A	17.37:g.38812817A>T	ENSP00000463483:p.Leu242*					KRT222_uc010wfk.1_RNA|KRT222_uc002hvb.2_Nonsense_Mutation_p.L202*	p.L242*	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN			6	790	-			242					Q7Z368	Nonsense_Mutation	SNP	ENST00000476049.1	37	c.725T>A	CCDS11371.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.040747	0.93685	.	.	ENSG00000213424	ENST00000394049;ENST00000394052	.	.	.	5.78	5.78	0.91487	.	0.393563	0.19895	U	0.103643	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1867	16.1095	0.81250	1.0:0.0:0.0:0.0	.	.	.	.	X	202;242	.	ENSP00000377613:L202X	L	-	2	0	KRT222	36066343	1.000000	0.71417	0.931000	0.37212	0.991000	0.79684	8.671000	0.91174	2.210000	0.71456	0.482000	0.46254	TTG		PASS	0.343	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000447539.1	NM_152349		67	52	67	52	---	---	---	---
NSF	4905	broad.mit.edu	37	17	44782198	44782198	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr17:44782198C>T	ENST00000398238.4	+	13	1555	c.1448C>T	c.(1447-1449)tCt>tTt	p.S483F	NSF_ENST00000225282.8_Missense_Mutation_p.S389F|NSF_ENST00000575068.1_Missense_Mutation_p.S478F	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	483					exocytosis (GO:0006887)|plasma membrane fusion (GO:0045026)|positive regulation of receptor recycling (GO:0001921)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|syntaxin-1 binding (GO:0017075)	p.S483F(1)		kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TTCCTTGCTTCTTTGGAGAAT	0.383																																					Ovarian(25;472 742 1472 36813 50223)	uc002iku.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1447-1449)TCT>TTT		vesicle-fusing ATPase							96.0	107.0	103.0					17																	44782198		1874	4120	5994	SO:0001583	missense	4905				protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	g.chr17:44782198C>T		CCDS42354.1	17q21	2010-04-21			ENSG00000073969	ENSG00000073969		"""ATPases / AAA-type"""	8016	protein-coding gene	gene with protein product	"""N-ethylmaleimide-sensitive factor-like protein"""	601633				1315316, 8875895	Standard	NM_006178		Approved	SKD2	uc002iku.3	P46459	OTTHUMG00000134315	ENST00000398238.4:c.1448C>T	17.37:g.44782198C>T	ENSP00000381293:p.Ser483Phe					NSF_uc010wke.1_Missense_Mutation_p.S389F|NSF_uc010wkf.1_Missense_Mutation_p.S389F|NSF_uc010wkg.1_Missense_Mutation_p.S478F	p.S483F	NM_006178	NP_006169	P46459	NSF_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)	13	1552	+		Melanoma(429;0.203)	483					A8K2D9|B4DFA2|Q8N6D7|Q9UKZ2	Missense_Mutation	SNP	ENST00000398238.4	37	c.1448C>T	CCDS42354.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575845	0.86645	.	.	ENSG00000073969	ENST00000398238;ENST00000225282	T;T	0.52057	0.68;0.68	4.96	4.96	0.65561	.	0.063315	0.64402	D	0.000003	T	0.64800	0.2631	M	0.80508	2.5	0.80722	D	1	D	0.54397	0.966	P	0.52710	0.707	T	0.72107	-0.4390	10	0.87932	D	0	-9.5933	18.5628	0.91107	0.0:1.0:0.0:0.0	.	483	P46459	NSF_HUMAN	F	483;389	ENSP00000381293:S483F;ENSP00000225282:S389F	ENSP00000225282:S389F	S	+	2	0	NSF	42137380	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.583000	0.82559	2.451000	0.82905	0.467000	0.42956	TCT		PASS	0.383	NSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259348.2	NM_006178		9	73	9	73	---	---	---	---
ABCC3	8714	broad.mit.edu	37	17	48753334	48753334	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr17:48753334G>C	ENST00000285238.8	+	22	3030	c.2950G>C	c.(2950-2952)Gct>Cct	p.A984P	ABCC3_ENST00000510891.1_3'UTR	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	984	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.A984P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	TCAAAGTGCGGCTGCCATTGG	0.567																																						uc002isl.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|central_nervous_system(1)	4						c.(2950-2952)GCT>CCT		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)						79.0	73.0	75.0					17																	48753334		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48753334G>C	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.2950G>C	17.37:g.48753334G>C	ENSP00000285238:p.Ala984Pro					ABCC3_uc002isn.2_5'Flank	p.A984P	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		22	3030	+			984			ABC transmembrane type-1 2.|Helical; Name=12; (By similarity).		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.2950G>C	CCDS32681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.122245|4.122245	0.77436|0.77436	.|.	.|.	ENSG00000108846|ENSG00000108846	ENST00000285238|ENST00000513745	D|.	0.95001|.	-3.58|.	5.88|5.88	3.85|3.85	0.44370|0.44370	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);|.	0.061251|.	0.64402|.	D|.	0.000004|.	D|D	0.85358|0.85358	0.5678|0.5678	H|H	0.96518|0.96518	3.835|3.835	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.77004|.	0.989|.	D|D	0.87630|0.87630	0.2515|0.2515	10|5	0.42905|.	T|.	0.14|.	-3.0964|-3.0964	11.0542|11.0542	0.47909|0.47909	0.0665:0.0:0.8043:0.1292|0.0665:0.0:0.8043:0.1292	.|.	984|.	O15438|.	MRP3_HUMAN|.	P|A	984|132	ENSP00000285238:A984P|.	ENSP00000285238:A984P|.	A|G	+|+	1|2	0|0	ABCC3|ABCC3	46108333|46108333	0.983000|0.983000	0.35010|0.35010	0.002000|0.002000	0.10522|0.10522	0.014000|0.014000	0.08584|0.08584	2.967000|2.967000	0.49216|0.49216	0.780000|0.780000	0.33566|0.33566	0.655000|0.655000	0.94253|0.94253	GCT|GGC		PASS	0.567	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		22	21	22	21	---	---	---	---
UTP18	51096	broad.mit.edu	37	17	49337958	49337958	+	Silent	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr17:49337958C>A	ENST00000225298.7	+	1	70	c.13C>A	c.(13-15)Cgg>Agg	p.R5R	MBTD1_ENST00000586178.1_5'Flank|MBTD1_ENST00000376381.2_5'Flank	NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	5					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R5R(1)		breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GCCGCCGGAGCGGAGGAGACG	0.701																																						uc002its.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(13-15)CGG>AGG		UTP18, small subunit processome component							15.0	19.0	18.0					17																	49337958		1880	4088	5968	SO:0001819	synonymous_variant	51096				rRNA processing	nucleolus		g.chr17:49337958C>A	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.13C>A	17.37:g.49337958C>A						MBTD1_uc002itr.3_5'Flank|MBTD1_uc002itq.3_5'Flank	p.R5R	NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.09e-07)		1	62	+			5					Q9H4N6	Silent	SNP	ENST00000225298.7	37	c.13C>A	CCDS42362.1																																																																																				PASS	0.701	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	NM_016001		15	11	15	11	---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56435317	56435317	+	Missense_Mutation	SNP	G	G	A	rs200066146		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr17:56435317G>A	ENST00000584437.1	-	8	3775	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L	RNF43_ENST00000500597.2_Missense_Mutation_p.S566L|RNF43_ENST00000407977.2_Missense_Mutation_p.S607L|RNF43_ENST00000581868.1_Missense_Mutation_p.S480L|RNF43_ENST00000577625.1_Missense_Mutation_p.S480L|RNF43_ENST00000583753.1_Missense_Mutation_p.S566L|RNF43_ENST00000577716.1_Missense_Mutation_p.S607L|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	607	Pro-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S607L(2)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGCCGCCCCGAAGGGGCTGC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		14248	0.001		0.0	False		,,,				2504	0.0					uc002iwf.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(1)	1						c.(1819-1821)TCG>TTG		ring finger protein 43 precursor							52.0	64.0	60.0					17																	56435317		2197	4292	6489	SO:0001583	missense	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435317G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1820C>T	17.37:g.56435317G>A	ENSP00000463069:p.Ser607Leu					RNF43_uc010wnv.1_Missense_Mutation_p.S566L|RNF43_uc002iwh.3_Missense_Mutation_p.S607L|RNF43_uc002iwg.3_Missense_Mutation_p.S607L|RNF43_uc010dcw.2_Missense_Mutation_p.S480L	p.S607L	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN			8	3776	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		607			Pro-rich.|Cytoplasmic (Potential).		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Missense_Mutation	SNP	ENST00000584437.1	37	c.1820C>T	CCDS11607.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	9.960	1.222639	0.22457	.	.	ENSG00000108375	ENST00000407977;ENST00000500597	T;T	0.19250	2.16;2.16	5.45	4.48	0.54585	.	0.797881	0.11396	N	0.568346	T	0.16342	0.0393	L	0.27053	0.805	0.09310	N	1	B;B;B	0.18310	0.007;0.027;0.004	B;B;B	0.12837	0.002;0.008;0.001	T	0.16630	-1.0396	10	0.51188	T	0.08	-7.2722	9.977	0.41791	0.0939:0.0:0.9061:0.0	.	566;607;607	Q68DV7-2;Q68DV7-4;Q68DV7	.;.;RNF43_HUMAN	L	607;566	ENSP00000385328:S607L;ENSP00000441969:S566L	ENSP00000385328:S607L	S	-	2	0	RNF43	53790316	0.002000	0.14202	0.077000	0.20336	0.177000	0.22998	1.155000	0.31700	1.309000	0.44985	0.205000	0.17691	TCG		PASS	0.647	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		13	151	13	151	---	---	---	---
SDK2	54549	broad.mit.edu	37	17	71391524	71391524	+	Missense_Mutation	SNP	G	G	A	rs200100217	byFrequency	TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr17:71391524G>A	ENST00000392650.3	-	25	3362	c.3362C>T	c.(3361-3363)cCg>cTg	p.P1121L	SDK2_ENST00000388726.3_Missense_Mutation_p.P1121L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1121	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.P1121L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TTCCATCTCCGGGAGAGGCTG	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		18796	0.002		0.0	False		,,,				2504	0.0					uc010dfm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3361-3363)CCG>CTG		sidekick 2							49.0	44.0	46.0					17																	71391524		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71391524G>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3362C>T	17.37:g.71391524G>A	ENSP00000376421:p.Pro1121Leu					SDK2_uc002jjt.3_Missense_Mutation_p.P280L|SDK2_uc010dfn.2_Missense_Mutation_p.P800L	p.P1121L	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			25	3362	-			1121			Extracellular (Potential).|Fibronectin type-III 6.		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.3362C>T	CCDS45769.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	14.65	2.599547	0.46318	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.74315	-0.83;-0.83;-0.83	5.32	5.32	0.75619	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.055564	0.64402	D	0.000001	T	0.71676	0.3368	M	0.67700	2.07	0.80722	D	1	B;B;B	0.26258	0.117;0.145;0.119	B;B;B	0.23275	0.043;0.045;0.027	T	0.71248	-0.4649	10	0.54805	T	0.06	.	12.8055	0.57612	0.0851:0.0:0.9149:0.0	.	1121;1121;1121	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	L	745;1121;1121;297;1121	ENSP00000376421:P1121L;ENSP00000373378:P1121L;ENSP00000407098:P297L	ENSP00000324967:P1121L	P	-	2	0	SDK2	68903119	1.000000	0.71417	0.984000	0.44739	0.720000	0.41350	5.362000	0.66098	2.492000	0.84095	0.561000	0.74099	CCG		PASS	0.632	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		13	57	13	57	---	---	---	---
UNC13D	201294	broad.mit.edu	37	17	73827393	73827393	+	Silent	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr17:73827393C>T	ENST00000207549.4	-	26	2863	c.2484G>A	c.(2482-2484)gtG>gtA	p.V828V	UNC13D_ENST00000412096.2_Silent_p.V828V	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	828	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)		p.V828V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTCCACCAGCACTGTGAGTG	0.652									Familial Hemophagocytic Lymphohistiocytosis																													uc002jpp.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(2482-2484)GTG>GTA		unc-13 homolog D							36.0	40.0	39.0					17																	73827393		2203	4300	6503	SO:0001819	synonymous_variant	201294	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	g.chr17:73827393C>T	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.2484G>A	17.37:g.73827393C>T						UNC13D_uc010wsk.1_Silent_p.V828V|UNC13D_uc002jpq.1_3'UTR	p.V828V	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)		26	2864	-			828			MHD2.		B4DWG9|Q9H7K5	Silent	SNP	ENST00000207549.4	37	c.2484G>A	CCDS11730.1																																																																																				PASS	0.652	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950		10	39	10	39	---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47527731	47527731	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr18:47527731T>C	ENST00000285039.7	-	5	805	c.506A>G	c.(505-507)aAg>aGg	p.K169R		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	169	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.K169R(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGATACCGTCTTCCCGGCTCC	0.522																																						uc002leb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|central_nervous_system(1)	5						c.(505-507)AAG>AGG		myosin VB							128.0	123.0	125.0					18																	47527731		1925	4133	6058	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47527731T>C	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.506A>G	18.37:g.47527731T>C	ENSP00000285039:p.Lys169Arg					MYO5B_uc002lec.1_Missense_Mutation_p.K168R	p.K169R	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	5	794	-			169			Myosin head-like.|ATP (Potential).		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.506A>G	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.905714	0.92107	.	.	ENSG00000167306	ENST00000285039;ENST00000356732	D	0.99961	-9.26	5.3	5.3	0.74995	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.99967	0.9988	H	0.98005	4.125	0.80722	D	1	D;D	0.67145	0.965;0.996	D;D	0.74023	0.967;0.982	D	0.96428	0.9317	10	0.87932	D	0	.	14.0949	0.65013	0.0:0.0:0.0:1.0	.	168;169	Q7Z7A5;Q9ULV0	.;MYO5B_HUMAN	R	169;168	ENSP00000285039:K169R	ENSP00000285039:K169R	K	-	2	0	MYO5B	45781729	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.997000	0.88414	1.989000	0.58080	0.533000	0.62120	AAG		PASS	0.522	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			3	165	3	165	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50589827	50589827	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr18:50589827G>T	ENST00000442544.2	+	6	1754	c.1138G>T	c.(1138-1140)Gtg>Ttg	p.V380L	DCC_ENST00000412726.1_Missense_Mutation_p.V228L|DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.V35L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	380	Ig-like C2-type 4.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.V380L(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TTTTCAGATAGTGGTAATTAT	0.313																																						uc002lfe.1																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(1138-1140)GTG>TTG		netrin receptor DCC precursor							173.0	154.0	160.0					18																	50589827		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50589827G>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1138G>T	18.37:g.50589827G>T	ENSP00000389140:p.Val380Leu					DCC_uc010xdr.1_Missense_Mutation_p.V228L|DCC_uc010dpf.1_Missense_Mutation_p.V35L	p.V380L	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	6	1725	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	380			Extracellular (Potential).