#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
SLC35E2	9906	broad.mit.edu	37	1	1666131	1666131	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:1666131G>A	ENST00000246421.4	-	5	1145	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	SLC35E2_ENST00000355439.2_Nonsense_Mutation_p.Q244*|RP1-283E3.4_ENST00000417099.1_RNA|RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000400924.1_Nonsense_Mutation_p.Q244*|SLC35E2_ENST00000475229.1_5'UTR	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	244						integral component of membrane (GO:0016021)		p.Q244*(1)		endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGCTCACCTGAAAGTCACCG	0.507																																						uc001aib.1																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(730-732)CAG>TAG		solute carrier family 35, member E2							29.0	21.0	24.0					1																	1666131		2200	4275	6475	SO:0001587	stop_gained	9906					integral to membrane		g.chr1:1666131G>A	AB007916	CCDS33.1, CCDS55560.1	1p36.33	2013-05-22			ENSG00000215790	ENSG00000215790		"""Solute carriers"""	20863	protein-coding gene	gene with protein product							Standard	NM_182838		Approved	KIAA0447	uc001aia.2	P0CK97	OTTHUMG00000000823	ENST00000246421.4:c.730C>T	1.37:g.1666131G>A	ENSP00000246421:p.Gln244*					SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|SLC35E2_uc001ahy.2_Nonsense_Mutation_p.Q244*|SLC35E2_uc001ahz.2_Nonsense_Mutation_p.Q244*	p.Q244*	NM_182838	NP_878258	P0CK97	S35E2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	5	1146	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	244					B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8	Nonsense_Mutation	SNP	ENST00000246421.4	37	c.730C>T	CCDS33.1	.	.	.	.	.	.	.	.	.	.	g	34	5.320799	0.95682	.	.	ENSG00000215790	ENST00000355439;ENST00000400924;ENST00000246421	.	.	.	3.0	2.07	0.26955	.	0.146651	0.45606	U	0.000347	.	.	.	.	.	.	0.22401	N	0.999135	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.5185	9.767	0.40567	0.1144:0.0:0.8856:0.0	.	.	.	.	X	244	.	ENSP00000246421:Q244X	Q	-	1	0	SLC35E2	1655991	1.000000	0.71417	0.991000	0.47740	0.216000	0.24613	6.983000	0.76180	1.678000	0.50952	0.423000	0.28283	CAG		PASS	0.507	SLC35E2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000002210.3	XM_049733		9	41	9	41	---	---	---	---
DNAJC11	55735	broad.mit.edu	37	1	6700080	6700080	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:6700080G>A	ENST00000377577.5	-	11	1258	c.1135C>T	c.(1135-1137)Cac>Tac	p.H379Y	DNAJC11_ENST00000294401.7_Intron|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000377573.5_Missense_Mutation_p.H289Y|DNAJC11_ENST00000542246.1_Missense_Mutation_p.H341Y	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	379						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)		p.H379Y(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGTCAAGTGAATAGGGAAG	0.478																																						uc001aof.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1135-1137)CAC>TAC		DnaJ (Hsp40) homolog, subfamily C, member 11							70.0	66.0	67.0					1																	6700080		2203	4300	6503	SO:0001583	missense	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6700080G>A	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.1135C>T	1.37:g.6700080G>A	ENSP00000366800:p.His379Tyr					DNAJC11_uc010nzt.1_Intron|DNAJC11_uc001aog.2_Intron|DNAJC11_uc010nzu.1_Missense_Mutation_p.H289Y	p.H379Y	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	11	1241	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	379					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Missense_Mutation	SNP	ENST00000377577.5	37	c.1135C>T	CCDS87.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646144	0.87958	.	.	ENSG00000007923	ENST00000377577;ENST00000542246;ENST00000377573	T;T;T	0.22743	2.54;2.27;1.94	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.32941	0.0846	M	0.64170	1.965	0.80722	D	1	D;B	0.59357	0.985;0.344	P;B	0.53006	0.715;0.189	T	0.07849	-1.0751	10	0.02654	T	1	-16.4926	19.6603	0.95864	0.0:0.0:1.0:0.0	.	289;379	B4DGD5;Q9NVH1	.;DJC11_HUMAN	Y	379;341;289	ENSP00000366800:H379Y;ENSP00000444020:H341Y;ENSP00000366796:H289Y	ENSP00000366796:H289Y	H	-	1	0	DNAJC11	6622667	1.000000	0.71417	0.590000	0.28732	0.877000	0.50540	9.126000	0.94411	2.894000	0.99253	0.591000	0.81541	CAC		PASS	0.478	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		9	32	9	32	---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10342554	10342554	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:10342554C>G	ENST00000377086.1	+	15	1599	c.1397C>G	c.(1396-1398)tCt>tGt	p.S466C	KIF1B_ENST00000377083.1_Missense_Mutation_p.S420C|KIF1B_ENST00000377093.4_Missense_Mutation_p.S420C|KIF1B_ENST00000377081.1_Missense_Mutation_p.S466C|KIF1B_ENST00000263934.6_Missense_Mutation_p.S420C			O60333	KIF1B_HUMAN	kinesin family member 1B	466					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.S420C(2)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AGGATCATGTCTACACCTGGA	0.463																																						uc001aqx.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1396-1398)TCT>TGT		kinesin family member 1B isoform b							166.0	154.0	158.0					1																	10342554		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10342554C>G	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.1397C>G	1.37:g.10342554C>G	ENSP00000366290:p.Ser466Cys					KIF1B_uc001aqv.3_Missense_Mutation_p.S420C|KIF1B_uc001aqw.3_Missense_Mutation_p.S420C|KIF1B_uc001aqy.2_Missense_Mutation_p.S440C|KIF1B_uc001aqz.2_Missense_Mutation_p.S466C|KIF1B_uc001ara.2_Missense_Mutation_p.S426C|KIF1B_uc001arb.2_Missense_Mutation_p.S452C	p.S466C	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	15	1599	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	466					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.1397C>G		.	.	.	.	.	.	.	.	.	.	C	24.8	4.565741	0.86439	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377093;ENST00000377086;ENST00000377083;ENST00000377081	T;T;T;T;T	0.74106	-0.64;-0.81;-0.71;-0.81;-0.71	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.78622	0.4312	N	0.19112	0.55	0.80722	D	1	P;P;B;P;D;D;D	0.71674	0.944;0.79;0.048;0.944;0.988;0.998;0.975	P;P;B;P;P;D;P	0.69824	0.593;0.593;0.012;0.593;0.723;0.966;0.854	T	0.80522	-0.1345	10	0.54805	T	0.06	.	19.5998	0.95557	0.0:1.0:0.0:0.0	.	452;426;466;440;466;420;420	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2;O60333-3	.;.;.;.;KIF1B_HUMAN;.;.	C	466;420;420;466;420;466	ENSP00000263934:S420C;ENSP00000366297:S420C;ENSP00000366290:S466C;ENSP00000366287:S420C;ENSP00000366284:S466C	ENSP00000263934:S420C	S	+	2	0	KIF1B	10265141	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.936000	0.70153	2.717000	0.92951	0.655000	0.94253	TCT		PASS	0.463	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			29	81	29	81	---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10380147	10380147	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:10380147G>A	ENST00000377086.1	+	23	2364	c.2162G>A	c.(2161-2163)cGa>cAa	p.R721Q	KIF1B_ENST00000377081.1_Missense_Mutation_p.R721Q|KIF1B_ENST00000263934.6_Missense_Mutation_p.R675Q			O60333	KIF1B_HUMAN	kinesin family member 1B	721					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.R675Q(2)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GTTGAAACCCGATCTCTGGCT	0.413																																						uc001aqx.3																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(2161-2163)CGA>CAA		kinesin family member 1B isoform b							55.0	54.0	54.0					1																	10380147		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10380147G>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2162G>A	1.37:g.10380147G>A	ENSP00000366290:p.Arg721Gln					KIF1B_uc001aqw.3_Missense_Mutation_p.R675Q|KIF1B_uc001aqy.2_Missense_Mutation_p.R695Q|KIF1B_uc001aqz.2_Missense_Mutation_p.R721Q|KIF1B_uc001ara.2_Missense_Mutation_p.R681Q|KIF1B_uc001arb.2_Missense_Mutation_p.R707Q	p.R721Q	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	23	2364	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	721			Potential.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2162G>A		.	.	.	.	.	.	.	.	.	.	G	12.27	1.886914	0.33348	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.73575	-0.76;-0.76;-0.76	5.63	5.63	0.86233	.	0.256644	0.36893	N	0.002349	T	0.48003	0.1476	N	0.05534	-0.03	0.25907	N	0.98328	B;B;D;B;B;P	0.54964	0.021;0.021;0.969;0.135;0.035;0.487	B;B;B;B;B;B	0.35607	0.007;0.012;0.206;0.019;0.003;0.165	T	0.47573	-0.9107	10	0.12103	T	0.63	.	13.2856	0.60241	0.0726:0.0:0.9274:0.0	.	707;681;721;695;721;675	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	Q	721;675;721;721	ENSP00000263934:R675Q;ENSP00000366290:R721Q;ENSP00000366284:R721Q	ENSP00000263934:R675Q	R	+	2	0	KIF1B	10302734	0.854000	0.29725	0.966000	0.40874	0.926000	0.56050	4.324000	0.59228	2.821000	0.97095	0.555000	0.69702	CGA		PASS	0.413	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			6	21	6	21	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19494528	19494528	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:19494528G>C	ENST00000375254.3	-	28	3919	c.3892C>G	c.(3892-3894)Ctt>Gtt	p.L1298V	UBR4_ENST00000375226.2_Missense_Mutation_p.L1298V|UBR4_ENST00000375267.2_Missense_Mutation_p.L1298V|UBR4_ENST00000375217.2_Missense_Mutation_p.L1298V	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1298					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L1298V(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TACACAATAAGATCTCCAGTC	0.478																																						uc001bbi.2																			1	Substitution - Missense(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(3892-3894)CTT>GTT		retinoblastoma-associated factor 600							123.0	123.0	123.0					1																	19494528		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19494528G>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.3892C>G	1.37:g.19494528G>C	ENSP00000364403:p.Leu1298Val					UBR4_uc001bbm.1_Missense_Mutation_p.L509V	p.L1298V	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	28	3896	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1298					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.3892C>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958323	0.92726	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.74053	0.3666	L	0.33485	1.01	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.70037	-0.4982	10	0.33141	T	0.24	.	19.7043	0.96067	0.0:0.0:1.0:0.0	.	1298	Q5T4S7	UBR4_HUMAN	V	1298;1298;1298;1298;8;514	ENSP00000364403:L1298V;ENSP00000364416:L1298V;ENSP00000364365:L1298V;ENSP00000364374:L1298V	ENSP00000364365:L1298V	L	-	1	0	UBR4	19367115	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	9.467000	0.97671	2.745000	0.94114	0.655000	0.94253	CTT		PASS	0.478	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		26	69	26	69	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22202777	22202777	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:22202777C>G	ENST00000374695.3	-	23	3027	c.2948G>C	c.(2947-2949)aGa>aCa	p.R983T		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	983	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.R983T(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	AGATAAGAGTCTGTGGAAGGA	0.597																																						uc001bfj.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(2947-2949)AGA>ACA		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						54.0	52.0	53.0					1																	22202777		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22202777C>G	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.2948G>C	1.37:g.22202777C>G	ENSP00000363827:p.Arg983Thr					HSPG2_uc009vqd.2_Missense_Mutation_p.R984T	p.R983T	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	23	2988	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	983			Laminin IV type A 2.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.2948G>C	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	0.355	-0.942808	0.02322	.	.	ENSG00000142798	ENST00000374695	T	0.75154	-0.91	5.01	-2.69	0.06022	Laminin B type IV (1);	0.621190	0.14248	N	0.331615	T	0.46927	0.1418	N	0.08118	0	0.20074	N	0.999931	B	0.12013	0.005	B	0.09377	0.004	T	0.36480	-0.9746	10	0.09590	T	0.72	.	11.1157	0.48259	0.0:0.3121:0.0:0.6879	.	983	P98160	PGBM_HUMAN	T	983	ENSP00000363827:R983T	ENSP00000363827:R983T	R	-	2	0	HSPG2	22075364	0.004000	0.15560	0.961000	0.40146	0.679000	0.39708	-1.004000	0.03678	-0.311000	0.08754	-0.258000	0.10820	AGA		PASS	0.597	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		19	31	19	31	---	---	---	---
RHD	6007	broad.mit.edu	37	1	25617255	25617255	+	Silent	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:25617255G>A	ENST00000328664.4	+	3	614	c.459G>A	c.(457-459)ctG>ctA	p.L153L	RHD_ENST00000357542.4_Silent_p.L153L|RHD_ENST00000423810.2_Silent_p.L153L|RHD_ENST00000342055.5_Silent_p.L153L|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000568195.1_Silent_p.L153L|RHD_ENST00000417538.2_Silent_p.L153L|RHD_ENST00000454452.2_Silent_p.L153L	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	153						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)	p.L153L(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)		TAGGCAACCTGAGGATGGTCA	0.537																																						uc001bjz.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(457-459)CTG>CTA		Rh blood group D antigen isoform 1							215.0	153.0	175.0					1																	25617255		2146	3817	5963	SO:0001819	synonymous_variant	6007					integral to plasma membrane		g.chr1:25617255G>A	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.459G>A	1.37:g.25617255G>A						RHD_uc010oep.1_Silent_p.L153L|RHD_uc001bkc.2_Silent_p.L153L|RHD_uc009vrm.2_5'UTR|RHD_uc001bka.2_Silent_p.L153L|RHD_uc001bkb.2_Silent_p.L153L|RHD_uc009vrn.2_Silent_p.L153L|RHD_uc009vro.2_Silent_p.L153L|RHD_uc009vrp.2_Silent_p.L153L	p.L153L	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)	3	517	+		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)	153					Q02162|Q07618|Q16147|Q16235|Q16355|Q5VSK0|Q5XLS9|Q5XLT1|Q5XLT2|Q9NPK0|Q9UQ20|Q9UQ21|Q9UQ22|Q9UQ23	Silent	SNP	ENST00000328664.4	37	c.459G>A	CCDS262.1																																																																																				PASS	0.537	RHD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009660.5	NM_016124		35	40	35	40	---	---	---	---
MYCL	4610	broad.mit.edu	37	1	40363471	40363471	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:40363471C>A	ENST00000372816.2	-	2	1115	c.668G>T	c.(667-669)tGc>tTc	p.C223F	MYCL_ENST00000397332.2_Missense_Mutation_p.C253F|RP1-118J21.5_ENST00000418255.1_RNA			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	223						nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C253F(1)									TTCTTGGGAGCAGCTTTCTGG	0.532																																						uc001cer.1										A							small cell lung 		1	Substitution - Missense(1)		lung(1)	lung(1)|liver(1)	2						c.(667-669)TGC>TTC		l-myc-1 proto-oncogene isoform 1							108.0	117.0	114.0					1																	40363471		2203	4300	6503	SO:0001583	missense	4610					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:40363471C>A		CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"""Basic helix-loop-helix proteins"""	7555	protein-coding gene	gene with protein product	"""l-myc protein"", ""myc-related gene from lung cancer"", ""oncogene lmyc"""	164850	"""v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"""	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.668G>T	1.37:g.40363471C>A	ENSP00000361903:p.Cys223Phe					MYCL1_uc001ces.1_Missense_Mutation_p.C223F	p.C223F	NM_001033082	NP_001028254	P12524	MYCL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.51e-19)|Epithelial(16;3.36e-18)|all cancers(16;8.43e-17)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		3	885	-	all_cancers(7;1.73e-14)|all_lung(5;2.77e-17)|all_epithelial(6;6.81e-17)|Lung SC(1;2.85e-13)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	223					A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	Missense_Mutation	SNP	ENST00000372816.2	37	c.668G>T	CCDS30682.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.673062	0.29693	.	.	ENSG00000116990	ENST00000397332;ENST00000372816	T;T	0.78126	-0.94;-1.15	6.06	3.09	0.35607	.	0.740986	0.13903	N	0.354772	T	0.78246	0.4253	L	0.36672	1.1	0.80722	D	1	D	0.56521	0.976	P	0.60068	0.868	T	0.73017	-0.4115	10	0.54805	T	0.06	-0.0961	7.1917	0.25828	0.0:0.594:0.2664:0.1395	.	223	P12524	MYCL1_HUMAN	F	253;223	ENSP00000380494:C253F;ENSP00000361903:C223F	ENSP00000361903:C223F	C	-	2	0	MYCL1	40136058	0.930000	0.31532	0.991000	0.47740	0.988000	0.76386	1.751000	0.38339	0.400000	0.25396	0.655000	0.94253	TGC		PASS	0.532	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277004.1	NM_001033082		4	182	4	182	---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66036310	66036310	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:66036310G>C	ENST00000349533.6	+	4	380	c.195G>C	c.(193-195)gaG>gaC	p.E65D	snoU13_ENST00000459362.1_RNA|LEPR_ENST00000371059.3_Missense_Mutation_p.E65D|LEPR_ENST00000371060.3_Missense_Mutation_p.E65D|LEPR_ENST00000344610.8_Missense_Mutation_p.E65D|LEPR_ENST00000371058.1_Missense_Mutation_p.E65D|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.E65D(3)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GACATTATGAGACAGCTGTTG	0.378																																						uc001dci.2																			3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(193-195)GAG>GAC		leptin receptor isoform 1							127.0	124.0	125.0					1																	66036310		2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66036310G>C	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.195G>C	1.37:g.66036310G>C	ENSP00000330393:p.Glu65Asp					LEPR_uc001dcg.2_Missense_Mutation_p.E65D|LEPR_uc001dch.2_Missense_Mutation_p.E65D|LEPR_uc009waq.2_Missense_Mutation_p.E65D|LEPR_uc001dcj.2_Missense_Mutation_p.E65D|LEPR_uc001dck.2_Missense_Mutation_p.E65D	p.E65D	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	4	397	+			65			Extracellular (Potential).		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.195G>C	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	9.217	1.032300	0.19590	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.57107	0.45;0.45;0.46;0.42;0.45	5.56	3.05	0.35203	.	0.529823	0.21080	N	0.080507	T	0.26738	0.0654	M	0.69823	2.125	0.54753	D	0.999987	B;B;B;P	0.36712	0.11;0.101;0.162;0.566	B;B;B;B	0.31946	0.028;0.026;0.039;0.138	T	0.07424	-1.0773	10	0.19590	T	0.45	-20.2255	7.8852	0.29646	0.1945:0.0:0.8055:0.0	.	65;65;65;65	P48357-4;P48357;P48357-2;P48357-3	.;LEPR_HUMAN;.;.	D	65	ENSP00000340884:E65D;ENSP00000330393:E65D;ENSP00000360099:E65D;ENSP00000360098:E65D;ENSP00000360097:E65D	ENSP00000340884:E65D	E	+	3	2	LEPR	65808898	0.001000	0.12720	0.786000	0.31890	0.435000	0.31806	-0.078000	0.11375	0.373000	0.24621	0.460000	0.39030	GAG		PASS	0.378	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		14	62	14	62	---	---	---	---
C1orf141	400757	broad.mit.edu	37	1	67558694	67558694	+	Silent	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:67558694G>A	ENST00000371007.2	-	8	1306	c.1197C>T	c.(1195-1197)gcC>gcT	p.A399A	C1orf141_ENST00000371006.1_Silent_p.A399A|C1orf141_ENST00000544837.1_Silent_p.A399A	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	399								p.A399A(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TATTTTATGAGGCATTTAAAA	0.249																																						uc001ddl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1195-1197)GCC>GCT		hypothetical protein LOC400757							26.0	28.0	28.0					1																	67558694		2173	4281	6454	SO:0001819	synonymous_variant	400757							g.chr1:67558694G>A	BC090886	CCDS30745.1, CCDS72804.1	1p31.2	2012-07-23			ENSG00000203963	ENSG00000203963			32044	protein-coding gene	gene with protein product							Standard	NM_001276351		Approved		uc001ddm.2	Q5JVX7	OTTHUMG00000009406	ENST00000371007.2:c.1197C>T	1.37:g.67558694G>A						C1orf141_uc001ddm.1_Silent_p.A399A|C1orf141_uc001ddn.1_RNA	p.A399A	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN			7	1308	-			399					Q0P5P5|Q5JVX5	Silent	SNP	ENST00000371007.2	37	c.1197C>T	CCDS30745.1																																																																																				PASS	0.249	C1orf141-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026096.2	NM_001013674		4	18	4	18	---	---	---	---
GBP7	388646	broad.mit.edu	37	1	89615179	89615179	+	Silent	SNP	T	T	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:89615179T>A	ENST00000294671.2	-	7	1086	c.948A>T	c.(946-948)gcA>gcT	p.A316A		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	316						membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.A316A(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GGGCCAGAACTGCCATTGCAT	0.557																																						uc001dna.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(946-948)GCA>GCT		guanylate binding protein 4-like							87.0	77.0	80.0					1																	89615179		2203	4300	6503	SO:0001819	synonymous_variant	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89615179T>A	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.948A>T	1.37:g.89615179T>A						GBP2_uc001dmy.1_RNA	p.A316A	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	7	1087	-		Lung NSC(277;0.0908)	316						Silent	SNP	ENST00000294671.2	37	c.948A>T	CCDS720.1																																																																																				PASS	0.557	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		15	52	15	52	---	---	---	---
PLPPR5	163404	broad.mit.edu	37	1	99418658	99418658	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:99418658C>A	ENST00000263177.4	-	3	810	c.589G>T	c.(589-591)Gct>Tct	p.A197S	LPPR5_ENST00000370188.3_Missense_Mutation_p.A197S	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		197						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)	p.A197S(1)									ACACTGAGAGCTGCTTCTTTG	0.393																																						uc001dsb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(589-591)GCT>TCT		phosphatidic acid phosphatase type 2d isoform 1							124.0	113.0	117.0					1																	99418658		2203	4300	6503	SO:0001583	missense	163404					integral to membrane	hydrolase activity	g.chr1:99418658C>A																												ENST00000263177.4:c.589G>T	1.37:g.99418658C>A	ENSP00000263177:p.Ala197Ser					LPPR5_uc001dsc.2_Missense_Mutation_p.A197S	p.A197S	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN			3	811	-			197			Helical; (Potential).		A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Missense_Mutation	SNP	ENST00000263177.4	37	c.589G>T	CCDS30778.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882124	0.72294	.	.	ENSG00000117598	ENST00000370188;ENST00000263177	T;T	0.75477	-0.94;-0.94	5.16	5.16	0.70880	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.153311	0.64402	D	0.000019	T	0.46386	0.1390	N	0.13272	0.32	0.54753	D	0.999985	B;P	0.37688	0.3;0.605	B;B	0.38056	0.106;0.264	T	0.52298	-0.8594	10	0.15066	T	0.55	.	17.9943	0.89178	0.0:1.0:0.0:0.0	.	197;197	Q32ZL2-2;Q32ZL2	.;LPPR5_HUMAN	S	197	ENSP00000359207:A197S;ENSP00000263177:A197S	ENSP00000263177:A197S	A	-	1	0	AL161744.1	99191246	1.000000	0.71417	0.882000	0.34594	0.941000	0.58515	7.445000	0.80570	2.563000	0.86464	0.655000	0.94253	GCT		PASS	0.393	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1			14	61	14	61	---	---	---	---
SARS	6301	broad.mit.edu	37	1	109756748	109756748	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:109756748G>A	ENST00000234677.2	+	1	209	c.134G>A	c.(133-135)cGa>cAa	p.R45Q	SARS_ENST00000369923.4_Missense_Mutation_p.R45Q	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	45					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)	p.R45Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GAGTGGCGACGATGTAAGTAC	0.592																																						uc001dwu.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(133-135)CGA>CAA		seryl-tRNA synthetase	L-Serine(DB00133)						113.0	90.0	98.0					1																	109756748		2203	4300	6503	SO:0001583	missense	6301				seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity	g.chr1:109756748G>A	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.134G>A	1.37:g.109756748G>A	ENSP00000234677:p.Arg45Gln					SARS_uc001dwt.1_Missense_Mutation_p.R45Q|SARS_uc001dwv.1_Missense_Mutation_p.R45Q|SARS_uc001dww.1_5'UTR|SARS_uc001dwx.1_Missense_Mutation_p.R45Q|SARS_uc009wfa.1_Missense_Mutation_p.R45Q|SARS_uc001dwy.1_5'UTR	p.R45Q	NM_006513	NP_006504	P49591	SYSC_HUMAN		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	1	209	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	45					B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	ENST00000234677.2	37	c.134G>A	CCDS795.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484204	0.44147	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.41065	1.01;1.01	5.38	5.38	0.77491	tRNA-binding arm (1);Seryl-tRNA synthetase, class IIa, N-terminal (2);	0.064498	0.64402	D	0.000010	T	0.08179	0.0204	N	0.02985	-0.445	0.38518	D	0.948649	B;B;B;B	0.18610	0.017;0.006;0.029;0.017	B;B;B;B	0.12156	0.003;0.002;0.007;0.003	T	0.21484	-1.0244	10	0.13853	T	0.58	-5.5081	11.4738	0.50286	0.0825:0.0:0.9175:0.0	.	45;45;45;45	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	Q	45	ENSP00000234677:R45Q;ENSP00000358939:R45Q	ENSP00000234677:R45Q	R	+	2	0	SARS	109558271	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	3.684000	0.54671	2.805000	0.96524	0.460000	0.39030	CGA		PASS	0.592	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2	NM_006513		6	75	6	75	---	---	---	---
GNAT2	2780	broad.mit.edu	37	1	110148995	110148995	+	Silent	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:110148995G>C	ENST00000351050.3	-	5	711	c.525C>G	c.(523-525)ctC>ctG	p.L175L		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	175					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to light intensity (GO:0009642)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.L175L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		CTCTGGATCGGAGCACATCTT	0.438																																						uc001dya.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(523-525)CTC>CTG		guanine nucleotide binding protein, alpha							158.0	143.0	148.0					1																	110148995		2203	4300	6503	SO:0001819	synonymous_variant	2780				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity	g.chr1:110148995G>C	BC000233	CCDS803.1	1p13	2013-01-08			ENSG00000134183	ENSG00000134183			4394	protein-coding gene	gene with protein product		139340				8406495	Standard	NM_005272		Approved	ACHM4	uc001dya.3	P19087	OTTHUMG00000011639	ENST00000351050.3:c.525C>G	1.37:g.110148995G>C							p.L175L	NM_005272	NP_005263	P19087	GNAT2_HUMAN		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)	5	738	-		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)	175			GTP (By similarity).			Silent	SNP	ENST00000351050.3	37	c.525C>G	CCDS803.1																																																																																				PASS	0.438	GNAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032181.1	NM_005272		30	80	30	80	---	---	---	---
SLC16A4	9122	broad.mit.edu	37	1	110921905	110921905	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:110921905G>C	ENST00000369779.4	-	6	849	c.600C>G	c.(598-600)atC>atG	p.I200M	SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000541986.1_Missense_Mutation_p.I138M|SLC16A4_ENST00000472422.2_Missense_Mutation_p.I152M|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000437429.2_Missense_Mutation_p.I90M	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	200					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.I200M(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TCTCACTTTTGATATGGATGG	0.408																																						uc001dzo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(598-600)ATC>ATG		solute carrier family 16, member 4	Pyruvic acid(DB00119)						106.0	98.0	101.0					1																	110921905		2203	4300	6503	SO:0001583	missense	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110921905G>C	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.600C>G	1.37:g.110921905G>C	ENSP00000358794:p.Ile200Met					SLC16A4_uc009wfs.1_Missense_Mutation_p.I152M|SLC16A4_uc001dzp.1_Intron|SLC16A4_uc010ovy.1_Missense_Mutation_p.I138M|SLC16A4_uc001dzq.1_Intron|SLC16A4_uc010ovz.1_Missense_Mutation_p.I90M	p.I200M	NM_004696	NP_004687	O15374	MOT5_HUMAN		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	6	782	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	200			Cytoplasmic (Potential).		A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Missense_Mutation	SNP	ENST00000369779.4	37	c.600C>G	CCDS823.1	.	.	.	.	.	.	.	.	.	.	g	12.15	1.851173	0.32699	.	.	ENSG00000168679	ENST00000369779;ENST00000472422;ENST00000437429;ENST00000541986	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	5.81	4.89	0.63831	Major facilitator superfamily domain, general substrate transporter (1);	0.905027	0.08661	U	0.912483	T	0.30198	0.0757	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.28933	0.129;0.12;0.228;0.043	B;B;B;B	0.28784	0.048;0.076;0.094;0.033	T	0.30707	-0.9969	10	0.33940	T	0.23	.	10.504	0.44823	0.1492:0.0:0.8508:0.0	.	90;138;152;200	E7EPY8;B4DJ67;G3V175;O15374	.;.;.;MOT5_HUMAN	M	200;152;90;138	ENSP00000358794:I200M;ENSP00000432495:I152M;ENSP00000394790:I90M;ENSP00000446087:I138M	ENSP00000358794:I200M	I	-	3	3	SLC16A4	110723428	0.723000	0.28027	0.085000	0.20634	0.777000	0.43975	0.639000	0.24690	1.455000	0.47813	0.651000	0.88453	ATC		PASS	0.408	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		11	53	11	53	---	---	---	---
MCL1	4170	broad.mit.edu	37	1	150551448	150551448	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:150551448G>A	ENST00000369026.2	-	1	618	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	MCL1_ENST00000464132.1_5'Flank|MCL1_ENST00000307940.3_Missense_Mutation_p.R187W	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia 1	187					apoptotic mitochondrial changes (GO:0008637)|cell fate determination (GO:0001709)|cellular homeostasis (GO:0019725)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|protein transmembrane transport (GO:0071806)|regulation of response to DNA damage stimulus (GO:2001020)|response to cytokine (GO:0034097)	Bcl-2 family protein complex (GO:0097136)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	BH3 domain binding (GO:0051434)|protein channel activity (GO:0015266)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R187W(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCCTGCTCCCGAAGGTACCGA	0.647																																						uc001euz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(559-561)CGG>TGG		myeloid cell leukemia sequence 1 isoform 1							53.0	54.0	54.0					1																	150551448		2203	4300	6503	SO:0001583	missense	4170				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity	g.chr1:150551448G>A	BC017197	CCDS956.1, CCDS957.1, CCDS72909.1	1q21	2014-03-07	2014-03-07		ENSG00000143384	ENSG00000143384			6943	protein-coding gene	gene with protein product		159552	"""myeloid cell leukemia sequence 1 (BCL2-related)"""			7682708, 7835896	Standard	NM_021960		Approved	BCL2L3, Mcl-1	uc001euz.3	Q07820	OTTHUMG00000034867	ENST00000369026.2:c.559C>T	1.37:g.150551448G>A	ENSP00000358022:p.Arg187Trp					MCL1_uc010pch.1_Missense_Mutation_p.R77W|MCL1_uc001eva.2_Missense_Mutation_p.R187W	p.R187W	NM_021960	NP_068779	Q07820	MCL1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		1	689	-	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		187					B2R6B2|D3DV03|D3DV04|Q9HD91|Q9NRQ3|Q9NRQ4|Q9UHR7|Q9UHR8|Q9UHR9|Q9UNJ1	Missense_Mutation	SNP	ENST00000369026.2	37	c.559C>T	CCDS957.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150256	0.78001	.	.	ENSG00000143384	ENST00000369026;ENST00000307940;ENST00000439749	T;T	0.04551	3.6;3.6	5.14	2.16	0.27623	.	0.916459	0.09330	N	0.816992	T	0.04407	0.0121	L	0.36672	1.1	0.32839	D	0.505123	D;D	0.89917	1.0;0.998	D;P	0.67548	0.952;0.783	T	0.42050	-0.9474	10	0.87932	D	0	-5.5057	3.1702	0.06550	0.0856:0.1544:0.4419:0.318	.	187;187	Q07820-2;Q07820	.;MCL1_HUMAN	W	187;187;116	ENSP00000358022:R187W;ENSP00000309973:R187W	ENSP00000309973:R187W	R	-	1	2	MCL1	148818072	0.930000	0.31532	0.539000	0.28077	0.991000	0.79684	1.624000	0.37018	0.290000	0.22444	0.655000	0.94253	CGG		PASS	0.647	MCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084402.1	NM_021960		15	121	15	121	---	---	---	---
CRNN	49860	broad.mit.edu	37	1	152382343	152382343	+	Silent	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:152382343C>T	ENST00000271835.3	-	3	1277	c.1215G>A	c.(1213-1215)caG>caA	p.Q405Q	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	405					response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)	p.Q405Q(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGCCCCAGTCTGGGCCTGTC	0.607																																						uc001ezx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1213-1215)CAG>CAA		cornulin							96.0	76.0	83.0					1																	152382343		2203	4300	6503	SO:0001819	synonymous_variant	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382343C>T	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1215G>A	1.37:g.152382343C>T							p.Q405Q	NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1289	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		405					B2RE60|Q8N613	Silent	SNP	ENST00000271835.3	37	c.1215G>A	CCDS1010.1																																																																																				PASS	0.607	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		25	82	25	82	---	---	---	---
PKLR	5313	broad.mit.edu	37	1	155263135	155263135	+	Splice_Site	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:155263135C>T	ENST00000342741.4	-	9	1308		c.e9-1		PKLR_ENST00000392414.3_Splice_Site	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC						ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CCCGGGCAATCTGCAGGTGCC	0.597																																						uc001fkb.3																			1	Unknown(1)		lung(1)	skin(4)|ovary(1)	5	GRCh37	CS052052	PKLR	S		c.e9-1		pyruvate kinase, liver and RBC isoform 1	Pyruvic acid(DB00119)						58.0	54.0	56.0					1																	155263135		2203	4300	6503	SO:0001630	splice_region_variant	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155263135C>T	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1270-1G>A	1.37:g.155263135C>T						RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Splice_Site_p.I393_splice	p.I424_splice	NM_000298	NP_000289	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		9	1309	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)							O75758|P11973	Splice_Site	SNP	ENST00000342741.4	37	c.1270_splice	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023012	0.75275	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1641	0.72807	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PKLR	153529759	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.903000	0.56318	2.530000	0.85305	0.561000	0.74099	.		PASS	0.597	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298	Intron	31	101	31	101	---	---	---	---
PKLR	5313	broad.mit.edu	37	1	155264083	155264083	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:155264083C>G	ENST00000342741.4	-	7	1097	c.1059G>C	c.(1057-1059)caG>caC	p.Q353H	PKLR_ENST00000392414.3_Missense_Mutation_p.Q322H	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	353					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.Q353H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TCATCATCTTCTGAGCCAGGA	0.567																																						uc001fkb.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)	5						c.(1057-1059)CAG>CAC		pyruvate kinase, liver and RBC isoform 1	Pyruvic acid(DB00119)						101.0	94.0	96.0					1																	155264083		2203	4300	6503	SO:0001583	missense	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155264083C>G	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.1059G>C	1.37:g.155264083C>G	ENSP00000339933:p.Gln353His					RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.Q322H	p.Q353H	NM_000298	NP_000289	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		7	1098	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		353					O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.1059G>C	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	19.97	3.924434	0.73213	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99714	-6.5;-6.5	4.74	3.8	0.43715	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	H	0.99881	4.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96366	0.9270	10	0.87932	D	0	-27.7056	12.8127	0.57649	0.0:0.834:0.166:0.0	.	353;344	P30613;B1AVT1	KPYR_HUMAN;.	H	378;322;353;267	ENSP00000376214:Q322H;ENSP00000339933:Q353H	ENSP00000271946:Q267H	Q	-	3	2	PKLR	153530707	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.776000	0.68924	1.304000	0.44892	0.655000	0.94253	CAG		PASS	0.567	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		21	55	21	55	---	---	---	---