|Ig-like C2-type 4.			Missense_Mutation	SNP	ENST00000442544.2	37	c.1138G>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499679	0.44455	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.66815	-0.23;-0.23	5.95	5.95	0.96441	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000002	T	0.66458	0.2791	N	0.20610	0.595	0.41053	D	0.98531	B;P;P	0.40083	0.174;0.465;0.702	B;B;P	0.49361	0.167;0.273;0.608	T	0.69807	-0.5045	10	0.87932	D	0	.	19.1527	0.93495	0.0:0.0:1.0:0.0	.	228;228;380	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	L	380;313;228	ENSP00000389140:V380L;ENSP00000397322:V228L	ENSP00000304146:V313L	V	+	1	0	DCC	48843825	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.075000	0.57584	2.821000	0.97095	0.650000	0.86243	GTG		PASS	0.313	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		51	63	51	63	---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64235678	64235678	+	Silent	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr18:64235678G>T	ENST00000540086.1	-	3	711	c.465C>A	c.(463-465)gcC>gcA	p.A155A	CDH19_ENST00000262150.2_Silent_p.A155A	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	262	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A155A(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTGGTACAATGGCCTCATAAG	0.363																																						uc002lkc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(463-465)GCC>GCA		cadherin 19, type 2 preproprotein							125.0	125.0	125.0					18																	64235678		2203	4299	6502	SO:0001819	synonymous_variant	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64235678G>T	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.465C>A	18.37:g.64235678G>T						CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Silent_p.A155A|CDH19_uc002lkd.2_Silent_p.A155A	p.A155A	NM_021153	NP_066976	Q9H159	CAD19_HUMAN			3	603	-		Esophageal squamous(42;0.0132)	155			Cadherin 2.|Extracellular (Potential).		O15098	Silent	SNP	ENST00000540086.1	37	c.465C>A	CCDS59325.1																																																																																				PASS	0.363	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		19	107	19	107	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65179558	65179558	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr18:65179558C>A	ENST00000310045.7	-	2	3791	c.2318G>T	c.(2317-2319)aGg>aTg	p.R773M	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	763					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.R773M(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GAAAATAATCCTATCATGTCT	0.383																																						uc002lke.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(2317-2319)AGG>ATG		dermatan sulfate epimerase-like							48.0	51.0	50.0					18																	65179558		2202	4300	6502	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179558C>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2318G>T	18.37:g.65179558C>A	ENSP00000310565:p.Arg773Met						p.R773M	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	3542	-		Esophageal squamous(42;0.129)	763					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.2318G>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	3.124	-0.179924	0.06380	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.18174	2.23	4.98	3.17	0.36434	.	0.416075	0.25642	U	0.029271	T	0.13286	0.0322	L	0.40543	1.245	0.09310	N	1	B	0.19445	0.036	B	0.23574	0.047	T	0.23547	-1.0185	10	0.66056	D	0.02	.	5.0011	0.14264	0.1467:0.6137:0.0:0.2395	.	763	Q8IZU8	DSEL_HUMAN	M	773;763	ENSP00000310565:R773M	ENSP00000310565:R773M	R	-	2	0	DSEL	63330538	0.000000	0.05858	0.094000	0.20943	0.675000	0.39556	0.160000	0.16462	0.492000	0.27815	0.455000	0.32223	AGG		PASS	0.383	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		10	100	10	100	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74620433	74620433	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr18:74620433G>A	ENST00000253159.8	+	14	2647	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K	ZNF236_ENST00000320610.9_Missense_Mutation_p.E819K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	817					cellular response to glucose stimulus (GO:0071333)|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.E817K(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGCGAACCCCGAGGCCATGCT	0.627																																						uc002lmi.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(2449-2451)GAG>AAG		zinc finger protein 236							50.0	58.0	55.0					18																	74620433		2098	4209	6307	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74620433G>A	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2449G>A	18.37:g.74620433G>A	ENSP00000253159:p.Glu817Lys					ZNF236_uc002lmj.2_RNA	p.E817K	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	14	2647	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	817					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.2449G>A	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050232	0.36181	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.10960	2.82;2.99	5.06	5.06	0.68205	.	0.381264	0.26460	N	0.024252	T	0.09992	0.0245	L	0.44542	1.39	0.33851	D	0.632585	B	0.27971	0.196	B	0.19666	0.026	T	0.12915	-1.0529	10	0.13108	T	0.6	.	15.4104	0.74914	0.0:0.1494:0.8506:0.0	.	817	Q9UL36	ZN236_HUMAN	K	817	ENSP00000253159:E817K;ENSP00000444524:E817K	ENSP00000253159:E817K	E	+	1	0	ZNF236	72749421	0.940000	0.31905	0.006000	0.13384	0.252000	0.25951	2.947000	0.49058	2.505000	0.84491	0.563000	0.77884	GAG		PASS	0.627	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			5	60	5	60	---	---	---	---
FUT5	2527	broad.mit.edu	37	19	5867525	5867525	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr19:5867525G>T	ENST00000588525.1	-	2	299	c.212C>A	c.(211-213)cCt>cAt	p.P71H	FUT5_ENST00000252675.5_Missense_Mutation_p.P71H	NM_002034.2	NP_002025.2	Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	71					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.P71H(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GGGGTGGGCAGGGGTCGCCAT	0.667																																						uc002mdo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(211-213)CCT>CAT		fucosyltransferase 5							37.0	39.0	38.0					19																	5867525		2203	4299	6502	SO:0001583	missense	2527				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity	g.chr19:5867525G>T		CCDS12154.1	19p13.3	2013-02-26				ENSG00000130383	2.4.1.65	"""Fucosyltransferases"""	4016	protein-coding gene	gene with protein product		136835				1740457	Standard	NM_002034		Approved	FUC-TV	uc002mdo.4	Q11128	OTTHUMG00000180616	ENST00000588525.1:c.212C>A	19.37:g.5867525G>T	ENSP00000466880:p.Pro71His					FUT5_uc010duo.2_Missense_Mutation_p.P71H	p.P71H	NM_002034	NP_002025	Q11128	FUT5_HUMAN			2	300	-			71			Lumenal (Potential).		A8K4X2	Missense_Mutation	SNP	ENST00000588525.1	37	c.212C>A	CCDS12154.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.012032	0.35511	.	.	ENSG00000130383	ENST00000252675	T	0.27256	1.68	2.57	-0.492	0.12041	.	.	.	.	.	T	0.40767	0.1130	L	0.59436	1.845	0.09310	N	1	D	0.55385	0.971	D	0.65443	0.935	T	0.24083	-1.0170	9	0.62326	D	0.03	.	8.9568	0.35823	0.0:0.7014:0.2986:0.0	.	71	Q11128	FUT5_HUMAN	H	71	ENSP00000252675:P71H	ENSP00000252675:P71H	P	-	2	0	FUT5	5818525	0.641000	0.27251	0.000000	0.03702	0.029000	0.11900	1.504000	0.35726	0.313000	0.23062	0.407000	0.27541	CCT		PASS	0.667	FUT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452213.1	NM_002034		10	75	10	75	---	---	---	---
CLEC4M	10332	broad.mit.edu	37	19	7831639	7831639	+	Silent	SNP	C	C	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr19:7831639C>G	ENST00000327325.5	+	5	1000	c.882C>G	c.(880-882)acC>acG	p.T294T	CLEC4M_ENST00000248228.4_Silent_p.T272T|CLEC4M_ENST00000595496.1_Silent_p.T158T|CLEC4M_ENST00000597522.1_Silent_p.T202T|CLEC4M_ENST00000596363.1_Silent_p.T266T|CLEC4M_ENST00000357361.2_Silent_p.T294T|CLEC4M_ENST00000359059.5_Silent_p.T227T|CLEC4M_ENST00000334806.5_Silent_p.T243T|CLEC4M_ENST00000596707.1_Silent_p.T227T|CLEC4M_ENST00000394122.2_Silent_p.T282T	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	294	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)	p.T294T(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						ACTCCGTCACCGCCTGCCAGG	0.592																																						uc002mih.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(811-813)ACC>ACG		C-type lectin domain family 4, member M isoform							94.0	86.0	88.0					19																	7831639		2203	4300	6503	SO:0001819	synonymous_variant	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7831639C>G	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		ENST00000327325.5:c.882C>G	19.37:g.7831639C>G						CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc010xjw.1_Silent_p.T227T|CLEC4M_uc010dvt.2_Silent_p.T248T|CLEC4M_uc010dvs.2_Silent_p.T270T|CLEC4M_uc010xjx.1_Silent_p.T243T|CLEC4M_uc002mhz.2_Silent_p.T202T|CLEC4M_uc002mic.2_Silent_p.T266T|CLEC4M_uc002mia.2_Silent_p.T158T	p.T271T	NM_001144910	NP_001138382	Q9H2X3	CLC4M_HUMAN			6	931	+			294			Extracellular (Probable).|C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Silent	SNP	ENST00000327325.5	37	c.813C>G	CCDS12187.1																																																																																				PASS	0.592	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	NM_014257		34	84	34	84	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9003659	9003659	+	Silent	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr19:9003659G>T	ENST00000397910.4	-	49	40184	c.39981C>A	c.(39979-39981)ctC>ctA	p.L13327L	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13329	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L12L(1)|p.L13327L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTAAAATTGAGGGTGAATG	0.473																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(39979-39981)CTC>CTA		mucin 16							219.0	180.0	193.0					19																	9003659		2016	4183	6199	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9003659G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.39981C>A	19.37:g.9003659G>T						MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.L144L|MUC16_uc010xki.1_Intron	p.L13327L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			49	40185	-			13329			Extracellular (Potential).|SEA 9.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.39981C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	0.185	-1.058460	0.01950	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.07	0.523	0.17060	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.6538	3.0893	0.06289	0.1525:0.0:0.5861:0.2614	.	.	.	.	X	167	.	.	S	-	2	0	MUC16	8864659	0.737000	0.28175	0.743000	0.31040	0.023000	0.10783	-0.366000	0.07563	0.567000	0.29293	0.455000	0.32223	TCA		PASS	0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		55	110	55	110	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10602310	10602310	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr19:10602310C>A	ENST00000171111.5	-	3	1815	c.1268G>T	c.(1267-1269)gGc>gTc	p.G423V	KEAP1_ENST00000588024.1_5'Flank|CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000393623.2_Missense_Mutation_p.G423V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	423					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.G423V(2)		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)	ATAGATGTGGCCATCGATGAC	0.667																																						uc002moq.1																			2	Substitution - Missense(2)		lung(2)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(1267-1269)GGC>GTC		kelch-like ECH-associated protein 1							29.0	26.0	27.0					19																	10602310		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602310C>A	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.1268G>T	19.37:g.10602310C>A	ENSP00000171111:p.Gly423Val					KEAP1_uc002mop.1_Missense_Mutation_p.G141V|KEAP1_uc002mor.1_Missense_Mutation_p.G423V	p.G423V	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	1424	-			423			Kelch 2.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.1268G>T	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328147	0.81690	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	D;D	0.82619	-1.63;-1.63	5.77	4.72	0.59763	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.92024	0.7473	H	0.96691	3.865	0.80722	D	1	D	0.65815	0.995	P	0.53954	0.738	D	0.94230	0.7475	10	0.87932	D	0	.	13.8772	0.63660	0.1538:0.8462:0.0:0.0	.	423	Q14145	KEAP1_HUMAN	V	423	ENSP00000171111:G423V;ENSP00000377245:G423V	ENSP00000171111:G423V	G	-	2	0	KEAP1	10463310	0.998000	0.40836	0.994000	0.49952	0.956000	0.61745	3.948000	0.56660	1.431000	0.47355	0.655000	0.94253	GGC		PASS	0.667	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		5	4	5	4	---	---	---	---
NANOS3	342977	broad.mit.edu	37	19	13985806	13985806	+	5'Flank	SNP	G	G	T	rs538571642	byFrequency	TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr19:13985806G>T	ENST00000397555.2	+	0	0				NANOS3_ENST00000591727.1_Intron|MIR181D_ENST00000384853.1_RNA|NANOS3_ENST00000339133.5_5'Flank|MIR181C_ENST00000384881.1_RNA	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)						germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGCCAGACACGGCTTAAGGGG	0.587																																						hsa-mir-181d|MI0003139																			0					0															48.0	51.0	50.0					19																	13985806		1568	3582	5150	SO:0001631	upstream_gene_variant	574457							g.chr19:13985806G>T	BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323			19.37:g.13985806G>T	Exception_encountered					NANOS3_uc002mxj.3_5'Flank										+								Q495E5	RNA	SNP	ENST00000397555.2	37	c.118G>T																																																																																					PASS	0.587	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_292819		19	30	19	30	---	---	---	---