RIT1	6016	broad.mit.edu	37	1	155874207	155874207	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:155874207G>T	ENST00000368323.3	-	5	528	c.324C>A	c.(322-324)ttC>ttA	p.F108L	RIT1_ENST00000368322.3_Missense_Mutation_p.F125L|RIT1_ENST00000539040.1_Missense_Mutation_p.F72L	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	108					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)	p.F108L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			GAACTTCATGGAAACTTCGAC	0.453																																						uc001fmh.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(322-324)TTC>TTA		Ras-like without CAAX 1							143.0	121.0	128.0					1																	155874207		2203	4300	6503	SO:0001583	missense	6016				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr1:155874207G>T	AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.324C>A	1.37:g.155874207G>T	ENSP00000357306:p.Phe108Leu					RIT1_uc010pgr.1_Missense_Mutation_p.F72L	p.F108L	NM_006912	NP_008843	Q92963	RIT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)		5	511	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		108					B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	ENST00000368323.3	37	c.324C>A	CCDS1123.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709729	0.68730	.	.	ENSG00000143622	ENST00000368323;ENST00000539040;ENST00000368322	T;T;T	0.80304	-1.36;-1.36;-1.36	5.76	4.85	0.62838	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74543	0.3730	M	0.77616	2.38	0.80722	D	1	B	0.30914	0.3	B	0.32980	0.156	T	0.77874	-0.2425	10	0.59425	D	0.04	.	14.4635	0.67467	0.0713:0.0:0.9287:0.0	.	108	Q92963	RIT1_HUMAN	L	108;72;125	ENSP00000357306:F108L;ENSP00000441950:F72L;ENSP00000357305:F125L	ENSP00000357305:F125L	F	-	3	2	RIT1	154140831	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.749000	0.47492	1.449000	0.47699	0.467000	0.42956	TTC		PASS	0.453	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039593.1	NM_006912		16	52	16	52	---	---	---	---
DNM3	26052	broad.mit.edu	37	1	172011204	172011204	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:172011204C>T	ENST00000355305.5	+	8	1205	c.1048C>T	c.(1048-1050)Caa>Taa	p.Q350*	DNM3_ENST00000367733.2_Nonsense_Mutation_p.Q350*|DNM3_ENST00000520906.1_Nonsense_Mutation_p.Q350*|DNM3_ENST00000358155.4_Nonsense_Mutation_p.Q350*|DNM3_ENST00000367731.1_Nonsense_Mutation_p.Q350*			Q9UQ16	DYN3_HUMAN	dynamin 3	350					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.Q350*(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GTCAGGGGATCAAGTAGATAC	0.378																																						uc001gie.2																			1	Substitution - Nonsense(1)		lung(1)	breast(1)	1						c.(1048-1050)CAA>TAA		dynamin 3 isoform a							149.0	147.0	148.0					1																	172011204		1837	4081	5918	SO:0001587	stop_gained	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172011204C>T	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1048C>T	1.37:g.172011204C>T	ENSP00000347457:p.Gln350*					DNM3_uc001gid.3_Nonsense_Mutation_p.Q350*|DNM3_uc009wwb.2_Nonsense_Mutation_p.Q350*|DNM3_uc001gif.2_Nonsense_Mutation_p.Q350*	p.Q350*	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			8	1224	+			350					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Nonsense_Mutation	SNP	ENST00000355305.5	37	c.1048C>T		.	.	.	.	.	.	.	.	.	.	C	39	7.523833	0.98335	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	.	.	.	5.65	5.65	0.86999	.	0.111162	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	18.2887	0.90122	0.0:1.0:0.0:0.0	.	.	.	.	X	350;350;350;350;350;350;240	.	ENSP00000347457:Q350X	Q	+	1	0	DNM3	170277827	0.999000	0.42202	1.000000	0.80357	0.965000	0.64279	3.883000	0.56168	2.669000	0.90835	0.491000	0.48974	CAA		PASS	0.378	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		11	39	11	39	---	---	---	---
DARS2	55157	broad.mit.edu	37	1	173826783	173826783	+	Silent	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:173826783G>C	ENST00000361951.4	+	17	2605	c.1878G>C	c.(1876-1878)ctG>ctC	p.L626L	DARS2_ENST00000471476.1_3'UTR|DARS2_ENST00000239457.5_Silent_p.L171L	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	626			L -> Q (in LBSL). {ECO:0000269|PubMed:17384640}.|L -> V (in LBSL). {ECO:0000269|PubMed:17384640}.		gene expression (GO:0010467)|mitochondrial asparaginyl-tRNA aminoacylation (GO:0070145)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aspartate-tRNA ligase activity (GO:0004815)|aspartate-tRNA(Asn) ligase activity (GO:0050560)|ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.L626L(1)		breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CTGAGGAACTGAAGCCCTATC	0.478																																						uc001gjh.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)	2						c.(1876-1878)CTG>CTC		aspartyl-tRNA synthetase 2, mitochondrial	L-Aspartic Acid(DB00128)						119.0	106.0	110.0					1																	173826783		2203	4300	6503	SO:0001819	synonymous_variant	55157				tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding	g.chr1:173826783G>C	AK022754	CCDS1311.1	1q25.1	2011-07-01	2007-02-23		ENSG00000117593	ENSG00000117593	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	25538	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 2, mitochondrial"""	610956				15779907	Standard	NM_018122		Approved	FLJ10514	uc001gjh.2	Q6PI48	OTTHUMG00000034803	ENST00000361951.4:c.1878G>C	1.37:g.173826783G>C							p.L626L	NM_018122	NP_060592	Q6PI48	SYDM_HUMAN			17	2288	+			626		L -> Q (in LBSL).|L -> V (in LBSL).				Silent	SNP	ENST00000361951.4	37	c.1878G>C	CCDS1311.1																																																																																				PASS	0.478	DARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084220.1	NM_018122		13	54	13	54	---	---	---	---
TSEN15	116461	broad.mit.edu	37	1	184023991	184023991	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:184023991A>G	ENST00000361641.1	+	3	426	c.347A>G	c.(346-348)cAt>cGt	p.H116R	TSEN15_ENST00000423085.2_Missense_Mutation_p.H116R|TSEN15_ENST00000533373.1_Missense_Mutation_p.H116R	NM_052965.2	NP_443197.1	Q8WW01	SEN15_HUMAN	TSEN15 tRNA splicing endonuclease subunit	116					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)	tRNA-intron endonuclease activity (GO:0000213)	p.H116R(1)		breast(1)|kidney(3)|large_intestine(2)|lung(2)	8						TCCCTCAGCCATAACAGGTGA	0.448																																						uc001gqt.3																			1	Substitution - Missense(1)		lung(1)		0						c.(346-348)CAT>CGT		tRNA splicing endonuclease 15 isoform 1							52.0	46.0	48.0					1																	184023991		2203	4299	6502	SO:0001583	missense	116461				mRNA processing|tRNA processing	nucleolus	protein binding	g.chr1:184023991A>G	AF288394	CCDS1361.1, CCDS44286.1, CCDS72993.1	1q25	2013-08-06	2013-08-06	2008-06-12	ENSG00000198860	ENSG00000198860		"""tRNA splicing endonuclease subunits"""	16791	protein-coding gene	gene with protein product		608756	"""chromosome 1 open reading frame 19"", ""tRNA splicing endonuclease 15 homolog (S. cerevisiae)"""	C1orf19		11318611, 17166513	Standard	XM_006711148		Approved		uc001gqt.4	Q8WW01	OTTHUMG00000035461	ENST00000361641.1:c.347A>G	1.37:g.184023991A>G	ENSP00000355299:p.His116Arg					TSEN15_uc009wyg.2_RNA|TSEN15_uc001gqu.3_Missense_Mutation_p.H116R	p.H116R	NM_052965	NP_443197	Q8WW01	SEN15_HUMAN			3	426	+			116					B4DKP0|Q9BZQ5	Missense_Mutation	SNP	ENST00000361641.1	37	c.347A>G	CCDS1361.1	.	.	.	.	.	.	.	.	.	.	A	19.38	3.817340	0.70912	.	.	ENSG00000198860	ENST00000361641;ENST00000533373;ENST00000423085	T;T;T	0.43688	0.94;0.94;0.94	5.27	5.27	0.74061	tRNA-intron endonuclease, Sen15 domain (1);	0.000000	0.85682	D	0.000000	T	0.58878	0.2153	L	0.59436	1.845	0.53005	D	0.999963	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.994	T	0.60969	-0.7157	10	0.62326	D	0.03	-21.0137	11.5176	0.50532	1.0:0.0:0.0:0.0	.	116;116	B4DKP0;Q8WW01	.;SEN15_HUMAN	R	116	ENSP00000355299:H116R;ENSP00000436996:H116R;ENSP00000402002:H116R	ENSP00000355299:H116R	H	+	2	0	TSEN15	182290614	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.486000	0.60286	2.206000	0.71126	0.528000	0.53228	CAT		PASS	0.448	TSEN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086132.1			3	10	3	10	---	---	---	---
DDX59	83479	broad.mit.edu	37	1	200635181	200635181	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:200635181G>C	ENST00000331314.6	-	2	901	c.688C>G	c.(688-690)Caa>Gaa	p.Q230E	DDX59_ENST00000367348.3_Missense_Mutation_p.Q230E|DDX59_ENST00000447706.2_Missense_Mutation_p.Q230E	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	230						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.Q230E(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ATCTGCATTTGAATGGGAGTT	0.443																																						uc009wzk.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(688-690)CAA>GAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							142.0	143.0	143.0					1																	200635181		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200635181G>C	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.688C>G	1.37:g.200635181G>C	ENSP00000330460:p.Gln230Glu					DDX59_uc010ppl.1_Missense_Mutation_p.Q230E	p.Q230E	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN			2	931	-			230			Q motif.		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.688C>G	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913926	0.92178	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314	D;D;D	0.82803	-1.65;-1.65;-1.65	5.33	5.33	0.75918	RNA helicase, DEAD-box type, Q motif (1);DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95143	0.8426	H	0.98646	4.29	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97069	0.9776	10	0.87932	D	0	-21.8478	19.0796	0.93177	0.0:0.0:1.0:0.0	.	230;230	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	E	230	ENSP00000394367:Q230E;ENSP00000356317:Q230E;ENSP00000330460:Q230E	ENSP00000330460:Q230E	Q	-	1	0	DDX59	198901804	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.848000	0.99507	2.498000	0.84270	0.650000	0.86243	CAA		PASS	0.443	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		42	140	42	140	---	---	---	---
DDX59	83479	broad.mit.edu	37	1	200635425	200635425	+	Silent	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:200635425G>A	ENST00000331314.6	-	2	657	c.444C>T	c.(442-444)ctC>ctT	p.L148L	DDX59_ENST00000367348.3_Silent_p.L148L|DDX59_ENST00000447706.2_Silent_p.L148L	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	148						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.L148L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						GTGGATTGCTGAGTTTTGATT	0.408																																						uc009wzk.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(442-444)CTC>CTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							92.0	94.0	93.0					1																	200635425		2203	4300	6503	SO:0001819	synonymous_variant	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200635425G>A	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.444C>T	1.37:g.200635425G>A						DDX59_uc010ppl.1_Silent_p.L148L	p.L148L	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN			2	687	-			148					Q6PJL2|Q8IVW3|Q9H0W3	Silent	SNP	ENST00000331314.6	37	c.444C>T	CCDS30964.1																																																																																				PASS	0.408	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		19	66	19	66	---	---	---	---
DDX59	83479	broad.mit.edu	37	1	200635460	200635460	+	Missense_Mutation	SNP	G	G	T	rs181912115	byFrequency	TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:200635460G>T	ENST00000331314.6	-	2	622	c.409C>A	c.(409-411)Cta>Ata	p.L137I	DDX59_ENST00000367348.3_Missense_Mutation_p.L137I|DDX59_ENST00000447706.2_Missense_Mutation_p.L137I	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	137						cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.L137I(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						TTAACTTGTAGAAGATGTTTC	0.418																																						uc009wzk.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(409-411)CTA>ATA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							99.0	99.0	99.0					1																	200635460		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200635460G>T	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.409C>A	1.37:g.200635460G>T	ENSP00000330460:p.Leu137Ile					DDX59_uc010ppl.1_Missense_Mutation_p.L137I	p.L137I	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN			2	652	-			137					Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.409C>A	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.360572	0.24598	.	.	ENSG00000118197	ENST00000447706;ENST00000367348;ENST00000331314;ENST00000436897	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.09	2.88	0.33553	.	0.396126	0.25720	N	0.028748	T	0.34077	0.0885	M	0.67953	2.075	0.09310	N	1	P;P	0.35481	0.504;0.504	B;B	0.30716	0.119;0.119	T	0.36456	-0.9747	10	0.59425	D	0.04	-9.9342	4.7277	0.12948	0.2392:0.1962:0.5646:0.0	.	137;137	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	I	137	ENSP00000394367:L137I;ENSP00000356317:L137I;ENSP00000330460:L137I;ENSP00000391312:L137I	ENSP00000330460:L137I	L	-	1	2	DDX59	198902083	0.710000	0.27896	0.021000	0.16686	0.914000	0.54420	1.329000	0.33770	1.103000	0.41568	0.555000	0.69702	CTA		PASS	0.418	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		25	70	25	70	---	---	---	---
PTPN14	5784	broad.mit.edu	37	1	214531328	214531328	+	Silent	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:214531328G>A	ENST00000366956.5	-	19	3695	c.3501C>T	c.(3499-3501)atC>atT	p.I1167I	PTPN14_ENST00000543945.1_3'UTR|RP11-176D17.3_ENST00000443622.1_RNA	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	1167	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.I1167I(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGTACTGAGCGATAGTCTGGA	0.507																																					Colon(92;557 1424 24372 34121 40073)	uc001hkk.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|kidney(1)|skin(1)	5						c.(3499-3501)ATC>ATT		protein tyrosine phosphatase, non-receptor type							183.0	164.0	170.0					1																	214531328		2203	4300	6503	SO:0001819	synonymous_variant	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214531328G>A	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.3501C>T	1.37:g.214531328G>A							p.I1167I	NM_005401	NP_005392	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	19	3772	-			1167			Tyrosine-protein phosphatase.		Q5VSI0	Silent	SNP	ENST00000366956.5	37	c.3501C>T	CCDS1514.1																																																																																				PASS	0.507	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		12	38	12	38	---	---	---	---
TARBP1	6894	broad.mit.edu	37	1	234569206	234569206	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:234569206G>C	ENST00000040877.1	-	14	2343	c.2344C>G	c.(2344-2346)Ctt>Gtt	p.L782V		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	782					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.L782V(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TTTTTCAAAAGAGAAATAACT	0.398																																						uc001hwd.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(2344-2346)CTT>GTT		TAR RNA binding protein 1							132.0	127.0	129.0					1																	234569206		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234569206G>C		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2344C>G	1.37:g.234569206G>C	ENSP00000040877:p.Leu782Val						p.L782V	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		14	2344	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	782					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.2344C>G	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	5.173	0.217477	0.09810	.	.	ENSG00000059588	ENST00000040877	T	0.05717	3.4	5.68	3.81	0.43845	.	0.627390	0.17997	N	0.155002	T	0.05227	0.0139	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34354	-0.9832	10	0.48119	T	0.1	-8.7507	6.8592	0.24058	0.3859:0.0:0.6141:0.0	.	782	Q13395	TARB1_HUMAN	V	782	ENSP00000040877:L782V	ENSP00000040877:L782V	L	-	1	0	TARBP1	232635829	0.997000	0.39634	0.824000	0.32777	0.973000	0.67179	1.545000	0.36169	0.751000	0.32900	0.655000	0.94253	CTT		PASS	0.398	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		12	50	12	50	---	---	---	---
TARBP1	6894	broad.mit.edu	37	1	234569302	234569302	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:234569302G>T	ENST00000040877.1	-	14	2247	c.2248C>A	c.(2248-2250)Cgt>Agt	p.R750S		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	750					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)	p.R750S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AAATGGCAACGATCCAGATCT	0.393																																						uc001hwd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2248-2250)CGT>AGT		TAR RNA binding protein 1							98.0	95.0	96.0					1																	234569302		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234569302G>T		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2248C>A	1.37:g.234569302G>T	ENSP00000040877:p.Arg750Ser						p.R750S	NM_005646	NP_005637	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		14	2248	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	750					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.2248C>A	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961836	0.74016	.	.	ENSG00000059588	ENST00000040877	T	0.09538	2.97	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.33962	0.0881	M	0.68952	2.095	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.00510	-1.1697	10	0.40728	T	0.16	-9.6234	19.7727	0.96373	0.0:0.0:1.0:0.0	.	750	Q13395	TARB1_HUMAN	S	750	ENSP00000040877:R750S	ENSP00000040877:R750S	R	-	1	0	TARBP1	232635925	1.000000	0.71417	0.557000	0.28306	0.653000	0.38743	6.441000	0.73439	2.680000	0.91292	0.655000	0.94253	CGT		PASS	0.393	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		16	61	16	61	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235945292	235945292	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:235945292G>T	ENST00000389794.3	-	15	5132	c.4958C>A	c.(4957-4959)tCa>tAa	p.S1653*	LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Nonsense_Mutation_p.S1653*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1653					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.S1653*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCTTGGGATGATAAACAATG	0.403																																						uc001hxj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(4957-4959)TCA>TAA		lysosomal trafficking regulator							108.0	105.0	106.0					1																	235945292		2203	4300	6503	SO:0001587	stop_gained	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235945292G>T	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4958C>A	1.37:g.235945292G>T	ENSP00000374444:p.Ser1653*					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA	p.S1653*	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		15	5133	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1653					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	ENST00000389794.3	37	c.4958C>A	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	45	12.042063	0.99630	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	.	.	.	5.57	5.57	0.84162	.	0.341752	0.32204	N	0.006439	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9078	0.97014	0.0:0.0:1.0:0.0	.	.	.	.	X	1653	.	ENSP00000374443:S1653X	S	-	2	0	LYST	234011915	0.990000	0.36364	0.988000	0.46212	0.997000	0.91878	2.596000	0.46205	2.780000	0.95670	0.650000	0.86243	TCA		PASS	0.403	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			17	39	17	39	---	---	---	---
NID1	4811	broad.mit.edu	37	1	236208960	236208960	+	Silent	SNP	T	T	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:236208960T>C	ENST00000264187.6	-	3	631	c.549A>G	c.(547-549)ctA>ctG	p.L183L	NID1_ENST00000366595.3_Silent_p.L183L	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	183	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				basement membrane organization (GO:0071711)|cell-matrix adhesion (GO:0007160)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|positive regulation of cell-substrate adhesion (GO:0010811)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|cell periphery (GO:0071944)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)	p.L183L(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Urokinase(DB00013)	CAGAGGAGGCTAGAACAGCCT	0.403																																						uc001hxo.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|pancreas(1)	2						c.(547-549)CTA>CTG		nidogen 1 precursor	Becaplermin(DB00102)|Urokinase(DB00013)						56.0	51.0	53.0					1																	236208960		2203	4300	6503	SO:0001819	synonymous_variant	4811				cell-matrix adhesion	basement membrane	calcium ion binding	g.chr1:236208960T>C	BC045606	CCDS1608.1	1q43	2011-05-08	2005-06-02	2005-06-02	ENSG00000116962	ENSG00000116962			7821	protein-coding gene	gene with protein product		131390	"""nidogen (enactin)"""	NID		2471408, 7557988	Standard	NM_002508		Approved	entactin	uc001hxo.3	P14543	OTTHUMG00000040071	ENST00000264187.6:c.549A>G	1.37:g.236208960T>C						NID1_uc009xgd.2_Silent_p.L183L	p.L183L	NM_002508	NP_002499	P14543	NID1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		3	651	-	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	183			NIDO.		Q14942|Q59FL2|Q5TAF2|Q5TAF3|Q86XD7	Silent	SNP	ENST00000264187.6	37	c.549A>G	CCDS1608.1																																																																																				PASS	0.403	NID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096647.2	NM_002508		7	19	7	19	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237659980	237659980	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:237659980G>A	ENST00000366574.2	+	20	2448	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	RYR2_ENST00000542537.1_Missense_Mutation_p.E695K|RYR2_ENST00000360064.6_Missense_Mutation_p.E709K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	711	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				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.E709K(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)			TGGAGGGGGCGAAGAGTGGGG	0.522																																						uc001hyl.1																			2	Substitution - Missense(2)		lung(2)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(2131-2133)GAA>AAA		cardiac muscle ryanodine receptor							131.0	136.0	134.0					1																	237659980		1947	4152	6099	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.chr1:237659980G>A	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.2131G>A	1.37:g.237659980G>A	ENSP00000355533:p.Glu711Lys						p.E711K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		20	2251	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	711			Cytoplasmic (By similarity).|B30.2/SPRY 1.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2131G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182751	0.78677	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.68903	-0.36;-0.36;-0.36	5.98	5.98	0.97165	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.080643	0.45867	D	0.000324	T	0.66761	0.2822	M	0.62266	1.93	0.80722	D	1	P	0.37985	0.613	B	0.35312	0.2	T	0.65747	-0.6093	10	0.38643	T	0.18	.	20.4581	0.99154	0.0:0.0:1.0:0.0	.	711	Q92736	RYR2_HUMAN	K	711;709;695	ENSP00000355533:E711K;ENSP00000353174:E709K;ENSP00000443798:E695K	ENSP00000353174:E709K	E	+	1	0	RYR2	235726603	1.000000	0.71417	0.600000	0.28864	0.997000	0.91878	9.813000	0.99286	2.835000	0.97688	0.650000	0.86243	GAA		PASS	0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		44	72	44	72	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240370862	240370862	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:240370862G>A	ENST00000319653.9	+	5	2980	c.2750G>A	c.(2749-2751)gGa>gAa	p.G917E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	917	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G1060E(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCTCTTCCCGGAGCGGGCATA	0.657																																						uc010pyd.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2749-2751)GGA>GAA		formin 2							41.0	46.0	44.0					1																	240370862		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240370862G>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2750G>A	1.37:g.240370862G>A	ENSP00000318884:p.Gly917Glu					FMN2_uc010pye.1_Missense_Mutation_p.G921E	p.G917E	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	2975	+	Ovarian(103;0.127)	all_cancers(173;0.013)	917			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.2750G>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	7.434	0.639308	0.14386	.	.	ENSG00000155816	ENST00000319653	T	0.67523	-0.27	3.78	1.87	0.25490	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	0.590598	0.14883	N	0.292834	T	0.70456	0.3226	M	0.87827	2.91	0.09310	N	1	P	0.38048	0.616	B	0.42163	0.378	T	0.63269	-0.6675	9	.	.	.	.	7.5848	0.27987	0.2259:0.0:0.7741:0.0	.	917	Q9NZ56	FMN2_HUMAN	E	917	ENSP00000318884:G917E	.	G	+	2	0	FMN2	238437485	0.935000	0.31712	0.004000	0.12327	0.010000	0.07245	1.350000	0.34010	0.924000	0.37069	0.305000	0.20034	GGA		PASS	0.657	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		50	110	50	110	---	---	---	---
SCCPDH	51097	broad.mit.edu	37	1	246923314	246923314	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr1:246923314T>A	ENST00000366510.3	+	8	1245	c.869T>A	c.(868-870)aTg>aAg	p.M290K		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	290						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.M290K(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		ATTAAGCTGATGTTTGCAGGA	0.343																																						uc001ibr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(868-870)ATG>AAG		saccharopine dehydrogenase (putative)							318.0	283.0	295.0					1																	246923314		2203	4300	6503	SO:0001583	missense	51097					midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	g.chr1:246923314T>A		CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.869T>A	1.37:g.246923314T>A	ENSP00000355467:p.Met290Lys						p.M290K	NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)	8	1216	+	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	290					Q8TAR0|Q9Y363	Missense_Mutation	SNP	ENST00000366510.3	37	c.869T>A	CCDS31084.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.567677	0.86439	.	.	ENSG00000143653	ENST00000366510;ENST00000366509	T	0.42513	0.97	5.37	5.37	0.77165	.	0.074229	0.85682	D	0.000000	T	0.56848	0.2013	M	0.81682	2.555	0.80722	D	1	P	0.46621	0.881	P	0.51266	0.664	T	0.57568	-0.7789	10	0.29301	T	0.29	.	15.3311	0.74212	0.0:0.0:0.0:1.0	.	290	Q8NBX0	SCPDL_HUMAN	K	290;121	ENSP00000355467:M290K	ENSP00000355466:M121K	M	+	2	0	SCCPDH	244989937	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.299000	0.78831	2.151000	0.67156	0.533000	0.62120	ATG		PASS	0.343	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096902.2	NM_016002		17	89	17	89	---	---	---	---
MYT1L	23040	broad.mit.edu	37	2	1796159	1796159	+	Silent	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:1796159G>A	ENST00000399161.2	-	24	4101	c.3354C>T	c.(3352-3354)ctC>ctT	p.L1118L	MYT1L_ENST00000407844.1_Silent_p.L116L|MYT1L_ENST00000428368.2_Silent_p.L1116L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1118					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.L1118L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCAGCTCGTGGAGGAGAGACT	0.537																																						uc002qxe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(1)	6						c.(3352-3354)CTC>CTT		myelin transcription factor 1-like							105.0	110.0	108.0					2																	1796159		2079	4222	6301	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1796159G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3354C>T	2.37:g.1796159G>A						MYT1L_uc002qxd.2_Silent_p.L1116L|MYT1L_uc010ewk.2_Silent_p.L116L	p.L1118L	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	24	4181	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	1118			Potential.		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.3354C>T																																																																																					PASS	0.537	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		8	10	8	10	---	---	---	---
DPYSL5	56896	broad.mit.edu	37	2	27147901	27147901	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:27147901G>T	ENST00000288699.6	+	3	566	c.408G>T	c.(406-408)tgG>tgT	p.W136C	DPYSL5_ENST00000401478.1_Missense_Mutation_p.W136C	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	136					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.W136C(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGATCACCTGGTGGGCACCCA	0.602																																						uc002rhu.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(406-408)TGG>TGT		dihydropyrimidinase-like 5							81.0	74.0	76.0					2																	27147901		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27147901G>T	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.408G>T	2.37:g.27147901G>T	ENSP00000288699:p.Trp136Cys					DPYSL5_uc002rhv.3_Missense_Mutation_p.W136C	p.W136C	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN			3	566	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		136					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.408G>T	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874587	0.72180	.	.	ENSG00000157851	ENST00000450961;ENST00000288699;ENST00000401478;ENST00000431402;ENST00000434719	T;D;D;T;T	0.90004	-1.05;-2.6;-2.6;-1.05;-1.05	4.92	4.92	0.64577	Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.93719	0.7993	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	D	0.73380	0.98	D	0.93898	0.7186	10	0.54805	T	0.06	-10.8462	17.2415	0.87014	0.0:0.0:1.0:0.0	.	136	Q9BPU6	DPYL5_HUMAN	C	136	ENSP00000407174:W136C;ENSP00000288699:W136C;ENSP00000385549:W136C;ENSP00000399581:W136C;ENSP00000413075:W136C	ENSP00000288699:W136C	W	+	3	0	DPYSL5	27001405	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.276000	0.95745	2.441000	0.82636	0.561000	0.74099	TGG		PASS	0.602	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		9	40	9	40	---	---	---	---
SLC30A3	7781	broad.mit.edu	37	2	27479355	27479355	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:27479355C>T	ENST00000233535.4	-	7	1269	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	SLC30A3_ENST00000447008.2_Missense_Mutation_p.R301Q	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	306					positive regulation of transport (GO:0051050)|regulation of sequestering of zinc ion (GO:0061088)|transmembrane transport (GO:0055085)|transport (GO:0006810)|zinc ion transmembrane transport (GO:0071577)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	zinc transporting ATPase activity (GO:0015633)	p.R306Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCGTATCCCGCACAGGTTC	0.617																																						uc002rjk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(916-918)CGG>CAG		solute carrier family 30 (zinc transporter),							77.0	67.0	70.0					2																	27479355		2203	4300	6503	SO:0001583	missense	7781				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity	g.chr2:27479355C>T	U76010	CCDS1743.1	2p23.3	2013-05-22			ENSG00000115194	ENSG00000115194		"""Solute carriers"""	11014	protein-coding gene	gene with protein product		602878		ZNT3		8962159	Standard	NM_003459		Approved		uc002rjj.3	Q99726	OTTHUMG00000128409	ENST00000233535.4:c.917G>A	2.37:g.27479355C>T	ENSP00000233535:p.Arg306Gln					SLC30A3_uc002rjj.2_Missense_Mutation_p.G152R|SLC30A3_uc010ylh.1_Missense_Mutation_p.R301Q	p.R306Q	NM_003459	NP_003450	Q99726	ZNT3_HUMAN			7	1103	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		306			Cytoplasmic (Potential).		Q8TC03	Missense_Mutation	SNP	ENST00000233535.4	37	c.917G>A	CCDS1743.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680914	0.68042	.	.	ENSG00000115194	ENST00000233535;ENST00000447008;ENST00000445870	T;T	0.66460	-0.21;-0.21	5.25	5.25	0.73442	.	0.057099	0.64402	D	0.000002	T	0.55986	0.1955	L	0.46157	1.445	0.36899	D	0.890294	P;P	0.38535	0.582;0.635	B;B	0.34452	0.115;0.183	T	0.64841	-0.6312	10	0.46703	T	0.11	-20.8246	10.217	0.43175	0.0:0.9092:0.0:0.0908	.	301;306	F5H3B7;Q99726	.;ZNT3_HUMAN	Q	306;301;243	ENSP00000233535:R306Q;ENSP00000415226:R301Q	ENSP00000233535:R306Q	R	-	2	0	SLC30A3	27332859	1.000000	0.71417	0.966000	0.40874	0.961000	0.63080	3.902000	0.56310	2.620000	0.88729	0.561000	0.74099	CGG		PASS	0.617	SLC30A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250189.2			20	67	20	67	---	---	---	---
MCFD2	90411	broad.mit.edu	37	2	47135052	47135052	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:47135052G>A	ENST00000409105.1	-	4	385	c.206C>T	c.(205-207)cCa>cTa	p.P69L	MCFD2_ENST00000493804.1_Intron|MCFD2_ENST00000409147.1_Missense_Mutation_p.P17L|MCFD2_ENST00000409973.1_Missense_Mutation_p.P69L|MCFD2_ENST00000409218.1_Missense_Mutation_p.P69L|MCFD2_ENST00000409800.1_Missense_Mutation_p.P17L|MCFD2_ENST00000319466.4_Missense_Mutation_p.P69L|MCFD2_ENST00000409913.1_Missense_Mutation_p.P17L|AC016722.4_ENST00000429761.1_RNA|MCFD2_ENST00000444761.2_Missense_Mutation_p.P50L|MCFD2_ENST00000409207.1_Missense_Mutation_p.P69L	NM_001171506.2	NP_001164977.1	Q8NI22	MCFD2_HUMAN	multiple coagulation factor deficiency 2	69	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)	p.P69L(1)		central_nervous_system(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		Antihemophilic Factor(DB00025)	CAATTCTTGTGGCGACATCTC	0.433																																						uc002rvk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(205-207)CCA>CTA		multiple coagulation factor deficiency 2	Antihemophilic Factor(DB00025)						161.0	141.0	148.0					2																	47135052		2203	4300	6503	SO:0001583	missense	90411				post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|vesicle-mediated transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	calcium ion binding	g.chr2:47135052G>A	AF475284	CCDS33192.1, CCDS54354.1, CCDS54355.1	2p21	2014-09-17			ENSG00000180398	ENSG00000180398		"""EF-hand domain containing"""	18451	protein-coding gene	gene with protein product		607788				12717434, 2463956	Standard	NM_139279		Approved	F5F8D, LMAN1IP, SDNSF	uc021vha.1	Q8NI22	OTTHUMG00000153100	ENST00000409105.1:c.206C>T	2.37:g.47135052G>A	ENSP00000386651:p.Pro69Leu					MCFD2_uc002rvl.2_Missense_Mutation_p.P17L|MCFD2_uc010fba.2_Missense_Mutation_p.P67L|MCFD2_uc010yof.1_Missense_Mutation_p.P50L	p.P69L	NM_139279	NP_644808	Q8NI22	MCFD2_HUMAN	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)		3	300	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	69			EF-hand 1.		A8K7W2|D6W5A9|E9PD95|Q53SS3|Q68D61|Q8N3M5	Missense_Mutation	SNP	ENST00000409105.1	37	c.206C>T	CCDS33192.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059934	0.76074	.	.	ENSG00000180398	ENST00000444761;ENST00000409105;ENST00000409913;ENST00000319466;ENST00000409800;ENST00000409207;ENST00000409973;ENST00000409147;ENST00000409218;ENST00000412438;ENST00000434262	D;D;D;D;D;D;D;D;D;D;D	0.90620	-1.88;-1.92;-2.02;-1.92;-2.02;-1.92;-1.92;-2.02;-1.92;-1.92;-2.7	5.46	4.59	0.56863	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92548	0.7633	M	0.77103	2.36	0.80722	D	1	B;P	0.49090	0.031;0.919	B;P	0.51229	0.081;0.663	D	0.91828	0.5473	10	0.36615	T	0.2	-0.239	14.1359	0.65287	0.0723:0.0:0.9277:0.0	.	50;69	E9PD95;Q8NI22	.;MCFD2_HUMAN	L	50;69;17;69;17;69;69;17;69;69;36	ENSP00000394647:P50L;ENSP00000386651:P69L;ENSP00000386941:P17L;ENSP00000317271:P69L;ENSP00000387202:P17L;ENSP00000386386:P69L;ENSP00000386279:P69L;ENSP00000387082:P17L;ENSP00000386261:P69L;ENSP00000402717:P69L;ENSP00000387360:P36L	ENSP00000317271:P69L	P	-	2	0	MCFD2	46988556	1.000000	0.71417	0.989000	0.46669	0.911000	0.54048	9.187000	0.94912	1.543000	0.49345	0.655000	0.94253	CCA		PASS	0.433	MCFD2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329518.1	NM_139279		16	50	16	50	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49381409	49381409	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:49381409C>T	ENST00000406846.2	-	1	267	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K	FSHR_ENST00000346173.3_Missense_Mutation_p.E50K|FSHR_ENST00000304421.4_Missense_Mutation_p.E50K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	50					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.E50K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	ACTCACAGTTCAATGGCATTC	0.453									Gonadal Dysgenesis, 46 XX																													uc002rww.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(148-150)GAA>AAA		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						66.0	65.0	66.0					2																	49381409		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49381409C>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.148G>A	2.37:g.49381409C>T	ENSP00000384708:p.Glu50Lys					FSHR_uc002rwx.2_Missense_Mutation_p.E50K|FSHR_uc010fbn.2_Missense_Mutation_p.E50K|FSHR_uc010fbo.1_RNA	p.E50K	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	222	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	50			Extracellular (Potential).|LRR 1.		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.148G>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815095	0.32053	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	5.46	5.46	0.80206	Leucine-rich repeat-containing N-terminal (1);	0.143888	0.46442	D	0.000288	D	0.89884	0.6844	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.83275	0.986;0.995;0.996	D	0.89066	0.3466	9	.	.	.	.	14.6913	0.69087	0.0:1.0:0.0:0.0	.	50;50;50	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	K	50	ENSP00000384708:E50K;ENSP00000333908:E50K;ENSP00000306780:E50K;ENSP00000415504:E50K	.	E	-	1	0	FSHR	49234913	0.997000	0.39634	0.972000	0.41901	0.303000	0.27691	4.110000	0.57831	2.840000	0.97914	0.655000	0.94253	GAA		PASS	0.453	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			4	26	4	26	---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73682351	73682351	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:73682351G>A	ENST00000264448.6	+	9	7711	c.7600G>A	c.(7600-7602)Gat>Aat	p.D2534N	ALMS1_ENST00000377715.1_Missense_Mutation_p.D2534N|ALMS1_ENST00000409009.1_Missense_Mutation_p.D2492N|ALMS1-IT1_ENST00000441587.2_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2534					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.D2534N(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATTAAATGAAGATGACAGGAG	0.363																																						uc002sje.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(7606-7608)GAT>AAT		Alstrom syndrome 1							132.0	123.0	126.0					2																	73682351		1844	4095	5939	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73682351G>A	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7600G>A	2.37:g.73682351G>A	ENSP00000264448:p.Asp2534Asn					ALMS1_uc002sjf.1_Missense_Mutation_p.D2492N|ALMS1_uc002sjg.2_Missense_Mutation_p.D1922N|ALMS1_uc002sjh.1_Missense_Mutation_p.D1922N	p.D2536N	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			11	7717	+			2534					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.7606G>A	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629682	0.87660	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.20069	3.03;3.03;2.1	5.36	5.36	0.76844	.	0.134162	0.34314	N	0.004065	T	0.39572	0.1083	L	0.48642	1.525	0.34877	D	0.744174	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74023	0.982;0.982;0.982	T	0.49051	-0.8979	10	0.72032	D	0.01	.	14.9541	0.71098	0.0:0.0:1.0:0.0	.	2534;2492;2534	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	N	2492;2534;2534	ENSP00000386627:D2492N;ENSP00000264448:D2534N;ENSP00000366944:D2534N	ENSP00000264448:D2534N	D	+	1	0	ALMS1	73535859	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.445000	0.66594	2.675000	0.91044	0.655000	0.94253	GAT		PASS	0.363	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		19	71	19	71	---	---	---	---
WDR54	84058	broad.mit.edu	37	2	74653636	74653636	+	IGR	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:74653636G>A	ENST00000348227.4	+	0	1147				RTKN_ENST00000305557.5_Silent_p.L463L|RTKN_ENST00000233330.6_Silent_p.L426L|RTKN_ENST00000272430.5_Silent_p.L476L	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54									p.L476L(1)|p.L463L(1)		breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						GGTGTCTCCAGCCTTGCGCCC	0.657																																						uc002sle.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1426-1428)CTG>TTG		rhotekin isoform a							28.0	30.0	29.0					2																	74653636		2201	4286	6487	SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74653636G>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74653636G>A						RTKN_uc002slc.2_Silent_p.L463L|RTKN_uc002sld.2_Silent_p.L426L	p.L476L	NM_001015055	NP_001015055	Q9BST9	RTKN_HUMAN			12	1543	-			476					D6W5I3|Q53H85|Q86V45	Silent	SNP	ENST00000348227.4	37	c.1426C>T	CCDS1940.1																																																																																				PASS	0.657	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		20	79	20	79	---	---	---	---
IL1RL1	9173	broad.mit.edu	37	2	102959613	102959613	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:102959613A>T	ENST00000233954.1	+	7	1071	c.800A>T	c.(799-801)cAa>cTa	p.Q267L	IL1RL1_ENST00000311734.2_Missense_Mutation_p.Q267L|IL1RL1_ENST00000409584.1_Missense_Mutation_p.Q253L|IL1RL1_ENST00000404917.2_Missense_Mutation_p.Q150L	NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	267	Ig-like C2-type 3.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)	p.Q267L(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CCAAGAATTCAACAAGAGGAA	0.413																																						uc002tbu.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(799-801)CAA>CTA		interleukin 1 receptor-like 1 isoform 1							92.0	95.0	94.0					2																	102959613		2203	4300	6503	SO:0001583	missense	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102959613A>T	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.800A>T	2.37:g.102959613A>T	ENSP00000233954:p.Gln267Leu					IL1RL1_uc010ywa.1_Missense_Mutation_p.Q150L|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.Q267L	p.Q267L	NM_016232	NP_057316	Q01638	ILRL1_HUMAN			7	1071	+			267			Extracellular (Potential).|Ig-like C2-type 3.		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Missense_Mutation	SNP	ENST00000233954.1	37	c.800A>T	CCDS2057.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.719386	0.48728	.	.	ENSG00000115602	ENST00000233954;ENST00000404917;ENST00000311734;ENST00000409584	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	5.19	2.69	0.31865	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.337130	0.04614	N	0.400740	T	0.25005	0.0607	M	0.76838	2.35	0.09310	N	0.999991	P;P;P	0.50369	0.934;0.919;0.728	P;P;B	0.51101	0.659;0.528;0.186	T	0.22521	-1.0214	10	0.11485	T	0.65	.	5.3337	0.15945	0.7305:0.1771:0.0923:0.0	.	150;267;267	B4E0I3;Q01638-2;Q01638	.;.;ILRL1_HUMAN	L	267;150;267;253	ENSP00000233954:Q267L;ENSP00000384822:Q150L;ENSP00000310371:Q267L;ENSP00000386618:Q253L	ENSP00000233954:Q267L	Q	+	2	0	IL1RL1	102326045	0.877000	0.30153	0.111000	0.21465	0.352000	0.29268	2.081000	0.41596	0.996000	0.38943	0.477000	0.44152	CAA		PASS	0.413	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		25	65	25	65	---	---	---	---
GPR45	11250	broad.mit.edu	37	2	105858475	105858475	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:105858475G>A	ENST00000258456.1	+	1	276	c.160G>A	c.(160-162)Gtg>Atg	p.V54M		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V54M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GGGCAACACTGTGGTCTGCAT	0.627																																						uc002tco.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(160-162)GTG>ATG		G protein-coupled receptor 45							144.0	126.0	132.0					2																	105858475		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858475G>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.160G>A	2.37:g.105858475G>A	ENSP00000258456:p.Val54Met						p.V54M	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	276	+			54			Helical; Name=1; (Potential).		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.160G>A	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155051	0.57259	.	.	ENSG00000135973	ENST00000258456	T	0.73047	-0.71	5.6	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.069394	0.56097	D	0.000029	T	0.72036	0.3411	L	0.45352	1.415	0.38446	D	0.946844	D	0.57257	0.979	D	0.63703	0.917	T	0.74583	-0.3617	10	0.56958	D	0.05	-28.907	3.9132	0.09211	0.3309:0.0:0.6691:0.0	.	54	Q9Y5Y3	GPR45_HUMAN	M	54	ENSP00000258456:V54M	ENSP00000258456:V54M	V	+	1	0	GPR45	105224907	0.913000	0.31002	0.900000	0.35374	0.943000	0.58893	2.178000	0.42519	2.641000	0.89580	0.462000	0.41574	GTG		PASS	0.627	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		6	226	6	226	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109383853	109383853	+	Silent	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:109383853G>A	ENST00000283195.6	+	20	6984	c.6858G>A	c.(6856-6858)caG>caA	p.Q2286Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2286					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.Q2286Q(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AGTTGAATCAGAGTGGGACTT	0.393																																						uc002tem.3																		RANBP2/ALK(16)	2	Substitution - coding silent(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(6856-6858)CAG>CAA		RAN binding protein 2							52.0	59.0	57.0					2																	109383853		2190	4272	6462	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109383853G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6858G>A	2.37:g.109383853G>A							p.Q2286Q	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	6984	+			2286					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.6858G>A	CCDS2079.1																																																																																				PASS	0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		28	107	28	107	---	---	---	---
BUB1	699	broad.mit.edu	37	2	111428129	111428129	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:111428129G>A	ENST00000302759.6	-	5	557	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F	BUB1_ENST00000409311.1_Missense_Mutation_p.L147F|BUB1_ENST00000535254.1_Missense_Mutation_p.L127F	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	147	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L147F(1)		breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		GTTTCAGTGAGGCGTGTCTGA	0.353																																						uc002tgc.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1)	7						c.(439-441)CTC>TTC		budding uninhibited by benzimidazoles 1							139.0	142.0	141.0					2																	111428129		2203	4300	6503	SO:0001583	missense	699				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:111428129G>A	AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.439C>T	2.37:g.111428129G>A	ENSP00000302530:p.Leu147Phe					BUB1_uc010yxh.1_Missense_Mutation_p.L127F|BUB1_uc010fkb.2_Missense_Mutation_p.L147F|BUB1_uc002tgd.2_Missense_Mutation_p.L147F	p.L147F	NM_004336	NP_004327	O43683	BUB1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0556)	5	551	-		Ovarian(717;0.0822)	147			BUB1 N-terminal.		E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	ENST00000302759.6	37	c.439C>T	CCDS33273.1	.	.	.	.	.	.	.	.	.	.	G	7.162	0.585995	0.13749	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432;ENST00000447014	T;T;T;T	0.48522	2.06;1.34;2.32;0.81	5.72	3.9	0.45041	Mad3/BUB1 homology region 1 (1);	0.516231	0.22638	N	0.057496	T	0.44350	0.1289	L	0.54965	1.715	0.09310	N	0.999996	B;B;B	0.20887	0.039;0.022;0.049	B;B;B	0.15052	0.012;0.006;0.009	T	0.35895	-0.9770	10	0.45353	T	0.12	-4.5583	14.5823	0.68300	0.0:0.4667:0.5333:0.0	.	127;147;147	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	F	127;147;147;147;138	ENSP00000441013:L127F;ENSP00000386701:L147F;ENSP00000302530:L147F;ENSP00000402883:L138F	ENSP00000302530:L147F	L	-	1	0	BUB1	111144600	0.116000	0.22171	0.496000	0.27539	0.835000	0.47333	0.439000	0.21575	0.842000	0.35045	0.655000	0.94253	CTC		PASS	0.353	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331925.1	NM_004336		20	92	20	92	---	---	---	---
FOXD4L1	200350	broad.mit.edu	37	2	114257217	114257217	+	Silent	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:114257217C>G	ENST00000306507.5	+	1	557	c.384C>G	c.(382-384)ctC>ctG	p.L128L		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	128					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L128L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						ACAAGCGCCTCACGCTCAGCG	0.647																																						uc002tjw.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(382-384)CTC>CTG		forkhead box D4-like 1							40.0	53.0	48.0					2																	114257217		2177	4225	6402	SO:0001819	synonymous_variant	200350				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr2:114257217C>G	AF452723	CCDS2117.1	2q14.1	2008-02-05			ENSG00000184492	ENSG00000184492			18521	protein-coding gene	gene with protein product		611084				12421752, 15233989	Standard	NM_012184		Approved	FOXD5	uc002tjw.4	Q9NU39	OTTHUMG00000131359	ENST00000306507.5:c.384C>G	2.37:g.114257217C>G							p.L128L	NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN			1	557	+			128			Fork-head.		B3KWN1|B9EGF3	Silent	SNP	ENST00000306507.5	37	c.384C>G	CCDS2117.1																																																																																				PASS	0.647	FOXD4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254148.1	NM_012184		26	341	26	341	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	137917884	137917884	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:137917884T>G	ENST00000409968.1	+	6	1649	c.1471T>G	c.(1471-1473)Tca>Gca	p.S491A	THSD7B_ENST00000272643.3_Missense_Mutation_p.S491A|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.S460A			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	491	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.S491A(1)|p.S460A(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATCTTCCTGGTCAGCCTGGGG	0.517																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1378-1380)TCA>GCA		thrombospondin, type I, domain containing 7B							134.0	134.0	134.0					2																	137917884		2040	4196	6236	SO:0001583	missense	80731							g.chr2:137917884T>G			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1471T>G	2.37:g.137917884T>G	ENSP00000387145:p.Ser491Ala					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.S350A	p.S460A	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	5	1378	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1378T>G		.	.	.	.	.	.	.	.	.	.	T	16.71	3.198042	0.58126	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.64803	-0.12;-0.12;-0.12	5.96	4.8	0.61643	.	0.061993	0.64402	D	0.000002	T	0.74854	0.3771	M	0.91561	3.22	0.80722	D	1	D;D	0.61080	0.989;0.969	P;P	0.51742	0.678;0.678	T	0.78086	-0.2341	10	0.56958	D	0.05	.	9.1807	0.37141	0.0:0.0652:0.1249:0.8099	.	491;460	Q9C0I4;C9JKN6	THS7B_HUMAN;.	A	491;491;460	ENSP00000387145:S491A;ENSP00000272643:S491A;ENSP00000413841:S460A	ENSP00000272643:S491A	S	+	1	0	THSD7B	137634354	0.999000	0.42202	1.000000	0.80357	0.512000	0.34134	1.428000	0.34892	1.065000	0.40693	0.528000	0.53228	TCA		PASS	0.517	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		13	54	13	54	---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	137917917	137917917	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:137917917C>G	ENST00000409968.1	+	6	1682	c.1504C>G	c.(1504-1506)Cat>Gat	p.H502D	THSD7B_ENST00000272643.3_Missense_Mutation_p.H502D|THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.H471D			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	502	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.H502D(1)|p.H471D(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGAAAACTGTCATGATCCTCA	0.498																																						uc002tva.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(1411-1413)CAT>GAT		thrombospondin, type I, domain containing 7B							117.0	118.0	118.0					2																	137917917		2059	4205	6264	SO:0001583	missense	80731							g.chr2:137917917C>G			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.1504C>G	2.37:g.137917917C>G	ENSP00000387145:p.His502Asp					THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.H361D	p.H471D	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	5	1411	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.1411C>G		.	.	.	.	.	.	.	.	.	.	C	3.626	-0.076510	0.07184	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.20463	2.6;2.46;2.07	5.96	5.07	0.68467	.	0.690452	0.14942	N	0.289432	T	0.10981	0.0268	N	0.03324	-0.35	0.80722	D	1	B;B	0.13594	0.008;0.008	B;B	0.17098	0.017;0.017	T	0.14448	-1.0472	10	0.12103	T	0.63	.	16.3476	0.83150	0.1331:0.8669:0.0:0.0	.	502;471	Q9C0I4;C9JKN6	THS7B_HUMAN;.	D	502;502;471	ENSP00000387145:H502D;ENSP00000272643:H502D;ENSP00000413841:H471D	ENSP00000272643:H502D	H	+	1	0	THSD7B	137634387	0.593000	0.26840	0.866000	0.34008	0.389000	0.30415	1.120000	0.31271	1.488000	0.48433	0.650000	0.86243	CAT		PASS	0.498	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		4	46	4	46	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141457836	141457836	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:141457836C>G	ENST00000389484.3	-	41	7753	c.6782G>C	c.(6781-6783)aGa>aCa	p.R2261T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2261					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.R2261T(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)		AATTACTTGTCTGTCTTCCCA	0.308										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.(6781-6783)AGA>ACA		low density lipoprotein-related protein 1B							83.0	86.0	85.0					2																	141457836		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141457836C>G	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.6782G>C	2.37:g.141457836C>G	ENSP00000374135:p.Arg2261Thr	TSP Lung(27;0.18)					p.R2261T	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)	41	7754	-		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)	2261			Extracellular (Potential).|LDL-receptor class B 23.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.6782G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383847	0.61845	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90844	-2.74	4.47	4.47	0.54385	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	U	0.000000	D	0.93864	0.8037	M	0.68593	2.085	0.58432	D	0.99999	D	0.71674	0.998	D	0.76071	0.987	D	0.91751	0.5412	10	0.14656	T	0.56	.	17.4918	0.87705	0.0:1.0:0.0:0.0	.	2261	Q9NZR2	LRP1B_HUMAN	T	2261;2199	ENSP00000374135:R2261T	ENSP00000374135:R2261T	R	-	2	0	LRP1B	141174306	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.710000	0.84655	2.176000	0.68965	0.585000	0.79938	AGA		PASS	0.308	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		12	34	12	34	---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152319636	152319636	+	Nonsense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:152319636C>G	ENST00000243326.5	+	29	4085	c.3602C>G	c.(3601-3603)tCa>tGa	p.S1201*	RIF1_ENST00000430328.2_Nonsense_Mutation_p.S1201*|RIF1_ENST00000428287.2_Nonsense_Mutation_p.S1201*|RIF1_ENST00000453091.2_Nonsense_Mutation_p.S1201*|RIF1_ENST00000444746.2_Nonsense_Mutation_p.S1201*			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)	p.S1201*(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGCAGTAGTTCAGTTTCTAAT	0.363																																						uc002txm.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15						c.(3601-3603)TCA>TGA		RAP1 interacting factor 1							99.0	97.0	98.0					2																	152319636		2203	4300	6503	SO:0001587	stop_gained	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152319636C>G	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.3602C>G	2.37:g.152319636C>G	ENSP00000243326:p.Ser1201*					RIF1_uc002txl.2_Nonsense_Mutation_p.S1201*|RIF1_uc002txn.2_Nonsense_Mutation_p.S1201*|RIF1_uc002txo.2_Nonsense_Mutation_p.S1201*|RIF1_uc002txp.2_RNA	p.S1201*	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	30	3732	+			1201					A0AVS0|Q9NS16	Nonsense_Mutation	SNP	ENST00000243326.5	37	c.3602C>G	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	C	37	6.292517	0.97449	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	.	.	.	4.95	4.08	0.47627	.	0.192819	0.46758	D	0.000280	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-3.7172	13.1385	0.59423	0.0:0.9213:0.0:0.0787	.	.	.	.	X	1201	.	ENSP00000243326:S1201X	S	+	2	0	RIF1	152027882	0.991000	0.36638	0.139000	0.22197	0.045000	0.14185	3.140000	0.50585	1.076000	0.40961	-0.244000	0.11960	TCA		PASS	0.363	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			3	72	3	72	---	---	---	---
NR4A2	4929	broad.mit.edu	37	2	157186333	157186333	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:157186333G>T	ENST00000339562.4	-	3	728	c.366C>A	c.(364-366)taC>taA	p.Y122*	NR4A2_ENST00000429376.1_Nonsense_Mutation_p.Y59*|NR4A2_ENST00000409572.1_Nonsense_Mutation_p.Y122*|NR4A2_ENST00000539077.1_Nonsense_Mutation_p.Y133*|NR4A2_ENST00000409108.2_Nonsense_Mutation_p.Y122*|NR4A2_ENST00000426264.1_Nonsense_Mutation_p.Y59*	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	122	Gln-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.Y122*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						AGGAGGGCTTGTAGTAAACCG	0.607																																						uc002tyz.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3	GRCh37	CD003293	NR4A2	D		c.(364-366)TAC>TAA		nuclear receptor subfamily 4, group A, member 2							67.0	73.0	71.0					2																	157186333		2203	4300	6503	SO:0001587	stop_gained	4929				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157186333G>T	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.366C>A	2.37:g.157186333G>T	ENSP00000344479:p.Tyr122*					NR4A2_uc002tyx.3_Nonsense_Mutation_p.Y59*|NR4A2_uc010zcf.1_Nonsense_Mutation_p.Y122*|NR4A2_uc010zcg.1_5'Flank	p.Y122*	NM_006186	NP_006177	P43354	NR4A2_HUMAN			3	788	-			122			Gln-rich.		Q16311|Q53RZ2|Q6NXU0	Nonsense_Mutation	SNP	ENST00000339562.4	37	c.366C>A	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	G	32	5.160205	0.94727	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376;ENST00000424077;ENST00000421709	.	.	.	5.94	5.94	0.96194	.	2.403980	0.01319	N	0.010865	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3658	0.98878	0.0:0.0:1.0:0.0	.	.	.	.	X	122;59;122;133;122;59;122;59	.	ENSP00000344479:Y122X	Y	-	3	2	NR4A2	156894579	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.895000	0.87343	2.820000	0.97059	0.650000	0.86243	TAC		PASS	0.607	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2			6	196	6	196	---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165987921	165987921	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:165987921T>G	ENST00000360093.3	-	16	2889	c.2398A>C	c.(2398-2400)Act>Cct	p.T800P	SCN3A_ENST00000409101.3_Missense_Mutation_p.T751P|SCN3A_ENST00000283254.7_Missense_Mutation_p.T800P	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	800					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.T800P(1)|p.T751P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAAATCCCAGTAAAGACCTAA	0.338																																						uc002ucx.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(2398-2400)ACT>CCT		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						67.0	72.0	70.0					2																	165987921		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165987921T>G	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2398A>C	2.37:g.165987921T>G	ENSP00000353206:p.Thr800Pro					SCN3A_uc002ucy.2_Missense_Mutation_p.T751P|SCN3A_uc002ucz.2_Missense_Mutation_p.T751P|SCN3A_uc002uda.1_Missense_Mutation_p.T620P|SCN3A_uc002udb.1_Missense_Mutation_p.T620P	p.T800P	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			16	2890	-			800			Helical; Name=S2 of repeat II; (Potential).		Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.2398A>C		.	.	.	.	.	.	.	.	.	.	T	26.1	4.701735	0.88924	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98889	-5.21;-5.21;-5.21;-5.21	5.82	5.82	0.92795	Ion transport (1);	0.000000	0.64402	D	0.000013	D	0.99551	0.9839	H	0.98936	4.375	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.999;1.0	D;D;D;D;D	0.85130	0.997;0.997;0.994;0.994;0.997	D	0.97744	1.0210	10	0.87932	D	0	.	16.1758	0.81851	0.0:0.0:0.0:1.0	.	800;751;751;751;800	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	P	800;800;751;751	ENSP00000353206:T800P;ENSP00000283254:T800P;ENSP00000386726:T751P;ENSP00000403348:T751P	ENSP00000283254:T800P	T	-	1	0	SCN3A	165696167	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.948000	0.87774	2.225000	0.72522	0.477000	0.44152	ACT		PASS	0.338	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		3	52	3	52	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179576712	179576712	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:179576712C>A	ENST00000591111.1	-	94	27118	c.26894G>T	c.(26893-26895)aGc>aTc	p.S8965I	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S9282I|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S8038I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13109	Ig-like 72.				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.S8038I(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)			TTCTCCCACGCTGTTTTCAGC	0.333																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	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.(24112-24114)AGC>ATC		titin isoform N2-A							99.0	100.0	100.0					2																	179576712		1838	4094	5932	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179576712C>A	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.26894G>T	2.37:g.179576712C>A	ENSP00000465570:p.Ser8965Ile					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S4699I	p.S8038I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		93	24337	-			8965					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.24113G>T		.	.	.	.	.	.	.	.	.	.	C	6.972	0.549393	0.13374	.	.	ENSG00000155657	ENST00000342992	T	0.70164	-0.46	5.47	5.47	0.80525	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.63686	0.2532	M	0.62723	1.935	0.58432	D	0.999999	P	0.34864	0.473	B	0.34991	0.193	T	0.67692	-0.5605	9	0.87932	D	0	.	11.2807	0.49192	0.1319:0.7242:0.1439:0.0	.	8965	Q8WZ42	TITIN_HUMAN	I	8038	ENSP00000343764:S8038I	ENSP00000343764:S8038I	S	-	2	0	TTN	179284957	0.877000	0.30153	1.000000	0.80357	0.398000	0.30690	1.526000	0.35964	2.704000	0.92352	0.655000	0.94253	AGC		PASS	0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	36	5	36	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185800831	185800831	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:185800831C>A	ENST00000302277.6	+	4	1302	c.708C>A	c.(706-708)taC>taA	p.Y236*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	236							metal ion binding (GO:0046872)	p.Y236*(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TCTCTGAATACAGTGATGATG	0.443																																						uc002uph.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(706-708)TAC>TAA		zinc finger protein 804A							82.0	80.0	80.0					2																	185800831		2203	4299	6502	SO:0001587	stop_gained	91752					intracellular	zinc ion binding	g.chr2:185800831C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.708C>A	2.37:g.185800831C>A	ENSP00000303252:p.Tyr236*						p.Y236*	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	1302	+			236					A7E253|Q6ZN26	Nonsense_Mutation	SNP	ENST00000302277.6	37	c.708C>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	39	7.748660	0.98468	.	.	ENSG00000170396	ENST00000302277	.	.	.	5.22	4.34	0.51931	.	0.725858	0.12368	N	0.475003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1857	9.3409	0.38079	0.0:0.818:0.0:0.182	.	.	.	.	X	236	.	ENSP00000303252:Y236X	Y	+	3	2	ZNF804A	185509076	0.195000	0.23338	0.715000	0.30552	0.757000	0.42996	0.226000	0.17776	1.196000	0.43129	-0.218000	0.12543	TAC		PASS	0.443	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		28	75	28	75	---	---	---	---
CCDC150	284992	broad.mit.edu	37	2	197521510	197521510	+	Silent	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:197521510C>G	ENST00000389175.4	+	3	465	c.330C>G	c.(328-330)ctC>ctG	p.L110L	CCDC150_ENST00000472405.2_Silent_p.L7L|CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000423093.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	110								p.L110L(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTGAAAGCCTCATGCAGTCCT	0.383																																						uc002utp.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(328-330)CTC>CTG		coiled-coil domain containing 150							118.0	114.0	115.0					2																	197521510		1855	4103	5958	SO:0001819	synonymous_variant	284992							g.chr2:197521510C>G		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.330C>G	2.37:g.197521510C>G						CCDC150_uc002uto.1_Silent_p.L110L|CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	p.L110L	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN			3	465	+			110			Potential.		Q6P5U6|Q6P663|Q8N8V5	Silent	SNP	ENST00000389175.4	37	c.330C>G	CCDS46478.1																																																																																				PASS	0.383	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		8	25	8	25	---	---	---	---
SGOL2	151246	broad.mit.edu	37	2	201437262	201437262	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:201437262T>G	ENST00000357799.4	+	7	2291	c.2193T>G	c.(2191-2193)aaT>aaG	p.N731K		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	731					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.N731K(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ATTTAGATAATGACAAAAGTA	0.338																																						uc002uvw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(2191-2193)AAT>AAG		shugoshin-like 2 isoform 1							47.0	43.0	45.0					2																	201437262		1813	4065	5878	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437262T>G	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2193T>G	2.37:g.201437262T>G	ENSP00000350447:p.Asn731Lys					SGOL2_uc010zhd.1_Missense_Mutation_p.N731K|SGOL2_uc010zhe.1_Missense_Mutation_p.N731K	p.N731K	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			7	2306	+			731					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.2193T>G	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	T	1.971	-0.436602	0.04636	.	.	ENSG00000163535	ENST00000357799	T	0.13778	2.56	5.0	1.3	0.21679	.	1.244940	0.05456	N	0.550280	T	0.15305	0.0369	L	0.59436	1.845	0.09310	N	1	B;B;B	0.19583	0.037;0.037;0.037	B;B;B	0.18561	0.022;0.022;0.022	T	0.36578	-0.9742	10	0.72032	D	0.01	-2.4348	4.1271	0.10133	0.0:0.1835:0.1772:0.6393	.	731;731;731	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	K	731	ENSP00000350447:N731K	ENSP00000350447:N731K	N	+	3	2	SGOL2	201145507	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	0.151000	0.16283	0.139000	0.18822	-0.334000	0.08254	AAT		PASS	0.338	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524		9	27	9	27	---	---	---	---
AOX1	316	broad.mit.edu	37	2	201477490	201477490	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:201477490G>C	ENST00000374700.2	+	14	1663	c.1422G>C	c.(1420-1422)aaG>aaC	p.K474N	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	474					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.K474N(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TCTGTGCCAAGAATTCCTGCC	0.443																																						uc002uvx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(1420-1422)AAG>AAC		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)						74.0	69.0	71.0					2																	201477490		2203	4300	6503	SO:0001583	missense	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201477490G>C	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1422G>C	2.37:g.201477490G>C	ENSP00000363832:p.Lys474Asn					AOX1_uc010zhf.1_Missense_Mutation_p.K30N|AOX1_uc010fsu.2_5'UTR	p.K474N	NM_001159	NP_001150	Q06278	ADO_HUMAN			14	1523	+			474					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	ENST00000374700.2	37	c.1422G>C	CCDS33360.1	.	.	.	.	.	.	.	.	.	.	G	8.670	0.902604	0.17760	.	.	ENSG00000138356	ENST00000374700	T	0.25414	1.8	5.94	-1.8	0.07907	CO dehydrogenase flavoprotein, C-terminal (3);	0.518154	0.23008	N	0.052982	T	0.12987	0.0315	L	0.35341	1.055	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.16867	-1.0388	10	0.23302	T	0.38	-1.2374	3.0585	0.06191	0.3726:0.1003:0.4242:0.1028	.	474	Q06278	ADO_HUMAN	N	474	ENSP00000363832:K474N	ENSP00000363832:K474N	K	+	3	2	AOX1	201185735	0.000000	0.05858	0.368000	0.25939	0.805000	0.45488	-0.407000	0.07178	-0.326000	0.08564	-0.258000	0.10820	AAG		PASS	0.443	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		5	25	5	25	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209190867	209190867	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:209190867C>G	ENST00000264380.4	+	20	3490	c.3332C>G	c.(3331-3333)tCt>tGt	p.S1111C		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1111					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.S1111C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGGGATCTCTCTGGACTTCAG	0.453																																						uc002vcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(3331-3333)TCT>TGT		phosphatidylinositol-3-phosphate 5-kinase type							68.0	71.0	70.0					2																	209190867		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190867C>G	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3332C>G	2.37:g.209190867C>G	ENSP00000264380:p.Ser1111Cys					PIKFYVE_uc010fun.1_Missense_Mutation_p.S792C|PIKFYVE_uc002vcy.1_Missense_Mutation_p.S1055C	p.S1111C	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			20	3490	+			1111					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.3332C>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.562183	0.65538	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.31510	1.49;1.67	6.17	6.17	0.99709	.	0.441671	0.25830	N	0.028040	T	0.43322	0.1242	M	0.63843	1.955	0.80722	D	1	P;P	0.38642	0.641;0.621	B;B	0.43916	0.436;0.219	T	0.04946	-1.0916	9	.	.	.	-11.3234	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1111;1055	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	C	1111;687;1055	ENSP00000264380:S1111C;ENSP00000405736:S1055C	.	S	+	2	0	PIKFYVE	208899112	0.523000	0.26274	0.950000	0.38849	0.992000	0.81027	4.490000	0.60319	2.941000	0.99782	0.655000	0.94253	TCT		PASS	0.453	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		12	47	12	47	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209192962	209192962	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:209192962C>G	ENST00000264380.4	+	21	3835	c.3677C>G	c.(3676-3678)tCt>tGt	p.S1226C		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1226					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.S1226C(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGCAGCTCTTCTGCCCAGTCC	0.453																																						uc002vcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(3676-3678)TCT>TGT		phosphatidylinositol-3-phosphate 5-kinase type							226.0	190.0	202.0					2																	209192962		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209192962C>G	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3677C>G	2.37:g.209192962C>G	ENSP00000264380:p.Ser1226Cys					PIKFYVE_uc002vcy.1_Missense_Mutation_p.S1170C	p.S1226C	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			21	3835	+			1226					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.3677C>G	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859360	0.91433	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.33654	1.4;1.4	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.987	T	0.43621	-0.9380	10	0.20519	T	0.43	-18.2115	19.8155	0.96566	0.0:1.0:0.0:0.0	.	1226;1170	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	C	1226;802;1170	ENSP00000264380:S1226C;ENSP00000405736:S1170C	ENSP00000264380:S1226C	S	+	2	0	PIKFYVE	208901207	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	7.818000	0.86416	2.682000	0.91365	0.650000	0.86243	TCT		PASS	0.453	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		35	82	35	82	---	---	---	---