CYP4F12	66002	broad.mit.edu	37	19	15807756	15807756	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr19:15807756A>C	ENST00000550308.1	+	13	1816	c.1436A>C	c.(1435-1437)aAa>aCa	p.K479T	CYP4F12_ENST00000324632.10_Missense_Mutation_p.K479T	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	479					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)	p.K479T(1)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GCGGAGATGAAAGTGGTCCTG	0.627																																						uc002nbl.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1435-1437)AAA>ACA		cytochrome P450, family 4, subfamily F,							49.0	47.0	48.0					19																	15807756		2203	4300	6503	SO:0001583	missense	66002							g.chr19:15807756A>C	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1436A>C	19.37:g.15807756A>C	ENSP00000448998:p.Lys479Thr						p.K479T	NM_023944	NP_076433					13	1497	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.1436A>C	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	11.22	1.575317	0.28092	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.71222	-0.55;-0.55	2.31	2.31	0.28768	.	0.091853	0.43110	U	0.000618	T	0.81744	0.4887	M	0.87180	2.865	0.44359	D	0.997254	P	0.50066	0.931	P	0.61397	0.888	T	0.83015	-0.0170	10	0.87932	D	0	.	8.4933	0.33112	1.0:0.0:0.0:0.0	.	479	Q9HCS2	CP4FC_HUMAN	T	479	ENSP00000448998:K479T;ENSP00000321821:K479T	ENSP00000321821:K479T	K	+	2	0	CYP4F12	15668756	1.000000	0.71417	0.881000	0.34555	0.007000	0.05969	4.481000	0.60250	1.308000	0.44962	0.260000	0.18958	AAA		PASS	0.627	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			26	30	26	30	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	31038928	31038928	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr19:31038928A>C	ENST00000355537.3	+	4	2549	c.2402A>C	c.(2401-2403)cAc>cCc	p.H801P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	801					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.H801P(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTAGAGCGACACCATCGGGAG	0.517																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(2401-2403)CAC>CCC		zinc finger protein 536							68.0	73.0	72.0					19																	31038928		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31038928A>C		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2402A>C	19.37:g.31038928A>C	ENSP00000347730:p.His801Pro					ZNF536_uc010edd.1_Missense_Mutation_p.H801P	p.H801P	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	2540	+	Esophageal squamous(110;0.0834)		801			C2H2-type 9.		A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2402A>C	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	A	17.04	3.287830	0.59976	.	.	ENSG00000198597	ENST00000355537	D	0.88975	-2.45	5.98	5.98	0.97165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.91513	0.7320	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.92600	0.6090	10	0.87932	D	0	-36.9448	16.4578	0.84025	1.0:0.0:0.0:0.0	.	801;801	A7E228;O15090	.;ZN536_HUMAN	P	801	ENSP00000347730:H801P	ENSP00000347730:H801P	H	+	2	0	ZNF536	35730768	1.000000	0.71417	0.993000	0.49108	0.892000	0.51952	8.954000	0.93051	2.288000	0.76882	0.482000	0.46254	CAC		PASS	0.517	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		53	67	53	67	---	---	---	---
WTIP	126374	broad.mit.edu	37	19	34981323	34981323	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr19:34981323A>T	ENST00000590071.2	+	2	1047	c.710A>T	c.(709-711)cAg>cTg	p.Q237L	WTIP_ENST00000270288.6_Missense_Mutation_p.Q461L	NM_001080436.1	NP_001073905.1	A6NIX2	WTIP_HUMAN	Wilms tumor 1 interacting protein	237	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cytoskeleton organization (GO:0007010)|gene silencing by miRNA (GO:0035195)|negative regulation of hippo signaling (GO:0035331)|positive regulation of gene silencing by miRNA (GO:2000637)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.Q237L(1)		NS(1)|large_intestine(2)|lung(1)	4	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGAGCCCAGCAGGCGTGCCAG	0.592																																						uc002nvm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(709-711)CAG>CTG		Wilms tumor 1 interacting protein							107.0	109.0	108.0					19																	34981323		2159	4242	6401	SO:0001583	missense	126374							g.chr19:34981323A>T	AK130059	CCDS59375.1	19q13.11	2012-03-16			ENSG00000142279	ENSG00000142279			20964	protein-coding gene	gene with protein product	"""WT1-interacting protein"""	614790				14736876	Standard	NM_001080436		Approved		uc002nvm.3	A6NIX2		ENST00000590071.2:c.710A>T	19.37:g.34981323A>T	ENSP00000466953:p.Gln237Leu						p.Q237L	NM_001080436	NP_001073905			LUSC - Lung squamous cell carcinoma(66;0.211)		2	710	+	all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162)								Missense_Mutation	SNP	ENST00000590071.2	37	c.710A>T	CCDS59375.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.009820	0.75046	.	.	ENSG00000142279	ENST00000270288	D	0.85861	-2.04	5.14	5.14	0.70334	Zinc finger, LIM-type (4);	0.064498	0.64402	D	0.000006	D	0.84051	0.5387	N	0.25031	0.7	0.80722	D	1	P	0.46064	0.872	P	0.54499	0.754	D	0.85596	0.1249	10	0.54805	T	0.06	.	14.0752	0.64887	1.0:0.0:0.0:0.0	.	461	A6NIX2	WTIP_HUMAN	L	461	ENSP00000270288:Q461L	ENSP00000270288:Q461L	Q	+	2	0	WTIP	39673163	1.000000	0.71417	0.996000	0.52242	0.553000	0.35397	8.306000	0.89962	2.169000	0.68431	0.459000	0.35465	CAG		PASS	0.592	WTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459381.3	XM_059037		11	106	11	106	---	---	---	---
FFAR2	2867	broad.mit.edu	37	19	35940862	35940862	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr19:35940862C>A	ENST00000599180.2	+	2	326	c.246C>A	c.(244-246)tgC>tgA	p.C82*	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Nonsense_Mutation_p.C82*			O15552	FFAR2_HUMAN	free fatty acid receptor 2	82					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.C82*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGGTCGTCTGCGCCCTCACGA	0.627																																					GBM(40;139 809 9833 23358 48736)	uc002nzg.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(244-246)TGC>TGA		free fatty acid receptor 2							57.0	46.0	49.0					19																	35940862		2203	4300	6503	SO:0001587	stop_gained	2867					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35940862C>A	AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.246C>A	19.37:g.35940862C>A	ENSP00000473159:p.Cys82*					FFAR2_uc010eea.2_Nonsense_Mutation_p.C82*	p.C82*	NM_005306	NP_005297	O15552	FFAR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	326	+	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		82			Extracellular (Potential).		B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Nonsense_Mutation	SNP	ENST00000599180.2	37	c.246C>A	CCDS12461.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.801060	0.31869	.	.	ENSG00000126262	ENST00000246549	.	.	.	5.58	-5.8	0.02347	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-32.9696	22.0759	0.99966	0.0:0.9126:0.0:0.0874	.	.	.	.	X	82	.	ENSP00000246549:C82X	C	+	3	2	FFAR2	40632702	0.244000	0.23889	0.026000	0.17262	0.004000	0.04260	-0.086000	0.11233	-1.476000	0.01874	-1.134000	0.01955	TGC		PASS	0.627	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3	NM_005306		4	33	4	33	---	---	---	---
SPTBN4	57731	broad.mit.edu	37	19	41077929	41077929	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr19:41077929T>G	ENST00000352632.3	+	34	7410	c.7324T>G	c.(7324-7326)Tgg>Ggg	p.W2442G	SPTBN4_ENST00000392025.1_Missense_Mutation_p.W1185G|SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000598249.1_Missense_Mutation_p.W2442G			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2442	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				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.W2442G(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)			CTCCAGGTCGTGGGTGAGCCT	0.567																																						uc002ony.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(7324-7326)TGG>GGG		spectrin, beta, non-erythrocytic 4 isoform							237.0	251.0	246.0					19																	41077929		2203	4300	6503	SO:0001583	missense	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.chr19:41077929T>G	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.7324T>G	19.37:g.41077929T>G	ENSP00000263373:p.Trp2442Gly					SPTBN4_uc002onz.2_Missense_Mutation_p.W2442G|SPTBN4_uc010egx.2_Missense_Mutation_p.W1185G	p.W2442G	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		34	7410	+			2442			PH.		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	ENST00000352632.3	37	c.7324T>G	CCDS12559.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.125876	0.77436	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000392025	D;D	0.84800	-1.9;-1.9	5.1	5.1	0.69264	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.197760	0.35525	U	0.003143	D	0.93779	0.8011	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.998;0.998	D	0.95065	0.8199	10	0.87932	D	0	.	13.9858	0.64334	0.0:0.0:0.0:1.0	.	1185;2442	C9JY79;Q9H254	.;SPTN4_HUMAN	G	2442;2442;1185	ENSP00000263373:W2442G;ENSP00000375879:W1185G	ENSP00000263373:W2442G	W	+	1	0	SPTBN4	45769769	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.750000	0.85110	2.145000	0.66743	0.460000	0.39030	TGG		PASS	0.567	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2			10	640	10	640	---	---	---	---
ZNF235	9310	broad.mit.edu	37	19	44792290	44792290	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr19:44792290C>T	ENST00000291182.4	-	5	1400	c.1298G>A	c.(1297-1299)tGt>tAt	p.C433Y	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	433					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.C433Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				ACAATCCCCACATTTATATGG	0.418																																						uc002oza.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1297-1299)TGT>TAT		zinc finger protein 93 homolog							88.0	88.0	88.0					19																	44792290		2203	4300	6503	SO:0001583	missense	9310				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44792290C>T	X78929	CCDS33048.1	19q13.2	2013-01-08	2002-11-04	2002-11-08	ENSG00000159917	ENSG00000159917		"""Zinc fingers, C2H2-type"", ""-"""	12866	protein-coding gene	gene with protein product		604749	"""zinc finger protein homologous to Zfp93 in mouse"""	ZNF270, ZFP93		7865130, 9570955	Standard	NM_004234		Approved	HZF6, ANF270	uc002oza.4	Q14590		ENST00000291182.4:c.1298G>A	19.37:g.44792290C>T	ENSP00000291182:p.Cys433Tyr					ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.C429Y|ZNF235_uc010xwx.1_Missense_Mutation_p.C347Y	p.C433Y	NM_004234	NP_004225	Q14590	ZN235_HUMAN			5	1401	-		Prostate(69;0.0352)|all_neural(266;0.116)	433			C2H2-type 6.		B4DTQ7|O14898|O14899|Q17RR8	Missense_Mutation	SNP	ENST00000291182.4	37	c.1298G>A	CCDS33048.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|C	16.46|16.46	3.129829|3.129829	0.56721|0.56721	.|.	.|.	ENSG00000159917|ENSG00000159917	ENST00000359844|ENST00000391957;ENST00000291182	.|D	.|0.85088	.|-1.94	4.37|4.37	4.37|4.37	0.52481|0.52481	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.46145	.|D	.|0.000311	.|D	.|0.95178	.|0.8437	H|H	0.97732|0.97732	4.065|4.065	0.43598|0.43598	D|D	0.995953|0.995953	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	.|D	.|0.96990	.|0.9721	.|10	.|0.87932	.|D	.|0	.|.	16.5558|16.5558	0.84484|0.84484	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|429;433	.|Q14590-2;Q14590	.|.;ZN235_HUMAN	.|Y	-1|433	.|ENSP00000291182:C433Y	.|ENSP00000291182:C433Y	.|C	-|-	.|2	.|0	ZNF235|ZNF235	49484130|49484130	1.000000|1.000000	0.71417|0.71417	0.096000|0.096000	0.21009|0.21009	0.916000|0.916000	0.54674|0.54674	4.582000|4.582000	0.60957|0.60957	2.385000|2.385000	0.81259|0.81259	0.462000|0.462000	0.41574|0.41574	.|TGT		PASS	0.418	ZNF235-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460732.1			4	98	4	98	---	---	---	---
SULT2A1	6822	broad.mit.edu	37	19	48389461	48389461	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr19:48389461G>C	ENST00000222002.3	-	1	193	c.54C>G	c.(52-54)ttC>ttG	p.F18L		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	18					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)	p.F18L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	TTTCGGATCTGAAACCCATAG	0.428																																						uc002phr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(52-54)TTC>TTG		bile-salt sulfotransferase 2A1							230.0	195.0	207.0					19																	48389461		2203	4300	6503	SO:0001583	missense	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48389461G>C	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.54C>G	19.37:g.48389461G>C	ENSP00000222002:p.Phe18Leu						p.F18L	NM_003167	NP_003158	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	1	194	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	18						Missense_Mutation	SNP	ENST00000222002.3	37	c.54C>G	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418487	0.25552	.	.	ENSG00000105398	ENST00000222002	T	0.01388	4.95	4.07	-3.85	0.04243	.	.	.	.	.	T	0.00784	0.0026	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.46331	-0.9199	9	0.35671	T	0.21	.	4.325	0.11036	0.2646:0.0:0.2048:0.5305	.	18	Q06520	ST2A1_HUMAN	L	18	ENSP00000222002:F18L	ENSP00000222002:F18L	F	-	3	2	SULT2A1	53081273	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.115000	0.10741	-0.424000	0.07382	-0.165000	0.13383	TTC		PASS	0.428	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		75	87	75	87	---	---	---	---
CCDC114	93233	broad.mit.edu	37	19	48800667	48800667	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr19:48800667C>T	ENST00000315396.7	-	14	2261	c.1579G>A	c.(1579-1581)Ggc>Agc	p.G527S		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	527					outer dynein arm assembly (GO:0036158)	cilium (GO:0005929)|outer dynein arm (GO:0036157)		p.G320S(1)|p.G527S(1)		cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GTACTGGAGCCGGCCCTCTGG	0.697																																						uc002pir.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1579-1581)GGC>AGC		coiled-coil domain containing 114 isoform 2							26.0	31.0	29.0					19																	48800667		2195	4282	6477	SO:0001583	missense	93233							g.chr19:48800667C>T	BC025752	CCDS12714.2	19q13.32	2013-02-22			ENSG00000105479	ENSG00000105479			26560	protein-coding gene	gene with protein product		615038				23261302, 23261303	Standard	NM_144577		Approved	FLJ32926, CILD20	uc002pir.2	Q96M63	OTTHUMG00000156161	ENST00000315396.7:c.1579G>A	19.37:g.48800667C>T	ENSP00000318429:p.Gly527Ser					CCDC114_uc002piq.2_Missense_Mutation_p.G336S|CCDC114_uc002pio.2_3'UTR	p.G527S	NM_144577	NP_653178	Q96M63	CC114_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)	14	2262	-		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)	527					Q6ZRL4|Q96M06|Q9UFG8	Missense_Mutation	SNP	ENST00000315396.7	37	c.1579G>A	CCDS12714.2	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.387306	0.01194	.	.	ENSG00000105479	ENST00000315396	T	0.19394	2.15	2.1	-1.58	0.08479	.	.	.	.	.	T	0.07007	0.0178	N	0.04203	-0.255	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.38394	-0.9663	9	0.16896	T	0.51	0.6078	2.9809	0.05953	0.0:0.3749:0.2615:0.3636	.	527	Q96M63	CC114_HUMAN	S	527	ENSP00000318429:G527S	ENSP00000318429:G527S	G	-	1	0	CCDC114	53492479	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.121000	0.03270	-0.507000	0.06549	-0.367000	0.07326	GGC		PASS	0.697	CCDC114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343207.1	NM_144577		3	69	3	69	---	---	---	---