PER2	8864	broad.mit.edu	37	2	239184406	239184406	+	Silent	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr2:239184406G>A	ENST00000254657.3	-	4	705	c.426C>T	c.(424-426)ctC>ctT	p.L142L	PER2_ENST00000355768.2_Silent_p.L142L|PER2_ENST00000440245.1_Silent_p.L142L|PER2_ENST00000254658.3_Silent_p.L142L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	142					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|fatty acid metabolic process (GO:0006631)|gluconeogenesis (GO:0006094)|glycogen biosynthetic process (GO:0005978)|histone H3 deacetylation (GO:0070932)|lactate biosynthetic process (GO:0019249)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of DNA-templated transcription, termination (GO:0060567)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of glutamate uptake involved in transmission of nerve impulse (GO:0051946)|regulation of insulin secretion (GO:0050796)|regulation of neurogenesis (GO:0050767)|regulation of vasoconstriction (GO:0019229)|response to ischemia (GO:0002931)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	pre-mRNA binding (GO:0036002)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)	p.L142L(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCACGCTCCTGAGGGCGTACT	0.493																																						uc002vyc.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|breast(1)	2						c.(424-426)CTC>CTT		period 2							238.0	223.0	228.0					2																	239184406		2203	4300	6503	SO:0001819	synonymous_variant	8864				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	g.chr2:239184406G>A	AB002345	CCDS2528.1	2q37.3	2012-12-13	2012-12-13		ENSG00000132326	ENSG00000132326			8846	protein-coding gene	gene with protein product		603426	"""period (Drosophila) homolog 2"", ""period homolog 2 (Drosophila)"""			9427249, 17218255	Standard	NM_022817		Approved	KIAA0347	uc002vyc.3	O15055	OTTHUMG00000152884	ENST00000254657.3:c.426C>T	2.37:g.239184406G>A						PER2_uc010znv.1_Silent_p.L142L|PER2_uc010znw.1_Silent_p.L142L|PER2_uc010fyx.1_Silent_p.L142L	p.L142L	NM_022817	NP_073728	O15055	PER2_HUMAN		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)	4	663	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)	142					A2I2P7|Q4ZG49|Q6DT41|Q9UQ45	Silent	SNP	ENST00000254657.3	37	c.426C>T	CCDS2528.1																																																																																				PASS	0.493	PER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257167.1	NM_022817		10	222	10	222	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38627355	38627355	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr3:38627355C>T	ENST00000333535.4	-	16	2763	c.2614G>A	c.(2614-2616)Gac>Aac	p.D872N	SCN5A_ENST00000455624.2_Missense_Mutation_p.D872N|SCN5A_ENST00000443581.1_Missense_Mutation_p.D872N|SCN5A_ENST00000425664.1_Missense_Mutation_p.D872N|SCN5A_ENST00000450102.2_Missense_Mutation_p.D872N|SCN5A_ENST00000449557.2_Missense_Mutation_p.D872N|SCN5A_ENST00000451551.2_Missense_Mutation_p.D872N|SCN5A_ENST00000413689.1_Missense_Mutation_p.D872N|SCN5A_ENST00000423572.2_Missense_Mutation_p.D872N|SCN5A_ENST00000414099.2_Missense_Mutation_p.D872N			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	872					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.D872N(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)	AGGCCTGAGTCGCTGTCCCTC	0.552																																						uc003cio.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9						c.(2614-2616)GAC>AAC		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)						171.0	167.0	168.0					3																	38627355		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.chr3:38627355C>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.2614G>A	3.37:g.38627355C>T	ENSP00000328968:p.Asp872Asn					SCN5A_uc003cin.2_Missense_Mutation_p.D872N|SCN5A_uc003cil.3_Missense_Mutation_p.D872N|SCN5A_uc010hhi.2_Missense_Mutation_p.D872N|SCN5A_uc010hhk.2_Missense_Mutation_p.D872N|SCN5A_uc011ayr.1_Missense_Mutation_p.D872N|SCN5A_uc010hhj.1_Missense_Mutation_p.D483N	p.D872N	NM_198056	NP_932173	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	16	2808	-	Medulloblastoma(35;0.163)		872					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.2614G>A	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825023	0.32237	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98362	-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89;-4.89	4.17	3.26	0.37387	Ion transport (1);	0.417568	0.20107	N	0.099114	D	0.95395	0.8505	N	0.02751	-0.505	0.09310	N	1	P;D;P;D;D;D;D	0.89917	0.797;0.98;0.89;0.999;0.999;0.981;1.0	B;P;B;D;D;B;D	0.79784	0.071;0.59;0.182;0.993;0.936;0.405;0.919	D	0.88495	0.3078	10	0.19147	T	0.46	.	8.0266	0.30440	0.0:0.7859:0.0:0.2141	.	872;872;872;872;872;872;872	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	N	872	ENSP00000398962:D872N;ENSP00000398266:D872N;ENSP00000410257:D872N;ENSP00000388797:D872N;ENSP00000397915:D872N;ENSP00000416634:D872N;ENSP00000328968:D872N;ENSP00000399524:D872N;ENSP00000403355:D872N;ENSP00000413996:D872N	ENSP00000328968:D872N	D	-	1	0	SCN5A	38602359	0.000000	0.05858	0.850000	0.33497	0.961000	0.63080	-0.240000	0.08952	2.169000	0.68431	0.462000	0.41574	GAC		PASS	0.552	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		5	121	5	121	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49699829	49699829	+	Silent	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr3:49699829C>T	ENST00000296452.4	+	6	10665	c.10551C>T	c.(10549-10551)gcC>gcT	p.A3517A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3517					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.A3517A(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCGCCCTGCCGGAGGGCCCC	0.677																																						uc003cxe.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(10549-10551)GCC>GCT		bassoon protein							26.0	30.0	29.0					3																	49699829		2203	4297	6500	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49699829C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.10551C>T	3.37:g.49699829C>T							p.A3517A	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	10665	+			3517					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.10551C>T	CCDS2800.1																																																																																				PASS	0.677	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		22	38	22	38	---	---	---	---
ARHGEF3	50650	broad.mit.edu	37	3	56787587	56787587	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr3:56787587A>G	ENST00000296315.3	-	4	551	c.383T>C	c.(382-384)tTt>tCt	p.F128S	ARHGEF3_ENST00000338458.4_Missense_Mutation_p.F160S|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.F134S|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.F128S|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.F134S|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.F99S	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	128	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.F128S(2)|p.F160S(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GGAAAGCTCAAAGATCGCCTG	0.368																																						uc003dig.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(382-384)TTT>TCT		Rho guanine nucleotide exchange factor 3 isoform							118.0	121.0	120.0					3																	56787587		2203	4300	6503	SO:0001583	missense	50650				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr3:56787587A>G	AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.383T>C	3.37:g.56787587A>G	ENSP00000296315:p.Phe128Ser					ARHGEF3_uc011bew.1_Missense_Mutation_p.F128S|ARHGEF3_uc003dih.2_Missense_Mutation_p.F160S|ARHGEF3_uc011bev.1_Missense_Mutation_p.F99S|ARHGEF3_uc003dif.2_Missense_Mutation_p.F134S|ARHGEF3_uc010hmy.1_5'UTR|ARHGEF3_uc003dii.2_Missense_Mutation_p.F128S	p.F128S	NM_019555	NP_062455	Q9NR81	ARHG3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)	4	552	-			128			DH.		A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	c.383T>C	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682628	0.88542	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779	T;T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05	5.63	5.63	0.86233	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.71904	0.3395	M	0.69248	2.105	0.80722	D	1	D;D;D;D;D;D	0.59357	0.967;0.971;0.971;0.982;0.985;0.982	P;P;P;P;P;P	0.54499	0.754;0.75;0.459;0.639;0.754;0.639	T	0.73129	-0.4080	10	0.45353	T	0.12	-0.6084	15.8097	0.78547	1.0:0.0:0.0:0.0	.	134;99;128;160;128;134	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	S	128;160;134;134;99;128;129;146	ENSP00000296315:F128S;ENSP00000341071:F160S;ENSP00000410922:F134S;ENSP00000420420:F134S;ENSP00000418826:F99S;ENSP00000417986:F128S;ENSP00000417087:F129S;ENSP00000420402:F146S	ENSP00000296315:F128S	F	-	2	0	ARHGEF3	56762627	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.224000	0.78042	2.281000	0.76405	0.533000	0.62120	TTT		PASS	0.368	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2	NM_019555		19	36	19	36	---	---	---	---
STXBP5L	9515	broad.mit.edu	37	3	121137260	121137260	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr3:121137260G>A	ENST00000273666.6	+	27	3646	c.3375G>A	c.(3373-3375)atG>atA	p.M1125I	STXBP5L_ENST00000471454.1_Missense_Mutation_p.M1101I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	1125	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M1125I(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TAGAAGGGATGAAAGGCGCTG	0.522																																						uc003eec.3																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(2)	9						c.(3373-3375)ATG>ATA		syntaxin binding protein 5-like							54.0	60.0	58.0					3																	121137260		2016	4187	6203	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:121137260G>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.3375G>A	3.37:g.121137260G>A	ENSP00000273666:p.Met1125Ile					STXBP5L_uc011bji.1_Missense_Mutation_p.M1101I	p.M1125I	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	27	3515	+			1125			v-SNARE coiled-coil homology.		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.3375G>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329252	0.24167	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000471262	T;T;T	0.22336	1.98;1.96;2.0	5.35	4.43	0.53597	Synaptobrevin (1);	0.196196	0.53938	D	0.000055	T	0.19005	0.0456	L	0.50333	1.59	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.03121	-1.1070	10	0.26408	T	0.33	-3.0338	11.16	0.48509	0.0756:0.1413:0.7831:0.0	.	1101;1125	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	I	1125;1101;1068	ENSP00000273666:M1125I;ENSP00000420019:M1101I;ENSP00000420167:M1068I	ENSP00000273666:M1125I	M	+	3	0	STXBP5L	122619950	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.070000	0.57548	2.512000	0.84698	0.655000	0.94253	ATG		PASS	0.522	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			6	41	6	41	---	---	---	---
SNX4	8723	broad.mit.edu	37	3	125216804	125216804	+	Silent	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr3:125216804G>C	ENST00000251775.4	-	4	447	c.423C>G	c.(421-423)ctC>ctG	p.L141L	SNX4_ENST00000473417.1_5'UTR|SNX4_ENST00000536067.1_5'UTR	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	141	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				endocytic recycling (GO:0032456)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|early endosome membrane (GO:0031901)|membrane (GO:0016020)|protein complex (GO:0043234)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)	p.L141L(1)		breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TGTCAGCAGAGAGTTTATGCC	0.388																																						uc003eib.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(421-423)CTC>CTG		sorting nexin 4							94.0	96.0	96.0					3																	125216804		2203	4300	6503	SO:0001819	synonymous_variant	8723				cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding	g.chr3:125216804G>C	AF065485	CCDS3032.1	3q21.2	2014-02-12			ENSG00000114520	ENSG00000114520		"""Sorting nexins"""	11175	protein-coding gene	gene with protein product		605931				9819414	Standard	NM_003794		Approved	ATG24B	uc003eib.4	O95219	OTTHUMG00000159575	ENST00000251775.4:c.423C>G	3.37:g.125216804G>C						SNX4_uc011bkf.1_5'UTR	p.L141L	NM_003794	NP_003785	O95219	SNX4_HUMAN			4	465	-			141			PX.		B3KMH0|B4DQV4|D3DNA3	Silent	SNP	ENST00000251775.4	37	c.423C>G	CCDS3032.1																																																																																				PASS	0.388	SNX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356299.1	NM_003794		18	93	18	93	---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126746920	126746920	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr3:126746920C>A	ENST00000393409.2	+	23	4500	c.4500C>A	c.(4498-4500)taC>taA	p.Y1500*	PLXNA1_ENST00000251772.4_Nonsense_Mutation_p.Y1477*	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1500					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.Y1477*(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGATTGACTACAAGACACTGG	0.652																																						uc003ejg.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(4429-4431)TAC>TAA		plexin A1							116.0	94.0	101.0					3																	126746920		2203	4300	6503	SO:0001587	stop_gained	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126746920C>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4500C>A	3.37:g.126746920C>A	ENSP00000377061:p.Tyr1500*					PLXNA1_uc003ejh.2_Nonsense_Mutation_p.Y145*	p.Y1477*	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	23	4435	+			1500			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000393409.2	37	c.4431C>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	c	43	10.187931	0.99355	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	.	.	.	3.62	2.73	0.32206	.	0.106078	0.41396	D	0.000884	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0641	0.47966	0.0:0.9071:0.0:0.0929	.	.	.	.	X	1500;1477	.	ENSP00000251772:Y1477X	Y	+	3	2	PLXNA1	128229610	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	1.982000	0.40638	0.856000	0.35383	0.306000	0.20318	TAC		PASS	0.652	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		5	131	5	131	---	---	---	---
RASA2	5922	broad.mit.edu	37	3	141304930	141304930	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr3:141304930C>G	ENST00000452898.1	+	18	1851	c.1816C>G	c.(1816-1818)Ctg>Gtg	p.L606V	RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000286364.3_Missense_Mutation_p.L606V	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	606	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.L606V(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GCCTGTGCACCTGAAAGAAGG	0.378																																						uc003etz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|breast(1)|skin(1)	6						c.(1816-1818)CTG>GTG		RAS p21 protein activator 2							67.0	67.0	67.0					3																	141304930		2203	4300	6503	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141304930C>G	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1816C>G	3.37:g.141304930C>G	ENSP00000391677:p.Leu606Val					RASA2_uc010huq.1_Missense_Mutation_p.L606V|RASA2_uc003eua.1_Missense_Mutation_p.L606V|RASA2_uc011bnc.1_Missense_Mutation_p.L198V	p.L606V	NM_006506	NP_006497	Q15283	RASA2_HUMAN			18	1816	+			606			PH.		A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.1816C>G		.	.	.	.	.	.	.	.	.	.	C	23.2	4.388734	0.82902	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	D;D	0.93488	-3.23;-3.23	5.82	4.94	0.65067	Rho GTPase activation protein (1);Pleckstrin homology-type (1);Pleckstrin homology domain (2);Ras GTPase-activating protein (1);	0.081874	0.50627	N	0.000119	D	0.94262	0.8157	L	0.43701	1.375	0.80722	D	1	D;D;D;D	0.71674	0.998;0.991;0.988;0.991	D;D;D;D	0.68039	0.955;0.945;0.909;0.945	D	0.92586	0.6079	10	0.23891	T	0.37	.	14.8206	0.70070	0.0:0.9308:0.0:0.0692	.	198;606;606;606	E7EU60;A8K7K1;G3V0F9;Q15283	.;.;.;RASA2_HUMAN	V	606;606;198	ENSP00000286364:L606V;ENSP00000391677:L606V	ENSP00000286364:L606V	L	+	1	2	RASA2	142787620	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.035000	0.57297	1.447000	0.47661	0.655000	0.94253	CTG		PASS	0.378	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		4	9	4	9	---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168838844	168838844	+	Splice_Site	SNP	A	A	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr3:168838844A>C	ENST00000464456.1	-	6	1768	c.568T>G	c.(568-570)Tgt>Ggt	p.C190G	MECOM_ENST00000433243.2_Splice_Site_p.C191G|MECOM_ENST00000494292.1_Splice_Site_p.C378G|MECOM_ENST00000392736.3_Splice_Site_p.C190G|MECOM_ENST00000468789.1_Splice_Site_p.C190G|MECOM_ENST00000460814.1_Splice_Site_p.C190G|MECOM_ENST00000264674.3_Splice_Site_p.C255G|MECOM_ENST00000472280.1_Splice_Site_p.C191G	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C190G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GAAAACTTACAGATAAAGGGC	0.552																																						uc003ffi.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14						c.(568-570)TGT>GGT		MDS1 and EVI1 complex locus isoform b							208.0	191.0	197.0					3																	168838844		2203	4300	6503	SO:0001630	splice_region_variant	2122				apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:168838844A>C	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.568+1T>G	3.37:g.168838844A>C						MECOM_uc010hwk.1_Missense_Mutation_p.C213G|MECOM_uc003ffj.3_Missense_Mutation_p.C255G|MECOM_uc011bpi.1_Missense_Mutation_p.C191G|MECOM_uc003ffn.3_Missense_Mutation_p.C190G|MECOM_uc003ffk.2_Missense_Mutation_p.C190G|MECOM_uc003ffl.2_Missense_Mutation_p.C350G|MECOM_uc011bpj.1_Missense_Mutation_p.C378G|MECOM_uc011bpk.1_Missense_Mutation_p.C180G|MECOM_uc010hwn.2_Missense_Mutation_p.C378G	p.C190G	NM_005241	NP_005232	Q03112	EVI1_HUMAN			6	837	-			190			Interaction with MAPK9, SMAD3 and probably SUV39H1.|C2H2-type 6.		Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.568T>G	CCDS54669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.1|25.1	4.603149|4.603149	0.87157|0.87157	.|.	.|.	ENSG00000085276|ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243|ENST00000492586	D;T;T;D;T;T;T;D|T	0.90197|0.06528	-2.63;-0.65;-0.65;-2.63;-0.65;-0.65;-0.65;-2.63|3.29	5.56|5.56	5.56|5.56	0.83823|0.83823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.387514|.	0.28236|.	N|.	0.016092|.	T|T	0.45856|0.45856	0.1363|0.1363	H|H	0.99475|0.99475	4.585|4.585	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.993;0.999;1.0;0.999|.	D;P;D;D;D|.	0.83275|.	0.996;0.857;0.977;0.996;0.977|.	T|T	0.71006|0.71006	-0.4717|-0.4717	10|7	0.87932|0.87932	D|D	0|0	-7.8159|-7.8159	15.7053|15.7053	0.77573|0.77573	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	378;191;378;255;190|.	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112|.	.;.;.;.;EVI1_HUMAN|.	G|A	255;190;190;191;378;190;190;191|165	ENSP00000264674:C255G;ENSP00000376493:C190G;ENSP00000419770:C190G;ENSP00000420048:C191G;ENSP00000417899:C378G;ENSP00000419995:C190G;ENSP00000420466:C190G;ENSP00000394302:C191G|ENSP00000417506:S165A	ENSP00000264674:C255G|ENSP00000417506:S165A	C|S	-|-	1|1	0|0	MECOM|MECOM	170321538|170321538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	8.962000|8.962000	0.93254|0.93254	2.108000|2.108000	0.64289|0.64289	0.459000|0.459000	0.35465|0.35465	TGT|TCA		PASS	0.552	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991	Missense_Mutation	44	70	44	70	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170800083	170800083	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr3:170800083C>G	ENST00000436636.2	-	27	3614	c.3270G>C	c.(3268-3270)caG>caC	p.Q1090H	TNIK_ENST00000475336.1_Missense_Mutation_p.Q998H|TNIK_ENST00000369326.5_Missense_Mutation_p.Q1068H|TNIK_ENST00000470834.1_Missense_Mutation_p.Q1053H|TNIK_ENST00000460047.1_Missense_Mutation_p.Q1027H|TNIK_ENST00000357327.5_Missense_Mutation_p.Q1061H|TNIK_ENST00000538048.1_Missense_Mutation_p.Q1042H|TNIK_ENST00000284483.8_Missense_Mutation_p.Q1082H|TNIK_ENST00000341852.6_Missense_Mutation_p.Q1006H|TNIK_ENST00000488470.1_Missense_Mutation_p.Q1035H	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1090	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.Q1090H(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GCACATCCATCTGCTGAAATC	0.488																																						uc003fhh.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(1)	5						c.(3268-3270)CAG>CAC		TRAF2 and NCK interacting kinase isoform 1							78.0	77.0	77.0					3																	170800083		1971	4171	6142	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170800083C>G	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3270G>C	3.37:g.170800083C>G	ENSP00000399511:p.Gln1090His					TNIK_uc003fhi.2_Missense_Mutation_p.Q1035H|TNIK_uc003fhj.2_Missense_Mutation_p.Q1061H|TNIK_uc003fhk.2_Missense_Mutation_p.Q1082H|TNIK_uc003fhl.2_Missense_Mutation_p.Q1006H|TNIK_uc003fhm.2_Missense_Mutation_p.Q1027H|TNIK_uc003fhn.2_Missense_Mutation_p.Q1053H|TNIK_uc003fho.2_Missense_Mutation_p.Q998H|TNIK_uc003fhg.2_Missense_Mutation_p.Q268H|TNIK_uc003fhp.2_Missense_Mutation_p.Q22H	p.Q1090H	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		27	3615	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1090			CNH.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.3270G>C	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463257	0.84425	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.09255	3.0;3.0;3.0;3.0;3.0;3.0;3.0;3.0;3.0;3.0	5.79	4.79	0.61399	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.36303	0.0962	M	0.85373	2.75	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.988;1.0;0.988;0.988;1.0;1.0;0.988;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.98;0.984;0.999;0.984;0.984;0.999;0.999;0.984;0.999	T	0.28170	-1.0052	10	0.87932	D	0	.	12.4919	0.55905	0.0:0.9022:0.0:0.0978	.	1042;998;1053;1027;1006;1082;1061;1035;1090	F5H5M9;Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;.;TNIK_HUMAN	H	1090;1068;1042;1006;1082;998;1061;1027;1035;1053	ENSP00000399511:Q1090H;ENSP00000358332:Q1068H;ENSP00000443278:Q1042H;ENSP00000345352:Q1006H;ENSP00000284483:Q1082H;ENSP00000418156:Q998H;ENSP00000349880:Q1061H;ENSP00000418916:Q1027H;ENSP00000418378:Q1035H;ENSP00000419990:Q1053H	ENSP00000284483:Q1082H	Q	-	3	2	TNIK	172282777	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.047000	0.57383	1.200000	0.43188	0.655000	0.94253	CAG		PASS	0.488	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		9	33	9	33	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726			E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E726K(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAGAAGGATGAAACACAAAA	0.428		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		8	Substitution - Missense(8)	p.E726K(2)	lung(4)|large_intestine(2)|breast(2)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(2176-2178)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							89.0	78.0	82.0					3																	178938934		1917	4118	6035	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178938934G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2176G>A	3.37:g.178938934G>A	ENSP00000263967:p.Glu726Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E726K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		14	2333	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		726					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.2176G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308869	0.60305	.	.	ENSG00000121879	ENST00000263967	T	0.80653	-1.4	5.67	5.67	0.87782	Protein kinase-like domain (1);	0.166180	0.38778	U	0.001568	T	0.73450	0.3588	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	B	0.42738	0.396	T	0.71401	-0.4604	10	0.02654	T	1	-19.3819	19.7612	0.96319	0.0:0.0:1.0:0.0	.	726	P42336	PK3CA_HUMAN	K	726	ENSP00000263967:E726K	ENSP00000263967:E726K	E	+	1	0	PIK3CA	180421628	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.476000	0.97823	2.670000	0.90874	0.655000	0.94253	GAA		PASS	0.428	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			9	56	9	56	---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183655727	183655727	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr3:183655727G>C	ENST00000334444.6	-	26	4056	c.3816C>G	c.(3814-3816)atC>atG	p.I1272M	ABCC5_ENST00000265586.6_Missense_Mutation_p.I1229M	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1272	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|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.I1272M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CTTGAGGAATGATAGAGAGTT	0.537																																						uc003fmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(3814-3816)ATC>ATG		ATP-binding cassette, sub-family C, member 5							76.0	79.0	78.0					3																	183655727		2081	4221	6302	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183655727G>C	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3816C>G	3.37:g.183655727G>C	ENSP00000333926:p.Ile1272Met					ABCC5_uc011bqt.1_Missense_Mutation_p.I800M|ABCC5_uc010hxl.2_Missense_Mutation_p.I1229M	p.I1272M	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		26	3981	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1272			ABC transporter 2.		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.3816C>G	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180426	0.57800	.	.	ENSG00000114770	ENST00000334444;ENST00000265586	D;D	0.93712	-3.27;-3.27	5.49	2.63	0.31362	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	N	0.20766	0.605	0.52099	D	0.99994	D;D	0.71674	0.975;0.998	D;D	0.74348	0.934;0.983	D	0.88163	0.2859	10	0.59425	D	0.04	-22.6107	4.6306	0.12500	0.251:0.0:0.509:0.24	.	1229;1272	Q86UX3;O15440	.;MRP5_HUMAN	M	1272;1229	ENSP00000333926:I1272M;ENSP00000265586:I1229M	ENSP00000265586:I1229M	I	-	3	3	ABCC5	185138421	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	2.112000	0.41892	0.246000	0.21394	0.655000	0.94253	ATC		PASS	0.537	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688		10	116	10	116	---	---	---	---
EIF4A2	1974	broad.mit.edu	37	3	186502264	186502264	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr3:186502264G>C	ENST00000323963.5	+	2	137	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.E26Q|RP11-573D15.9_ENST00000577781.1_RNA|SNORA81_ENST00000408493.2_RNA|EIF4A2_ENST00000356531.5_5'UTR|SNORD2_ENST00000459163.1_RNA|SNORA63_ENST00000363450.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	25					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.E25Q(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TGGTGTCATCGAGGTAAGAAA	0.478			T	BCL6	NHL																																	uc003fqs.2				Dom	yes		3	3q27.3	1974	T	"""eukaryotic translation initiation factor 4A, isoform 2"""			L	BCL6		NHL		1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(73-75)GAG>CAG		eukaryotic translation initiation factor 4A2							198.0	185.0	189.0					3																	186502264		2203	4300	6503	SO:0001583	missense	1974				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	g.chr3:186502264G>C	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.73G>C	3.37:g.186502264G>C	ENSP00000326381:p.Glu25Gln					EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.E26Q|EIF4A2_uc003fqv.2_5'UTR|EIF4A2_uc003fqw.2_5'UTR|SNORD2_uc010hyu.1_5'Flank|EIF4A2_uc011bsb.1_5'Flank|MIR1248_hsa-mir-1248|MI0006383_5'Flank|SNORA81_uc010hyv.1_5'Flank|SNORA63_uc010hyw.1_5'Flank	p.E25Q	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)	2	112	+	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		25					D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	c.73G>C	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600387	0.66332	.	.	ENSG00000156976	ENST00000441007;ENST00000445596;ENST00000323963;ENST00000440191	T;T;T	0.34859	1.34;1.58;1.58	4.16	4.16	0.48862	.	0.122330	0.53938	D	0.000041	T	0.37732	0.1014	M	0.64404	1.975	0.80722	D	1	B;B	0.12013	0.005;0.002	B;B	0.17098	0.01;0.017	T	0.31833	-0.9929	10	0.51188	T	0.08	-19.096	14.7627	0.69617	0.0:0.0:1.0:0.0	.	26;25	Q14240-2;Q14240	.;IF4A2_HUMAN	Q	25;25;25;26	ENSP00000415878:E25Q;ENSP00000326381:E25Q;ENSP00000398370:E26Q	ENSP00000326381:E25Q	E	+	1	0	EIF4A2	187984958	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.326000	0.79133	2.607000	0.88179	0.585000	0.79938	GAG		PASS	0.478	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967		31	389	31	389	---	---	---	---
RTP2	344892	broad.mit.edu	37	3	187416707	187416707	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr3:187416707G>A	ENST00000358241.1	-	2	685	c.257C>T	c.(256-258)tCg>tTg	p.S86L		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	86					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.S86L(1)		large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CATGCGCACCGAGCCCGCCCG	0.662																																						uc003fro.1																			1	Substitution - Missense(1)		lung(1)		0						c.(256-258)TCG>TTG		receptor transporting protein 2							23.0	22.0	22.0					3																	187416707		2203	4295	6498	SO:0001583	missense	344892				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:187416707G>A	AY562236	CCDS33911.1	3q27.3	2014-02-20	2006-11-21		ENSG00000198471	ENSG00000198471		"""Receptor transporter proteins"""	32486	protein-coding gene	gene with protein product	"""receptor transporting protein 2"", ""zinc finger, 3CxxC-type 2"""	609138	"""receptor transporter protein 2"""			16271481, 15550249, 16720576	Standard	NM_001004312		Approved	MGC78665, Z3CXXC2	uc003fro.1	Q5QGT7	OTTHUMG00000156458	ENST00000358241.1:c.257C>T	3.37:g.187416707G>A	ENSP00000350976:p.Ser86Leu						p.S86L	NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)	2	686	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		86			Cytoplasmic (Potential).		Q6NVH4	Missense_Mutation	SNP	ENST00000358241.1	37	c.257C>T	CCDS33911.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239872	0.39598	.	.	ENSG00000198471	ENST00000358241	T	0.22336	1.96	4.32	4.32	0.51571	.	0.486609	0.19449	N	0.113992	T	0.11495	0.0280	N	0.19112	0.55	0.35371	D	0.789021	P	0.45396	0.857	B	0.38655	0.278	T	0.07009	-1.0795	10	0.07990	T	0.79	-15.6125	12.6181	0.56588	0.0:0.0:1.0:0.0	.	86	Q5QGT7	RTP2_HUMAN	L	86	ENSP00000350976:S86L	ENSP00000350976:S86L	S	-	2	0	RTP2	188899401	0.166000	0.22962	0.942000	0.38095	0.474000	0.32979	0.559000	0.23485	2.701000	0.92244	0.563000	0.77884	TCG		PASS	0.662	RTP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344259.1	NM_001004312		11	82	11	82	---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193151649	193151649	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr3:193151649G>A	ENST00000342695.4	-	25	3149	c.2827C>T	c.(2827-2829)Ctt>Ttt	p.L943F	ATP13A4_ENST00000392443.3_Missense_Mutation_p.L924F	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	943						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.L943F(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)		ACACCAATAAGAGTTGTAATG	0.403																																						uc003ftd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2827-2829)CTT>TTT		ATPase type 13A4							106.0	113.0	111.0					3																	193151649		2203	4300	6503	SO:0001583	missense	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.chr3:193151649G>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.2827C>T	3.37:g.193151649G>A	ENSP00000339182:p.Leu943Phe					ATP13A4_uc010hzi.2_RNA	p.L943F	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)	25	2935	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		943			Helical; (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.2827C>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	13.72	2.319964	0.41096	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	D;D	0.90385	-2.66;-2.66	5.46	3.64	0.41730	.	0.353536	0.23472	N	0.047802	D	0.86744	0.6006	L	0.52206	1.635	0.80722	D	1	B	0.28933	0.228	B	0.32090	0.14	T	0.81457	-0.0924	10	0.42905	T	0.14	-15.6787	8.6705	0.34147	0.0:0.2493:0.4765:0.2743	.	943	Q4VNC1	AT134_HUMAN	F	924;943	ENSP00000376238:L924F;ENSP00000339182:L943F	ENSP00000339182:L943F	L	-	1	0	ATP13A4	194634343	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.556000	0.23438	0.649000	0.30751	-0.169000	0.13324	CTT		PASS	0.403	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		19	106	19	106	---	---	---	---
CEP19	84984	broad.mit.edu	37	3	196434643	196434643	+	Nonsense_Mutation	SNP	C	C	A	rs139813132	byFrequency	TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr3:196434643C>A	ENST00000399942.4	-	2	460	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	CEP19_ENST00000409690.3_Nonsense_Mutation_p.E95*|RNU6-646P_ENST00000364571.1_RNA			Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	91						centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.E91*(2)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						TGAATTTGTTCCATTGTTTCT	0.428																																						uc011btw.1																			2	Substitution - Nonsense(2)		lung(1)|kidney(1)		0						c.(283-285)GAA>TAA		hypothetical protein LOC84984							211.0	193.0	199.0					3																	196434643		1904	4126	6030	SO:0001587	stop_gained	84984					centriole|spindle pole		g.chr3:196434643C>A	BC007827	CCDS43193.2	3q29	2014-02-20	2011-05-06	2011-05-06	ENSG00000174007	ENSG00000174007			28209	protein-coding gene	gene with protein product		615586	"""chromosome 3 open reading frame 34"""	C3orf34		21399614	Standard	XM_005269370		Approved	MGC14126	uc011btw.2	Q96LK0	OTTHUMG00000153933	ENST00000399942.4:c.166G>T	3.37:g.196434643C>A	ENSP00000382823:p.Glu56*						p.E95*	NM_032898	NP_116287	Q96LK0	CEP19_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00301)	3	665	-	all_cancers(143;1.48e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		91					B2RA74|Q96I48	Nonsense_Mutation	SNP	ENST00000399942.4	37	c.283G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.402332	0.97537	.	.	ENSG00000174007	ENST00000409690;ENST00000399942	.	.	.	5.56	4.67	0.58626	.	0.247626	0.47093	D	0.000254	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-3.6719	11.7116	0.51628	0.0:0.8069:0.1245:0.0686	.	.	.	.	X	95;56	.	ENSP00000382823:E56X	E	-	1	0	CEP19	197919040	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.102000	0.50291	1.423000	0.47198	0.655000	0.94253	GAA		PASS	0.428	CEP19-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333081.1	NM_032898		22	229	22	229	---	---	---	---
CEP19	84984	broad.mit.edu	37	3	196434703	196434703	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr3:196434703C>G	ENST00000399942.4	-	2	400	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	CEP19_ENST00000409690.3_Missense_Mutation_p.E75Q|RNU6-646P_ENST00000364571.1_RNA			Q96LK0	CEP19_HUMAN	centrosomal protein 19kDa	71						centriole (GO:0005814)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.E71Q(1)		NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	10						AATAGCTTCTCTAGCTGCCTC	0.438																																						uc011btw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)GAG>CAG		hypothetical protein LOC84984							142.0	135.0	137.0					3																	196434703		1886	4115	6001	SO:0001583	missense	84984					centriole|spindle pole		g.chr3:196434703C>G	BC007827	CCDS43193.2	3q29	2014-02-20	2011-05-06	2011-05-06	ENSG00000174007	ENSG00000174007			28209	protein-coding gene	gene with protein product		615586	"""chromosome 3 open reading frame 34"""	C3orf34		21399614	Standard	XM_005269370		Approved	MGC14126	uc011btw.2	Q96LK0	OTTHUMG00000153933	ENST00000399942.4:c.106G>C	3.37:g.196434703C>G	ENSP00000382823:p.Glu36Gln						p.E75Q	NM_032898	NP_116287	Q96LK0	CEP19_HUMAN	Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00301)	3	605	-	all_cancers(143;1.48e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		71					B2RA74|Q96I48	Missense_Mutation	SNP	ENST00000399942.4	37	c.223G>C		.	.	.	.	.	.	.	.	.	.	C	14.18	2.459117	0.43634	.	.	ENSG00000174007	ENST00000409690;ENST00000399942	.	.	.	5.56	4.7	0.59300	.	0.135029	0.64402	D	0.000003	T	0.56572	0.1994	M	0.63428	1.95	0.45390	D	0.998375	B	0.18013	0.025	B	0.16289	0.015	T	0.57625	-0.7779	9	0.59425	D	0.04	-18.5479	8.1786	0.31296	0.0:0.6639:0.1932:0.1429	.	71	Q96LK0	CEP19_HUMAN	Q	75;36	.	ENSP00000382823:E36Q	E	-	1	0	CEP19	197919100	0.807000	0.29009	0.982000	0.44146	0.935000	0.57460	1.471000	0.35365	1.492000	0.48499	0.655000	0.94253	GAG		PASS	0.438	CEP19-002	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333081.1	NM_032898		30	230	30	230	---	---	---	---
JAKMIP1	152789	broad.mit.edu	37	4	6064080	6064080	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr4:6064080C>T	ENST00000282924.5	-	10	2004	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E322K|JAKMIP1_ENST00000409021.3_Missense_Mutation_p.E507K|JAKMIP1_ENST00000457227.2_5'Flank|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E507K|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E342K	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	507	Mediates interaction with TYK2 and GABBR1.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.E507K(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCCACCTGCTCCTGGAGCAGG	0.682																																						uc003giu.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(1519-1521)GAG>AAG		janus kinase and microtubule interacting protein							37.0	45.0	42.0					4																	6064080		2198	4291	6489	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6064080C>T	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1519G>A	4.37:g.6064080C>T	ENSP00000282924:p.Glu507Lys					JAKMIP1_uc010idb.1_Missense_Mutation_p.E507K|JAKMIP1_uc010idc.1_Missense_Mutation_p.E322K|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc011bwc.1_Missense_Mutation_p.E342K|JAKMIP1_uc003giv.3_Missense_Mutation_p.E507K|JAKMIP1_uc010ide.2_Missense_Mutation_p.E507K	p.E507K	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			10	1795	-			507			Mediates interaction with TYK2 and GABBR1.|Potential.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.1519G>A	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	C	32	5.187049	0.94923	.	.	ENSG00000152969	ENST00000409021;ENST00000409371;ENST00000429819;ENST00000282924;ENST00000409831;ENST00000410077	T;T;T;T;T	0.58797	0.81;0.31;0.91;0.91;0.41	4.85	4.01	0.46588	.	0.081593	0.50627	N	0.000105	T	0.73737	0.3625	M	0.78049	2.395	0.48901	D	0.999724	P;B;P;D	0.67145	0.518;0.27;0.506;0.996	B;B;B;D	0.77557	0.147;0.147;0.203;0.99	T	0.74677	-0.3585	10	0.48119	T	0.1	.	11.7638	0.51918	0.0:0.9136:0.0:0.0864	.	342;322;507;507	B4DHZ8;Q96N16-5;Q96N16-2;Q96N16	.;.;.;JKIP1_HUMAN	K	507;322;399;507;507;342	ENSP00000386711:E507K;ENSP00000387042:E322K;ENSP00000282924:E507K;ENSP00000386925:E507K;ENSP00000386745:E342K	ENSP00000282924:E507K	E	-	1	0	JAKMIP1	6114981	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.651000	0.67951	1.054000	0.40438	0.561000	0.74099	GAG		PASS	0.682	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		33	86	33	86	---	---	---	---
CCDC158	339965	broad.mit.edu	37	4	77276503	77276503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr4:77276503C>A	ENST00000388914.3	-	14	2412	c.2260G>T	c.(2260-2262)Gaa>Taa	p.E754*	RNU6-1000P_ENST00000391066.1_RNA	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	754								p.E754*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ATTGCCTCTTCCAAAAACTGT	0.438																																						uc003hkb.3																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)	6						c.(2260-2262)GAA>TAA		coiled-coil domain containing 158							226.0	210.0	215.0					4																	77276503		1935	4146	6081	SO:0001587	stop_gained	339965							g.chr4:77276503C>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2260G>T	4.37:g.77276503C>A	ENSP00000373566:p.Glu754*						p.E754*	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			14	2413	-			754			Potential.		Q8IYQ1|Q8N7D4|Q8N7E3	Nonsense_Mutation	SNP	ENST00000388914.3	37	c.2260G>T	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	41	8.807086	0.98962	.	.	ENSG00000163749	ENST00000388914	.	.	.	5.24	5.24	0.73138	.	0.188226	0.35677	N	0.003048	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	15.8409	0.78845	0.0:1.0:0.0:0.0	.	.	.	.	X	754	.	ENSP00000373566:E754X	E	-	1	0	CCDC158	77495527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.065000	0.64344	2.719000	0.93026	0.655000	0.94253	GAA		PASS	0.438	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		40	115	40	115	---	---	---	---
SHROOM3	57619	broad.mit.edu	37	4	77662003	77662003	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr4:77662003C>T	ENST00000296043.6	+	5	3630	c.2677C>T	c.(2677-2679)Cag>Tag	p.Q893*		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	893					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)		p.Q892*(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAGCACCTTCCAGCTCTCCAG	0.731																																						uc011cbx.1																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)	3						c.(2677-2679)CAG>TAG		shroom family member 3 protein							8.0	10.0	10.0					4																	77662003		2136	4208	6344	SO:0001587	stop_gained	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77662003C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2677C>T	4.37:g.77662003C>T	ENSP00000296043:p.Gln893*					SHROOM3_uc011cbz.1_Nonsense_Mutation_p.Q717*|SHROOM3_uc003hkf.1_Nonsense_Mutation_p.Q768*|SHROOM3_uc003hkg.2_Nonsense_Mutation_p.Q671*	p.Q893*	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3630	+			893					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Nonsense_Mutation	SNP	ENST00000296043.6	37	c.2677C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	c	48	14.628997	0.99803	.	.	ENSG00000138771	ENST00000296043	.	.	.	5.43	5.43	0.79202	.	3.834870	0.00597	N	0.000367	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.2692	17.4154	0.87498	0.0:1.0:0.0:0.0	.	.	.	.	X	893	.	ENSP00000296043:Q893X	Q	+	1	0	SHROOM3	77881027	0.983000	0.35010	0.989000	0.46669	0.887000	0.51463	2.448000	0.44926	2.540000	0.85666	0.558000	0.71614	CAG		PASS	0.731	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		5	21	5	21	---	---	---	---
RAP1GDS1	5910	broad.mit.edu	37	4	99339876	99339876	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr4:99339876G>T	ENST00000408927.3	+	10	1221	c.1108G>T	c.(1108-1110)Gta>Tta	p.V370L	RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.V279L|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.V371L|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.V371L|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.V321L|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.V322L	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	370					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)	p.V371L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GGACAGACATGTAGAAGATGG	0.378			T	NUP98	T-ALL																																	uc003htx.3				Dom	yes		4	4q21-q25	5910	T	"""RAP1, GTP-GDP dissociation stimulator 1"""			L	NUP98		T-ALL		1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(1108-1110)GTA>TTA		RAP1, GTP-GDP dissociation stimulator 1 isoform							84.0	83.0	83.0					4																	99339876		1901	4119	6020	SO:0001583	missense	5910						binding|GTPase activator activity	g.chr4:99339876G>T		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.1108G>T	4.37:g.99339876G>T	ENSP00000386153:p.Val370Leu					RAP1GDS1_uc003htw.3_Missense_Mutation_p.V371L|RAP1GDS1_uc003htv.3_Missense_Mutation_p.V371L|RAP1GDS1_uc003htz.3_Missense_Mutation_p.V321L|RAP1GDS1_uc003hty.3_Missense_Mutation_p.V322L|RAP1GDS1_uc003hua.3_Missense_Mutation_p.V279L	p.V370L	NM_001100427	NP_001093897	P52306	GDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)	10	1298	+			370			ARM 3.		E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	ENST00000408927.3	37	c.1108G>T	CCDS43253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.059034|5.059034	0.93846|0.93846	.|.	.|.	ENSG00000138698|ENSG00000138698	ENST00000509501|ENST00000380158;ENST00000264572;ENST00000408927;ENST00000453712;ENST00000408900;ENST00000339360	.|T;T;T;T;T;T	.|0.32988	.|1.5;1.48;1.43;1.43;1.51;1.43	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52484|0.52484	0.1737|0.1737	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	.|D;D;D;P;D;D	.|0.76494	.|0.989;0.959;0.967;0.791;0.987;0.999	.|P;D;D;B;P;D	.|0.70716	.|0.869;0.949;0.97;0.342;0.814;0.958	T|T	0.31613|0.31613	-0.9937|-0.9937	5|10	.|0.27082	.|T	.|0.32	-15.1655|-15.1655	19.773|19.773	0.96379|0.96379	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|279;321;322;370;371;371	.|E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9	.|.;.;.;GDS1_HUMAN;.;.	F|L	179|322;279;370;371;321;371	.|ENSP00000369503:V322L;ENSP00000264572:V279L;ENSP00000386153:V370L;ENSP00000407157:V371L;ENSP00000386223:V321L;ENSP00000340454:V371L	.|ENSP00000264572:V279L	C|V	+|+	2|1	0|0	RAP1GDS1|RAP1GDS1	99558899|99558899	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.230000|9.230000	0.95299|0.95299	2.677000|2.677000	0.91161|0.91161	0.655000|0.655000	0.94253|0.94253	TGT|GTA		PASS	0.378	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363273.2	NM_001100426		3	34	3	34	---	---	---	---
TET2	54790	broad.mit.edu	37	4	106155466	106155466	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr4:106155466C>A	ENST00000540549.1	+	3	1227	c.367C>A	c.(367-369)Cgt>Agt	p.R123S	TET2_ENST00000394764.1_Missense_Mutation_p.R123S|TET2_ENST00000305737.2_Missense_Mutation_p.R123S|TET2_ENST00000545826.1_Missense_Mutation_p.R123S|TET2_ENST00000380013.4_Missense_Mutation_p.R123S|TET2_ENST00000513237.1_Missense_Mutation_p.R144S|TET2_ENST00000413648.2_Missense_Mutation_p.R123S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	123			R -> H. {ECO:0000269|PubMed:19483684}.		5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.R123S(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TGGAGAAAGACGTAACTTCGG	0.423			"""Mis N, F"""		MDS																																	uc003hxk.2				Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(367-369)CGT>AGT		tet oncogene family member 2 isoform a							59.0	58.0	59.0					4																	106155466		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106155466C>A	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.367C>A	4.37:g.106155466C>A	ENSP00000442788:p.Arg123Ser					TET2_uc011cez.1_Missense_Mutation_p.R144S|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.R123S|TET2_uc003hxi.1_Missense_Mutation_p.R123S	p.R123S	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	753	+		Myeloproliferative disorder(5;0.0393)	123		R -> H.			B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.367C>A	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.660685	0.00772	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648;ENST00000535110	T;T;T;T;T;T;T	0.03413	3.94;4.55;3.94;4.55;4.55;3.94;3.94	5.33	-3.22	0.05125	.	3.325910	0.01232	U	0.008376	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.39522	-0.9610	10	0.08599	T	0.76	.	2.9066	0.05722	0.2379:0.4849:0.1046:0.1726	.	144;123;123	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	S	123;123;123;144;123;123;123;123	ENSP00000306705:R123S;ENSP00000442788:R123S;ENSP00000442867:R123S;ENSP00000425443:R144S;ENSP00000369351:R123S;ENSP00000378245:R123S;ENSP00000391448:R123S	ENSP00000265149:R123S	R	+	1	0	TET2	106374915	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.030000	0.12308	-0.750000	0.04740	-1.731000	0.00696	CGT		PASS	0.423	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		3	38	3	38	---	---	---	---
TET2	54790	broad.mit.edu	37	4	106157923	106157923	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr4:106157923C>T	ENST00000540549.1	+	3	3684	c.2824C>T	c.(2824-2826)Ccc>Tcc	p.P942S	TET2_ENST00000394764.1_Missense_Mutation_p.P942S|TET2_ENST00000305737.2_Missense_Mutation_p.P942S|TET2_ENST00000545826.1_Missense_Mutation_p.P942S|TET2_ENST00000380013.4_Missense_Mutation_p.P942S|TET2_ENST00000513237.1_Missense_Mutation_p.P963S|TET2_ENST00000413648.2_Missense_Mutation_p.P942S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	942	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)	p.P942S(2)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TCAGACCCCTCCCCAGAAGGA	0.488			"""Mis N, F"""		MDS																																	uc003hxk.2				Rec	yes		4	4q24	54790	Mis N|F	tet oncogene family member 2			L			MDS		2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(732)|pancreas(1)	733						c.(2824-2826)CCC>TCC		tet oncogene family member 2 isoform a							78.0	66.0	70.0					4																	106157923		2203	4300	6503	SO:0001583	missense	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106157923C>T	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2824C>T	4.37:g.106157923C>T	ENSP00000442788:p.Pro942Ser					TET2_uc011cez.1_Missense_Mutation_p.P963S|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.P942S|TET2_uc003hxi.1_Missense_Mutation_p.P942S	p.P942S	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	3210	+		Myeloproliferative disorder(5;0.0393)	942			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Missense_Mutation	SNP	ENST00000540549.1	37	c.2824C>T	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248330	0.39697	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	T;T;T;T;T;T;T	0.04758	3.59;4.31;3.56;4.3;4.31;3.59;3.6	5.79	3.99	0.46301	.	0.000000	0.38720	U	0.001591	T	0.08980	0.0222	L	0.34521	1.04	0.22648	N	0.998895	P;P;D	0.55800	0.91;0.91;0.973	P;P;P	0.56088	0.469;0.469;0.791	T	0.10177	-1.0641	10	0.46703	T	0.11	.	10.8534	0.46784	0.4708:0.4141:0.1151:0.0	.	963;942;942	E7EQS8;Q6N021;Q6N021-2	.;TET2_HUMAN;.	S	942;942;942;963;942;942;942	ENSP00000306705:P942S;ENSP00000442788:P942S;ENSP00000442867:P942S;ENSP00000425443:P963S;ENSP00000369351:P942S;ENSP00000378245:P942S;ENSP00000391448:P942S	ENSP00000265149:P942S	P	+	1	0	TET2	106377372	0.815000	0.29118	0.581000	0.28614	0.649000	0.38597	1.582000	0.36568	0.717000	0.32145	0.655000	0.94253	CCC		PASS	0.488	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		15	26	15	26	---	---	---	---
ZGRF1	55345	broad.mit.edu	37	4	113539912	113539912	+	Nonsense_Mutation	SNP	G	G	C	rs147826438		TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr4:113539912G>C	ENST00000505019.1	-	6	1411	c.1286C>G	c.(1285-1287)tCa>tGa	p.S429*	C4orf21_ENST00000445203.2_Nonsense_Mutation_p.S398*|C4orf21_ENST00000309071.5_Nonsense_Mutation_p.S429*	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		429						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.S429*(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GTCAGATTCTGATAATATACC	0.338																																						uc003iau.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(1285-1287)TCA>TGA		prematurely terminated mRNA decay factor-like							81.0	84.0	83.0					4																	113539912		2203	4297	6500	SO:0001587	stop_gained	55345					integral to membrane	zinc ion binding	g.chr4:113539912G>C																												ENST00000505019.1:c.1286C>G	4.37:g.113539912G>C	ENSP00000424737:p.Ser429*					C4orf21_uc003iaw.2_Nonsense_Mutation_p.S429*	p.S429*	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	1497	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Nonsense_Mutation	SNP	ENST00000505019.1	37	c.1286C>G		.	.	.	.	.	.	.	.	.	.	G	22.4	4.284121	0.80803	.	.	ENSG00000138658	ENST00000505019;ENST00000309071;ENST00000445203	.	.	.	5.19	2.54	0.30619	.	0.834857	0.10085	N	0.717956	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-1.6371	5.3897	0.16237	0.2279:0.0:0.6328:0.1393	.	.	.	.	X	429;429;398	.	ENSP00000309095:S429X	S	-	2	0	C4orf21	113759361	0.005000	0.15991	0.003000	0.11579	0.121000	0.20230	1.440000	0.35024	0.216000	0.20781	-0.259000	0.10710	TCA		PASS	0.338	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			3	68	3	68	---	---	---	---
BBS7	55212	broad.mit.edu	37	4	122775966	122775966	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr4:122775966C>G	ENST00000264499.4	-	7	794	c.611G>C	c.(610-612)gGa>gCa	p.G204A	BBS7_ENST00000506636.1_Missense_Mutation_p.G204A	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	204					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.G204A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAGGTCTTCTCCAGAGTCACC	0.299									Bardet-Biedl syndrome																													uc003ied.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(610-612)GGA>GCA		Bardet-Biedl syndrome 7 protein isoform a							89.0	89.0	89.0					4																	122775966		2203	4300	6503	SO:0001583	missense	55212	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122775966C>G	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.611G>C	4.37:g.122775966C>G	ENSP00000264499:p.Gly204Ala					BBS7_uc003iee.1_Missense_Mutation_p.G204A	p.G204A	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN			7	785	-			204					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.611G>C	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867579	0.91587	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.86432	-2.12;-2.12	5.65	5.65	0.86999	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88720	0.6513	M	0.78916	2.43	0.80722	D	1	P	0.43578	0.811	B	0.42282	0.382	D	0.87186	0.2231	10	0.27785	T	0.31	-16.8813	19.7129	0.96103	0.0:1.0:0.0:0.0	.	204	Q8IWZ6	BBS7_HUMAN	A	204	ENSP00000264499:G204A;ENSP00000423626:G204A	ENSP00000264499:G204A	G	-	2	0	BBS7	122995416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.426000	0.80270	2.658000	0.90341	0.650000	0.86243	GGA		PASS	0.299	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			5	37	5	37	---	---	---	---
HSPA4L	22824	broad.mit.edu	37	4	128724970	128724970	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr4:128724970C>T	ENST00000296464.4	+	7	1261	c.850C>T	c.(850-852)Ctt>Ttt	p.L284F	HSPA4L_ENST00000508776.1_Missense_Mutation_p.L284F|HSPA4L_ENST00000439123.2_Missense_Mutation_p.L315F|HSPA4L_ENST00000505726.1_Missense_Mutation_p.L258F	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	284					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.L284F(1)		central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TGCATCAGATCTTCCATTGAA	0.323																																						uc003ifm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(850-852)CTT>TTT		heat shock 70kDa protein 4-like							74.0	77.0	76.0					4																	128724970		2203	4300	6503	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128724970C>T	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.850C>T	4.37:g.128724970C>T	ENSP00000296464:p.Leu284Phe					HSPA4L_uc010iny.1_Missense_Mutation_p.L243F|HSPA4L_uc011cgr.1_Missense_Mutation_p.L251F	p.L284F	NM_014278	NP_055093	O95757	HS74L_HUMAN			7	1103	+			284					A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.850C>T	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255234	0.80135	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01076	5.37;5.37;5.37;5.37;5.37	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000002	T	0.07999	0.0200	M	0.79805	2.47	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.998	T	0.01824	-1.1266	10	0.66056	D	0.02	.	18.1969	0.89825	0.0:1.0:0.0:0.0	.	258;284;284	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	F	284;315;284;243;258	ENSP00000422482:L284F;ENSP00000393926:L315F;ENSP00000296464:L284F;ENSP00000427305:L243F;ENSP00000425645:L258F	ENSP00000296464:L284F	L	+	1	0	HSPA4L	128944420	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.184000	0.58323	2.541000	0.85698	0.585000	0.79938	CTT		PASS	0.323	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278		12	24	12	24	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134073688	134073688	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr4:134073688A>C	ENST00000264360.5	+	1	3219	c.2393A>C	c.(2392-2394)aAc>aCc	p.N798T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	798					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N798T(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GTACCCAGTAACCCGGCCCAG	0.607																																						uc003iha.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2392-2394)AAC>ACC		protocadherin 10 isoform 1 precursor							49.0	47.0	48.0					4																	134073688		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134073688A>C	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2393A>C	4.37:g.134073688A>C	ENSP00000264360:p.Asn798Thr					PCDH10_uc003igz.2_Missense_Mutation_p.N798T	p.N798T	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	1	3219	+			798			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.2393A>C	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.516803	0.27123	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.52057	0.68	5.01	5.01	0.66863	.	0.000000	0.47852	D	0.000214	T	0.30135	0.0755	N	0.12182	0.205	0.34872	D	0.743681	B;B	0.28552	0.118;0.215	B;B	0.28553	0.037;0.091	T	0.42275	-0.9461	10	0.35671	T	0.21	.	12.2597	0.54642	1.0:0.0:0.0:0.0	.	798;798	Q9P2E7;Q96SF0	PCD10_HUMAN;.	T	798	ENSP00000264360:N798T	ENSP00000264360:N798T	N	+	2	0	PCDH10	134293138	0.923000	0.31300	0.959000	0.39883	0.840000	0.47671	1.744000	0.38268	1.883000	0.54544	0.459000	0.35465	AAC		PASS	0.607	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		7	34	7	34	---	---	---	---
PALLD	23022	broad.mit.edu	37	4	169835086	169835086	+	Silent	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr4:169835086C>T	ENST00000505667.1	+	16	2804	c.2631C>T	c.(2629-2631)atC>atT	p.I877I	PALLD_ENST00000335742.7_Silent_p.I702I|PALLD_ENST00000261509.6_Silent_p.I860I|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000512127.1_Silent_p.I478I|PALLD_ENST00000507735.1_Silent_p.I373I			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1084	Interaction with ACTN.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)	p.I702I(1)|p.I860I(1)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AGGGCCGCATCAGTTGTACTG	0.423									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2629-2631)ATC>ATT		palladin isoform 2							91.0	88.0	89.0					4																	169835086		2203	4300	6503	SO:0001819	synonymous_variant	23022	Pancreatic_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169835086C>T	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2631C>T	4.37:g.169835086C>T						CBR4_uc011cjy.1_Intron|PALLD_uc003iru.2_Silent_p.I860I|PALLD_uc003irv.2_Silent_p.I478I|PALLD_uc003irw.2_Silent_p.I362I|PALLD_uc003irx.2_Silent_p.I86I	p.I877I	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	16	2842	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	1084			Ig-like C2-type 3.		B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	ENST00000505667.1	37	c.2631C>T	CCDS54818.1																																																																																				PASS	0.423	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		11	41	11	41	---	---	---	---
ADCY2	108	broad.mit.edu	37	5	7727361	7727361	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr5:7727361C>T	ENST00000338316.4	+	14	1947	c.1858C>T	c.(1858-1860)Ctc>Ttc	p.L620F	ADCY2_ENST00000537121.1_Missense_Mutation_p.L440F|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	620					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|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)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.L620F(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGTGCAGATTCTCGTGCTGCC	0.493																																						uc003jdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(1858-1860)CTC>TTC		adenylate cyclase 2							194.0	173.0	180.0					5																	7727361		2203	4300	6503	SO:0001583	missense	108				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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7727361C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1858C>T	5.37:g.7727361C>T	ENSP00000342952:p.Leu620Phe					ADCY2_uc011cmo.1_Missense_Mutation_p.L440F	p.L620F	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			14	1925	+			620			Helical; (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.1858C>T	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926728	0.52759	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000537121	T;D	0.83914	-1.33;-1.78	5.03	4.15	0.48705	.	0.000000	0.85682	D	0.000000	D	0.87724	0.6249	M	0.67953	2.075	0.42698	D	0.9936	D;P	0.89917	1.0;0.591	D;P	0.91635	0.999;0.473	D	0.87469	0.2413	10	0.62326	D	0.03	.	6.7857	0.23672	0.0:0.8177:0.0:0.1823	.	440;620	B7Z2C1;Q08462	.;ADCY2_HUMAN	F	620;453;440	ENSP00000342952:L620F;ENSP00000444803:L440F	ENSP00000342952:L620F	L	+	1	0	ADCY2	7780361	0.868000	0.29978	0.742000	0.31022	0.591000	0.36615	1.678000	0.37586	2.329000	0.79093	0.650000	0.86243	CTC		PASS	0.493	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		9	65	9	65	---	---	---	---
OTULIN	90268	broad.mit.edu	37	5	14693101	14693101	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr5:14693101G>C	ENST00000284274.4	+	7	1081	c.1003G>C	c.(1003-1005)Gag>Cag	p.E335Q		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		335	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)	p.E335Q(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					GCTCATTGCTGAGGACGATCG	0.562																																						uc003jfk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1003-1005)GAG>CAG		hypothetical protein LOC90268							67.0	71.0	70.0					5																	14693101		2147	4249	6396	SO:0001583	missense	90268							g.chr5:14693101G>C																												ENST00000284274.4:c.1003G>C	5.37:g.14693101G>C	ENSP00000284274:p.Glu335Gln						p.E335Q	NM_138348	NP_612357	Q96BN8	F105B_HUMAN			7	1155	+	Lung NSC(4;0.00696)		335					D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	ENST00000284274.4	37	c.1003G>C	CCDS43302.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.956825|3.956825	0.73902|0.73902	.|.	.|.	ENSG00000154124|ENSG00000154124	ENST00000284274|ENST00000506417	T|.	0.19938|.	2.11|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.75280|.	0.3828|.	M|M	0.66297|0.66297	2.02|2.02	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	T|.	0.72093|.	-0.4394|.	10|.	0.87932|.	D|.	0|.	-30.6222|-30.6222	19.1915|19.1915	0.93669|0.93669	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	335|.	Q96BN8|.	F105B_HUMAN|.	Q|S	335|66	ENSP00000284274:E335Q|.	ENSP00000284274:E335Q|.	E|X	+|+	1|2	0|2	FAM105B|FAM105B	14746101|14746101	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.207000|0.207000	0.24258|0.24258	9.437000|9.437000	0.97535|0.97535	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	GAG|TGA		PASS	0.562	FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1			5	41	5	41	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24535881	24535881	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr5:24535881C>A	ENST00000264463.4	-	4	1084	c.577G>T	c.(577-579)Ggg>Tgg	p.G193W		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	193	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G193W(2)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GCGCTGTTCCCATATGAAGGG	0.468										HNSCC(23;0.051)																												uc003jgr.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(577-579)GGG>TGG		cadherin 10, type 2 preproprotein							133.0	120.0	124.0					5																	24535881		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535881C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.577G>T	5.37:g.24535881C>A	ENSP00000264463:p.Gly193Trp	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.G193W	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	4	909	-			193			Cadherin 2.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.577G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887218	0.91814	.	.	ENSG00000040731	ENST00000264463	T	0.57107	0.42	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82774	0.5110	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86888	0.2046	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	193	Q9Y6N8	CAD10_HUMAN	W	193	ENSP00000264463:G193W	ENSP00000264463:G193W	G	-	1	0	CDH10	24571638	1.000000	0.71417	0.988000	0.46212	0.979000	0.70002	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGG		PASS	0.468	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		8	47	8	47	---	---	---	---
ACTBL2	345651	broad.mit.edu	37	5	56778146	56778146	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr5:56778146G>T	ENST00000423391.1	-	1	490	c.389C>A	c.(388-390)aCa>aAa	p.T130K	CTD-2023N9.1_ENST00000506106.1_RNA|AC025470.1_ENST00000584598.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	130						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.T130K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CATGGCTGGTGTGTTGAAAGC	0.562																																						uc003jrm.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(388-390)ACA>AAA		actin, beta-like 2							120.0	99.0	106.0					5																	56778146		2203	4300	6503	SO:0001583	missense	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56778146G>T		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.389C>A	5.37:g.56778146G>T	ENSP00000416706:p.Thr130Lys						p.T130K	NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	1	491	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	130					B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	c.389C>A	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	G	9.285	1.049200	0.19827	.	.	ENSG00000169067	ENST00000423391	D	0.97279	-4.32	4.77	4.77	0.60923	.	0.308653	0.26126	N	0.026198	D	0.98776	0.9588	H	0.95504	3.68	0.36926	D	0.891649	D	0.56035	0.974	D	0.64042	0.921	D	0.99962	1.1758	10	0.87932	D	0	.	15.3116	0.74039	0.0:0.0:1.0:0.0	.	130	Q562R1	ACTBL_HUMAN	K	130	ENSP00000416706:T130K	ENSP00000416706:T130K	T	-	2	0	ACTBL2	56813903	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	3.890000	0.56220	2.452000	0.82932	0.655000	0.94253	ACA		PASS	0.562	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992		4	50	4	50	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89986823	89986823	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr5:89986823G>C	ENST00000405460.2	+	31	7012	c.6916G>C	c.(6916-6918)Gag>Cag	p.E2306Q		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2306	Calx-beta 16. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.E2306Q(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTGTTGTTAGAGGTCCTGGC	0.483																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(6916-6918)GAG>CAG		G protein-coupled receptor 98 precursor							136.0	131.0	132.0					5																	89986823		1953	4154	6107	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89986823G>C	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.6916G>C	5.37:g.89986823G>C	ENSP00000384582:p.Glu2306Gln					GPR98_uc003kjt.2_Intron|GPR98_uc003kjv.2_5'Flank	p.E2306Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	31	7012	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	2306			Calx-beta 16.|Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.6916G>C	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960847	0.92791	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.27402	1.67	5.94	5.94	0.96194	Na-Ca exchanger/integrin-beta4 (1);	0.045701	0.85682	D	0.000000	T	0.48223	0.1488	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.40664	-0.9551	10	0.66056	D	0.02	.	20.3593	0.98849	0.0:0.0:1.0:0.0	.	2306	Q8WXG9	GPR98_HUMAN	Q	2306	ENSP00000384582:E2306Q	ENSP00000296619:E2306Q	E	+	1	0	GPR98	90022579	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.786000	0.99046	2.807000	0.96579	0.591000	0.81541	GAG		PASS	0.483	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		17	36	17	36	---	---	---	---
ST8SIA4	7903	broad.mit.edu	37	5	100222116	100222116	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr5:100222116A>T	ENST00000231461.5	-	3	744	c.434T>A	c.(433-435)gTt>gAt	p.V145D	ST8SIA4_ENST00000507360.2_5'UTR|ST8SIA4_ENST00000451528.2_Missense_Mutation_p.V145D	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	145					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.V145D(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		AGAATTTCCAACAACTGCACA	0.408																																						uc003knk.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(433-435)GTT>GAT		ST8 alpha-N-acetyl-neuraminide							101.0	100.0	100.0					5																	100222116		2203	4300	6503	SO:0001583	missense	7903				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr5:100222116A>T	L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.434T>A	5.37:g.100222116A>T	ENSP00000231461:p.Val145Asp					ST8SIA4_uc003knl.2_Missense_Mutation_p.V145D	p.V145D	NM_005668	NP_005659	Q92187	SIA8D_HUMAN		COAD - Colon adenocarcinoma(37;0.00402)	3	762	-		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)	145			Lumenal (Potential).		A8KA07|G3V104|Q8N1F4|Q92693	Missense_Mutation	SNP	ENST00000231461.5	37	c.434T>A	CCDS4091.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.874210	0.91664	.	.	ENSG00000113532	ENST00000231461;ENST00000451528	T;T	0.61274	0.12;0.12	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000001	D	0.85539	0.5720	H	0.98388	4.22	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91073	0.4894	10	0.87932	D	0	-6.8678	15.5406	0.76043	1.0:0.0:0.0:0.0	.	145	Q92187	SIA8D_HUMAN	D	145	ENSP00000231461:V145D;ENSP00000428914:V145D	ENSP00000231461:V145D	V	-	2	0	ST8SIA4	100250015	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.923000	0.92808	2.266000	0.75297	0.455000	0.32223	GTT		PASS	0.408	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250632.3	NM_005668		21	50	21	50	---	---	---	---
CHSY3	337876	broad.mit.edu	37	5	129520539	129520539	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr5:129520539C>A	ENST00000305031.4	+	3	2062	c.1704C>A	c.(1702-1704)agC>agA	p.S568R		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	568					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.S568R(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AGTTGTTCAGCAAGCCTTTCT	0.398																																						uc003kvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1702-1704)AGC>AGA		chondroitin sulfate synthase 3							87.0	93.0	91.0					5																	129520539		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520539C>A	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.1704C>A	5.37:g.129520539C>A	ENSP00000302629:p.Ser568Arg						p.S568R	NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	1704	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	568			Lumenal (Potential).		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.1704C>A	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214419	0.58452	.	.	ENSG00000198108	ENST00000305031	T	0.20332	2.08	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000001	T	0.46367	0.1389	M	0.73598	2.24	0.58432	D	0.999998	D	0.69078	0.997	D	0.67725	0.953	T	0.41734	-0.9492	9	.	.	.	-6.665	18.2607	0.90034	0.0:1.0:0.0:0.0	.	568	Q70JA7	CHSS3_HUMAN	R	568	ENSP00000302629:S568R	.	S	+	3	2	CHSY3	129548438	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.519000	0.45546	2.708000	0.92522	0.650000	0.86243	AGC		PASS	0.398	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		3	29	3	29	---	---	---	---
PCDHA3	56145	broad.mit.edu	37	5	140183011	140183011	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr5:140183011C>A	ENST00000522353.2	+	1	2229	c.2229C>A	c.(2227-2229)agC>agA	p.S743R	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S743R|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	743	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S743S(4)|p.S743R(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGCTCCAGCGCGGTGGGGA	0.637																																						uc003lhf.2																			6	Substitution - coding silent(4)|Substitution - Missense(2)		prostate(2)|lung(2)|endometrium(2)	ovary(6)|skin(2)	8						c.(2227-2229)AGC>AGA		protocadherin alpha 3 isoform 1 precursor							78.0	85.0	83.0					5																	140183011		2203	4300	6503	SO:0001583	missense	56145				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140183011C>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.2229C>A	5.37:g.140183011C>A	ENSP00000429808:p.Ser743Arg					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.S743R	p.S743R	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2229	+			743			Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P.		O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.2229C>A	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	18.73	3.686089	0.68157	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.81247	-1.47;-1.47	4.16	2.3	0.28687	.	0.000000	0.49916	U	0.000140	T	0.81955	0.4932	M	0.85710	2.77	0.26047	N	0.981534	P;B	0.44877	0.845;0.282	P;B	0.44811	0.461;0.202	T	0.74542	-0.3631	10	0.46703	T	0.11	.	9.4896	0.38951	0.0:0.7497:0.0:0.2503	.	743;743	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	R	743	ENSP00000429808:S743R;ENSP00000434086:S743R	ENSP00000429808:S743R	S	+	3	2	PCDHA3	140163195	0.017000	0.18338	1.000000	0.80357	0.979000	0.70002	0.115000	0.15540	0.867000	0.35654	0.467000	0.42956	AGC		PASS	0.637	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		4	209	4	209	---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140209689	140209689	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr5:140209689G>C	ENST00000529310.1	+	1	2127	c.2013G>C	c.(2011-2013)gaG>gaC	p.E671D	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	671	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E671D(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGGTGGAGAGTGGCCAGG	0.677																																						uc003lho.2																			2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(2011-2013)GAG>GAC		protocadherin alpha 6 isoform 1 precursor							38.0	45.0	43.0					5																	140209689		2202	4298	6500	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209689G>C	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2013G>C	5.37:g.140209689G>C	ENSP00000433378:p.Glu671Asp					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_uc011dab.1_Missense_Mutation_p.E671D	p.E671D	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2040	+			671			Cadherin 6.|Extracellular (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.2013G>C	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	0.113	-1.135805	0.01742	.	.	ENSG00000081842	ENST00000529310	T	0.47177	0.85	3.76	-2.35	0.06684	Cadherin (2);Cadherin-like (1);	0.224197	0.22040	U	0.065479	T	0.17152	0.0412	N	0.11427	0.14	0.29414	N	0.861053	B;B	0.15141	0.002;0.012	B;B	0.14578	0.011;0.011	T	0.25502	-1.0130	10	0.06494	T	0.89	.	3.7376	0.08517	0.0853:0.3865:0.2897:0.2384	.	671;671	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	D	671	ENSP00000433378:E671D	ENSP00000433378:E671D	E	+	3	2	PCDHA6	140189873	.	.	0.495000	0.27527	0.020000	0.10135	.	.	-0.236000	0.09753	0.306000	0.20318	GAG		PASS	0.677	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		39	65	39	65	---	---	---	---
PCDHGA3	56112	broad.mit.edu	37	5	140725244	140725244	+	Silent	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr5:140725244G>A	ENST00000253812.6	+	1	1644	c.1644G>A	c.(1642-1644)ctG>ctA	p.L548L	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	548	Cadherin 5. {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.L548L(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGTCGCTGAACCTGTTCG	0.612																																						uc003ljm.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1642-1644)CTG>CTA		protocadherin gamma subfamily A, 3 isoform 1							131.0	142.0	138.0					5																	140725244		2203	4300	6503	SO:0001819	synonymous_variant	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140725244G>A	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.1644G>A	5.37:g.140725244G>A						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.L308L|PCDHGA3_uc011dap.1_Silent_p.L548L	p.L548L	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1644	+			548			Extracellular (Potential).|Cadherin 5.		Q9Y5D4	Silent	SNP	ENST00000253812.6	37	c.1644G>A	CCDS47290.1																																																																																				PASS	0.612	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		111	145	111	145	---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168093540	168093540	+	Silent	SNP	G	G	A	rs202109860		TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr5:168093540G>A	ENST00000519560.1	-	36	4910	c.4491C>T	c.(4489-4491)taC>taT	p.Y1497Y	SLIT3_ENST00000332966.8_Silent_p.Y1504Y|CTC-558O2.2_ENST00000520041.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1497	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.Y1497Y(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTGGAAGACGTATTTCCGCC	0.627																																					Ovarian(29;311 847 10864 17279 24903)	uc003mab.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(4489-4491)TAC>TAT		slit homolog 3 precursor							50.0	43.0	45.0					5																	168093540		2203	4300	6503	SO:0001819	synonymous_variant	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168093540G>A	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.4491C>T	5.37:g.168093540G>A						SLIT3_uc010jjg.2_Silent_p.Y1504Y	p.Y1497Y	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		36	4911	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	1497			CTCK.		A6H8U9|J3KNP3|O95804|Q9UFH5	Silent	SNP	ENST00000519560.1	37	c.4491C>T	CCDS4369.1																																																																																				PASS	0.627	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		3	31	3	31	---	---	---	---