FPR3	2359	broad.mit.edu	37	19	52327500	52327500	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr19:52327500A>G	ENST00000339223.4	+	2	678	c.499A>G	c.(499-501)Ata>Gta	p.I167V	FPR3_ENST00000595991.1_Missense_Mutation_p.I167V	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	167					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)	p.I167V(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTGGACTACAATAAGTACTAC	0.458																																						uc002pxt.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(1)|skin(1)	6						c.(499-501)ATA>GTA		formyl peptide receptor-like 2							159.0	145.0	150.0					19																	52327500		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327500A>G		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.499A>G	19.37:g.52327500A>G	ENSP00000341821:p.Ile167Val						p.I167V	NM_002030	NP_002021	P25089	FPR3_HUMAN			2	683	+			167			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000339223.4	37	c.499A>G	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.182536	0.00308	.	.	ENSG00000187474	ENST00000339223	T	0.36699	1.24	2.27	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	13.490000	0.00166	N	0.000001	T	0.12220	0.0297	N	0.01410	-0.885	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38650	-0.9651	10	0.02654	T	1	.	4.8911	0.13728	0.1914:0.0:0.8086:0.0	.	167	P25089	FPR3_HUMAN	V	167	ENSP00000341821:I167V	ENSP00000341821:I167V	I	+	1	0	FPR3	57019312	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.368000	0.20399	0.302000	0.22762	-0.516000	0.04426	ATA		PASS	0.458	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030		53	121	53	121	---	---	---	---
ZNF578	147660	broad.mit.edu	37	19	53007938	53007938	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr19:53007938G>C	ENST00000421239.2	+	5	338	c.94G>C	c.(94-96)Gaa>Caa	p.E32Q		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	32	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.E32K(1)|p.E32Q(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGTGGCTATAGAATTCTCATT	0.448																																						uc002pzp.3																			2	Substitution - Missense(2)		cervix(1)|lung(1)		0						c.(94-96)GAA>CAA		zinc finger protein 578							114.0	125.0	121.0					19																	53007938		2203	4299	6502	SO:0001583	missense	147660				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53007938G>C	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.94G>C	19.37:g.53007938G>C	ENSP00000459216:p.Glu32Gln						p.E32Q	NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN		GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)	5	338	+			Error:Variant_position_missing_in_Q96N58_after_alignment					B4DR51|I3L1Y6	Missense_Mutation	SNP	ENST00000421239.2	37	c.94G>C	CCDS54310.1	.	.	.	.	.	.	.	.	.	.	-	9.325	1.059092	0.19987	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.35	1.35	0.21983	.	.	.	.	.	T	0.57227	0.2039	M	0.91249	3.19	0.20703	N	0.999861	P	0.40578	0.722	B	0.42916	0.402	T	0.54070	-0.8348	7	.	.	.	.	7.7487	0.28883	0.0:0.0:1.0:0.0	.	32	G3V4F6	.	Q	32	.	.	E	+	1	0	ZNF578	57699750	0.237000	0.23815	0.682000	0.30024	0.046000	0.14306	1.102000	0.31050	0.729000	0.32403	0.306000	0.20318	GAA		PASS	0.448	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472		17	142	17	142	---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55085379	55085379	+	Splice_Site	SNP	G	G	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr19:55085379G>C	ENST00000251377.3	+	2	167	c.34G>C	c.(34-36)Ggg>Cgg	p.G12R	LILRA2_ENST00000251376.3_Splice_Site_p.G12R|LILRA2_ENST00000391737.1_Splice_Site_p.G12R|LILRB1_ENST00000418536.2_Splice_Site_p.G12R|LILRA2_ENST00000391738.3_Splice_Site_p.G12R|LILRB1_ENST00000396321.2_Splice_Site_p.G12R|LILRA2_ENST00000495786.1_Intron|LILRB1_ENST00000448689.1_Splice_Site_p.G12R			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	12					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.G12R(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GATCTGTCTCGGTGAGATTTG	0.602																																						uc002qgg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(34-36)GGG>CGG		leukocyte immunoglobulin-like receptor,							143.0	120.0	128.0					19																	55085379		2203	4300	6503	SO:0001630	splice_region_variant	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55085379G>C	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.34+1G>C	19.37:g.55085379G>C						LILRA2_uc010ern.2_Missense_Mutation_p.G12R|LILRA2_uc002qgf.2_Missense_Mutation_p.G12R|LILRA2_uc010yfe.1_Missense_Mutation_p.G12R|LILRA2_uc010yff.1_Missense_Mutation_p.G12R|LILRA2_uc010ero.2_Missense_Mutation_p.G12R|LILRA2_uc010yfg.1_Missense_Mutation_p.G12R	p.G12R	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	1	123	+			12					O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.34G>C	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971722	0.34754	.	.	ENSG00000239998;ENSG00000239998;ENSG00000239998;ENSG00000239998;ENSG00000239998;ENSG00000104972;ENSG00000104972;ENSG00000104972	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737;ENST00000396321;ENST00000418536;ENST00000448689	T;T;T;T;T;T;T;T	0.00594	6.77;6.69;6.69;6.64;6.33;6.78;6.83;6.65	2.69	0.345	0.16011	.	0.324362	0.22175	N	0.063581	T	0.02571	0.0078	M	0.92367	3.3	0.09310	N	0.999998	P;P;D;B;B	0.67145	0.894;0.825;0.996;0.254;0.397	P;P;D;B;B	0.72982	0.558;0.474;0.979;0.202;0.367	T	0.32348	-0.9910	10	0.72032	D	0.01	.	3.9074	0.09188	0.1516:0.2505:0.5979:0.0	.	12;12;12;12;12	Q99702;E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;.;LIRA2_HUMAN;.	R	12	ENSP00000388131:G12R;ENSP00000251377:G12R;ENSP00000375618:G12R;ENSP00000251376:G12R;ENSP00000375617:G12R;ENSP00000379614:G12R;ENSP00000391514:G12R;ENSP00000409968:G12R	ENSP00000251376:G12R	G	+	1	0	LILRB1;LILRA2	59777191	0.343000	0.24818	0.019000	0.16419	0.008000	0.06430	0.241000	0.18065	0.037000	0.15575	0.508000	0.49915	GGG		PASS	0.602	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2		Missense_Mutation	69	80	69	80	---	---	---	---
NCR1	9437	broad.mit.edu	37	19	55418050	55418050	+	Silent	SNP	A	A	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr19:55418050A>G	ENST00000291890.4	+	3	278	c.240A>G	c.(238-240)aaA>aaG	p.K80K	NCR1_ENST00000598576.1_Silent_p.K68K|NCR1_ENST00000357397.5_Intron|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000594765.1_Silent_p.K80K|NCR1_ENST00000338835.5_Silent_p.K80K|NCR1_ENST00000447255.1_Silent_p.K80K	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	80	Ig-like 1.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)	p.K80K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GGATTAACAAAGTCAAATTCT	0.522																																						uc002qib.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(238-240)AAA>AAG		natural cytotoxicity triggering receptor 1							72.0	75.0	74.0					19																	55418050		2203	4300	6503	SO:0001819	synonymous_variant	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55418050A>G	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.240A>G	19.37:g.55418050A>G						NCR1_uc002qic.2_Silent_p.K80K|NCR1_uc002qie.2_Silent_p.K80K|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron	p.K80K	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	3	278	+			80			Ig-like 1.|Extracellular (Potential).		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Silent	SNP	ENST00000291890.4	37	c.240A>G	CCDS12911.1																																																																																				PASS	0.522	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			6	88	6	88	---	---	---	---
NSFL1C	55968	broad.mit.edu	37	20	1435635	1435635	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr20:1435635G>C	ENST00000216879.4	-	4	1288	c.421C>G	c.(421-423)Cct>Gct	p.P141A	NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Missense_Mutation_p.P30A|NSFL1C_ENST00000476071.1_Missense_Mutation_p.P143A|NSFL1C_ENST00000350991.4_Missense_Mutation_p.P143A|NSFL1C_ENST00000353088.2_Missense_Mutation_p.P141A	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	141						chromosome (GO:0005694)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.P141A(1)		breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GTCTCTCCAGGGCTCTTGGTC	0.532																																						uc002wfc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(421-423)CCT>GCT		p47 protein isoform a							190.0	187.0	188.0					20																	1435635		2203	4300	6503	SO:0001583	missense	55968					chromosome|Golgi stack|nucleus	lipid binding|protein binding	g.chr20:1435635G>C	AF112211	CCDS13015.1, CCDS13016.1, CCDS56175.1	20p13	2011-06-28			ENSG00000088833	ENSG00000088833		"""UBX domain containing"""	15912	protein-coding gene	gene with protein product	"""SHP1 homolog (S. cerevisiae)"", ""UBX domain protein 2C"""	606610				11042152	Standard	NM_016143		Approved	dJ776F14.1, p47, UBXD10, UBX1, UBXN2C	uc002wfc.3	Q9UNZ2	OTTHUMG00000031665	ENST00000216879.4:c.421C>G	20.37:g.1435635G>C	ENSP00000216879:p.Pro141Ala					NSFL1C_uc002wfd.2_Missense_Mutation_p.P30A|NSFL1C_uc002wfe.2_Missense_Mutation_p.P141A|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_5'Flank	p.P141A	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN			4	1369	-			141					A2A2L1|B2RD74|Q5JXA4|Q5JXA5|Q7Z533|Q9H102|Q9NVL9|Q9UI06	Missense_Mutation	SNP	ENST00000216879.4	37	c.421C>G	CCDS13015.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615638	0.46631	.	.	ENSG00000088833	ENST00000353088;ENST00000476071;ENST00000216879;ENST00000381658;ENST00000350991	T;T;T;T;T	0.50001	0.76;0.94;0.94;0.99;0.95	5.0	5.0	0.66597	.	0.176756	0.50627	D	0.000102	T	0.43787	0.1263	M	0.69823	2.125	0.35133	D	0.768184	B;B;B	0.27068	0.006;0.167;0.104	B;B;B	0.31101	0.014;0.124;0.022	T	0.44251	-0.9340	10	0.08599	T	0.76	-9.0168	10.3727	0.44064	0.0:0.144:0.7071:0.1489	.	141;30;141	Q9UNZ2-4;Q9UNZ2-6;Q9UNZ2	.;.;NSF1C_HUMAN	A	141;143;141;30;143	ENSP00000338643:P141A;ENSP00000418529:P143A;ENSP00000216879:P141A;ENSP00000371074:P30A;ENSP00000202584:P143A	ENSP00000216879:P141A	P	-	1	0	NSFL1C	1383635	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.870000	0.48451	2.758000	0.94735	0.655000	0.94253	CCT		PASS	0.532	NSFL1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077525.2	NM_016143		89	295	89	295	---	---	---	---
ACSS1	84532	broad.mit.edu	37	20	24988512	24988512	+	Missense_Mutation	SNP	G	G	C	rs201971518		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr20:24988512G>C	ENST00000323482.4	-	14	2035	c.1956C>G	c.(1954-1956)atC>atG	p.I652M	ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000537502.1_Missense_Mutation_p.I569M|ACSS1_ENST00000542618.1_Missense_Mutation_p.I531M|ACSS1_ENST00000484396.1_5'UTR	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	652					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.I652M(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTCACTAGTGATGATCTTCC	0.557																																						uc002wub.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1954-1956)ATC>ATG		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						114.0	96.0	102.0					20																	24988512		2203	4300	6503	SO:0001583	missense	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:24988512G>C		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1956C>G	20.37:g.24988512G>C	ENSP00000316924:p.Ile652Met					ACSS1_uc002wuc.2_Missense_Mutation_p.I650M|ACSS1_uc010gdc.2_Missense_Mutation_p.I447M|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.I569M	p.I652M	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN			14	2834	-			652					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	c.1956C>G	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432625	0.25813	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000542618	T;T;T	0.50001	0.76;0.76;0.76	5.78	2.71	0.32032	.	0.731345	0.13714	N	0.367866	T	0.38532	0.1044	L	0.31371	0.925	0.21782	N	0.999547	B;P;P;P	0.48834	0.427;0.824;0.854;0.916	B;B;P;P	0.45681	0.373;0.358;0.49;0.49	T	0.17471	-1.0368	10	0.87932	D	0	-34.0296	7.8535	0.29468	0.1488:0.1349:0.7163:0.0	.	447;650;652;569	E9PC79;Q9NUB1-2;Q9NUB1;Q6ZV30	.;.;ACS2L_HUMAN;.	M	652;447;569;531	ENSP00000316924:I652M;ENSP00000439304:I569M;ENSP00000437657:I531M	ENSP00000316924:I652M	I	-	3	3	ACSS1	24936512	0.935000	0.31712	0.049000	0.19019	0.030000	0.12068	0.912000	0.28597	0.744000	0.32741	0.655000	0.94253	ATC		PASS	0.557	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		16	141	16	141	---	---	---	---
KIAA1755	85449	broad.mit.edu	37	20	36870243	36870243	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr20:36870243G>T	ENST00000279024.4	-	3	561	c.290C>A	c.(289-291)cCt>cAt	p.P97H		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	97								p.P97H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CAATAAGAGAGGGTTGAGGGG	0.562																																						uc002xhy.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(289-291)CCT>CAT		hypothetical protein LOC85449							72.0	70.0	71.0					20																	36870243		2203	4300	6503	SO:0001583	missense	85449							g.chr20:36870243G>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.290C>A	20.37:g.36870243G>T	ENSP00000279024:p.Pro97His					KIAA1755_uc002xhz.1_Missense_Mutation_p.P97H	p.P97H	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			3	562	-		Myeloproliferative disorder(115;0.00874)	97					Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	c.290C>A	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.011359	0.54468	.	.	ENSG00000149633	ENST00000279024	T	0.08008	3.14	5.71	4.7	0.59300	.	0.405610	0.21260	N	0.077490	T	0.27278	0.0669	M	0.71581	2.175	0.49051	D	0.999748	D	0.89917	1.0	D	0.69142	0.962	T	0.00420	-1.1750	10	0.66056	D	0.02	.	15.2882	0.73846	0.0:0.1401:0.8599:0.0	.	97	Q5JYT7	K1755_HUMAN	H	97	ENSP00000279024:P97H	ENSP00000279024:P97H	P	-	2	0	KIAA1755	36303657	1.000000	0.71417	0.703000	0.30354	0.086000	0.17979	6.579000	0.74036	2.691000	0.91804	0.561000	0.74099	CCT		PASS	0.562	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		17	207	17	207	---	---	---	---
CHD6	84181	broad.mit.edu	37	20	40080585	40080585	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr20:40080585C>T	ENST00000373233.3	-	22	3581	c.3404G>A	c.(3403-3405)cGt>cAt	p.R1135H	CHD6_ENST00000309279.7_Missense_Mutation_p.R618H	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1135					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)	p.R1135H(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAGGAGGGCACGGCAAATCAT	0.517																																						uc002xka.1																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(3403-3405)CGT>CAT		chromodomain helicase DNA binding protein 6							198.0	161.0	174.0					20																	40080585		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40080585C>T	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.3404G>A	20.37:g.40080585C>T	ENSP00000362330:p.Arg1135His						p.R1135H	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			22	3582	-		Myeloproliferative disorder(115;0.00425)	1135					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.3404G>A	CCDS13317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.655897|5.655897	0.96724|0.96724	.|.	.|.	ENSG00000124177|ENSG00000124177	ENST00000373233;ENST00000309279|ENST00000440697	D;D|.	0.89270|.	-2.49;-2.49|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.000000|.	0.56097|.	D|.	0.000032|.	D|D	0.83617|0.83617	0.5293|0.5293	M|M	0.86268|0.86268	2.805|2.805	0.40133|0.40133	D|D	0.976745|0.976745	D|.	0.89917|.	1.0|.	D|.	0.81914|.	0.995|.	D|D	0.84811|0.84811	0.0790|0.0790	10|5	0.37606|.	T|.	0.19|.	-14.5265|-14.5265	20.0435|20.0435	0.97601|0.97601	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1135|.	Q8TD26|.	CHD6_HUMAN|.	H|M	1135;618|321	ENSP00000362330:R1135H;ENSP00000308684:R618H|.	ENSP00000308684:R618H|.	R|V	-|-	2|1	0|0	CHD6|CHD6	39513999|39513999	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	7.776000|7.776000	0.85560|0.85560	2.731000|2.731000	0.93534|0.93534	0.650000|0.650000	0.86243|0.86243	CGT|GTG		PASS	0.517	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			4	186	4	186	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61537362	61537362	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr20:61537362T>C	ENST00000266070.4	-	6	1790	c.1465A>G	c.(1465-1467)Agt>Ggt	p.S489G	DIDO1_ENST00000370366.1_Missense_Mutation_p.S489G|DIDO1_ENST00000395340.1_Missense_Mutation_p.S489G|DIDO1_ENST00000395343.1_Missense_Mutation_p.S489G|DIDO1_ENST00000395335.2_Missense_Mutation_p.S489G|DIDO1_ENST00000370368.1_Missense_Mutation_p.S489G|DIDO1_ENST00000354665.4_Missense_Mutation_p.S489G|DIDO1_ENST00000370371.4_Missense_Mutation_p.S489G|DIDO1_ENST00000266071.5_Missense_Mutation_p.S489G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	489					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S489G(2)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGTGCTTCACTCCGCGCAGGG	0.517																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(3)	6						c.(1465-1467)AGT>GGT		death inducer-obliterator 1 isoform c							129.0	129.0	129.0					20																	61537362		2203	4300	6503	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61537362T>C	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1465A>G	20.37:g.61537362T>C	ENSP00000266070:p.Ser489Gly					DIDO1_uc002yds.1_Missense_Mutation_p.S489G|DIDO1_uc002ydt.1_Missense_Mutation_p.S489G|DIDO1_uc002ydu.1_Missense_Mutation_p.S489G|DIDO1_uc002ydv.1_Missense_Mutation_p.S489G|DIDO1_uc002ydw.1_Missense_Mutation_p.S489G|DIDO1_uc002ydx.1_Missense_Mutation_p.S489G|DIDO1_uc011aao.1_Missense_Mutation_p.S489G	p.S489G	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			6	1729	-	Breast(26;5.68e-08)		489					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.1465A>G	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	T	8.807	0.934371	0.18206	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.18502	3.03;3.03;2.68;2.68;2.21;2.21;2.21;2.22;2.22	5.85	3.56	0.40772	.	0.538685	0.15387	U	0.265009	T	0.17619	0.0423	L	0.60455	1.87	0.30405	N	0.779623	B;B;B;B	0.12013	0.005;0.005;0.002;0.001	B;B;B;B	0.06405	0.002;0.002;0.001;0.001	T	0.08785	-1.0705	10	0.54805	T	0.06	-11.3622	7.9917	0.30244	0.0:0.2334:0.0:0.7666	.	489;489;489;489	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	G	489	ENSP00000266070:S489G;ENSP00000378752:S489G;ENSP00000378749:S489G;ENSP00000378744:S489G;ENSP00000359397:S489G;ENSP00000359394:S489G;ENSP00000346692:S489G;ENSP00000359391:S489G;ENSP00000266071:S489G	ENSP00000266070:S489G	S	-	1	0	DIDO1	61007807	0.941000	0.31946	0.034000	0.17996	0.007000	0.05969	2.131000	0.42074	0.464000	0.27142	0.533000	0.62120	AGT		PASS	0.517	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		50	184	50	184	---	---	---	---
PTK6	5753	broad.mit.edu	37	20	62165629	62165629	+	Missense_Mutation	SNP	C	C	G	rs370344358		TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr20:62165629C>G	ENST00000217185.2	-	3	419	c.392G>C	c.(391-393)cGg>cCg	p.R131P	PTK6_ENST00000542869.1_Missense_Mutation_p.R30P	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	131	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.R131L(1)|p.R131P(1)		endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	CCCGGCACGCCGCCAGATCTT	0.692																																						uc002yfg.2																			2	Substitution - Missense(2)	p.R131L(1)	stomach(1)|lung(1)	stomach(1)|kidney(1)	2						c.(391-393)CGG>CCG		PTK6 protein tyrosine kinase 6							20.0	21.0	21.0					20																	62165629		2201	4295	6496	SO:0001583	missense	5753					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62165629C>G	U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"""SH2 domain containing"""	9617	protein-coding gene	gene with protein product		602004	"""PTK6 protein tyrosine kinase 6"""			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.392G>C	20.37:g.62165629C>G	ENSP00000217185:p.Arg131Pro					PTK6_uc011aay.1_Missense_Mutation_p.R30P|PTK6_uc011aaz.1_5'Flank|PTK6_uc011aba.1_3'UTR	p.R131P	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		3	432	-	all_cancers(38;2.51e-11)		131			SH2.		B2RCR3|B4DW46|Q58F01	Missense_Mutation	SNP	ENST00000217185.2	37	c.392G>C	CCDS13524.1	.	.	.	.	.	.	.	.	.	.	c	12.06	1.824274	0.32237	.	.	ENSG00000101213	ENST00000217185;ENST00000542869	D;T	0.88975	-2.45;1.68	4.06	0.785	0.18584	SH2 motif (5);	1.415140	0.06168	U	0.677218	D	0.87136	0.6102	L	0.47016	1.485	0.09310	N	1	P	0.50819	0.939	P	0.47827	0.558	T	0.74768	-0.3553	10	0.72032	D	0.01	.	5.6743	0.17739	0.163:0.6563:0.0:0.1807	.	131	Q13882	PTK6_HUMAN	P	131;30	ENSP00000217185:R131P;ENSP00000442460:R30P	ENSP00000217185:R131P	R	-	2	0	PTK6	61636073	0.000000	0.05858	0.006000	0.13384	0.041000	0.13682	-1.114000	0.03293	-0.123000	0.11745	0.306000	0.20318	CGG		PASS	0.692	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080313.1			4	26	4	26	---	---	---	---
HLCS	3141	broad.mit.edu	37	21	38311131	38311131	+	Splice_Site	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr21:38311131C>T	ENST00000399120.1	-	4	1283		c.e4+1		HLCS_ENST00000336648.4_Splice_Site	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)						biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AAGTTACTTACACACAATCTT	0.488																																						uc010gnb.2																			1	Unknown(1)		lung(1)	ovary(2)|breast(1)|kidney(1)|liver(1)	5						c.e3+1		holocarboxylase synthetase	Biotin(DB00121)						157.0	131.0	140.0					21																	38311131		2203	4300	6503	SO:0001630	splice_region_variant	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38311131C>T		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.52+1G>A	21.37:g.38311131C>T						HLCS_uc002yvs.2_Splice_Site_p.S18_splice|HLCS_uc010gnc.1_Splice_Site_p.S165_splice	p.S18_splice	NM_000411	NP_000402	P50747	BPL1_HUMAN			3	1253	-		Myeloproliferative disorder(46;0.0422)						B2RAH1|D3DSG6|Q99451	Splice_Site	SNP	ENST00000399120.1	37	c.52_splice	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	C	19.81	3.895696	0.72639	.	.	ENSG00000159267	ENST00000399120;ENST00000336648;ENST00000448340;ENST00000419461;ENST00000427746	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0455	0.86501	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HLCS	37233001	1.000000	0.71417	0.992000	0.48379	0.745000	0.42441	7.238000	0.78173	2.561000	0.86390	0.563000	0.77884	.		PASS	0.488	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2		Intron	39	55	39	55	---	---	---	---
GGT5	2687	broad.mit.edu	37	22	24620982	24620982	+	Silent	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr22:24620982G>A	ENST00000327365.4	-	11	2012	c.1596C>T	c.(1594-1596)taC>taT	p.Y532Y	GGT5_ENST00000263112.7_Silent_p.Y500Y|GGT5_ENST00000418439.2_Silent_p.Y456Y|GGT5_ENST00000398292.3_Silent_p.Y533Y	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	532					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.Y532Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						AGTTGGGCTCGTACTCCACAC	0.607																																						uc002zzo.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1594-1596)TAC>TAT		gamma-glutamyltransferase 5 isoform b							40.0	30.0	33.0					22																	24620982		2203	4300	6503	SO:0001819	synonymous_variant	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24620982G>A	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1596C>T	22.37:g.24620982G>A						GGT5_uc002zzp.3_Silent_p.Y533Y|GGT5_uc002zzr.3_Silent_p.Y500Y|GGT5_uc002zzq.3_Silent_p.Y500Y|GGT5_uc011ajm.1_Silent_p.Y456Y	p.Y532Y	NM_004121	NP_004112	P36269	GGT5_HUMAN			11	2013	-			532			Extracellular (Potential).		Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Silent	SNP	ENST00000327365.4	37	c.1596C>T	CCDS13825.1	.	.	.	.	.	.	.	.	.	.	G	2.116	-0.402535	0.04865	.	.	ENSG00000099998	ENST00000425408	.	.	.	4.54	-7.6	0.01303	.	.	.	.	.	T	0.59528	0.2200	.	.	.	0.54753	D	0.999983	.	.	.	.	.	.	T	0.64622	-0.6364	4	.	.	.	-9.1577	13.9435	0.64071	0.8345:0.0:0.1655:0.0	.	.	.	.	M	135	.	.	T	-	2	0	GGT5	22950982	0.002000	0.14202	0.001000	0.08648	0.020000	0.10135	-1.699000	0.01906	-1.434000	0.01975	-1.225000	0.01585	ACG		PASS	0.607	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		4	29	4	29	---	---	---	---
GGT5	2687	broad.mit.edu	37	22	24621612	24621612	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr22:24621612G>A	ENST00000327365.4	-	9	1654	c.1238C>T	c.(1237-1239)gCg>gTg	p.A413V	GGT5_ENST00000263112.7_Missense_Mutation_p.A381V|GGT5_ENST00000418439.2_Missense_Mutation_p.A336V|GGT5_ENST00000398292.3_Missense_Mutation_p.A413V	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	413					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|inflammatory response (GO:0006954)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.A413V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						ATACACCATCGCTCCAAAGCT	0.627																																						uc002zzo.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1237-1239)GCG>GTG		gamma-glutamyltransferase 5 isoform b							58.0	46.0	50.0					22																	24621612		2203	4300	6503	SO:0001583	missense	2687				glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	g.chr22:24621612G>A	M64099	CCDS13825.1, CCDS42989.1, CCDS42990.1	22q11.23	2008-03-25	2008-03-10	2008-03-10	ENSG00000099998	ENSG00000099998		"""Gamma-glutamyltransferases"""	4260	protein-coding gene	gene with protein product		137168	"""gamma-glutamyltransferase-like activity 1"""	GGTLA1		1676842, 8095916, 18357469	Standard	NM_004121		Approved	GGT-REL	uc002zzp.4	P36269	OTTHUMG00000150796	ENST00000327365.4:c.1238C>T	22.37:g.24621612G>A	ENSP00000330080:p.Ala413Val					GGT5_uc002zzp.3_Missense_Mutation_p.A413V|GGT5_uc002zzr.3_Missense_Mutation_p.A381V|GGT5_uc002zzq.3_Missense_Mutation_p.A381V|GGT5_uc011ajm.1_Missense_Mutation_p.A336V	p.A413V	NM_004121	NP_004112	P36269	GGT5_HUMAN			9	1655	-			413			Extracellular (Potential).		Q53XM9|Q6GMP0|Q96FC1|Q9UFM5	Missense_Mutation	SNP	ENST00000327365.4	37	c.1238C>T	CCDS13825.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.09|17.09	3.301176|3.301176	0.60195|0.60195	.|.	.|.	ENSG00000099998|ENSG00000099998	ENST00000327365;ENST00000263112;ENST00000438024;ENST00000398292;ENST00000418439|ENST00000425408	T;T;T;T|.	0.09350|.	2.99;2.99;2.99;2.99|.	4.5|4.5	4.5|4.5	0.54988|0.54988	.|.	0.373783|.	0.29730|.	N|.	0.011346|.	T|.	0.61236|.	0.2331|.	M|M	0.76838|0.76838	2.35|2.35	0.09310|0.09310	N|N	1|1	D;D;D;D;D|.	0.76494|.	0.999;0.989;0.98;0.977;0.98|.	D;P;P;P;P|.	0.68039|.	0.955;0.746;0.835;0.701;0.835|.	T|.	0.55198|.	-0.8178|.	10|.	0.72032|.	D|.	0.01|.	-23.9792|-23.9792	13.1173|13.1173	0.59307|0.59307	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	336;381;413;413;413|.	E7EUG3;P36269-2;Q53XM9;Q6GMP0;P36269|.	.;.;.;.;GGT5_HUMAN|.	V|X	413;381;328;413;336|16	ENSP00000330080:A413V;ENSP00000263112:A381V;ENSP00000381340:A413V;ENSP00000392146:A336V|.	ENSP00000263112:A381V|.	A|R	-|-	2|1	0|2	GGT5|GGT5	22951612|22951612	0.850000|0.850000	0.29656|0.29656	0.075000|0.075000	0.20258|0.20258	0.840000|0.840000	0.47671|0.47671	4.748000|4.748000	0.62148|0.62148	2.242000|2.242000	0.73789|0.73789	0.555000|0.555000	0.69702|0.69702	GCG|CGA		PASS	0.627	GGT5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320119.1	NM_004121		4	44	4	44	---	---	---	---
PIWIL3	440822	broad.mit.edu	37	22	25145726	25145726	+	Nonsense_Mutation	SNP	T	T	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr22:25145726T>A	ENST00000332271.5	-	10	1566	c.1150A>T	c.(1150-1152)Aaa>Taa	p.K384*	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Nonsense_Mutation_p.K275*|PIWIL3_ENST00000527701.1_Nonsense_Mutation_p.K275*	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	384	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)	p.K384*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGGCCCTTTTTCCATCTGCCC	0.468																																						uc003abd.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1150-1152)AAA>TAA		piwi-like 3							152.0	119.0	130.0					22																	25145726		2203	4300	6503	SO:0001587	stop_gained	440822				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding	g.chr22:25145726T>A	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1150A>T	22.37:g.25145726T>A	ENSP00000330031:p.Lys384*					PIWIL3_uc011ajx.1_Nonsense_Mutation_p.K275*|PIWIL3_uc011ajy.1_Nonsense_Mutation_p.K275*|PIWIL3_uc010gut.1_Nonsense_Mutation_p.K384*	p.K384*	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN			10	1567	-			384			PAZ.			Nonsense_Mutation	SNP	ENST00000332271.5	37	c.1150A>T	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	T	39	7.677102	0.98428	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	.	.	.	2.29	2.29	0.28610	.	0.112637	0.64402	U	0.000017	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.8695	4.0564	0.09818	0.0:0.171:0.0:0.8289	.	.	.	.	X	384;275;275	.	ENSP00000330031:K384X	K	-	1	0	PIWIL3	23475726	0.999000	0.42202	0.814000	0.32528	0.281000	0.26958	1.282000	0.33226	1.318000	0.45170	0.260000	0.18958	AAA		PASS	0.468	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496		10	68	10	68	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26164833	26164833	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr22:26164833A>T	ENST00000407587.2	+	4	1119	c.950A>T	c.(949-951)aAg>aTg	p.K317M	MYO18B_ENST00000536101.1_Missense_Mutation_p.K317M|MYO18B_ENST00000335473.7_Missense_Mutation_p.K317M			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	317						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.K317M(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTGGGAGAAAGTGGGGAGGT	0.532																																						uc003abz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(949-951)AAG>ATG		myosin XVIIIB							29.0	30.0	29.0					22																	26164833		1950	4144	6094	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26164833A>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.950A>T	22.37:g.26164833A>T	ENSP00000386096:p.Lys317Met					MYO18B_uc003aca.1_Missense_Mutation_p.K198M|MYO18B_uc010guy.1_Missense_Mutation_p.K198M|MYO18B_uc010guz.1_Missense_Mutation_p.K198M|MYO18B_uc011aka.1_Translation_Start_Site|MYO18B_uc011akb.1_5'Flank	p.K317M	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			4	1200	+			317					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.950A>T		.	.	.	.	.	.	.	.	.	.	