HIST1H2BC	8347	broad.mit.edu	37	6	26123911	26123911	+	Silent	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr6:26123911G>A	ENST00000314332.5	-	1	227	c.222C>T	c.(220-222)atC>atT	p.I74I	HIST1H2BC_ENST00000396984.1_Silent_p.I74I|HIST1H2AC_ENST00000602637.1_5'Flank|HIST1H2AC_ENST00000377791.2_5'Flank			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	74					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I74I(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						CCTCGCCCGCGATGCGCTCAA	0.582																																						uc003ngk.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(220-222)ATC>ATT		histone cluster 1, H2bc							120.0	118.0	119.0					6																	26123911		2203	4300	6503	SO:0001819	synonymous_variant	8347				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26123911G>A	Z80783	CCDS4584.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000180596	ENSG00000180596		"""Histones / Replication-dependent"""	4757	protein-coding gene	gene with protein product		602847	"""H2B histone family, member L"", ""histone 1, H2bc"""	H2BFL		9119399, 12408966	Standard	NM_003526		Approved	H2B/l, H2B.1	uc003ngl.3	P62807	OTTHUMG00000014425	ENST00000314332.5:c.222C>T	6.37:g.26123911G>A						HIST1H2BC_uc003ngl.2_Silent_p.I74I|HIST1H2AC_uc003ngm.2_5'Flank|HIST1H2AC_uc003ngn.2_5'Flank|HIST1H2AC_uc003ngo.2_5'Flank|HIST1H2AC_uc003ngp.2_5'Flank	p.I74I	NM_003526	NP_003517	P62807	H2B1C_HUMAN			1	244	-			74					P02278|Q3B872|Q4VB69|Q93078|Q93080	Silent	SNP	ENST00000314332.5	37	c.222C>T	CCDS4584.1																																																																																				PASS	0.582	HIST1H2BC-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468022.1	NM_003526		48	151	48	151	---	---	---	---
RNF5	6048	broad.mit.edu	37	6	32147865	32147865	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr6:32147865C>T	ENST00000375094.3	+	5	565	c.407C>T	c.(406-408)aCc>aTc	p.T136I	AGPAT1_ENST00000375104.2_5'Flank|RNF5_ENST00000427134.2_Missense_Mutation_p.T136I|AGPAT1_ENST00000490711.1_5'Flank|AGPAT1_ENST00000336984.6_5'Flank|AGPAT1_ENST00000395497.1_5'Flank	NM_006913.3	NP_008844.1	Q99942	RNF5_HUMAN	ring finger protein 5, E3 ubiquitin protein ligase	136					cellular protein catabolic process (GO:0044257)|ER-associated misfolded protein catabolic process (GO:0071712)|negative regulation of autophagy (GO:0010507)|protein destabilization (GO:0031648)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|regulation of autophagic vacuole assembly (GO:2000785)|response to bacterium (GO:0009617)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T136I(3)		endometrium(1)|lung(7)|urinary_tract(2)	10						TTTTTCACCACCGTCTTCAAT	0.557																																						uc003oaj.3																			3	Substitution - Missense(3)		lung(3)		0						c.(406-408)ACC>ATC		ring finger protein 5							151.0	153.0	152.0					6																	32147865		1511	2709	4220	SO:0001583	missense	6048				ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:32147865C>T	U89336	CCDS4745.1	6p21.31	2013-01-09	2012-02-23			ENSG00000204308		"""RING-type (C3HC4) zinc fingers"""	10068	protein-coding gene	gene with protein product		602677	"""ring finger protein 5"""			9533025	Standard	NM_006913		Approved	NG2, G16, RING5, RMA1	uc031snv.1	Q99942	OTTHUMG00000031093	ENST00000375094.3:c.407C>T	6.37:g.32147865C>T	ENSP00000364235:p.Thr136Ile					AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank	p.T136I	NM_006913	NP_008844	Q99942	RNF5_HUMAN			5	534	+			136			Helical; (Potential).		A2BFI6|B2R4K3|Q0VDB7|Q9UMQ2	Missense_Mutation	SNP	ENST00000375094.3	37	c.407C>T	CCDS4745.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403896	0.83230	.	.	ENSG00000204308	ENST00000375094;ENST00000427134	D;D	0.93604	-3.25;-3.25	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.86723	0.6001	L	0.47716	1.5	0.58432	D	0.999999	B	0.33345	0.409	B	0.27715	0.082	D	0.86266	0.1658	10	0.37606	T	0.19	-2.0092	16.9524	0.86249	0.0:1.0:0.0:0.0	.	136	Q99942	RNF5_HUMAN	I	136	ENSP00000364235:T136I;ENSP00000407656:T136I	ENSP00000364235:T136I	T	+	2	0	RNF5	32255843	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.897000	0.75671	2.666000	0.90696	0.655000	0.94253	ACC		PASS	0.557	RNF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076133.2	NM_006913		9	210	9	210	---	---	---	---
NOTCH4	4855	broad.mit.edu	37	6	32163533	32163533	+	Missense_Mutation	SNP	C	C	G	rs370041101		TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr6:32163533C>G	ENST00000375023.3	-	30	5831	c.5693G>C	c.(5692-5694)cGg>cCg	p.R1898P	NOTCH4_ENST00000443903.2_3'UTR|GPSM3_ENST00000487761.1_5'Flank|GPSM3_ENST00000375043.3_5'Flank|GPSM3_ENST00000375040.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1898					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.R1898P(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CGAGAGGCTCCGGCAATGAGA	0.687																																						uc003obb.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(5692-5694)CGG>CCG		notch4 preproprotein							18.0	23.0	21.0					6																	32163533		1504	2699	4203	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32163533C>G		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5693G>C	6.37:g.32163533C>G	ENSP00000364163:p.Arg1898Pro					GPSM3_uc003oax.3_5'Flank|GPSM3_uc003oay.3_5'Flank|GPSM3_uc003oaz.2_5'Flank|NOTCH4_uc011dpt.1_3'UTR|NOTCH4_uc003oba.2_Missense_Mutation_p.R558P|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	p.R1898P	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			30	5832	-			1898			Cytoplasmic (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.5693G>C	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545832	0.45280	.	.	ENSG00000204301	ENST00000375023	D	0.81499	-1.5	4.28	1.3	0.21679	.	1.064910	0.07424	N	0.894430	T	0.43964	0.1271	N	0.14661	0.345	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.08055	0.002;0.003	T	0.49390	-0.8945	10	0.30078	T	0.28	.	4.0108	0.09621	0.0:0.5849:0.1975:0.2176	.	1898;1897	Q99466;B0S882	NOTC4_HUMAN;.	P	1898	ENSP00000364163:R1898P	ENSP00000364163:R1898P	R	-	2	0	NOTCH4	32271511	0.324000	0.24652	0.975000	0.42487	0.425000	0.31504	0.017000	0.13399	0.557000	0.29117	0.555000	0.69702	CGG		PASS	0.687	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			13	22	13	22	---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85446684	85446684	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr6:85446684G>C	ENST00000369663.5	-	8	1880	c.1543C>G	c.(1543-1545)Cag>Gag	p.Q515E	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	515					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.Q515*(1)|p.Q515E(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TAGGAACCCTGATGGGTCTGG	0.483																																						uc003pkl.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(2)|pancreas(2)|lung(1)	5						c.(1543-1545)CAG>GAG		T-box 18							131.0	145.0	140.0					6																	85446684		2203	4300	6503	SO:0001583	missense	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446684G>C	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1543C>G	6.37:g.85446684G>C	ENSP00000358677:p.Gln515Glu					TBX18_uc010kbq.1_Intron	p.Q515E	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1543	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	515					A2RU13|Q7Z6U4|Q9UJI6	Missense_Mutation	SNP	ENST00000369663.5	37	c.1543C>G	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457075	0.43634	.	.	ENSG00000112837	ENST00000369663	D	0.90788	-2.73	5.26	5.26	0.73747	.	0.335943	0.35739	N	0.003006	D	0.86422	0.5929	L	0.34521	1.04	0.80722	D	1	P	0.50369	0.934	P	0.46885	0.53	D	0.88545	0.3112	10	0.66056	D	0.02	.	18.8443	0.92198	0.0:0.0:1.0:0.0	.	515	O95935	TBX18_HUMAN	E	515	ENSP00000358677:Q515E	ENSP00000358677:Q515E	Q	-	1	0	TBX18	85503403	1.000000	0.71417	0.997000	0.53966	0.162000	0.22319	9.044000	0.93805	2.453000	0.82957	0.585000	0.79938	CAG		PASS	0.483	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		41	193	41	193	---	---	---	---
FUT9	10690	broad.mit.edu	37	6	96651713	96651713	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr6:96651713G>A	ENST00000302103.5	+	3	1008	c.682G>A	c.(682-684)Gat>Aat	p.D228N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	228					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)	p.D228N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATATGTCAATGATAAAAATTT	0.348																																					Melanoma(98;1369 1476 6592 22940 26587)	uc003pop.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)	5						c.(682-684)GAT>AAT		fucosyltransferase 9 (alpha (1,3)							46.0	46.0	46.0					6																	96651713		2203	4300	6503	SO:0001583	missense	10690				L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	g.chr6:96651713G>A	AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.682G>A	6.37:g.96651713G>A	ENSP00000302599:p.Asp228Asn						p.D228N	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.08)	3	1023	+		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)	228			Lumenal (Potential).		Q5T0W4	Missense_Mutation	SNP	ENST00000302103.5	37	c.682G>A	CCDS5033.1	.	.	.	.	.	.	.	.	.	.	G	7.176	0.588570	0.13812	.	.	ENSG00000172461	ENST00000302103	T	0.24350	1.86	5.75	3.98	0.46160	.	0.249775	0.45867	N	0.000338	T	0.08980	0.0222	L	0.41492	1.28	0.58432	D	0.999993	B	0.24576	0.106	B	0.29440	0.102	T	0.07986	-1.0744	10	0.14656	T	0.56	-8.5525	11.1868	0.48662	0.1463:0.0:0.8537:0.0	.	228	Q9Y231	FUT9_HUMAN	N	228	ENSP00000302599:D228N	ENSP00000302599:D228N	D	+	1	0	FUT9	96758434	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.454000	0.66651	0.787000	0.33731	0.655000	0.94253	GAT		PASS	0.348	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041554.2	NM_006581		4	19	4	19	---	---	---	---
NR2E1	7101	broad.mit.edu	37	6	108502128	108502128	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr6:108502128C>T	ENST00000368986.4	+	7	1565	c.857C>T	c.(856-858)gCc>gTc	p.A286V	NR2E1_ENST00000368983.3_Missense_Mutation_p.A323V	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	286	Ligand-binding. {ECO:0000250}.				aggressive behavior (GO:0002118)|amygdala development (GO:0021764)|anterior commissure morphogenesis (GO:0021960)|behavioral fear response (GO:0001662)|cell fate commitment (GO:0045165)|cerebral cortex neuron differentiation (GO:0021895)|dentate gyrus development (GO:0021542)|extracellular matrix organization (GO:0030198)|forebrain generation of neurons (GO:0021872)|gene expression (GO:0010467)|glial cell migration (GO:0008347)|layer formation in cerebral cortex (GO:0021819)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|olfactory bulb development (GO:0021772)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle (GO:0045787)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of stem cell proliferation (GO:2000648)|regulation of cell migration involved in sprouting angiogenesis (GO:0090049)|regulation of dendrite morphogenesis (GO:0048814)|regulation of timing of neuron differentiation (GO:0060164)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)	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)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A286V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		ACTGAATTTGCCTGTCTAAAA	0.458																																						uc003psg.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(856-858)GCC>GTC		nuclear receptor subfamily 2, group E, member 1							161.0	156.0	158.0					6																	108502128		2203	4300	6503	SO:0001583	missense	7101				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr6:108502128C>T	Y13276	CCDS5063.1, CCDS69165.1	6q21	2013-01-16			ENSG00000112333	ENSG00000112333		"""Nuclear hormone receptors"""	7973	protein-coding gene	gene with protein product		603849		TLX		9628820	Standard	NM_003269		Approved	TLL, XTLL	uc003psg.3	Q9Y466	OTTHUMG00000015319	ENST00000368986.4:c.857C>T	6.37:g.108502128C>T	ENSP00000357982:p.Ala286Val						p.A286V	NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)	7	1612	+		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)	286			Ligand-binding (By similarity).		Q6ZMP8	Missense_Mutation	SNP	ENST00000368986.4	37	c.857C>T	CCDS5063.1	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747117	0.69418	.	.	ENSG00000112333	ENST00000368986;ENST00000368983	D;D	0.97505	-4.41;-4.41	5.02	5.02	0.67125	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.098018	0.64402	D	0.000001	D	0.92629	0.7658	L	0.33624	1.015	0.80722	D	1	B	0.32283	0.362	B	0.33196	0.159	D	0.91625	0.5314	10	0.34782	T	0.22	.	18.5138	0.90928	0.0:1.0:0.0:0.0	.	286	Q9Y466	NR2E1_HUMAN	V	286;323	ENSP00000357982:A286V;ENSP00000357979:A323V	ENSP00000357979:A323V	A	+	2	0	NR2E1	108608821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.614000	0.88457	0.655000	0.94253	GCC		PASS	0.458	NR2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041712.2			5	219	5	219	---	---	---	---
CD164	8763	broad.mit.edu	37	6	109700790	109700790	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr6:109700790T>C	ENST00000310786.4	-	2	316	c.251A>G	c.(250-252)gAa>gGa	p.E84G	CD164_ENST00000275080.7_Missense_Mutation_p.E84G|CD164_ENST00000504373.1_Missense_Mutation_p.E50G|CD164_ENST00000413644.2_Missense_Mutation_p.E84G|CD164_ENST00000324953.5_Missense_Mutation_p.E84G|CD164_ENST00000506649.1_5'UTR|CD164_ENST00000512821.1_Missense_Mutation_p.E84G|CD164_ENST00000368961.5_Missense_Mutation_p.E84G	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	84					cell adhesion (GO:0007155)|hemopoiesis (GO:0030097)|heterophilic cell-cell adhesion (GO:0007157)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.E84G(1)		breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		ACCTTTACATTCTATCCAAAA	0.378																																						uc003pte.2																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)GAA>GGA		CD164 molecule, sialomucin isoform 1							94.0	97.0	96.0					6																	109700790		2203	4300	6503	SO:0001583	missense	8763				hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding	g.chr6:109700790T>C	AF106518	CCDS5073.1, CCDS47462.1, CCDS47463.1, CCDS47464.1, CCDS47465.1	6q21	2014-09-05	2006-03-28		ENSG00000135535	ENSG00000135535		"""CD molecules"""	1632	protein-coding gene	gene with protein product		603356	"""CD164 antigen, sialomucin"""			9680353, 9763543	Standard	NM_006016		Approved	MUC-24, MGC-24	uc003pte.3	Q04900	OTTHUMG00000015339	ENST00000310786.4:c.251A>G	6.37:g.109700790T>C	ENSP00000309376:p.Glu84Gly					CD164_uc003ptd.2_Missense_Mutation_p.E84G|CD164_uc003ptf.2_Missense_Mutation_p.E84G|CD164_uc011eap.1_Missense_Mutation_p.E84G|CD164_uc010kdn.2_Missense_Mutation_p.E84G	p.E84G	NM_006016	NP_006007	Q04900	MUC24_HUMAN		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)	2	432	-		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)	84			Extracellular (Potential).		B4DQ85|E1P5E7|E1P5E8|E1P5E9|O95413|Q5JSU6|Q9BPV0|Q9NR26	Missense_Mutation	SNP	ENST00000310786.4	37	c.251A>G	CCDS5073.1	.	.	.	.	.	.	.	.	.	.	T	16.23	3.063832	0.55432	.	.	ENSG00000135535	ENST00000413644;ENST00000368961;ENST00000324953;ENST00000310786;ENST00000275080;ENST00000512821;ENST00000504373	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	4.04	1.33	0.21861	.	0.836726	0.10388	N	0.680783	T	0.32376	0.0827	L	0.53249	1.67	0.23180	N	0.998163	D;P;P;P;P	0.54964	0.969;0.902;0.902;0.818;0.782	P;P;B;P;P	0.53401	0.725;0.52;0.382;0.639;0.506	T	0.13388	-1.0511	10	0.59425	D	0.04	-0.0532	2.9525	0.05866	0.3884:0.1094:0.0:0.5022	.	84;84;84;84;84	Q04900-5;Q04900-3;Q04900-4;Q04900;Q04900-2	.;.;.;MUC24_HUMAN;.	G	84;84;84;84;84;84;50	ENSP00000402237:E84G;ENSP00000357957:E84G;ENSP00000314177:E84G;ENSP00000309376:E84G;ENSP00000275080:E84G;ENSP00000427546:E84G;ENSP00000422999:E50G	ENSP00000275080:E84G	E	-	2	0	CD164	109807483	0.291000	0.24352	0.992000	0.48379	0.994000	0.84299	0.283000	0.18846	0.668000	0.31126	0.533000	0.62120	GAA		PASS	0.378	CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041742.1	NM_006016		14	67	14	67	---	---	---	---
GPR6	2830	broad.mit.edu	37	6	110300475	110300475	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr6:110300475C>G	ENST00000275169.3	+	1	178	c.160C>G	c.(160-162)Ctg>Gtg	p.L54V	GPR6_ENST00000414000.2_Missense_Mutation_p.L69V	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	54					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.L54V(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		TAATGGGTCTCTGGAGCTGTC	0.721																																						uc011eaw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(160-162)CTG>GTG		G protein-coupled receptor 6							45.0	56.0	52.0					6																	110300475		2202	4295	6497	SO:0001583	missense	2830					integral to plasma membrane		g.chr6:110300475C>G		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.160C>G	6.37:g.110300475C>G	ENSP00000275169:p.Leu54Val					GPR6_uc011eav.1_Missense_Mutation_p.L69V|GPR6_uc003ptu.2_Missense_Mutation_p.L54V	p.L54V	NM_005284	NP_005275	P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	2	340	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	54			Extracellular (Potential).		B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	Missense_Mutation	SNP	ENST00000275169.3	37	c.160C>G	CCDS5079.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.411757	0.25465	.	.	ENSG00000146360	ENST00000428489;ENST00000414000;ENST00000275169	T;T	0.72615	-0.67;-0.63	4.83	4.83	0.62350	.	2.012890	0.03011	N	0.149497	T	0.51856	0.1699	N	0.17474	0.49	0.47905	D	0.999547	D;P	0.62365	0.991;0.765	P;B	0.51016	0.656;0.22	T	0.53143	-0.8480	10	0.13470	T	0.59	.	11.5703	0.50830	0.0:0.9179:0.0:0.0821	.	69;54	B4DHS9;P46095	.;GPR6_HUMAN	V	54;69;54	ENSP00000406986:L69V;ENSP00000275169:L54V	ENSP00000275169:L54V	L	+	1	2	GPR6	110407168	0.934000	0.31675	0.970000	0.41538	0.692000	0.40212	1.988000	0.40697	2.504000	0.84457	0.563000	0.77884	CTG		PASS	0.721	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1			34	238	34	238	---	---	---	---
WISP3	8838	broad.mit.edu	37	6	112389443	112389443	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr6:112389443T>A	ENST00000368666.2	+	4	911	c.625T>A	c.(625-627)Tgt>Agt	p.C209S	WISP3_ENST00000361714.1_Missense_Mutation_p.C227S|WISP3_ENST00000368663.3_Missense_Mutation_p.C186S|WISP3_ENST00000604763.1_Missense_Mutation_p.C209S|WISP3_ENST00000230529.5_Missense_Mutation_p.C209S|WISP3_ENST00000409166.1_5'UTR	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	209	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)		p.C227S(1)		breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GAAAAAAAAATGTCTTGTGCA	0.333																																						uc003pvm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(625-627)TGT>AGT		WNT1 inducible signaling pathway protein 3							52.0	51.0	51.0					6																	112389443		2203	4299	6502	SO:0001583	missense	8838				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding	g.chr6:112389443T>A	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.625T>A	6.37:g.112389443T>A	ENSP00000357655:p.Cys209Ser					WISP3_uc003pvn.2_RNA|WISP3_uc003pvo.2_Missense_Mutation_p.C227S	p.C209S	NM_003880	NP_003871	O95389	WISP3_HUMAN		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)	5	735	+		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	209			TSP type-1.		Q3KR29|Q5H8W4|Q6UXH6	Missense_Mutation	SNP	ENST00000368666.2	37	c.625T>A	CCDS5098.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.6|24.6	4.549095|4.549095	0.86127|0.86127	.|.	.|.	ENSG00000112761|ENSG00000112761	ENST00000368666;ENST00000230529;ENST00000361714;ENST00000368663|ENST00000541400	T;T;T;T|.	0.60920|.	0.15;0.15;0.15;0.15|.	5.8|5.8	4.62|4.62	0.57501|0.57501	.|.	0.134507|.	0.64402|.	N|.	0.000001|.	T|T	0.65512|0.65512	0.2698|0.2698	M|M	0.88570|0.88570	2.965|2.965	0.80722|0.80722	D|D	1|1	D;B|.	0.76494|.	0.999;0.429|.	D;B|.	0.72075|.	0.976;0.102|.	T|T	0.68247|0.68247	-0.5459|-0.5459	10|6	0.87932|0.17369	D|T	0|0.5	0.6802|0.6802	12.2307|12.2307	0.54486|0.54486	0.1276:0.0:0.0:0.8724|0.1276:0.0:0.0:0.8724	.|.	227;209|.	O95389-2;O95389|.	.;WISP3_HUMAN|.	S|K	209;209;227;186|208	ENSP00000357655:C209S;ENSP00000230529:C209S;ENSP00000354734:C227S;ENSP00000357652:C186S|.	ENSP00000230529:C209S|ENSP00000438104:N208K	C|N	+|+	1|3	0|2	WISP3|WISP3	112496136|112496136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.992000|7.992000	0.88273|0.88273	0.983000|0.983000	0.38602|0.38602	0.533000|0.533000	0.62120|0.62120	TGT|AAT		PASS	0.333	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041873.2	NM_003880		14	21	14	21	---	---	---	---
PHACTR2	9749	broad.mit.edu	37	6	144086763	144086763	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr6:144086763G>A	ENST00000427704.2	+	6	1157	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	PHACTR2_ENST00000305766.6_Missense_Mutation_p.E263K|PHACTR2_ENST00000367584.4_Missense_Mutation_p.E331K|PHACTR2_ENST00000440869.2_Missense_Mutation_p.E354K|PHACTR2_ENST00000367582.3_Missense_Mutation_p.E274K	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	343							protein phosphatase inhibitor activity (GO:0004864)	p.E263K(1)|p.E354K(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCTCCCTCTTGAGGATCAGTG	0.592																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	uc003qjq.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1027-1029)GAG>AAG		phosphatase and actin regulator 2 isoform 3							60.0	65.0	63.0					6																	144086763		2014	4159	6173	SO:0001583	missense	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144086763G>A	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.1027G>A	6.37:g.144086763G>A	ENSP00000391763:p.Glu343Lys					PHACTR2_uc010khh.2_Missense_Mutation_p.E263K|PHACTR2_uc010khi.2_Missense_Mutation_p.E354K|PHACTR2_uc003qjr.3_Missense_Mutation_p.E274K	p.E343K	NM_014721	NP_055536	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	6	1157	+			343					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Missense_Mutation	SNP	ENST00000427704.2	37	c.1027G>A	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713890	0.68730	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582	T;T;T;T;T	0.32023	1.47;1.9;1.51;1.89;1.5	5.22	3.43	0.39272	.	0.904262	0.09418	N	0.804803	T	0.25901	0.0631	L	0.50333	1.59	0.20638	N	0.999877	D;B;B;B	0.63880	0.993;0.001;0.001;0.0	P;B;B;B	0.60789	0.879;0.002;0.002;0.001	T	0.09164	-1.0687	10	0.20519	T	0.43	.	9.4994	0.39008	0.1622:0.0:0.8378:0.0	.	354;263;274;343	O75167-4;O75167-5;O75167-2;O75167	.;.;.;PHAR2_HUMAN	K	331;343;263;354;274	ENSP00000356556:E331K;ENSP00000391763:E343K;ENSP00000305530:E263K;ENSP00000417038:E354K;ENSP00000356554:E274K	ENSP00000305530:E263K	E	+	1	0	PHACTR2	144128456	0.058000	0.20735	0.005000	0.12908	0.002000	0.02628	1.513000	0.35823	1.214000	0.43395	-0.140000	0.14226	GAG		PASS	0.592	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		14	83	14	83	---	---	---	---
RMND1	55005	broad.mit.edu	37	6	151766679	151766679	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr6:151766679C>G	ENST00000367303.4	-	2	390	c.268G>C	c.(268-270)Gat>Cat	p.D90H	RMND1_ENST00000491268.1_5'UTR|RMND1_ENST00000336451.3_5'Flank	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	90					translation (GO:0006412)	mitochondrion (GO:0005739)		p.D90H(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		GCCTTTTCATCTTGGCAACGA	0.393																																						uc003qoi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(268-270)GAT>CAT		required for meiotic nuclear division 1 homolog							206.0	192.0	197.0					6																	151766679		2203	4300	6503	SO:0001583	missense	55005							g.chr6:151766679C>G	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.268G>C	6.37:g.151766679C>G	ENSP00000356272:p.Asp90His					RMND1_uc011eeq.1_5'Flank|RMND1_uc003qoj.2_Missense_Mutation_p.D90H|RMND1_uc011eer.1_Missense_Mutation_p.D90H	p.D90H	NM_017909	NP_060379	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	2	448	-		Ovarian(120;0.125)	90					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Missense_Mutation	SNP	ENST00000367303.4	37	c.268G>C	CCDS5232.1	.	.	.	.	.	.	.	.	.	.	C	8.447	0.852167	0.17034	.	.	ENSG00000155906	ENST00000367303	T	0.46063	0.88	5.46	0.524	0.17066	.	1.255430	0.05291	N	0.521106	T	0.09247	0.0228	N	0.14661	0.345	0.09310	N	1	B;B	0.14012	0.009;0.001	B;B	0.14578	0.011;0.001	T	0.26395	-1.0104	10	0.28530	T	0.3	-1.0124	5.975	0.19373	0.0:0.5833:0.1295:0.2873	.	90;90	Q9NWS8-3;Q9NWS8	.;RMND1_HUMAN	H	90	ENSP00000356272:D90H	ENSP00000356272:D90H	D	-	1	0	RMND1	151808372	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.152000	0.10159	0.270000	0.21984	0.563000	0.77884	GAT		PASS	0.393	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	NM_017909		7	322	7	322	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152690680	152690680	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr6:152690680C>T	ENST00000367255.5	-	60	10178	c.9577G>A	c.(9577-9579)Gag>Aag	p.E3193K	SYNE1_ENST00000265368.4_Missense_Mutation_p.E3193K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E3200K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E3200K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3232K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3193					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.E3193K(2)|p.E3200K(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)		ACCATCTTCTCAGTTTTACTC	0.502										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.(9577-9579)GAG>AAG		spectrin repeat containing, nuclear envelope 1							135.0	119.0	124.0					6																	152690680		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.chr6:152690680C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.9577G>A	6.37:g.152690680C>T	ENSP00000356224:p.Glu3193Lys	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.E3200K|SYNE1_uc003qou.3_Missense_Mutation_p.E3193K|SYNE1_uc010kja.1_5'UTR|SYNE1_uc003qov.2_Missense_Mutation_p.E271K	p.E3193K	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	60	10179	-		Ovarian(120;0.0955)	3193			Spectrin 6.|Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.9577G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997234	0.35226	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.65	4.77	0.60923	.	0.093636	0.46145	N	0.000313	T	0.25082	0.0609	L	0.36672	1.1	0.80722	D	1	P;B;P;P	0.39424	0.673;0.329;0.673;0.622	B;B;B;B	0.42522	0.39;0.246;0.39;0.27	T	0.05084	-1.0907	10	0.23302	T	0.38	.	11.2486	0.49013	0.0:0.8031:0.1272:0.0696	.	3193;310;3193;3200	Q8NF91;B7ZBC4;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.;.	K	3193;3200;3193;3200;3232	ENSP00000356224:E3193K;ENSP00000396024:E3200K;ENSP00000265368:E3193K;ENSP00000390975:E3200K;ENSP00000341887:E3232K	ENSP00000265368:E3193K	E	-	1	0	SYNE1	152732373	1.000000	0.71417	0.850000	0.33497	0.096000	0.18686	4.618000	0.61211	1.364000	0.46038	0.643000	0.83706	GAG		PASS	0.502	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		14	50	14	50	---	---	---	---
SCAF8	22828	broad.mit.edu	37	6	155152162	155152162	+	Silent	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr6:155152162C>A	ENST00000367178.3	+	19	2823	c.2247C>A	c.(2245-2247)tcC>tcA	p.S749S	SCAF8_ENST00000417268.1_Silent_p.S749S|TIAM2_ENST00000461783.3_5'Flank|SCAF8_ENST00000367186.4_Silent_p.S815S	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	749	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.S749S(2)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTGCTACTTCCGCTCTGCCAG	0.448																																						uc003qqa.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)		0						c.(2245-2247)TCC>TCA		RNA-binding motif protein 16							78.0	78.0	78.0					6																	155152162		2203	4300	6503	SO:0001819	synonymous_variant	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155152162C>A	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.2247C>A	6.37:g.155152162C>A						TIAM2_uc003qqb.2_5'Flank|RBM16_uc011efj.1_Silent_p.S815S|RBM16_uc011efk.1_Silent_p.S794S|RBM16_uc003qpz.2_Silent_p.S749S|RBM16_uc010kji.2_Silent_p.S770S	p.S749S	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)	20	2479	+		Ovarian(120;0.196)	749			Pro-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	ENST00000367178.3	37	c.2247C>A	CCDS5247.1																																																																																				PASS	0.448	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		3	76	3	76	---	---	---	---
PDE10A	10846	broad.mit.edu	37	6	165809938	165809938	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr6:165809938C>T	ENST00000366882.1	-	15	1413	c.1259G>A	c.(1258-1260)aGa>aAa	p.R420K	PDE10A_ENST00000539869.2_Missense_Mutation_p.R430K|PDE10A_ENST00000354448.4_Missense_Mutation_p.R420K			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	420					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.R420K(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GTGGCGAATTCTATGATACAT	0.373																																					Esophageal Squamous(22;308 615 5753 12038 40624)	uc003qun.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1258-1260)AGA>AAA		phosphodiesterase 10A isoform 2	Dipyridamole(DB00975)						145.0	127.0	133.0					6																	165809938		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165809938C>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1259G>A	6.37:g.165809938C>T	ENSP00000355847:p.Arg420Lys					PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.R350K|PDE10A_uc003quo.2_Missense_Mutation_p.R430K	p.R420K	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	15	1500	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	420					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1259G>A		.	.	.	.	.	.	.	.	.	.	C	10.63	1.403901	0.25291	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.67865	-0.29;-0.29	5.34	5.34	0.76211	GAF (1);	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	N	0.16656	0.425	0.53688	D	0.999977	P;B	0.52842	0.956;0.023	D;B	0.65010	0.931;0.014	T	0.54166	-0.8334	10	0.02654	T	1	.	19.0469	0.93025	0.0:1.0:0.0:0.0	.	430;420	Q9ULW9;Q9Y233	.;PDE10_HUMAN	K	420;448;430;420;419	ENSP00000355847:R420K;ENSP00000346435:R420K	ENSP00000341187:R430K	R	-	2	0	PDE10A	165729928	1.000000	0.71417	0.006000	0.13384	0.661000	0.39034	7.463000	0.80869	2.508000	0.84585	0.650000	0.86243	AGA		PASS	0.373	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			9	80	9	80	---	---	---	---
CHN2	1124	broad.mit.edu	37	7	29552201	29552201	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr7:29552201C>A	ENST00000222792.6	+	13	1787	c.1257C>A	c.(1255-1257)gaC>gaA	p.D419E	CHN2_ENST00000424025.2_Missense_Mutation_p.D238E|CHN2_ENST00000546235.1_Missense_Mutation_p.D404E|CHN2_ENST00000539389.1_Missense_Mutation_p.D275E|CHN2_ENST00000439711.2_Missense_Mutation_p.D237E|CHN2_ENST00000435288.2_Missense_Mutation_p.D143E|CHN2_ENST00000495789.2_Missense_Mutation_p.D432E|AC007255.8_ENST00000447171.1_RNA|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000539406.1_Missense_Mutation_p.D494E|AC007255.8_ENST00000450540.2_RNA|CHN2_ENST00000409041.4_Missense_Mutation_p.D283E|CHN2_ENST00000421775.2_Missense_Mutation_p.D225E	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	419	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.D419E(2)|p.D283E(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						ATGAAAAAGACAATTTCATGA	0.428																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.2																			3	Substitution - Missense(3)		lung(2)|large_intestine(1)	ovary(2)	2						c.(1255-1257)GAC>GAA		beta chimerin isoform 2							83.0	86.0	85.0					7																	29552201		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29552201C>A	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.1257C>A	7.37:g.29552201C>A	ENSP00000222792:p.Asp419Glu					CHN2_uc011jzs.1_Missense_Mutation_p.D494E|CHN2_uc010kva.2_3'UTR|CHN2_uc010kvb.2_RNA|CHN2_uc010kvc.2_Missense_Mutation_p.D384E|CHN2_uc011jzt.1_Missense_Mutation_p.D432E|CHN2_uc010kvd.2_Missense_Mutation_p.D275E|CHN2_uc011jzu.1_Missense_Mutation_p.D404E|CHN2_uc010kvg.2_Missense_Mutation_p.D237E|CHN2_uc010kvh.2_Missense_Mutation_p.D179E|CHN2_uc010kvi.2_Missense_Mutation_p.D211E|CHN2_uc010kve.2_3'UTR|CHN2_uc003taa.2_Missense_Mutation_p.D283E|CHN2_uc010kvf.2_Missense_Mutation_p.D225E|CHN2_uc010kvj.2_Missense_Mutation_p.D192E|CHN2_uc010kvk.2_Missense_Mutation_p.D94E|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.D238E|CHN2_uc011jzv.1_Missense_Mutation_p.D212E	p.D419E	NM_004067	NP_004058	P52757	CHIO_HUMAN			13	1694	+			419			Rho-GAP.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.1257C>A	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	C	3.484	-0.105226	0.06967	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000435288;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000409041;ENST00000424025;ENST00000439711;ENST00000421775	T;T;T;T;T;T;T;T;T;T	0.20332	2.29;2.29;2.08;2.29;2.29;2.29;2.29;2.29;2.29;2.29	5.41	1.14	0.20703	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.250957	0.45867	D	0.000331	T	0.05227	0.0139	N	0.01771	-0.73	0.41896	D	0.990391	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.11235	0.0;0.0;0.002;0.004;0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.11329	0.0;0.001;0.004;0.006;0.0;0.006;0.0;0.001;0.001;0.001;0.0;0.003;0.001;0.003	T	0.38499	-0.9658	10	0.02654	T	1	.	5.6351	0.17532	0.0:0.3815:0.1983:0.4202	.	212;404;432;494;238;192;211;179;237;225;275;419;283;419	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF4;B3VCF7;B3VCF3;B3VCG1;A4D1A2;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	E	494;419;143;432;275;404;283;238;237;225	ENSP00000444063:D494E;ENSP00000222792:D419E;ENSP00000400282:D143E;ENSP00000438587:D432E;ENSP00000440526:D275E;ENSP00000442812:D404E;ENSP00000386849:D283E;ENSP00000406337:D238E;ENSP00000387425:D237E;ENSP00000394284:D225E	ENSP00000222792:D419E	D	+	3	2	CHN2	29518726	0.980000	0.34600	1.000000	0.80357	0.809000	0.45718	0.198000	0.17217	0.358000	0.24211	-0.808000	0.03180	GAC		PASS	0.428	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		4	61	4	61	---	---	---	---
AMPH	273	broad.mit.edu	37	7	38502604	38502604	+	Missense_Mutation	SNP	C	C	T	rs368302578		TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr7:38502604C>T	ENST00000356264.2	-	10	1074	c.859G>A	c.(859-861)Gca>Aca	p.A287T	AMPH_ENST00000428293.2_Missense_Mutation_p.A287T|AMPH_ENST00000325590.5_Missense_Mutation_p.A287T	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	287					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.A287T(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						CGTGCTGGTGCGGGAGACGCA	0.547																																						uc003tgu.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|liver(1)|skin(1)	5						c.(859-861)GCA>ACA		amphiphysin isoform 1		C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	160.0	150.0	153.0		859,859	5.3	1.0	7		153	0,8600		0,0,4300	no	missense,missense	AMPH	NM_001635.3,NM_139316.2	58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	287/696,287/654	38502604	1,13005	2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38502604C>T		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.859G>A	7.37:g.38502604C>T	ENSP00000348602:p.Ala287Thr					AMPH_uc003tgv.2_Missense_Mutation_p.A287T|AMPH_uc003tgt.2_Missense_Mutation_p.A40T	p.A287T	NM_001635	NP_001626	P49418	AMPH_HUMAN			10	928	-			287					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.859G>A	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.4|22.4	4.284931|4.284931	0.80803|0.80803	2.27E-4|2.27E-4	0.0|0.0	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070|ENST00000441628	T;T;T|.	0.41400|.	1.0;1.0;1.0|.	6.17|6.17	5.3|5.3	0.74995|0.74995	.|.	0.051594|.	0.85682|.	D|.	0.000000|.	T|T	0.69015|0.69015	0.3064|0.3064	L|L	0.54323|0.54323	1.7|1.7	0.50313|0.50313	D|D	0.999864|0.999864	D;D;P|.	0.89917|.	1.0;1.0;0.887|.	D;D;B|.	0.65684|.	0.937;0.91;0.116|.	T|T	0.67405|0.67405	-0.5679|-0.5679	10|5	0.23891|.	T|.	0.37|.	-16.4707|-16.4707	15.5723|15.5723	0.76349|0.76349	0.0:0.9345:0.0:0.0655|0.0:0.9345:0.0:0.0655	.|.	287;287;43|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	T|H	287;287;287;57;290|37	ENSP00000317441:A287T;ENSP00000348602:A287T;ENSP00000390734:A287T|.	ENSP00000317441:A287T|.	A|R	-|-	1|2	0|0	AMPH|AMPH	38469129|38469129	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.591000|0.591000	0.36615|0.36615	6.321000|6.321000	0.72881|0.72881	1.632000|1.632000	0.50472|0.50472	0.655000|0.655000	0.94253|0.94253	GCA|CGC		PASS	0.547	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		14	103	14	103	---	---	---	---