a	11.85	1.762936	0.31228	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.89196	-2.46;-2.46;-2.48	4.45	1.2	0.21068	.	0.917063	0.09019	N	0.860414	D	0.88220	0.6378	L	0.27053	0.805	0.26776	N	0.96971	D;D;D	0.71674	0.997;0.998;0.998	P;P;P	0.60473	0.754;0.875;0.875	T	0.77531	-0.2553	10	0.87932	D	0	.	7.6284	0.28226	0.76:0.0:0.24:0.0	.	317;317;317	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	M	317	ENSP00000441229:K317M;ENSP00000334563:K317M;ENSP00000386096:K317M	ENSP00000334563:K317M	K	+	2	0	MYO18B	24494833	0.957000	0.32711	0.618000	0.29105	0.022000	0.10575	0.261000	0.18442	-0.007000	0.14345	0.398000	0.26397	AAG		PASS	0.532	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		5	39	5	39	---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32229905	32229905	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr22:32229905G>T	ENST00000382112.3	+	24	2179	c.2109G>T	c.(2107-2109)atG>atT	p.M703I	DEPDC5_ENST00000266091.3_Missense_Mutation_p.M703I|DEPDC5_ENST00000400249.2_Missense_Mutation_p.M703I|DEPDC5_ENST00000536766.1_Missense_Mutation_p.M597I|DEPDC5_ENST00000382105.2_Missense_Mutation_p.M625I|DEPDC5_ENST00000535622.1_Missense_Mutation_p.M625I|DEPDC5_ENST00000382111.2_Missense_Mutation_p.M703I|DEPDC5_ENST00000400246.1_Missense_Mutation_p.M703I|DEPDC5_ENST00000400248.2_Missense_Mutation_p.M703I	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	703					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)	p.M625I(1)|p.M703I(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCATAGGTATGAATCCTAGGA	0.448																																						uc003als.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(2107-2109)ATG>ATT		DEP domain containing 5 isoform 1							273.0	252.0	259.0					22																	32229905		1850	4094	5944	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32229905G>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2109G>T	22.37:g.32229905G>T	ENSP00000371546:p.Met703Ile					DEPDC5_uc011als.1_Missense_Mutation_p.M625I|DEPDC5_uc011alu.1_Missense_Mutation_p.M703I|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.M703I|DEPDC5_uc003alu.2_Missense_Mutation_p.M143I|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.M24I|DEPDC5_uc003alw.2_Missense_Mutation_p.M1I|DEPDC5_uc011alx.1_5'UTR|DEPDC5_uc011alt.1_Missense_Mutation_p.M597I	p.M703I	NM_014662	NP_055477	O75140	DEPD5_HUMAN			25	2251	+			703					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.2109G>T	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.10|10.10	1.256402|1.256402	0.22965|0.22965	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000433147|ENST00000535622;ENST00000536766;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382105;ENST00000382112;ENST00000382111;ENST00000400248	.|T;T;T;T;T;T;T;T;T	.|0.32515	.|1.59;1.45;2.01;2.02;2.0;1.57;2.02;2.0;2.02	5.08|5.08	2.97|2.97	0.34412|0.34412	.|.	.|0.545732	.|0.21137	.|N	.|0.079551	.|T	.|0.19967	.|0.0480	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B;B	.|0.12013	.|0.005;0.001;0.0;0.002;0.003;0.0;0.002	.|B;B;B;B;B;B;B	.|0.17722	.|0.019;0.001;0.0;0.005;0.006;0.001;0.001	.|T	.|0.05162	.|-1.0902	.|10	.|0.18276	.|T	.|0.48	.|.	9.3526|9.3526	0.38147|0.38147	0.1676:0.0:0.8324:0.0|0.1676:0.0:0.8324:0.0	.|.	.|24;703;597;625;703;703;703	.|B4DSS1;B9EGN9;F5GYZ8;B4DH93;O75140-4;A8MPX9;O75140	.|.;.;.;.;.;.;DEPD5_HUMAN	X|I	101|625;597;703;703;634;703;625;703;703;703	.|ENSP00000440210:M625I;ENSP00000441358:M597I;ENSP00000266091:M703I;ENSP00000383108:M703I;ENSP00000383105:M703I;ENSP00000371539:M625I;ENSP00000371546:M703I;ENSP00000371545:M703I;ENSP00000383107:M703I	.|ENSP00000266091:M703I	E|M	+|+	1|3	0|0	DEPDC5|DEPDC5	30559905|30559905	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	1.211000|1.211000	0.32382|0.32382	0.654000|0.654000	0.30846|0.30846	0.551000|0.551000	0.68910|0.68910	GAA|ATG		PASS	0.448	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		125	293	125	293	---	---	---	---
BPIFC	254240	broad.mit.edu	37	22	32831696	32831696	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr22:32831696C>T	ENST00000397452.1	-	9	1029	c.919G>A	c.(919-921)Gaa>Aaa	p.E307K	BPIFC_ENST00000432451.2_Missense_Mutation_p.E121K|BPIFC_ENST00000534972.1_Missense_Mutation_p.E31K|BPIFC_ENST00000300399.3_Missense_Mutation_p.E307K			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	307						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)	p.E307K(1)									CTCACCTCTTCGGTGGAGAGA	0.418																																						uc003amn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(919-921)GAA>AAA		bactericidal/permeability-increasing							58.0	59.0	59.0					22																	32831696		2203	4300	6503	SO:0001583	missense	254240					extracellular region	lipopolysaccharide binding|phospholipid binding	g.chr22:32831696C>T	AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.919G>A	22.37:g.32831696C>T	ENSP00000380594:p.Glu307Lys					BPIL2_uc010gwo.2_Missense_Mutation_p.E121K|BPIL2_uc011amb.1_Missense_Mutation_p.E31K	p.E307K	NM_174932	NP_777592	Q8NFQ6	BPIL2_HUMAN			8	919	-			307					A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	c.919G>A	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	C	4.348	0.064040	0.08388	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972;ENST00000432451	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	5.65	2.16	0.27623	.	0.449033	0.26895	N	0.021942	T	0.01870	0.0059	N	0.00517	-1.405	0.09310	N	0.999998	B;B	0.06786	0.0;0.001	B;B	0.04013	0.0;0.001	T	0.46610	-0.9179	10	0.11182	T	0.66	-3.7688	6.7561	0.23514	0.0:0.0767:0.2865:0.6368	.	121;307	A2RRF1;Q8NFQ6	.;BPIFC_HUMAN	K	307;307;31;121	ENSP00000380594:E307K;ENSP00000300399:E307K;ENSP00000439123:E31K;ENSP00000408920:E121K	ENSP00000300399:E307K	E	-	1	0	BPIFC	31161696	0.215000	0.23574	0.846000	0.33378	0.934000	0.57294	0.289000	0.18957	0.383000	0.24910	-0.295000	0.09555	GAA		PASS	0.418	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932		6	74	6	74	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3238837	3238837	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chrX:3238837G>T	ENST00000217939.6	-	5	5043	c.4889C>A	c.(4888-4890)tCc>tAc	p.S1630Y		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1630						extracellular vesicular exosome (GO:0070062)		p.S1630Y(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AAAGTATCTGGAAGCGCTTTG	0.473																																						uc004crg.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(4888-4890)TCC>TAC		adlican precursor							198.0	183.0	188.0					X																	3238837		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3238837G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4889C>A	X.37:g.3238837G>T	ENSP00000217939:p.Ser1630Tyr						p.S1630Y	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			5	5046	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1630					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.4889C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.729444	0.00687	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62232	0.04	3.2	-6.39	0.01951	.	0.883208	0.09299	U	0.821255	T	0.28067	0.0692	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.11348	-1.0591	10	0.30078	T	0.28	.	3.6497	0.08198	0.4912:0.0:0.2553:0.2534	.	1630	Q9NR99	MXRA5_HUMAN	Y	1630	ENSP00000217939:S1630Y	ENSP00000217939:S1630Y	S	-	2	0	MXRA5	3248837	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.499000	0.22546	-1.226000	0.02574	-0.743000	0.03520	TCC		PASS	0.473	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		127	62	127	62	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31198492	31198492	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chrX:31198492T>C	ENST00000357033.4	-	69	10287	c.10081A>G	c.(10081-10083)Act>Gct	p.T3361A	DMD_ENST00000343523.2_Missense_Mutation_p.T901A|DMD_ENST00000378702.4_Missense_Mutation_p.T293A|DMD_ENST00000378707.3_Missense_Mutation_p.T901A|DMD_ENST00000378680.2_Missense_Mutation_p.T293A|DMD_ENST00000541735.1_Missense_Mutation_p.T901A|DMD_ENST00000474231.1_Missense_Mutation_p.T901A|DMD_ENST00000378677.2_Missense_Mutation_p.T3357A|DMD_ENST00000359836.1_Missense_Mutation_p.T901A|DMD_ENST00000378723.3_Missense_Mutation_p.T293A|DMD_ENST00000361471.4_Missense_Mutation_p.T293A	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3361	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.T293A(1)|p.T3361A(1)|p.T3357A(1)|p.T3356A(1)|p.T2020A(1)|p.T901A(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTACCGGAGTGCAATATTCC	0.408																																						uc004dda.1																			6	Substitution - Missense(6)		lung(6)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(10081-10083)ACT>GCT		dystrophin Dp427m isoform							118.0	100.0	106.0					X																	31198492		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31198492T>C	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10081A>G	X.37:g.31198492T>C	ENSP00000354923:p.Thr3361Ala					DMD_uc004dcq.1_Missense_Mutation_p.T632A|DMD_uc004dcr.1_Missense_Mutation_p.T901A|DMD_uc004dcs.1_Missense_Mutation_p.T901A|DMD_uc004dct.1_Missense_Mutation_p.T901A|DMD_uc004dcu.1_Missense_Mutation_p.T901A|DMD_uc004dcv.1_Missense_Mutation_p.T901A|DMD_uc004dcw.2_Missense_Mutation_p.T2017A|DMD_uc004dcx.2_Missense_Mutation_p.T2020A|DMD_uc004dcz.2_Missense_Mutation_p.T3238A|DMD_uc004dcy.1_Missense_Mutation_p.T3357A|DMD_uc004ddb.1_Missense_Mutation_p.T3353A|DMD_uc004dcm.1_Missense_Mutation_p.T293A|DMD_uc004dcn.1_Missense_Mutation_p.T293A|DMD_uc004dco.1_Missense_Mutation_p.T293A|DMD_uc004dcp.1_Missense_Mutation_p.T293A|DMD_uc011mkb.1_Missense_Mutation_p.T293A|DMD_uc010ngm.2_Missense_Mutation_p.T293A	p.T3361A	NM_004006	NP_003997	P11532	DMD_HUMAN			69	10325	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	3361			Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.10081A>G	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.2|21.2	4.119036|4.119036	0.77323|0.77323	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000465285|ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680;ENST00000378705	.|D;D;D;D;D;D;D;D;D;D;D;D;D	.|0.90133	.|-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62;-2.62	5.03|5.03	3.82|3.82	0.43975|0.43975	.|.	.|0.000000	.|0.35903	.|U	.|0.002903	D|D	0.94042|0.94042	0.8091|0.8091	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	.|B;B;D;P;D;D;P;P;P;D;D;P;D;P;B;D	.|0.76494	.|0.243;0.218;0.994;0.893;0.997;0.997;0.575;0.895;0.895;0.998;0.999;0.917;0.99;0.919;0.019;0.994	.|B;B;D;B;D;D;B;B;B;D;D;P;D;P;B;D	.|0.80764	.|0.054;0.25;0.97;0.294;0.985;0.985;0.396;0.366;0.366;0.986;0.994;0.693;0.979;0.593;0.04;0.97	D|D	0.93540|0.93540	0.6877|0.6877	5|10	.|0.51188	.|T	.|0.08	.|.	9.9675|9.9675	0.41734|0.41734	0.0:0.0842:0.0:0.9158|0.0:0.0842:0.0:0.9158	.|.	.|293;3353;3361;3357;2020;2017;901;901;901;901;901;3238;293;293;293;293	.|B4DSV7;P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3;P11532-5;Q8N754;Q6NSJ9;E9PDN1	.|.;.;DMD_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.	R|A	1089|3353;2020;2017;293;1057;3357;3361;901;901;3361;3238;901;901;293;901;293;293;151	.|ENSP00000367997:T293A;ENSP00000350765:T1057A;ENSP00000367948:T3357A;ENSP00000354923:T3361A;ENSP00000352894:T901A;ENSP00000340057:T901A;ENSP00000367979:T901A;ENSP00000444119:T901A;ENSP00000367974:T293A;ENSP00000417123:T901A;ENSP00000354464:T293A;ENSP00000367951:T293A;ENSP00000367977:T151A	.|ENSP00000340057:T901A	H|T	-|-	2|1	0|0	DMD|DMD	31108413|31108413	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	7.825000|7.825000	0.86693|0.86693	1.868000|1.868000	0.54150|0.54150	0.441000|0.441000	0.28932|0.28932	CAC|ACT		PASS	0.408	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		3	71	3	71	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65423283	65423283	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chrX:65423283C>A	ENST00000343002.2	+	12	2819	c.2155C>A	c.(2155-2157)Cct>Act	p.P719T	HEPH_ENST00000374727.3_Missense_Mutation_p.P722T|HEPH_ENST00000336279.5_Missense_Mutation_p.P452T|HEPH_ENST00000441993.2_Missense_Mutation_p.P722T|HEPH_ENST00000519389.1_Missense_Mutation_p.P773T|HEPH_ENST00000419594.1_Missense_Mutation_p.P530T			Q9BQS7	HEPH_HUMAN	hephaestin	719					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.P719T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTCCCAGTGTCCTGGCCACCA	0.522																																						uc011moz.1																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)	9						c.(2164-2166)CCT>ACT		hephaestin isoform a							89.0	70.0	76.0					X																	65423283		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65423283C>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2155C>A	X.37:g.65423283C>A	ENSP00000343939:p.Pro719Thr					HEPH_uc004dwn.2_Missense_Mutation_p.P722T|HEPH_uc004dwo.2_Missense_Mutation_p.P452T|HEPH_uc010nkr.2_Missense_Mutation_p.P530T|HEPH_uc011mpa.1_Missense_Mutation_p.P722T|HEPH_uc010nks.2_Missense_Mutation_p.P11T	p.P722T	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			13	2224	+			719			Extracellular (Potential).		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.2164C>A		.	.	.	.	.	.	.	.	.	.	C	4.295	0.053964	0.08291	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98968	-5.14;-5.14;-5.14;-5.14;-5.28;-5.14;-5.14	4.77	2.37	0.29283	Cupredoxin (1);	0.479752	0.22808	N	0.055384	D	0.95105	0.8414	L	0.45352	1.415	0.09310	N	1	B;B;P;B	0.38863	0.045;0.023;0.65;0.167	B;B;B;B	0.37239	0.045;0.028;0.244;0.044	D	0.89293	0.3620	10	0.15499	T	0.54	.	3.7401	0.08526	0.3476:0.4963:0.0:0.1561	.	773;119;530;719	E9PHN8;B4DFV3;E7ES21;Q9BQS7	.;.;.;HEPH_HUMAN	T	773;722;452;722;530;719;676	ENSP00000430620:P773T;ENSP00000363859:P722T;ENSP00000337418:P452T;ENSP00000411687:P722T;ENSP00000413211:P530T;ENSP00000343939:P719T;ENSP00000398078:P676T	ENSP00000337418:P452T	P	+	1	0	HEPH	65340008	0.206000	0.23470	0.990000	0.47175	0.798000	0.45092	0.183000	0.16919	0.624000	0.30286	0.600000	0.82982	CCT		PASS	0.522	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		24	20	24	20	---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70598702	70598702	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chrX:70598702G>A	ENST00000373790.4	+	8	1229	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D	TAF1_ENST00000276072.3_Missense_Mutation_p.G414D|TAF1_ENST00000449580.1_Missense_Mutation_p.G393D|TAF1_ENST00000423759.1_Missense_Mutation_p.G414D	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	393	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.G414D(1)|p.G393D(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GAAAACAATGGCACTGATCTT	0.438																																						uc004dzu.3																			2	Substitution - Missense(2)		lung(2)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(1177-1179)GGC>GAC		TBP-associated factor 1 isoform 2							218.0	179.0	192.0					X																	70598702		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70598702G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1178G>A	X.37:g.70598702G>A	ENSP00000362895:p.Gly393Asp					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.G414D	p.G393D	NM_138923	NP_620278	P21675	TAF1_HUMAN			8	1229	+	Renal(35;0.156)	all_lung(315;0.000321)	393			Protein kinase 1.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.1178G>A	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	9.179	1.023111	0.19433	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.08370	3.1;3.15;3.15;3.1	4.56	3.68	0.42216	.	0.606158	0.18422	N	0.141724	T	0.02807	0.0084	N	0.03016	-0.435	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.45396	-0.9264	10	0.11794	T	0.64	.	5.3333	0.15944	0.1104:0.2042:0.6854:0.0	.	393;414	P21675;P21675-2	TAF1_HUMAN;.	D	393;393;414;414	ENSP00000362895:G393D;ENSP00000389000:G393D;ENSP00000406549:G414D;ENSP00000276072:G414D	ENSP00000276072:G414D	G	+	2	0	TAF1	70515427	0.966000	0.33281	0.305000	0.25099	0.988000	0.76386	2.523000	0.45580	1.223000	0.43536	0.513000	0.50165	GGC		PASS	0.438	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		68	42	68	42	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433991	72433991	+	Nonsense_Mutation	SNP	A	A	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chrX:72433991A>T	ENST00000373517.3	-	1	693	c.338T>A	c.(337-339)tTa>tAa	p.L113*	NAP1L2_ENST00000536638.1_5'UTR	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	113					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.L113*(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TTTAAGGGCTAACACACGGTA	0.403																																						uc004ebi.2																			1	Substitution - Nonsense(1)		lung(1)	lung(1)	1						c.(337-339)TTA>TAA		nucleosome assembly protein 1-like 2							128.0	117.0	121.0					X																	72433991		2203	4300	6503	SO:0001587	stop_gained	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433991A>T	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.338T>A	X.37:g.72433991A>T	ENSP00000362616:p.Leu113*					NAP1L2_uc011mqj.1_5'UTR	p.L113*	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN			1	694	-	Renal(35;0.156)		113					B2RE61|B4E161|Q8TAN6	Nonsense_Mutation	SNP	ENST00000373517.3	37	c.338T>A	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	a	37	6.361030	0.97507	.	.	ENSG00000186462	ENST00000373517	.	.	.	3.31	3.31	0.37934	.	0.194213	0.44097	U	0.000482	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-0.0011	5.1898	0.15203	0.7373:0.0:0.0:0.2627	.	.	.	.	X	113	.	ENSP00000362616:L113X	L	-	2	0	NAP1L2	72350716	1.000000	0.71417	0.864000	0.33941	0.954000	0.61252	4.195000	0.58400	1.531000	0.49152	0.486000	0.48141	TTA		PASS	0.403	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		52	25	52	25	---	---	---	---
XIST	7503	broad.mit.edu	37	X	73072079	73072079	+	lincRNA	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chrX:73072079G>A	ENST00000429829.1	-	0	509					NR_001564.2				X inactive specific transcript (non-protein coding)																		CCGATACCCCGATGGGCTAAG	0.478																																						uc004ebm.1																			0					0								Homo sapiens cDNA: FLJ21545 fis, clone COL06195.							19.0	19.0	19.0					X																	73072079		875	1991	2866			7503							g.chrX:73072079G>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73072079G>A								NR_001564						1		-									RNA	SNP	ENST00000429829.1	37	c.510C>T																																																																																					PASS	0.478	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		5	17	5	17	---	---	---	---
MAGEE2	139599	broad.mit.edu	37	X	75004382	75004382	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chrX:75004382C>G	ENST00000373359.2	-	1	697	c.505G>C	c.(505-507)Gcg>Ccg	p.A169P		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	169	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.A169P(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGGACTCCGCTATCCTATCG	0.522																																						uc004ecj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(505-507)GCG>CCG		melanoma antigen family E, 2							37.0	31.0	33.0					X																	75004382		2203	4300	6503	SO:0001583	missense	139599							g.chrX:75004382C>G	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.505G>C	X.37:g.75004382C>G	ENSP00000362457:p.Ala169Pro						p.A169P	NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN			1	690	-			169			MAGE 1.		Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.505G>C	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	C	7.990	0.753178	0.15778	.	.	ENSG00000186675	ENST00000373359	T	0.05580	3.42	3.08	3.08	0.35506	.	.	.	.	.	T	0.11367	0.0277	L	0.34521	1.04	0.09310	N	1	D	0.56746	0.977	P	0.59221	0.854	T	0.16364	-1.0405	9	0.45353	T	0.12	.	8.7773	0.34769	0.0:1.0:0.0:0.0	.	169	Q8TD90	MAGE2_HUMAN	P	169	ENSP00000362457:A169P	ENSP00000362457:A169P	A	-	1	0	MAGEE2	74921107	0.364000	0.24997	0.005000	0.12908	0.004000	0.04260	0.548000	0.23314	1.800000	0.52685	0.422000	0.28245	GCG		PASS	0.522	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		3	20	3	20	---	---	---	---
HDX	139324	broad.mit.edu	37	X	83724452	83724452	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chrX:83724452G>C	ENST00000297977.5	-	3	390	c.279C>G	c.(277-279)agC>agG	p.S93R	HDX_ENST00000506585.2_Missense_Mutation_p.S35R|HDX_ENST00000373177.2_Missense_Mutation_p.S93R	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	93						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S93R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AAGACTGCTGGCTTGAGGGTC	0.428																																					Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(277-279)AGC>AGG		highly divergent homeobox							148.0	125.0	133.0					X																	83724452		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83724452G>C	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.279C>G	X.37:g.83724452G>C	ENSP00000297977:p.Ser93Arg					HDX_uc011mqv.1_Missense_Mutation_p.S93R|HDX_uc004eel.1_Missense_Mutation_p.S35R	p.S93R	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			3	388	-			93					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.279C>G	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	G	7.109	0.575669	0.13623	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585;ENST00000449553	T;T;T;T	0.56444	1.45;1.4;1.45;0.46	4.75	-0.455	0.12193	.	0.341805	0.35525	N	0.003153	T	0.35364	0.0929	L	0.38175	1.15	0.35723	D	0.817335	B	0.30824	0.296	B	0.28991	0.097	T	0.15206	-1.0445	10	0.56958	D	0.05	-3.0656	5.9059	0.19001	0.4705:0.0:0.4052:0.1243	.	93	Q7Z353	HDX_HUMAN	R	93;35;93;35	ENSP00000297977:S93R;ENSP00000362272:S35R;ENSP00000423670:S93R;ENSP00000387790:S35R	ENSP00000297977:S93R	S	-	3	2	HDX	83611108	0.860000	0.29831	0.631000	0.29282	0.911000	0.54048	-0.111000	0.10807	-0.379000	0.07906	0.513000	0.50165	AGC		PASS	0.428	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		6	66	6	66	---	---	---	---
NXF5	55998	broad.mit.edu	37	X	101095855	101095855	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chrX:101095855T>A	ENST00000361708.2	-	9	852	c.493A>T	c.(493-495)Aac>Tac	p.N165Y	NXF5_ENST00000537026.1_Missense_Mutation_p.N165Y|NXF5_ENST00000473265.2_Missense_Mutation_p.N165Y			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	165					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.N165Y(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TTGCACAAGTTCAAAGACAAC	0.478																																						uc011mrk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(493-495)AAC>TAC		nuclear RNA export factor 5							94.0	79.0	84.0					X																	101095855		2201	4299	6500	SO:0001583	missense	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101095855T>A	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.493A>T	X.37:g.101095855T>A	ENSP00000355286:p.Asn165Tyr					NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_Intron|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA	p.N165Y	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN			9	853	-			165			LRR 1.		A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37	c.493A>T		.	.	.	.	.	.	.	.	.	.	.	14.91	2.676903	0.47886	.	.	ENSG00000126952	ENST00000537026;ENST00000473265;ENST00000361708	T;T;T	0.61510	0.1;0.1;0.1	2.05	0.868	0.19090	.	0.059726	0.64402	U	0.000005	T	0.64549	0.2608	L	0.56769	1.78	0.42251	D	0.991978	D	0.89917	1.0	D	0.83275	0.996	T	0.61471	-0.7056	10	0.56958	D	0.05	.	4.007	0.09605	0.0:0.3857:0.0:0.6143	.	165	A2RRM0	.	Y	165	ENSP00000442401:N165Y;ENSP00000426978:N165Y;ENSP00000355286:N165Y	ENSP00000263032:N165Y	N	-	1	0	NXF5	100982511	1.000000	0.71417	0.131000	0.22000	0.533000	0.34776	3.407000	0.52644	0.191000	0.20236	0.220000	0.17776	AAC		PASS	0.478	NXF5-201	KNOWN	basic	protein_coding	protein_coding				40	26	40	26	---	---	---	---
GPRASP2	114928	broad.mit.edu	37	X	101970974	101970974	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chrX:101970974G>C	ENST00000535209.1	+	4	2008	c.1177G>C	c.(1177-1179)Gca>Cca	p.A393P	GPRASP2_ENST00000332262.5_Missense_Mutation_p.A393P|GPRASP2_ENST00000543253.1_Missense_Mutation_p.A393P			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	393						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)	p.A393T(1)|p.A393P(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CTGGTTCTGGGCAGAAAAAGA	0.527																																						uc004ejk.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1177-1179)GCA>CCA		G protein-coupled receptor associated sorting							60.0	61.0	61.0					X																	101970974		2203	4300	6503	SO:0001583	missense	114928					cytoplasm	protein binding	g.chrX:101970974G>C	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1177G>C	X.37:g.101970974G>C	ENSP00000437394:p.Ala393Pro					GPRASP2_uc004ejl.2_Missense_Mutation_p.A393P|GPRASP2_uc004ejm.2_Missense_Mutation_p.A393P|GPRASP2_uc011mrp.1_5'Flank	p.A393P	NM_138437	NP_612446	Q96D09	GASP2_HUMAN			4	2511	+			393					D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.1177G>C	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.365347	0.41902	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.09538	2.97;2.97;2.97	4.44	3.58	0.41010	.	0.972034	0.08428	N	0.947359	T	0.18173	0.0436	M	0.66939	2.045	0.32692	N	0.514094	D	0.54397	0.966	P	0.47299	0.543	T	0.16719	-1.0393	10	0.34782	T	0.22	.	9.5146	0.39098	0.1063:0.0:0.8937:0.0	.	393	Q96D09	GASP2_HUMAN	P	393	ENSP00000437872:A393P;ENSP00000437394:A393P;ENSP00000339057:A393P	ENSP00000339057:A393P	A	+	1	0	GPRASP2	101857630	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	0.963000	0.29293	1.224000	0.43551	0.600000	0.82982	GCA		PASS	0.527	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		6	84	6	84	---	---	---	---
GRIA3	2892	broad.mit.edu	37	X	122532572	122532572	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chrX:122532572G>A	ENST00000371251.1	+	7	1050	c.998G>A	c.(997-999)cGg>cAg	p.R333Q	GRIA3_ENST00000264357.5_Missense_Mutation_p.R333Q|GRIA3_ENST00000542149.1_Missense_Mutation_p.R333Q|GRIA3_ENST00000371256.5_Missense_Mutation_p.R333Q|GRIA3_ENST00000541091.1_Missense_Mutation_p.R317Q			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	333					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)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)	p.R333Q(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	GATGTGTCCCGGAGAGGAAGT	0.483																																						uc004etq.3																			3	Substitution - Missense(3)		lung(3)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(997-999)CGG>CAG		glutamate receptor, ionotrophic, AMPA 3 isoform	L-Glutamic Acid(DB00142)						112.0	87.0	95.0					X																	122532572		2203	4300	6503	SO:0001583	missense	2892				glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chrX:122532572G>A	U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.998G>A	X.37:g.122532572G>A	ENSP00000360297:p.Arg333Gln					GRIA3_uc004etr.3_Missense_Mutation_p.R333Q|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.R317Q	p.R333Q	NM_007325	NP_015564	P42263	GRIA3_HUMAN			8	1291	+			333			Extracellular (Potential).		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	ENST00000371251.1	37	c.998G>A	CCDS14604.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142394	0.94560	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74	5.93	5.93	0.95920	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90383	0.6990	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.68483	0.949;0.958;0.93	D	0.88778	0.3269	10	0.33141	T	0.24	.	18.0905	0.89474	0.0:0.0:1.0:0.0	.	317;333;333	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	Q	333;333;333;333;317	ENSP00000264357:R333Q;ENSP00000446146:R333Q;ENSP00000360302:R333Q;ENSP00000360297:R333Q;ENSP00000446440:R317Q	ENSP00000264357:R333Q	R	+	2	0	GRIA3	122360253	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.827000	0.99397	2.494000	0.84150	0.600000	0.82982	CGG		PASS	0.483	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058854.1	NM_000828		7	39	7	39	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	124097425	124097425	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chrX:124097425G>A	ENST00000371130.3	-	1	241	c.178C>T	c.(178-180)Cag>Tag	p.Q60*	TENM1_ENST00000422452.2_Nonsense_Mutation_p.Q60*	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	60	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.Q60*(1)									TTTCTACTCTGGCTATTGTAA	0.373																																						uc004euj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(178-180)CAG>TAG		odz, odd Oz/ten-m homolog 1 isoform 3							246.0	230.0	235.0					X																	124097425		2203	4300	6503	SO:0001587	stop_gained	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:124097425G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.178C>T	X.37:g.124097425G>A	ENSP00000360171:p.Gln60*					ODZ1_uc011muj.1_Nonsense_Mutation_p.Q60*|ODZ1_uc010nqy.2_Nonsense_Mutation_p.Q60*	p.Q60*	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			1	242	-			60			Teneurin N-terminal.|Cytoplasmic (Potential).		B2RTR5|Q5JZ17	Nonsense_Mutation	SNP	ENST00000371130.3	37	c.178C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	38	7.039018	0.98021	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.78	5.78	0.91487	.	0.077331	0.52532	D	0.000063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.9267	0.92548	0.0:0.0:1.0:0.0	.	.	.	.	X	60	.	ENSP00000360171:Q60X	Q	-	1	0	ODZ1	123925106	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.342000	0.90049	2.417000	0.82017	0.600000	0.82982	CAG		PASS	0.373	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		117	77	117	77	---	---	---	---