WBSCR17	64409	broad.mit.edu	37	7	71175772	71175772	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr7:71175772C>A	ENST00000333538.5	+	10	2161	c.1527C>A	c.(1525-1527)ttC>ttA	p.F509L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	509	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.F509L(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGGAAGGCTTCCTGCACTTGG	0.632																																						uc003tvy.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(1525-1527)TTC>TTA		UDP-GalNAc:polypeptide							97.0	89.0	91.0					7																	71175772		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71175772C>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1527C>A	7.37:g.71175772C>A	ENSP00000329654:p.Phe509Leu					WBSCR17_uc003tvz.2_Missense_Mutation_p.F208L	p.F509L	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			10	1527	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	509			Ricin B-type lectin.|Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1527C>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	C	3.969	-0.008850	0.07727	.	.	ENSG00000185274	ENST00000333538	T	0.25414	1.8	5.18	2.22	0.28083	Ricin B-related lectin (1);Ricin B lectin (3);	0.260142	0.39083	N	0.001464	T	0.07593	0.0191	N	0.00483	-1.445	0.33826	D	0.629612	B	0.02656	0.0	B	0.04013	0.001	T	0.11421	-1.0588	10	0.39692	T	0.17	.	11.3197	0.49415	0.0:0.7582:0.0:0.2418	.	509	Q6IS24	GLTL3_HUMAN	L	509	ENSP00000329654:F509L	ENSP00000329654:F509L	F	+	3	2	WBSCR17	70813708	0.860000	0.29831	0.998000	0.56505	0.984000	0.73092	0.066000	0.14489	0.031000	0.15407	-0.797000	0.03246	TTC		PASS	0.632	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479		22	102	22	102	---	---	---	---
C7orf62	219557	broad.mit.edu	37	7	88423766	88423766	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr7:88423766G>A	ENST00000297203.2	-	2	676	c.491C>T	c.(490-492)tCa>tTa	p.S164L	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	164								p.S164L(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TAGGGACTGTGACTGTGTCAC	0.398																																						uc003ujv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(490-492)TCA>TTA		hypothetical protein LOC219557							164.0	139.0	147.0					7																	88423766		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88423766G>A	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.491C>T	7.37:g.88423766G>A	ENSP00000297203:p.Ser164Leu					ZNF804B_uc011khi.1_Intron	p.S164L	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	STAD - Stomach adenocarcinoma(171;0.229)		2	673	-	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		164						Missense_Mutation	SNP	ENST00000297203.2	37	c.491C>T	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.944582	0.73672	.	.	ENSG00000164645	ENST00000297203	T	0.15487	2.42	6.16	6.16	0.99307	.	0.557818	0.18700	N	0.133592	T	0.33265	0.0857	L	0.56769	1.78	0.37404	D	0.91294	D	0.58620	0.983	P	0.54544	0.755	T	0.03761	-1.1006	10	0.59425	D	0.04	-28.8267	16.3599	0.83257	0.0:0.0:1.0:0.0	.	164	Q8TBZ9	CG062_HUMAN	L	164	ENSP00000297203:S164L	ENSP00000297203:S164L	S	-	2	0	C7orf62	88261702	0.999000	0.42202	0.822000	0.32727	0.747000	0.42532	5.204000	0.65180	2.937000	0.99478	0.650000	0.86243	TCA		PASS	0.398	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		19	98	19	98	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91631106	91631106	+	Silent	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr7:91631106G>C	ENST00000359028.2	+	9	2136	c.1911G>C	c.(1909-1911)ctG>ctC	p.L637L	AKAP9_ENST00000356239.3_Silent_p.L625L|AKAP9_ENST00000358100.2_Silent_p.L637L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	637	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.L637L(1)|p.L625L(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAGAGAGGCTGAGAACACAGC	0.308			T	BRAF	papillary thyroid																																	uc003ulg.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		2	Substitution - coding silent(2)		lung(2)	breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(1873-1875)CTG>CTC		A-kinase anchor protein 9 isoform 2							50.0	54.0	53.0					7																	91631106		2201	4300	6501	SO:0001819	synonymous_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91631106G>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.1911G>C	7.37:g.91631106G>C						AKAP9_uc003ule.2_Silent_p.L637L|AKAP9_uc003ulf.2_Silent_p.L625L|AKAP9_uc003uli.2_Silent_p.L250L	p.L625L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		8	2100	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		637			Glu-rich.|Potential.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Silent	SNP	ENST00000359028.2	37	c.1875G>C																																																																																					PASS	0.308	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		7	60	7	60	---	---	---	---
ARPC1A	10552	broad.mit.edu	37	7	98951667	98951667	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr7:98951667C>G	ENST00000262942.5	+	6	760	c.636C>G	c.(634-636)ttC>ttG	p.F212L	ARPC1A_ENST00000471960.1_3'UTR|ARPC1A_ENST00000432884.2_Missense_Mutation_p.F165L	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	212					actin cytoskeleton organization (GO:0030036)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of actin filament polymerization (GO:0030833)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	actin binding (GO:0003779)	p.F212L(2)		endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			GGGTAAGCTTCTCTGCCAGTG	0.592																																						uc003upx.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(634-636)TTC>TTG		actin related protein 2/3 complex subunit 1A							61.0	64.0	63.0					7																	98951667		2203	4300	6503	SO:0001583	missense	10552				actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding	g.chr7:98951667C>G	Y08999	CCDS5660.1	7q22.1	2013-03-14	2002-08-29		ENSG00000241685	ENSG00000241685		"""Actin related protein 2/3 complex subunits"", ""WD repeat domain containing"""	703	protein-coding gene	gene with protein product	"""actin binding protein (Schizosaccharomyces pombe sop2-like)"", ""SOP2-like protein"""	604220	"""actin related protein 2/3 complex, subunit 1A (41 kD)"""			8978670, 9230079	Standard	NM_006409		Approved	SOP2Hs, SOP2L, Arc40	uc003upx.2	Q92747	OTTHUMG00000154553	ENST00000262942.5:c.636C>G	7.37:g.98951667C>G	ENSP00000262942:p.Phe212Leu					ARPC1A_uc010lfu.1_RNA|ARPC1A_uc003upy.1_Missense_Mutation_p.F198L|ARPC1A_uc011kit.1_RNA	p.F212L	NM_006409	NP_006400	Q92747	ARC1A_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		6	783	+	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		212			WD 4.		A4D276|B4DLQ7|D6W5S1|Q7Z5U8|Q86WU5|Q8IXQ0	Missense_Mutation	SNP	ENST00000262942.5	37	c.636C>G	CCDS5660.1	.	.	.	.	.	.	.	.	.	.	c	23.1	4.377795	0.82682	.	.	ENSG00000241685	ENST00000432884;ENST00000262942	T;T	0.69685	-0.42;-0.42	5.05	3.25	0.37280	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78984	0.4370	M	0.91090	3.175	0.80722	D	1	D;B	0.54207	0.965;0.329	P;B	0.52823	0.71;0.061	T	0.81739	-0.0795	10	0.87932	D	0	.	10.6637	0.45717	0.0:0.7834:0.0:0.2166	.	207;212	Q53GB6;Q92747	.;ARC1A_HUMAN	L	165;212	ENSP00000408578:F165L;ENSP00000262942:F212L	ENSP00000262942:F212L	F	+	3	2	ARPC1A	98789603	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.699000	0.25586	0.659000	0.30945	0.555000	0.69702	TTC		PASS	0.592	ARPC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335908.1	NM_006409		35	138	35	138	---	---	---	---
PILRA	29992	broad.mit.edu	37	7	99971947	99971947	+	Silent	SNP	G	G	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr7:99971947G>T	ENST00000198536.2	+	2	557	c.345G>T	c.(343-345)ctG>ctT	p.L115L	PILRA_ENST00000394000.2_Silent_p.L115L|PILRA_ENST00000474013.1_3'UTR|PILRA_ENST00000350573.2_Silent_p.L115L|PILRA_ENST00000453419.1_Silent_p.L115L	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	115	Ig-like V-type.				signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L115L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTCCAACCTGCAGAAGCAGG	0.557																																						uc003uuo.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(343-345)CTG>CTT		paired immunoglobulin-like type 2 receptor alpha							105.0	106.0	106.0					7																	99971947		2203	4300	6503	SO:0001819	synonymous_variant	29992				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr7:99971947G>T	AF161080	CCDS5691.1, CCDS5692.1, CCDS47660.1	7q22.1	2013-01-11			ENSG00000085514	ENSG00000085514		"""Immunoglobulin superfamily / V-set domain containing"""	20396	protein-coding gene	gene with protein product		605341				10660620	Standard	NM_178272		Approved	FDF03	uc003uuo.1	Q9UKJ1	OTTHUMG00000155248	ENST00000198536.2:c.345G>T	7.37:g.99971947G>T						PILRA_uc011kjn.1_Silent_p.L115L|PILRA_uc011kjo.1_Silent_p.L115L|PILRA_uc003uup.1_Silent_p.L115L|PILRA_uc003uuq.1_Silent_p.L115L	p.L115L	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN			2	557	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		115			Extracellular (Potential).|Ig-like V-type.		Q8NHI1	Silent	SNP	ENST00000198536.2	37	c.345G>T	CCDS5691.1																																																																																				PASS	0.557	PILRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339016.1	NM_013439		10	249	10	249	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103124174	103124174	+	Silent	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr7:103124174G>A	ENST00000428762.1	-	62	10266	c.10107C>T	c.(10105-10107)atC>atT	p.I3369I	RN7SKP86_ENST00000410454.1_RNA|RELN_ENST00000473945.1_5'UTR|RELN_ENST00000343529.5_Silent_p.I3369I|RELN_ENST00000424685.2_Silent_p.I3369I|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3369					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.I3369I(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CATGCCAGGTGATCCCGTTGT	0.562																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(10105-10107)ATC>ATT		reelin isoform a							255.0	212.0	226.0					7																	103124174		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103124174G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.10107C>T	7.37:g.103124174G>A						RELN_uc010liz.2_Silent_p.I3369I	p.I3369I	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	62	10267	-			3369			BNR 16.		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.10107C>T	CCDS47680.1																																																																																				PASS	0.562	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		62	123	62	123	---	---	---	---
SND1	27044	broad.mit.edu	37	7	127528043	127528043	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr7:127528043G>C	ENST00000354725.3	+	13	1626	c.1432G>C	c.(1432-1434)Gaa>Caa	p.E478Q		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	478	TNase-like 3. {ECO:0000255|PROSITE- ProRule:PRU00272}.				gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)	p.E478Q(1)		central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						ACACTACGATGAACTGCTTGC	0.468																																						uc003vmi.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1432-1434)GAA>CAA		staphylococcal nuclease domain containing 1							104.0	78.0	87.0					7																	127528043		2203	4300	6503	SO:0001583	missense	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127528043G>C		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1432G>C	7.37:g.127528043G>C	ENSP00000346762:p.Glu478Gln					SND1_uc010lle.2_Missense_Mutation_p.E131Q	p.E478Q	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN			13	1658	+			478			TNase-like 3.		Q13122|Q96AG0	Missense_Mutation	SNP	ENST00000354725.3	37	c.1432G>C	CCDS34747.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.265134	0.59431	.	.	ENSG00000197157	ENST00000354725;ENST00000438400;ENST00000486037	T;T	0.31769	1.48;1.48	5.1	5.1	0.69264	Staphylococcal nuclease (SNase-like) (4);Staphylococcal nuclease (SNase-like), OB-fold (1);	0.000000	0.85682	D	0.000000	T	0.30166	0.0756	L	0.56340	1.77	0.80722	D	1	B	0.31383	0.321	B	0.30716	0.119	T	0.05419	-1.0886	10	0.18276	T	0.48	-22.2976	16.3843	0.83500	0.0:0.0:1.0:0.0	.	478	Q7KZF4	SND1_HUMAN	Q	478;468;27	ENSP00000346762:E478Q;ENSP00000419327:E27Q	ENSP00000346762:E478Q	E	+	1	0	SND1	127315279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.514000	0.90545	2.537000	0.85549	0.655000	0.94253	GAA		PASS	0.468	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		3	32	3	32	---	---	---	---
LPL	4023	broad.mit.edu	37	8	19797007	19797007	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr8:19797007C>A	ENST00000311322.8	+	1	526	c.56C>A	c.(55-57)aCc>aAc	p.T19N	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	19					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)	p.T19N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	CAGAGTCTGACCGCCTCCCGC	0.692																																						uc003wzk.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(55-57)ACC>AAC		lipoprotein lipase precursor	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						12.0	14.0	13.0					8																	19797007		2167	4235	6402	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19797007C>A		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.56C>A	8.37:g.19797007C>A	ENSP00000309757:p.Thr19Asn						p.T19N	NM_000237	NP_000228	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	1	426	+			19					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.56C>A	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653772	0.47362	.	.	ENSG00000175445	ENST00000524029;ENST00000522701;ENST00000311322	T;T;D	0.87729	-1.31;-1.08;-2.29	5.09	3.3	0.37823	.	32.901300	0.00166	N	0.000000	D	0.84588	0.5505	L	0.44542	1.39	0.23936	N	0.996413	P	0.36249	0.545	B	0.37650	0.255	T	0.70128	-0.4957	8	.	.	.	-1.5877	7.4664	0.27324	0.0:0.8016:0.0:0.1984	.	19	P06858	LIPL_HUMAN	N	19	ENSP00000428237:T19N;ENSP00000428557:T19N;ENSP00000309757:T19N	.	T	+	2	0	LPL	19841287	0.236000	0.23804	0.940000	0.37924	0.988000	0.76386	0.700000	0.25601	0.546000	0.28920	0.650000	0.86243	ACC		PASS	0.692	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			3	17	3	17	---	---	---	---
KCTD9	54793	broad.mit.edu	37	8	25293004	25293004	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr8:25293004G>C	ENST00000221200.4	-	9	908	c.688C>G	c.(688-690)Ctt>Gtt	p.L230V		NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	230					protein homooligomerization (GO:0051260)			p.L230V(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		AAACGAGAAAGATCAGCACCA	0.358																																						uc003xeo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(688-690)CTT>GTT		potassium channel tetramerisation domain							72.0	70.0	70.0					8																	25293004		2203	4300	6503	SO:0001583	missense	54793					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:25293004G>C	BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"""BTB/POZ domain containing"""	22401	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 9"""			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.688C>G	8.37:g.25293004G>C	ENSP00000221200:p.Leu230Val					PPP2R2A_uc003xek.2_Intron|KCTD9_uc011lad.1_5'Flank	p.L230V	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	9	846	-		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	230					Q6NUM8|Q9NXV4	Missense_Mutation	SNP	ENST00000221200.4	37	c.688C>G	CCDS6048.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401919	0.83120	.	.	ENSG00000104756	ENST00000221200	T	0.55760	0.5	5.54	5.54	0.83059	.	0.000000	0.64402	U	0.000008	D	0.82384	0.5025	H	0.96547	3.84	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	D	0.87364	0.2346	10	0.87932	D	0	.	19.8472	0.96713	0.0:0.0:1.0:0.0	.	230	Q7L273	KCTD9_HUMAN	V	230	ENSP00000221200:L230V	ENSP00000221200:L230V	L	-	1	0	KCTD9	25348921	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.308000	0.72820	2.768000	0.95171	0.650000	0.86243	CTT		PASS	0.358	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634		6	19	6	19	---	---	---	---
GPR124	25960	broad.mit.edu	37	8	37672477	37672477	+	Silent	SNP	G	G	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr8:37672477G>T	ENST00000412232.2	+	2	343	c.330G>T	c.(328-330)ctG>ctT	p.L110L	GPR124_ENST00000315215.7_Silent_p.L110L	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	110					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.L103L(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)			TGTCACTGCTGGAGAAGCTGT	0.602																																						uc003xkj.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|skin(1)	5						c.(328-330)CTG>CTT		G protein-coupled receptor 124 precursor							106.0	98.0	101.0					8																	37672477		2203	4300	6503	SO:0001819	synonymous_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.chr8:37672477G>T	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.330G>T	8.37:g.37672477G>T						GPR124_uc003xki.2_Silent_p.L110L|GPR124_uc010lvy.2_Silent_p.L110L	p.L110L	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		2	693	+			110			Extracellular (Potential).|LRR 2.		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Silent	SNP	ENST00000412232.2	37	c.330G>T	CCDS6097.2																																																																																				PASS	0.602	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			5	299	5	299	---	---	---	---
HOOK3	84376	broad.mit.edu	37	8	42821647	42821647	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr8:42821647C>T	ENST00000307602.4	+	10	1011	c.811C>T	c.(811-813)Cgt>Tgt	p.R271C		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	271					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)	p.R271C(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TTATCGAATACGTTGTGAAGA	0.398			T	RET	papillary thyroid																																	uc003xpr.2				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(811-813)CGT>TGT		golgi-associated microtubule-binding protein							155.0	149.0	151.0					8																	42821647		2203	4300	6503	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42821647C>T	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.811C>T	8.37:g.42821647C>T	ENSP00000305699:p.Arg271Cys					HOOK3_uc010lxq.1_Missense_Mutation_p.R271C	p.R271C	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		10	1053	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	271			Potential.		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.811C>T	CCDS6139.1	.	.	.	.	.	.	.	.	.	.	C	32	5.172813	0.94807	.	.	ENSG00000168172	ENST00000307602	T	0.21031	2.03	5.68	5.68	0.88126	.	0.099296	0.64402	D	0.000001	T	0.47116	0.1428	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.80764	0.994;0.912	T	0.32929	-0.9888	10	0.72032	D	0.01	-6.4278	19.757	0.96298	0.0:1.0:0.0:0.0	.	271;271	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	C	271	ENSP00000305699:R271C	ENSP00000305699:R271C	R	+	1	0	HOOK3	42940804	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.838000	0.97847	0.655000	0.94253	CGT		PASS	0.398	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		43	63	43	63	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43157168	43157168	+	RNA	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr8:43157168C>G	ENST00000522175.2	+	0	697				RNU6-104P_ENST00000459597.1_RNA			Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.L250V(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						AGTTAGTCTTCTACTTCAGCA	0.328																																						uc003xpz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(748-750)CTA>GTA		POTE ankyrin domain family, member A isoform 2							101.0	108.0	106.0					8																	43157168		2135	4268	6403			340441							g.chr8:43157168C>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.43157168C>G						POTEA_uc003xqa.1_Intron	p.L250V	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			5	791	+			250			ANK 5.		A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.748C>G																																																																																					PASS	0.328	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		9	31	9	31	---	---	---	---
MCM4	4173	broad.mit.edu	37	8	48877253	48877253	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr8:48877253G>A	ENST00000262105.2	+	7	1022	c.813G>A	c.(811-813)atG>atA	p.M271I	MCM4_ENST00000523944.1_Missense_Mutation_p.M271I	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	271					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)	p.M271I(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CTAAGAATATGAGAAACCTGA	0.338																																						uc003xqk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(811-813)ATG>ATA		minichromosome maintenance complex component 4							77.0	74.0	75.0					8																	48877253		2203	4299	6502	SO:0001583	missense	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48877253G>A		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.813G>A	8.37:g.48877253G>A	ENSP00000262105:p.Met271Ile					MCM4_uc003xql.1_Missense_Mutation_p.M271I|MCM4_uc011ldi.1_Missense_Mutation_p.M258I|MCM4_uc010lxw.1_RNA	p.M271I	NM_182746	NP_877423	P33991	MCM4_HUMAN			8	908	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	271					Q8NEH1|Q99658	Missense_Mutation	SNP	ENST00000262105.2	37	c.813G>A	CCDS6143.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389328	0.61956	.	.	ENSG00000104738	ENST00000523944;ENST00000262105;ENST00000396826;ENST00000429229;ENST00000520637	T;T;T	0.08720	3.06;3.06;3.06	5.72	5.72	0.89469	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.036275	0.85682	D	0.000000	T	0.24699	0.0599	L	0.55103	1.725	0.80722	D	1	D;P	0.57571	0.98;0.946	P;P	0.61070	0.883;0.77	T	0.00045	-1.2217	10	0.72032	D	0.01	-33.4769	19.8663	0.96804	0.0:0.0:1.0:0.0	.	271;271	B3KMX0;P33991	.;MCM4_HUMAN	I	271;271;258;231;33	ENSP00000430194:M271I;ENSP00000262105:M271I;ENSP00000427875:M33I	ENSP00000262105:M271I	M	+	3	0	MCM4	49039806	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.277000	0.95755	2.700000	0.92200	0.591000	0.81541	ATG		PASS	0.338	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		13	45	13	45	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89180185	89180185	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr8:89180185G>C	ENST00000286614.6	-	4	703	c.422C>G	c.(421-423)cCa>cGa	p.P141R	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	141					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.P141R(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)	TCCTACTTTTGGAGTTACGTT	0.363																																						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.(421-423)CCA>CGA		matrix metalloproteinase 16 isoform 1							99.0	91.0	94.0					8																	89180185		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.chr8:89180185G>C	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.422C>G	8.37:g.89180185G>C	ENSP00000286614:p.Pro141Arg					MMP16_uc003yec.2_Missense_Mutation_p.P141R	p.P141R	NM_005941	NP_005932	P51512	MMP16_HUMAN			4	704	-			141			Extracellular (Potential).		B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.422C>G	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.924449	0.92319	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.55760	0.5;2.53	6.16	6.16	0.99307	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74779	0.3761	M	0.75884	2.315	0.80722	D	1	D;D	0.89917	1.0;0.977	D;P	0.97110	1.0;0.895	T	0.71735	-0.4503	10	0.46703	T	0.11	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	141;141	P51512-2;P51512	.;MMP16_HUMAN	R	141;158	ENSP00000286614:P141R;ENSP00000429147:P158R	ENSP00000286614:P141R	P	-	2	0	MMP16	89249301	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	9.785000	0.99042	2.937000	0.99478	0.650000	0.86243	CCA		PASS	0.363	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		14	44	14	44	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113697958	113697958	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr8:113697958G>A	ENST00000297405.5	-	15	2403	c.2159C>T	c.(2158-2160)cCc>cTc	p.P720L	CSMD3_ENST00000352409.3_Missense_Mutation_p.P720L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P680L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P616L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	720						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P720L(1)|p.P680L(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						AGACAGGCAGGGAACTGGTGA	0.318										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.(2158-2160)CCC>CTC		CUB and Sushi multiple domains 3 isoform 1							58.0	63.0	61.0					8																	113697958		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697958G>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.2159C>T	8.37:g.113697958G>A	ENSP00000297405:p.Pro720Leu	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Missense_Mutation_p.P680L|CSMD3_uc011lhx.1_Missense_Mutation_p.P616L	p.P720L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			15	2318	-			720			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2159C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205585	0.79127	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0	5.72	5.72	0.89469	CUB (1);Complement control module (2);	0.000000	0.64402	D	0.000002	T	0.41789	0.1174	L	0.45744	1.44	0.80722	D	1	D;D;B	0.89917	0.995;1.0;0.296	D;D;B	0.91635	0.991;0.999;0.132	T	0.02009	-1.1230	10	0.27785	T	0.31	.	19.8753	0.96867	0.0:0.0:1.0:0.0	.	616;720;680	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	680;720;60;616;720	ENSP00000345799:P680L;ENSP00000297405:P720L;ENSP00000341558:P60L;ENSP00000412263:P616L;ENSP00000343124:P720L	ENSP00000297405:P720L	P	-	2	0	CSMD3	113767134	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.869000	0.99810	2.711000	0.92665	0.655000	0.94253	CCC		PASS	0.318	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		13	54	13	54	---	---	---	---
RHPN1	114822	broad.mit.edu	37	8	144459598	144459598	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr8:144459598G>C	ENST00000289013.6	+	4	455	c.354G>C	c.(352-354)aaG>aaC	p.K118N		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	118	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)	p.K118N(2)		endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			AGGAGACCAAGGAGCTGGACT	0.592																																						uc003yyb.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(352-354)AAG>AAC		rhophilin 1							78.0	85.0	83.0					8																	144459598		2032	4195	6227	SO:0001583	missense	114822				signal transduction	intracellular		g.chr8:144459598G>C	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.354G>C	8.37:g.144459598G>C	ENSP00000289013:p.Lys118Asn						p.K118N	NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		4	487	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		118			BRO1.		Q8TAV1|Q96PV9	Missense_Mutation	SNP	ENST00000289013.6	37	c.354G>C	CCDS47927.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689184	0.68271	.	.	ENSG00000158106	ENST00000289013	T	0.19938	2.11	4.22	2.01	0.26516	.	0.053328	0.64402	D	0.000001	T	0.26231	0.0640	L	0.41906	1.305	0.49130	D	0.999754	D	0.63880	0.993	P	0.59487	0.858	T	0.01899	-1.1251	10	0.42905	T	0.14	-36.1601	6.1195	0.20146	0.4209:0.0:0.579:0.0	.	118	Q8TCX5-2	.	N	118	ENSP00000289013:K118N	ENSP00000289013:K118N	K	+	3	2	RHPN1	144530741	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.449000	0.35123	0.748000	0.32831	0.313000	0.20887	AAG		PASS	0.592	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1			10	49	10	49	---	---	---	---
FOXD4	2298	broad.mit.edu	37	9	117745	117745	+	Silent	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr9:117745G>C	ENST00000382500.2	-	1	672	c.375C>G	c.(373-375)ctC>ctG	p.L125L		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	125					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L125L(2)		endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CGCTGAGCGTGAGGCGCTTGT	0.647																																						uc003zfz.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(373-375)CTC>CTG		forkhead box D4							64.0	95.0	84.0					9																	117745		2145	4240	6385	SO:0001819	synonymous_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117745G>C	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.375C>G	9.37:g.117745G>C							p.L125L	NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	673	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	125			Fork-head.		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Silent	SNP	ENST00000382500.2	37	c.375C>G	CCDS34975.1																																																																																				PASS	0.647	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		13	271	13	271	---	---	---	---
KIAA2026	158358	broad.mit.edu	37	9	5921511	5921511	+	Silent	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr9:5921511C>T	ENST00000399933.3	-	8	4484	c.4485G>A	c.(4483-4485)gcG>gcA	p.A1495A	KIAA2026_ENST00000381461.2_Silent_p.A1465A	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1495								p.A670A(2)|p.A1495A(2)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TAGATGTCAGCGCAGGTGTCA	0.413																																						uc003zjq.3																			4	Substitution - coding silent(4)		lung(2)|endometrium(2)	ovary(2)|central_nervous_system(1)	3						c.(4483-4485)GCG>GCA		hypothetical protein LOC158358							87.0	80.0	82.0					9																	5921511		1876	4116	5992	SO:0001819	synonymous_variant	158358							g.chr9:5921511C>T	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.4485G>A	9.37:g.5921511C>T						KIAA2026_uc010mht.2_Silent_p.A670A	p.A1495A	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	4701	-		Acute lymphoblastic leukemia(23;0.158)	1495					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.4485G>A																																																																																					PASS	0.413	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		10	23	10	23	---	---	---	---
ECM2	1842	broad.mit.edu	37	9	95264875	95264875	+	Silent	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr9:95264875G>C	ENST00000344604.5	-	8	1673	c.1524C>G	c.(1522-1524)acC>acG	p.T508T	ECM2_ENST00000444490.2_Silent_p.T486T|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	508					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.T486T(1)|p.T508T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TGATCTTTCTGGTATGATTGA	0.274																																						uc004ash.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1522-1524)ACC>ACG		extracellular matrix protein 2 precursor							124.0	123.0	123.0					9																	95264875		2202	4300	6502	SO:0001819	synonymous_variant	1842				cell-matrix adhesion		integrin binding	g.chr9:95264875G>C	AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.1524C>G	9.37:g.95264875G>C						CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Silent_p.T486T|ECM2_uc011lty.1_Silent_p.T508T|ECM2_uc004asg.2_Silent_p.T486T|ECM2_uc010mqz.1_Intron	p.T508T	NM_001393	NP_001384	O94769	ECM2_HUMAN			8	1589	-			508					B2R730|E2PU11|Q5T9F2|Q7Z3D0	Silent	SNP	ENST00000344604.5	37	c.1524C>G	CCDS6698.1																																																																																				PASS	0.274	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053091.1	NM_001393		4	20	4	20	---	---	---	---
GALNT12	79695	broad.mit.edu	37	9	101611252	101611252	+	Missense_Mutation	SNP	G	G	A	rs376894835		TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr9:101611252G>A	ENST00000375011.3	+	10	1624	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	RP11-92C4.3_ENST00000433997.1_RNA|RP11-92C4.3_ENST00000589257.1_RNA|GALNT12_ENST00000470473.1_3'UTR	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	542	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E542K(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				TTTATTTCACGAACAGTCCAA	0.423											OREG0019361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004ayz.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1624-1626)GAA>AAA		N-acetylgalactosaminyltransferase 12							111.0	94.0	100.0					9																	101611252		2203	4300	6503	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101611252G>A	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1624G>A	9.37:g.101611252G>A	ENSP00000364150:p.Glu542Lys		OREG0019361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360		p.E542K	NM_024642	NP_078918	Q8IXK2	GLT12_HUMAN			10	1624	+		Acute lymphoblastic leukemia(62;0.0559)	542			Ricin B-type lectin.|Lumenal (Potential).		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.1624G>A	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	G	4.691	0.128530	0.08981	.	.	ENSG00000119514	ENST00000375011	T	0.24908	1.83	5.74	-2.85	0.05734	Ricin B-related lectin (1);Ricin B lectin (3);	1.007730	0.07956	N	0.981653	T	0.04907	0.0132	N	0.00436	-1.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32824	-0.9892	10	0.05721	T	0.95	.	5.4456	0.16533	0.4367:0.2534:0.31:0.0	.	542	Q8IXK2	GLT12_HUMAN	K	542	ENSP00000364150:E542K	ENSP00000364150:E542K	E	+	1	0	GALNT12	100651073	0.000000	0.05858	0.001000	0.08648	0.971000	0.66376	-0.203000	0.09438	-0.955000	0.03636	-0.312000	0.09012	GAA		PASS	0.423	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		14	22	14	22	---	---	---	---
MAPKAP1	79109	broad.mit.edu	37	9	128419946	128419946	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr9:128419946G>C	ENST00000373498.1	-	3	550	c.482C>G	c.(481-483)tCc>tGc	p.S161C	MAPKAP1_ENST00000373503.3_5'UTR|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.S161C|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.S161C|MAPKAP1_ENST00000394063.1_5'UTR|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.S161C|MAPKAP1_ENST00000373497.5_5'UTR|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.S161C			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	161	Interaction with MAP3K2.|Interaction with NBN.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)	p.S161C(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						ATCAAATTTGGAATACTCGTT	0.378																																						uc004bpv.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)	4						c.(481-483)TCC>TGC		mitogen-activated protein kinase associated							105.0	103.0	103.0					9																	128419946		2203	4300	6503	SO:0001583	missense	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128419946G>C	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.482C>G	9.37:g.128419946G>C	ENSP00000362597:p.Ser161Cys					MAPKAP1_uc011lzv.1_5'UTR|MAPKAP1_uc004bpw.2_5'UTR|MAPKAP1_uc004bpx.2_5'UTR|MAPKAP1_uc004bpy.2_Missense_Mutation_p.S161C|MAPKAP1_uc004bpz.2_Missense_Mutation_p.S161C|MAPKAP1_uc010mxa.2_RNA|MAPKAP1_uc004bqa.2_Missense_Mutation_p.S161C|MAPKAP1_uc010mxc.1_5'UTR	p.S161C	NM_001006617	NP_001006618	Q9BPZ7	SIN1_HUMAN			4	815	-			161			Interaction with MAP3K2.		A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	c.482C>G	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165929	0.78339	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373498;ENST00000265960;ENST00000373505;ENST00000394060;ENST00000468896	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.77909	0.4201	M	0.62016	1.91	0.80722	D	1	D;B;B;P	0.89917	1.0;0.335;0.424;0.721	D;B;B;P	0.69479	0.964;0.2;0.183;0.449	T	0.76041	-0.3104	9	0.49607	T	0.09	-8.778	20.3206	0.98668	0.0:0.0:1.0:0.0	.	161;161;161;161	Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;SIN1_HUMAN	C	161;161;161;161;116;161;15	.	ENSP00000265960:S161C	S	-	2	0	MAPKAP1	127459767	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.441000	0.97557	2.809000	0.96659	0.655000	0.94253	TCC		PASS	0.378	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			10	43	10	43	---	---	---	---
PRDM12	59335	broad.mit.edu	37	9	133556880	133556880	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr9:133556880C>T	ENST00000253008.2	+	5	988	c.928C>T	c.(928-930)Cag>Tag	p.Q310*		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	310					neurogenesis (GO:0022008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.Q310*(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CGCCTACTCGCAGCTGGCCGG	0.751																																						uc004bzt.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(928-930)CAG>TAG		PR domain containing 12							5.0	6.0	5.0					9																	133556880		2074	4113	6187	SO:0001587	stop_gained	59335				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:133556880C>T	AY004252	CCDS6934.1	9q33-q34	2013-01-08			ENSG00000130711	ENSG00000130711		"""Zinc fingers, C2H2-type"""	13997	protein-coding gene	gene with protein product	"""PR-domain containing protein 12"", ""PR-domain zinc finger protein 12"""					14523459	Standard	NM_021619		Approved		uc004bzt.1	Q9H4Q4	OTTHUMG00000020808	ENST00000253008.2:c.928C>T	9.37:g.133556880C>T	ENSP00000253008:p.Gln310*						p.Q310*	NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000344)	5	988	+		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)	310			C2H2-type 3.		A3KFK9	Nonsense_Mutation	SNP	ENST00000253008.2	37	c.928C>T	CCDS6934.1	.	.	.	.	.	.	.	.	.	.	C	37	6.510570	0.97624	.	.	ENSG00000130711	ENST00000253008	.	.	.	4.27	4.27	0.50696	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-30.3743	15.6715	0.77279	0.0:1.0:0.0:0.0	.	.	.	.	X	310	.	ENSP00000253008:Q310X	Q	+	1	0	PRDM12	132546701	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.488000	0.81441	1.926000	0.55796	0.462000	0.41574	CAG		PASS	0.751	PRDM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054664.1	NM_021619		4	11	4	11	---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136671274	136671274	+	Silent	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr9:136671274C>T	ENST00000371850.3	-	9	796	c.765G>A	c.(763-765)ctG>ctA	p.L255L	VAV2_ENST00000406606.3_Silent_p.L250L|VAV2_ENST00000371851.1_Silent_p.L250L	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	255	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L255L(1)|p.L250L(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CGATGGCCCTCAGGAAGCTGT	0.627																																						uc004ces.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(763-765)CTG>CTA		vav 2 guanine nucleotide exchange factor isoform							80.0	52.0	61.0					9																	136671274		2201	4300	6501	SO:0001819	synonymous_variant	7410				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity	g.chr9:136671274C>T		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.765G>A	9.37:g.136671274C>T						VAV2_uc004cer.2_Silent_p.L250L	p.L255L	NM_001134398	NP_001127870	P52735	VAV2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)	9	811	-			255			DH.		A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	Silent	SNP	ENST00000371850.3	37	c.765G>A	CCDS48053.1																																																																																				PASS	0.627	VAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054939.1			6	20	6	20	---	---	---	---