USP26	83844	broad.mit.edu	37	X	132160305	132160305	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chrX:132160305G>C	ENST00000511190.1	-	6	2413	c.1944C>G	c.(1942-1944)ttC>ttG	p.F648L	USP26_ENST00000370832.1_Missense_Mutation_p.F648L|USP26_ENST00000406273.1_Missense_Mutation_p.F648L	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	648	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.F648L(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTTTTTCAATGAATGCTCGAT	0.433																																					NSCLC(104;342 1621 36940 47097 52632)	uc010nrm.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|central_nervous_system(3)|kidney(1)|liver(1)	8						c.(1942-1944)TTC>TTG		ubiquitin-specific protease 26							102.0	89.0	94.0					X																	132160305		2203	4300	6503	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160305G>C	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1944C>G	X.37:g.132160305G>C	ENSP00000423390:p.Phe648Leu					USP26_uc011mvf.1_Missense_Mutation_p.F648L	p.F648L	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN			6	2414	-	Acute lymphoblastic leukemia(192;0.000127)		648					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.1944C>G	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	G	0.349	-0.945735	0.02304	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.51325	0.71;0.71;0.71	3.5	1.58	0.23477	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.19406	0.0466	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.19192	-1.0313	9	0.22706	T	0.39	10.9655	3.0295	0.06102	0.1605:0.0:0.5772:0.2623	.	648	Q9BXU7	UBP26_HUMAN	L	648	ENSP00000359869:F648L;ENSP00000423390:F648L;ENSP00000384360:F648L	ENSP00000359869:F648L	F	-	3	2	USP26	131987971	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.435000	0.06931	0.283000	0.22279	-0.205000	0.12727	TTC		PASS	0.433	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		11	82	11	82	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135429362	135429362	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chrX:135429362C>A	ENST00000394143.1	+	6	3788	c.3497C>A	c.(3496-3498)tCt>tAt	p.S1166Y	GPR112_ENST00000412101.1_Missense_Mutation_p.S961Y|GPR112_ENST00000394141.1_Missense_Mutation_p.S961Y|GPR112_ENST00000370652.1_Missense_Mutation_p.S1166Y|GPR112_ENST00000287534.4_Missense_Mutation_p.S1103Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1166					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S1166Y(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCAACTACGTCTACACCAGAA	0.478																																						uc004ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(3496-3498)TCT>TAT		G-protein coupled receptor 112							189.0	149.0	163.0					X																	135429362		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429362C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3497C>A	X.37:g.135429362C>A	ENSP00000377699:p.Ser1166Tyr					GPR112_uc010nsb.1_Missense_Mutation_p.S961Y|GPR112_uc010nsc.1_Missense_Mutation_p.S933Y	p.S1166Y	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	3788	+	Acute lymphoblastic leukemia(192;0.000127)		1166			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3497C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	7.934	0.741249	0.15642	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41065	1.05;1.05;1.01;1.12;1.01	2.2	1.25	0.21368	.	.	.	.	.	T	0.24661	0.0598	L	0.27053	0.805	0.09310	N	1	P;P;P	0.44044	0.825;0.825;0.731	B;B;B	0.39935	0.314;0.314;0.166	T	0.08576	-1.0715	9	0.28530	T	0.3	.	3.9105	0.09201	0.0:0.7455:0.0:0.2545	.	1103;961;1166	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	Y	1166;1166;961;1103;961	ENSP00000377699:S1166Y;ENSP00000359686:S1166Y;ENSP00000416526:S961Y;ENSP00000287534:S1103Y;ENSP00000377697:S961Y	ENSP00000287534:S1103Y	S	+	2	0	GPR112	135257028	0.007000	0.16637	0.001000	0.08648	0.008000	0.06430	0.522000	0.22909	0.317000	0.23160	0.436000	0.28706	TCT		PASS	0.478	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			119	45	119	45	---	---	---	---
CXorf66	347487	broad.mit.edu	37	X	139047576	139047576	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chrX:139047576G>C	ENST00000370540.1	-	1	103	c.80C>G	c.(79-81)tCt>tGt	p.S27C		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	27						integral component of membrane (GO:0016021)		p.S27C(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						ACCTGTAGTAGAAGATCCATT	0.328																																						uc004fbb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(79-81)TCT>TGT		hypothetical protein LOC347487 precursor							215.0	191.0	199.0					X																	139047576		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139047576G>C		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.80C>G	X.37:g.139047576G>C	ENSP00000359571:p.Ser27Cys						p.S27C	NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN			1	102	-			27			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000370540.1	37	c.80C>G	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440894	0.43326	.	.	ENSG00000203933	ENST00000370540	T	0.60548	0.18	3.67	0.819	0.18785	.	.	.	.	.	T	0.54983	0.1892	L	0.32530	0.975	0.09310	N	1	D	0.71674	0.998	P	0.61940	0.896	T	0.40608	-0.9554	8	.	.	.	0.0081	2.5658	0.04783	0.2654:0.0:0.5017:0.233	.	27	Q5JRM2	CX066_HUMAN	C	27	ENSP00000359571:S27C	.	S	-	2	0	CXorf66	138875242	0.176000	0.23096	0.005000	0.12908	0.600000	0.36913	0.248000	0.18198	0.047000	0.15862	0.529000	0.55759	TCT		PASS	0.328	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		18	124	18	124	---	---	---	---
GDI1	2664	broad.mit.edu	37	X	153669525	153669525	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chrX:153669525G>A	ENST00000447750.2	+	7	1137	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	FAM50A_ENST00000393600.3_5'Flank	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	268					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)	p.V268M(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTGGTGGGCGTGAAGTCTGA	0.557																																						uc004fli.3																			1	Substitution - Missense(1)		lung(1)		0						c.(802-804)GTG>ATG		GDP dissociation inhibitor 1							154.0	124.0	134.0					X																	153669525		2203	4300	6503	SO:0001583	missense	2664				protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	g.chrX:153669525G>A	X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.802G>A	X.37:g.153669525G>A	ENSP00000394071:p.Val268Met					GDI1_uc011mzo.1_3'UTR|GDI1_uc004flj.2_5'Flank|FAM50A_uc004fll.3_5'Flank	p.V268M	NM_001493	NP_001484	P31150	GDIA_HUMAN			7	1144	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		268					P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	ENST00000447750.2	37	c.802G>A	CCDS35452.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.591849	0.86953	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	T	0.75154	-0.91	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.89234	0.6657	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	D	0.92042	0.5641	10	0.87932	D	0	-30.1773	15.4234	0.75031	0.0:0.0:1.0:0.0	.	268	P31150	GDIA_HUMAN	M	268;252	ENSP00000394071:V268M	ENSP00000358756:V252M	V	+	1	0	GDI1	153322719	1.000000	0.71417	0.956000	0.39512	0.902000	0.53008	9.869000	0.99810	2.235000	0.73313	0.544000	0.68410	GTG		PASS	0.557	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081649.2	NM_001493		11	68	11	68	---	---	---	---
GPR124	25960	broad.mit.edu	37	8	37699191	37699192	+	Frame_Shift_Ins	INS	-	-	G			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr8:37699191_37699192insG	ENST00000412232.2	+	19	3348_3349	c.3335_3336insG	c.(3334-3339)gagggcfs	p.EG1112fs	GPR124_ENST00000315215.7_Frame_Shift_Ins_p.EG895fs	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	1112					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTGTTCGGGGAGGGCCCCCCCT	0.762																																						uc003xkj.2																			0				large_intestine(2)|ovary(2)|skin(1)	5						c.(3334-3336)GAGfs		G protein-coupled receptor 124 precursor																																				SO:0001589	frameshift_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37699191_37699192insG	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.3338dupG	8.37:g.37699194_37699194dupG	ENSP00000406367:p.Glu1112fs					GPR124_uc010lvy.2_Frame_Shift_Ins_p.E895fs	p.E1112fs	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		19	3698_3699	+			1112			Cytoplasmic (Potential).		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Frame_Shift_Ins	INS	ENST00000412232.2	37	c.3335_3336insG	CCDS6097.2																																																																																					0.762	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			4	2	4	2	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49436428	49436428	+	Splice_Site	DEL	C	C	-			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:49436428delC	ENST00000301067.7	-	27	5782	c.5783delG	c.(5782-5784)ggt>gt	p.G1929fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1929					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)										AGGGAGTCCACCTACAAGACG	0.552																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(5782-5784)GGTfs		myeloid/lymphoid or mixed-lineage leukemia 2							77.0	80.0	79.0					12																	49436428		2022	4184	6206	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.chr12:49436428delC	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.5783-1G>-	12.37:g.49436428delC		HNSCC(34;0.089)					p.G1928fs	NM_003482	NP_003473	O14686	MLL2_HUMAN			27	5783	-			1928					O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.5783delG	CCDS44873.1																																																																																					0.552	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Frame_Shift_Del	55	54	55	54	---	---	---	---
PLBD2	196463	broad.mit.edu	37	12	113824846	113824846	+	Frame_Shift_Del	DEL	G	G	-			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr12:113824846delG	ENST00000280800.3	+	10	1422	c.1391delG	c.(1390-1392)cggfs	p.R464fs	PLBD2_ENST00000545182.2_Frame_Shift_Del_p.R432fs	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	464					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATCTTCCGGCGGAACCAGTCA	0.602																																						uc001tve.2																			0					0						c.(1390-1392)CGGfs		phospholipase B domain containing 2 isoform 1							70.0	76.0	74.0					12																	113824846		2203	4300	6503	SO:0001589	frameshift_variant	196463				lipid catabolic process	lysosomal lumen	hydrolase activity	g.chr12:113824846delG	BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1391delG	12.37:g.113824846delG	ENSP00000280800:p.Arg464fs					PLBD2_uc001tvf.2_Frame_Shift_Del_p.R432fs	p.R464fs	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN			10	1426	+			464					F5H5E2	Frame_Shift_Del	DEL	ENST00000280800.3	37	c.1391delG	CCDS9168.1																																																																																					0.602	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542		136	62	136	62	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578500	7578501	+	Frame_Shift_Ins	INS	-	-	T			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr17:7578500_7578501insT	ENST00000269305.4	-	5	618_619	c.429_430insA	c.(427-432)gtgcagfs	p.Q144fs	TP53_ENST00000420246.2_Frame_Shift_Ins_p.Q144fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.Q144fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.Q144fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.Q144fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.Q144fs|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	144	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q144*(36)|p.0?(8)|p.Q144fs*25(3)|p.Q144fs*26(3)|p.Q144K(2)|p.V143V(2)|p.Q12*(2)|p.Q51*(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144del(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.A138_V143delAKTCPV(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.Q12fs*25(1)|p.V143_S149del(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)	ACCCACAGCTGCACAGGGCAGG	0.594		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		69	Substitution - Nonsense(40)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(6)|Substitution - Missense(2)|Substitution - coding silent(2)	p.Q144*(29)|p.V143M(16)|p.V143A(14)|p.0?(7)|p.V143L(4)|p.V143E(4)|p.Q144fs*26(3)|p.Q144K(2)|p.V143V(2)|p.V143fs*27(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.V143fs*29(1)|p.Q144del(1)|p.Q144fs*32(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.V143_S149del(1)	lung(11)|upper_aerodigestive_tract(10)|breast(9)|oesophagus(8)|endometrium(6)|ovary(6)|bone(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|stomach(2)|central_nervous_system(2)|soft_tissue(1)|urinary_tract(1)|liver(1)|skin(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(427-432)GTGCAGfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a																																				SO:0001589	frameshift_variant	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.chr17:7578500_7578501insT	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.429_430insA	17.37:g.7578500_7578501insT	ENSP00000269305:p.Gln144fs	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_Frame_Shift_Ins_p.V143fs|TP53_uc002gih.2_Frame_Shift_Ins_p.V143fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.V11fs|TP53_uc010cng.1_Frame_Shift_Ins_p.V11fs|TP53_uc002gii.1_Frame_Shift_Ins_p.V11fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.V143fs|TP53_uc010cni.1_Frame_Shift_Ins_p.V143fs|TP53_uc002gij.2_Frame_Shift_Ins_p.V143fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Ins_p.V50fs|TP53_uc002gio.2_Frame_Shift_Ins_p.V11fs|TP53_uc010vug.1_Frame_Shift_Ins_p.V104fs	p.V143fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	623_624	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	143_144		Q -> P (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; 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	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.429_430insA	CCDS11118.1																																																																																					0.594	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	39	28	39	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10296178	10296178	+	Frame_Shift_Del	DEL	C	C	-			TCGA-39-5036-01A-01D-1441-08	TCGA-39-5036-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	a1aa5fba-f179-4777-8d49-345a366d12fa	26d2b643-1b11-4be8-a2f2-fb8855f4768b	g.chr17:10296178delC	ENST00000403437.2	-	37	5527	c.5433delG	c.(5431-5433)gggfs	p.G1811fs	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1811					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTGCTTCTTCCCACCCTTCA	0.567									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			0				skin(6)|ovary(3)|breast(2)	11						c.(5431-5433)GGGfs		myosin, heavy chain 8, skeletal muscle,							135.0	135.0	135.0					17																	10296178		2203	4300	6503	SO:0001589	frameshift_variant	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10296178delC		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.5433delG	17.37:g.10296178delC	ENSP00000384330:p.Gly1811fs					uc002gml.1_Intron	p.G1811fs	NM_002472	NP_002463	P13535	MYH8_HUMAN			37	5528	-			1811			Potential.		Q14910	Frame_Shift_Del	DEL	ENST00000403437.2	37	c.5433delG	CCDS11153.1																																																																																					0.567	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		85	77	85	77	---	---	---	---