COL5A1	1289	broad.mit.edu	37	9	137677895	137677895	+	Splice_Site	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr9:137677895G>C	ENST00000371817.3	+	31	3060		c.e31+1			NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1						axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.?(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGACCAAAGGTAACTTCTGG	0.592																																						uc004cfe.2																			1	Unknown(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1)	11						c.e31+1		alpha 1 type V collagen preproprotein							128.0	89.0	102.0					9																	137677895		2201	4297	6498	SO:0001630	splice_region_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137677895G>C	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2646+1G>C	9.37:g.137677895G>C							p.K882_splice	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	31	3028	+		Myeloproliferative disorder(178;0.0341)						Q15094|Q5SUX4	Splice_Site	SNP	ENST00000371817.3	37	c.2646_splice	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	g	14.75	2.628580	0.46944	.	.	ENSG00000130635	ENST00000371817	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8636	0.70399	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL5A1	136817716	1.000000	0.71417	0.998000	0.56505	0.337000	0.28794	8.428000	0.90278	1.775000	0.52247	0.461000	0.40582	.		PASS	0.592	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	Intron	5	17	5	17	---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	436246	436246	+	Silent	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr10:436246G>A	ENST00000280886.6	-	12	1539	c.1452C>T	c.(1450-1452)ttC>ttT	p.F484F	DIP2C_ENST00000381496.3_Silent_p.F377F	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	484						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.F484F(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TAATGTGTGGGAACCAGTCTC	0.488																																						uc001ifp.2																			1	Substitution - coding silent(1)		lung(1)	breast(4)|ovary(2)|large_intestine(1)	7						c.(1450-1452)TTC>TTT		DIP2 disco-interacting protein 2 homolog C							132.0	127.0	129.0					10																	436246		2203	4300	6503	SO:0001819	synonymous_variant	22982					nucleus	catalytic activity|transcription factor binding	g.chr10:436246G>A	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.1452C>T	10.37:g.436246G>A						DIP2C_uc009xhj.1_Silent_p.F180F	p.F484F	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	12	1542	-		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	484					B4DPI5|Q5SS78	Silent	SNP	ENST00000280886.6	37	c.1452C>T	CCDS7054.1																																																																																				PASS	0.488	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974		37	120	37	120	---	---	---	---
PITRM1	10531	broad.mit.edu	37	10	3202450	3202450	+	Silent	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr10:3202450G>A	ENST00000224949.4	-	8	898	c.864C>T	c.(862-864)ttC>ttT	p.F288F	PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000380994.1_5'Flank|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Silent_p.F288F|PITRM1_ENST00000451104.2_Silent_p.F256F			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	288					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.F288F(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						CAATTTTCTGGAATTTGCTCA	0.438																																						uc010qah.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(766-768)TTC>TTT		SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;							92.0	92.0	92.0					10																	3202450		1900	4135	6035	SO:0001819	synonymous_variant	10531				proteolysis		metalloendopeptidase activity|zinc ion binding	g.chr10:3202450G>A	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.864C>T	10.37:g.3202450G>A						PITRM1_uc001igr.1_Silent_p.F288F|PITRM1_uc001igt.1_Silent_p.F288F|PITRM1_uc009xhv.1_5'Flank|PITRM1_uc001igu.1_Silent_p.F280F|PITRM1_uc010qai.1_Silent_p.F259F|PITRM1_uc001igw.1_Silent_p.F288F	p.F256F			E7ES23	E7ES23_HUMAN			7	800	-			256					B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Silent	SNP	ENST00000224949.4	37	c.768C>T	CCDS59208.1																																																																																				PASS	0.438	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2			10	32	10	32	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15639281	15639281	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr10:15639281G>T	ENST00000378076.3	-	21	2489	c.2136C>A	c.(2134-2136)agC>agA	p.S712R	ITGA8_ENST00000477064.1_5'UTR	NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	712					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.S712R(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGTACTCACAGCTCAGTGGTC	0.488																																						uc001ioc.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)	6						c.(2134-2136)AGC>AGA		integrin, alpha 8 precursor							160.0	140.0	147.0					10																	15639281		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15639281G>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.2136C>A	10.37:g.15639281G>T	ENSP00000367316:p.Ser712Arg					ITGA8_uc010qcb.1_Missense_Mutation_p.S697R	p.S712R	NM_003638	NP_003629	P53708	ITA8_HUMAN			21	2136	-			712			Extracellular (Potential).		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.2136C>A	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152587	0.78001	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.48836	0.8	5.71	2.85	0.33270	Integrin alpha-2 (1);	0.084915	0.85682	D	0.000000	T	0.60340	0.2261	M	0.74647	2.275	0.43930	D	0.996582	D;D	0.56287	0.969;0.975	P;P	0.58577	0.754;0.841	T	0.58137	-0.7689	10	0.42905	T	0.14	.	10.4683	0.44622	0.212:0.0:0.788:0.0	.	697;712	F5H818;P53708	.;ITA8_HUMAN	R	712;697	ENSP00000367316:S712R	ENSP00000367316:S712R	S	-	3	2	ITGA8	15679287	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.518000	0.45537	0.337000	0.23665	0.655000	0.94253	AGC		PASS	0.488	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		22	69	22	69	---	---	---	---
EPC1	80314	broad.mit.edu	37	10	32581966	32581966	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr10:32581966C>T	ENST00000263062.8	-	4	885	c.616G>A	c.(616-618)Gat>Aat	p.D206N	EPC1_ENST00000375110.2_Missense_Mutation_p.D156N|EPC1_ENST00000319778.6_Missense_Mutation_p.D206N	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)	206					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)		p.D206N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				ACATAAGGATCATTTGTGCTG	0.308																																						uc001iwg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(616-618)GAT>AAT		enhancer of polycomb 1							66.0	67.0	66.0					10																	32581966		2202	4300	6502	SO:0001583	missense	80314				histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex		g.chr10:32581966C>T	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.616G>A	10.37:g.32581966C>T	ENSP00000263062:p.Asp206Asn					EPC1_uc001iwi.3_Missense_Mutation_p.D156N|EPC1_uc009xlt.2_Missense_Mutation_p.D156N|EPC1_uc001iwh.1_Missense_Mutation_p.D206N	p.D206N	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN			4	886	-		Prostate(175;0.0199)	206					B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	Missense_Mutation	SNP	ENST00000263062.8	37	c.616G>A	CCDS7172.1	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499640	0.64298	.	.	ENSG00000120616	ENST00000375110;ENST00000319778;ENST00000263062	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.74344	0.3704	L	0.48362	1.52	0.80722	D	1	P;D;D;P	0.89917	0.709;1.0;0.997;0.719	B;D;D;P	0.87578	0.338;0.998;0.988;0.573	T	0.64956	-0.6285	9	0.17369	T	0.5	-15.6248	20.6721	0.99693	0.0:1.0:0.0:0.0	.	206;156;206;206	B8XCX7;Q9H2F5-3;Q9H2F5-2;Q9H2F5	.;.;.;EPC1_HUMAN	N	156;206;206	.	ENSP00000263062:D206N	D	-	1	0	EPC1	32621972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.894000	0.99253	0.591000	0.81541	GAT		PASS	0.308	EPC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047484.1			7	35	7	35	---	---	---	---
SLC18A3	6572	broad.mit.edu	37	10	50819868	50819868	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr10:50819868C>T	ENST00000374115.3	+	1	1522	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V	CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395562.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	361					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)	p.A361V(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CTGTACGGCGCGCTTGGGCTG	0.682																																						uc001jhw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1081-1083)GCG>GTG		vesicular acetylcholine transporter							37.0	39.0	38.0					10																	50819868		2200	4297	6497	SO:0001583	missense	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819868C>T	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1082C>T	10.37:g.50819868C>T	ENSP00000363229:p.Ala361Val					CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	p.A361V	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	1522	+			361			Helical; (Potential).		B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	c.1082C>T	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948010	0.53186	.	.	ENSG00000187714	ENST00000374115	T	0.59364	0.27	5.16	5.16	0.70880	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	U	0.000001	T	0.75384	0.3842	M	0.76574	2.34	0.58432	D	0.999997	D	0.89917	1.0	D	0.71870	0.975	T	0.73883	-0.3842	10	0.33141	T	0.24	-8.8518	18.6285	0.91350	0.0:1.0:0.0:0.0	.	361	Q16572	VACHT_HUMAN	V	361	ENSP00000363229:A361V	ENSP00000363229:A361V	A	+	2	0	SLC18A3	50489874	1.000000	0.71417	0.577000	0.28562	0.213000	0.24496	5.895000	0.69814	2.412000	0.81896	0.561000	0.74099	GCG		PASS	0.682	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		18	85	18	85	---	---	---	---
SFTPA1	653509	broad.mit.edu	37	10	81371658	81371658	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr10:81371658G>T	ENST00000398636.3	+	3	215	c.77G>T	c.(76-78)tGt>tTt	p.C26F	SFTPA1_ENST00000419470.2_Missense_Mutation_p.C41F|SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000428376.2_Missense_Mutation_p.C26F|SFTPA1_ENST00000372308.3_Missense_Mutation_p.C26F	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	26					lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)	p.C41F(2)		endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AAGGACGTTTGTGTTGGAAGC	0.622																																						uc001kap.2																			2	Substitution - Missense(2)		lung(1)|prostate(1)		0						c.(76-78)TGT>TTT		surfactant protein A1 isoform 1							207.0	186.0	193.0					10																	81371658		2203	4296	6499	SO:0001583	missense	653509				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding	g.chr10:81371658G>T	BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"""Collectins"""	10798	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A1A"""	178630	"""surfactant, pulmonary-associated protein A1"""	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.77G>T	10.37:g.81371658G>T	ENSP00000381633:p.Cys26Phe					SFTPA1_uc001kao.2_RNA|SFTPA1_uc001kaq.2_Missense_Mutation_p.C26F|SFTPA1_uc009xry.2_Missense_Mutation_p.C41F|SFTPA1_uc001kar.2_Missense_Mutation_p.C26F|SFTPA1_uc010qlt.1_Intron|SFTPA1_uc009xrz.2_Missense_Mutation_p.C36F|SFTPA1_uc009xsa.2_Missense_Mutation_p.C26F|SFTPA1_uc009xsf.2_5'Flank	p.C26F	NM_005411	NP_005402	Q8IWL2	SFTA1_HUMAN	Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)		3	198	+	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		26					A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Missense_Mutation	SNP	ENST00000398636.3	37	c.77G>T	CCDS44445.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.051733	0.55218	.	.	ENSG00000122852	ENST00000372308;ENST00000398636;ENST00000428376;ENST00000419470;ENST00000394569;ENST00000429958;ENST00000439264	T;T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03;2.03	2.63	2.63	0.31362	.	0.000000	0.64402	D	0.000011	T	0.40297	0.1111	M	0.73319	2.225	0.27679	N	0.946517	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.06058	-1.0848	10	0.54805	T	0.06	-4.9517	8.9001	0.35490	0.0:0.0:1.0:0.0	.	41;26	G5E9J3;Q8IWL2	.;SFTA1_HUMAN	F	26;26;26;41;26;26;26	ENSP00000361382:C26F;ENSP00000381633:C26F;ENSP00000411102:C26F;ENSP00000397082:C41F;ENSP00000395527:C26F;ENSP00000401649:C26F	ENSP00000361382:C26F	C	+	2	0	SFTPA1	81041664	0.994000	0.37717	0.043000	0.18650	0.499000	0.33736	3.920000	0.56446	1.791000	0.52520	0.448000	0.29417	TGT		PASS	0.622	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411		4	257	4	257	---	---	---	---
MMS19	64210	broad.mit.edu	37	10	99221792	99221792	+	Silent	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr10:99221792G>A	ENST00000438925.2	-	21	2432	c.2097C>T	c.(2095-2097)agC>agT	p.S699S	MMS19_ENST00000370782.2_Silent_p.S699S|MMS19_ENST00000327277.7_Silent_p.S335S|MMS19_ENST00000327238.10_Silent_p.S601S|MMS19_ENST00000355839.6_Silent_p.S656S	NM_022362.4	NP_071757.4	Q96T76	MMS19_HUMAN	MMS19 nucleotide excision repair homolog (S. cerevisiae)	699					cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|iron-sulfur cluster assembly (GO:0016226)|nucleotide-excision repair (GO:0006289)|phosphorelay signal transduction system (GO:0000160)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|membrane (GO:0016020)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)	estrogen receptor binding (GO:0030331)|protein binding, bridging (GO:0030674)|receptor signaling complex scaffold activity (GO:0030159)|transcription coactivator activity (GO:0003713)	p.S699S(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|stomach(1)	16		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)		GCTGGAATCTGCTCGGGAAGC	0.493								Direct reversal of damage																														uc001kns.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2095-2097)AGC>AGT	Direct_reversal_of_damage|NER	MMS19 nucleotide excision repair homolog							52.0	47.0	48.0					10																	99221792		2203	4300	6503	SO:0001819	synonymous_variant	64210				chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr10:99221792G>A	AF007151	CCDS7464.1, CCDS73177.1	10q24-q25	2007-08-15	2007-08-15	2007-08-15	ENSG00000155229	ENSG00000155229			13824	protein-coding gene	gene with protein product	"""MET18 homolog (S. cerevisiae)"""	614777		MMS19L		11071939	Standard	NM_022362		Approved	MET18, hMMS19	uc001kns.4	Q96T76	OTTHUMG00000018857	ENST00000438925.2:c.2097C>T	10.37:g.99221792G>A						MMS19_uc001knq.2_5'Flank|MMS19_uc009xvs.2_Silent_p.S284S|MMS19_uc009xvt.2_Silent_p.S443S|MMS19_uc001knr.2_Silent_p.S540S|MMS19_uc010qox.1_Silent_p.S677S|MMS19_uc001knt.2_Silent_p.S699S|MMS19_uc001knu.1_RNA	p.S699S	NM_022362	NP_071757	Q96T76	MMS19_HUMAN		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)	21	2322	-		Colorectal(252;0.0846)	699					B0QZ75|B3KPE5|B4DQX2|B4E2I3|D3DR55|F8W9Y2|Q17RZ8|Q5T455|Q66K82|Q7L4W8|Q969Z1|Q96DF1|Q96MR1|Q96RK5|Q96SK1|Q9BUE2|Q9BYS9	Silent	SNP	ENST00000438925.2	37	c.2097C>T	CCDS7464.1	.	.	.	.	.	.	.	.	.	.	G	5.930	0.355664	0.11239	.	.	ENSG00000155229	ENST00000434538	.	.	.	5.84	4.93	0.64822	.	.	.	.	.	T	0.41236	0.1150	.	.	.	0.26202	N	0.979424	.	.	.	.	.	.	T	0.28106	-1.0054	4	.	.	.	.	11.4573	0.50189	0.0665:0.0:0.8071:0.1265	.	.	.	.	V	274	.	.	A	-	2	0	MMS19	99211782	1.000000	0.71417	0.972000	0.41901	0.858000	0.48976	1.657000	0.37366	1.459000	0.47892	0.655000	0.94253	GCA		PASS	0.493	MMS19-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049706.2			3	10	3	10	---	---	---	---
CHUK	1147	broad.mit.edu	37	10	101980409	101980409	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr10:101980409T>C	ENST00000370397.7	-	5	496	c.410A>G	c.(409-411)gAa>gGa	p.E137G		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	137	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|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)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)	p.E137G(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AATTTTGTTTTCATGCAAATA	0.308																																					Ovarian(159;52 1904 10536 35305 37148)	uc001kqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7						c.(409-411)GAA>GGA		conserved helix-loop-helix ubiquitous kinase							90.0	88.0	89.0					10																	101980409		2203	4298	6501	SO:0001583	missense	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101980409T>C	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.410A>G	10.37:g.101980409T>C	ENSP00000359424:p.Glu137Gly						p.E137G	NM_001278	NP_001269	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	5	465	-		Colorectal(252;0.117)	137			Protein kinase.		O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	ENST00000370397.7	37	c.410A>G	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.800936	0.50315	.	.	ENSG00000213341	ENST00000370397	T	0.25579	1.79	5.85	4.7	0.59300	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048217	0.85682	D	0.000000	T	0.40448	0.1117	L	0.52905	1.665	0.58432	D	0.999999	D	0.56968	0.978	P	0.60236	0.871	T	0.13522	-1.0506	10	0.49607	T	0.09	-18.8553	11.4057	0.49896	0.0:0.0:0.1518:0.8482	.	137	O15111	IKKA_HUMAN	G	137	ENSP00000359424:E137G	ENSP00000359424:E137G	E	-	2	0	CHUK	101970399	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.550000	0.60733	1.023000	0.39654	-0.461000	0.05368	GAA		PASS	0.308	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		5	28	5	28	---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105184879	105184879	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr10:105184879G>C	ENST00000369797.3	+	20	2996	c.2902G>C	c.(2902-2904)Gag>Cag	p.E968Q		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	968					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.E968Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTTTGACTCAGAGAAATTGCA	0.572																																						uc001kwy.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(2902-2904)GAG>CAG		programmed cell death 11							89.0	81.0	84.0					10																	105184879		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105184879G>C	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.2902G>C	10.37:g.105184879G>C	ENSP00000358812:p.Glu968Gln						p.E968Q	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	20	2989	+		Colorectal(252;0.0747)|Breast(234;0.128)	968					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.2902G>C	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211930	0.79240	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.10288	2.89	5.65	5.65	0.86999	.	0.155159	0.64402	D	0.000020	T	0.20007	0.0481	L	0.52364	1.645	0.50813	D	0.999896	D	0.53312	0.959	P	0.49887	0.625	T	0.00155	-1.1979	10	0.33940	T	0.23	-35.0299	20.0752	0.97739	0.0:0.0:1.0:0.0	.	968	Q14690	RRP5_HUMAN	Q	968	ENSP00000358812:E968Q	ENSP00000358812:E968Q	E	+	1	0	PDCD11	105174869	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	5.866000	0.69590	2.826000	0.97356	0.491000	0.48974	GAG		PASS	0.572	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			25	68	25	68	---	---	---	---
CCDC186	55088	broad.mit.edu	37	10	115910894	115910894	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr10:115910894G>T	ENST00000369287.3	-	4	1111	c.845C>A	c.(844-846)gCa>gAa	p.A282E		NM_018017.2	NP_060487.2	Q7Z3E2	CC186_HUMAN		282								p.A282E(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		CTGCTGAACTGCATTTTTAGC	0.343																																						uc001lbb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(844-846)GCA>GAA		CTCL tumor antigen L14-2							248.0	210.0	223.0					10																	115910894		2203	4300	6503	SO:0001583	missense	55088							g.chr10:115910894G>T																												ENST00000369287.3:c.845C>A	10.37:g.115910894G>T	ENSP00000358293:p.Ala282Glu					C10orf118_uc001lbc.1_Missense_Mutation_p.A282E|C10orf118_uc009xye.1_RNA	p.A282E	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN		Epithelial(162;0.0161)|all cancers(201;0.0397)	4	1497	-		Colorectal(252;0.172)|Breast(234;0.188)	282			Potential.		Q2M2V6|Q3ZB81|Q6NS91|Q7RTP1|Q8N117|Q8N3G3|Q8N6C2|Q9NWA3	Missense_Mutation	SNP	ENST00000369287.3	37	c.845C>A	CCDS7587.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.895803	0.72639	.	.	ENSG00000165813	ENST00000369287;ENST00000430353	T	0.53206	0.63	5.94	5.04	0.67666	.	0.220188	0.46758	D	0.000279	T	0.49490	0.1560	L	0.60455	1.87	0.80722	D	1	P	0.49783	0.928	P	0.47573	0.55	T	0.43988	-0.9357	10	0.21014	T	0.42	.	13.5496	0.61723	0.0715:0.0:0.9285:0.0	.	282	Q7Z3E2	CJ118_HUMAN	E	282;388	ENSP00000358293:A282E	ENSP00000358293:A282E	A	-	2	0	C10orf118	115900884	1.000000	0.71417	0.991000	0.47740	0.788000	0.44548	5.981000	0.70524	1.537000	0.49254	-0.151000	0.13558	GCA		PASS	0.343	C10orf118-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050455.1			4	76	4	76	---	---	---	---
MCMBP	79892	broad.mit.edu	37	10	121616948	121616948	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr10:121616948G>C	ENST00000360003.3	-	5	500	c.331C>G	c.(331-333)Caa>Gaa	p.Q111E	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.Q111E	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	111					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.Q111E(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						AGTTCTTGTTGAGGCTGTGAT	0.318																																						uc001ler.2																			1	Substitution - Missense(1)		lung(1)		0						c.(331-333)CAA>GAA		chromosome 10 open reading frame 119							100.0	97.0	98.0					10																	121616948		2203	4300	6503	SO:0001583	missense	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121616948G>C	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.331C>G	10.37:g.121616948G>C	ENSP00000353098:p.Gln111Glu					C10orf119_uc001les.1_5'UTR	p.Q111E	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN		all cancers(201;0.0044)	5	629	-		Lung NSC(174;0.109)|all_lung(145;0.142)	111					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.331C>G	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.843881	0.32606	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	5.77	5.77	0.91146	.	0.164006	0.44483	D	0.000450	T	0.47002	0.1422	L	0.39898	1.24	0.49213	D	0.99976	P	0.39576	0.679	B	0.36030	0.216	T	0.48479	-0.9032	9	0.02654	T	1	-0.2118	20.0007	0.97408	0.0:0.0:1.0:0.0	.	111	Q9BTE3	MCMBP_HUMAN	E	111	.	ENSP00000353098:Q111E	Q	-	1	0	MCMBP	121606938	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	7.912000	0.87465	2.726000	0.93360	0.650000	0.86243	CAA		PASS	0.318	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834		9	37	9	37	---	---	---	---
C10orf88	80007	broad.mit.edu	37	10	124708165	124708165	+	Splice_Site	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr10:124708165C>G	ENST00000481909.1	-	4	872	c.648G>C	c.(646-648)cgG>cgC	p.R216R	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	216								p.R216R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		TTCTACTTACCCGCTGCTGAC	0.378																																						uc001lgw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(646-648)CGG>CGC		hypothetical protein LOC80007							80.0	76.0	77.0					10																	124708165		2203	4300	6503	SO:0001630	splice_region_variant	80007							g.chr10:124708165C>G	AK023552	CCDS7632.1	10q26.13	2012-11-09			ENSG00000119965	ENSG00000119965			25822	protein-coding gene	gene with protein product						12477932	Standard	NM_024942		Approved	FLJ13490, Em:AC073585.5	uc001lgw.2	Q9H8K7	OTTHUMG00000019190	ENST00000481909.1:c.648+1G>C	10.37:g.124708165C>G						C10orf88_uc001lgx.2_Silent_p.R118R	p.R216R	NM_024942	NP_079218	Q9H8K7	CJ088_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)	4	873	-		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)	216					Q0P6C6|Q8N597	Silent	SNP	ENST00000481909.1	37	c.648G>C	CCDS7632.1																																																																																				PASS	0.378	C10orf88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050807.1	NM_024942	Silent	8	38	8	38	---	---	---	---
LDLRAD3	143458	broad.mit.edu	37	11	36248660	36248660	+	Silent	SNP	G	G	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr11:36248660G>T	ENST00000315571.5	+	5	501	c.480G>T	c.(478-480)gtG>gtT	p.V160V	LDLRAD3_ENST00000529759.1_3'UTR|LDLRAD3_ENST00000528989.1_Silent_p.V111V|LDLRAD3_ENST00000524419.1_Silent_p.V150V	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	160					receptor-mediated endocytosis (GO:0006898)|regulation of protein processing (GO:0070613)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.V160V(5)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				AGGTGTTTGTGACTTCAGAGA	0.507																																						uc001mwk.1																			5	Substitution - coding silent(5)		prostate(4)|lung(1)	central_nervous_system(1)	1						c.(478-480)GTG>GTT		low density lipoprotein receptor class A domain							119.0	121.0	120.0					11																	36248660		2202	4298	6500	SO:0001819	synonymous_variant	143458					integral to membrane	receptor activity	g.chr11:36248660G>T	AK075546	CCDS31462.1	11p13	2014-06-05			ENSG00000179241	ENSG00000179241			27046	protein-coding gene	gene with protein product						21795536	Standard	NM_174902		Approved	LRAD3	uc001mwk.1	Q86YD5	OTTHUMG00000166313	ENST00000315571.5:c.480G>T	11.37:g.36248660G>T						LDLRAD3_uc010rey.1_Silent_p.V111V|LDLRAD3_uc010rez.1_Silent_p.V39V|LDLRAD3_uc010rfa.1_Intron	p.V160V	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN			5	517	+	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)	160			Extracellular (Potential).		B7Z1U3|B9EG81|Q8NBJ0	Silent	SNP	ENST00000315571.5	37	c.480G>T	CCDS31462.1																																																																																				PASS	0.507	LDLRAD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389085.1	NM_174902		7	209	7	209	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55873016	55873016	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr11:55873016G>T	ENST00000313503.1	+	1	498	c.498G>T	c.(496-498)ttG>ttT	p.L166F		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L166F(2)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGAGCAGATTGCATTTCTACG	0.423										HNSCC(53;0.14)																												uc010riy.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|skin(1)	2						c.(496-498)TTG>TTT		olfactory receptor, family 8, subfamily H,							254.0	228.0	237.0					11																	55873016		2201	4296	6497	SO:0001583	missense	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55873016G>T	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.498G>T	11.37:g.55873016G>T	ENSP00000323982:p.Leu166Phe	HNSCC(53;0.14)					p.L166F	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	498	+	Esophageal squamous(21;0.00693)		166			Extracellular (Potential).		Q6IFC1	Missense_Mutation	SNP	ENST00000313503.1	37	c.498G>T	CCDS31518.1	.	.	.	.	.	.	.	.	.	.	g	13.54	2.267806	0.40095	.	.	ENSG00000181767	ENST00000313503	T	0.00253	8.43	3.35	-1.64	0.08318	GPCR, rhodopsin-like superfamily (1);	0.172224	0.27539	N	0.018915	T	0.00356	0.0011	M	0.75884	2.315	0.09310	N	1	D	0.67145	0.996	D	0.72625	0.978	T	0.51276	-0.8726	10	0.66056	D	0.02	.	3.9229	0.09251	0.0767:0.2153:0.3988:0.3092	.	166	Q8N162	OR8H2_HUMAN	F	166	ENSP00000323982:L166F	ENSP00000323982:L166F	L	+	3	2	OR8H2	55629592	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	-0.120000	0.10660	-0.427000	0.07350	0.440000	0.28878	TTG		PASS	0.423	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		4	181	4	181	---	---	---	---
OR1S2	219958	broad.mit.edu	37	11	57971290	57971290	+	Missense_Mutation	SNP	C	C	T	rs138124206		TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr11:57971290C>T	ENST00000302592.6	-	1	363	c.364G>A	c.(364-366)Gtc>Atc	p.V122I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V122I(2)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TTGTCAGTGACGACAAACACA	0.473													C|||	1	0.000199681	0.0	0.0014	5008	,	,		23345	0.0		0.0	False		,,,				2504	0.0					uc010rkb.1																			2	Substitution - Missense(2)		ovary(1)|lung(1)	ovary(1)	1						c.(364-366)GTC>ATC		olfactory receptor, family 1, subfamily S,		C	ILE/VAL	1,4401	2.1+/-5.4	0,1,2200	170.0	160.0	163.0		364	2.6	0.1	11	dbSNP_134	163	1,8591	1.2+/-3.3	0,1,4295	no	missense	OR1S2	NM_001004459.1	29	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	122/326	57971290	2,12992	2201	4296	6497	SO:0001583	missense	219958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57971290C>T	BK004297	CCDS31545.1	11q12.1	2012-08-09			ENSG00000197887	ENSG00000197887		"""GPCR / Class A : Olfactory receptors"""	15141	protein-coding gene	gene with protein product							Standard	NM_001004459		Approved		uc010rkb.2	Q8NGQ3	OTTHUMG00000167541	ENST00000302592.6:c.364G>A	11.37:g.57971290C>T	ENSP00000305469:p.Val122Ile						p.V122I	NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN			1	364	-		Breast(21;0.0589)	122			Helical; Name=3; (Potential).		Q6IFG5|Q96R85	Missense_Mutation	SNP	ENST00000302592.6	37	c.364G>A	CCDS31545.1	.	.	.	.	.	.	.	.	.	.	C	0.227	-1.023837	0.02061	2.27E-4	1.16E-4	ENSG00000197887	ENST00000302592	T	0.03004	4.08	4.47	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.549745	0.14948	N	0.289105	T	0.02571	0.0078	N	0.16201	0.385	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.46289	-0.9202	10	0.25751	T	0.34	.	9.9047	0.41368	0.0:0.8296:0.0:0.1704	.	122	Q8NGQ3	OR1S2_HUMAN	I	122	ENSP00000305469:V122I	ENSP00000305469:V122I	V	-	1	0	OR1S2	57727866	0.000000	0.05858	0.071000	0.20095	0.143000	0.21401	-0.693000	0.05121	0.625000	0.30304	0.655000	0.94253	GTC		PASS	0.473	OR1S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394703.2	NM_001004459		19	79	19	79	---	---	---	---
OR10W1	81341	broad.mit.edu	37	11	58035329	58035329	+	Start_Codon_SNP	SNP	A	A	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr11:58035329A>T	ENST00000395079.2	-	1	403	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M1K(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CACAAATTCCATCAACACTGA	0.428																																						uc001nmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1-3)ATG>AAG		olfactory receptor, family 10, subfamily W,							51.0	47.0	48.0					11																	58035329		2201	4295	6496	SO:0001582	initiator_codon_variant	81341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58035329A>T	AB065850	CCDS7968.1	11q12.1	2012-08-09	2004-03-04	2004-03-05		ENSG00000172772		"""GPCR / Class A : Olfactory receptors"""	15139	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily W, member 1 pseudogene"""	OR10W1P			Standard	NM_207374		Approved		uc001nmq.1	Q8NGF6		ENST00000395079.2:c.2T>A	11.37:g.58035329A>T	ENSP00000378516:p.Met1Lys						p.M1K	NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN			1	404	-		Breast(21;0.0589)	1			Extracellular (Potential).		A2RUD2|A8MTE1|Q6UXQ2	Missense_Mutation	SNP	ENST00000395079.2	37	c.2T>A	CCDS7968.1	.	.	.	.	.	.	.	.	.	.	A	7.472	0.646883	0.14516	.	.	ENSG00000172772	ENST00000395079	T	0.00003	9.83	5.34	1.59	0.23543	.	0.361934	0.24375	N	0.039075	T	0.00039	0.0001	.	.	.	0.80722	D	1	B	0.13594	0.008	B	0.12156	0.007	T	0.68360	-0.5429	9	0.87932	D	0	.	4.148	0.10225	0.5827:0.1808:0.2365:0.0	.	1	Q8NGF6	O10W1_HUMAN	K	1	ENSP00000378516:M1K	ENSP00000378516:M1K	M	-	2	0	OR10W1	57791905	0.501000	0.26099	0.541000	0.28102	0.005000	0.04900	1.798000	0.38814	0.330000	0.23485	-0.326000	0.08463	ATG		PASS	0.428	OR10W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394704.1	NM_207374	Missense_Mutation	7	19	7	19	---	---	---	---
VWCE	220001	broad.mit.edu	37	11	61048621	61048621	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr11:61048621C>T	ENST00000335613.5	-	8	1260	c.874G>A	c.(874-876)Ggc>Agc	p.G292S		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	292						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G292S(1)		biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCAGGCCGGCCGGCCTCAGGA	0.657																																						uc001nra.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(874-876)GGC>AGC		von Willebrand factor C and EGF domains							36.0	40.0	39.0					11																	61048621		2199	4298	6497	SO:0001583	missense	220001					extracellular region	calcium ion binding	g.chr11:61048621C>T	AK056571	CCDS8002.1	11q12.2	2006-08-04			ENSG00000167992	ENSG00000167992			26487	protein-coding gene	gene with protein product		611115				12869306	Standard	NM_152718		Approved	URG11, FLJ32009, VWC1	uc001nra.3	Q96DN2	OTTHUMG00000168208	ENST00000335613.5:c.874G>A	11.37:g.61048621C>T	ENSP00000334186:p.Gly292Ser					VWCE_uc001nrb.2_RNA	p.G292S	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN			8	1153	-			292					A5PKV0|Q7Z7L6|Q86WK8	Missense_Mutation	SNP	ENST00000335613.5	37	c.874G>A	CCDS8002.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.490128	0.44249	.	.	ENSG00000167992	ENST00000335613	T	0.69806	-0.43	5.51	4.6	0.57074	.	0.098120	0.45361	N	0.000370	T	0.51483	0.1677	L	0.36672	1.1	0.80722	D	1	B	0.31241	0.315	B	0.22386	0.039	T	0.49224	-0.8962	10	0.33141	T	0.24	.	10.053	0.42228	0.0:0.9077:0.0:0.0923	.	292	Q96DN2	VWCE_HUMAN	S	292	ENSP00000334186:G292S	ENSP00000334186:G292S	G	-	1	0	VWCE	60805197	0.770000	0.28543	0.843000	0.33291	0.329000	0.28539	2.354000	0.44098	1.338000	0.45544	0.561000	0.74099	GGC		PASS	0.657	VWCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398811.1	NM_152718		4	134	4	134	---	---	---	---
PPP2R5B	5526	broad.mit.edu	37	11	64694350	64694350	+	Silent	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr11:64694350C>T	ENST00000164133.2	+	3	988	c.366C>T	c.(364-366)atC>atT	p.I122I		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	122					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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.I122I(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GTGTCCTCATCGAGCCCGTCT	0.662																																						uc001oby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(364-366)ATC>ATT		beta isoform of regulatory subunit B56, protein							95.0	82.0	86.0					11																	64694350		2201	4297	6498	SO:0001819	synonymous_variant	5526				signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr11:64694350C>T	L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.366C>T	11.37:g.64694350C>T						PPP2R5B_uc001obz.2_Silent_p.I122I	p.I122I	NM_006244	NP_006235	Q15173	2A5B_HUMAN			3	951	+			122					Q13853	Silent	SNP	ENST00000164133.2	37	c.366C>T	CCDS8085.1																																																																																				PASS	0.662	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385465.1	NM_006244		20	78	20	78	---	---	---	---
ARHGEF17	9828	broad.mit.edu	37	11	73066920	73066920	+	Silent	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr11:73066920G>A	ENST00000263674.3	+	5	3935	c.3585G>A	c.(3583-3585)gaG>gaA	p.E1195E	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1195	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E1195E(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCATGCGTGAGAACAAGGAGA	0.577																																						uc001otu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3583-3585)GAG>GAA		Rho guanine nucleotide exchange factor (GEF) 17							168.0	159.0	162.0					11																	73066920		2200	4293	6493	SO:0001819	synonymous_variant	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73066920G>A	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3585G>A	11.37:g.73066920G>A							p.E1195E	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			5	3606	+			1195			DH.		B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	37	c.3585G>A	CCDS8221.1																																																																																				PASS	0.577	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		53	238	53	238	---	---	---	---
GPR83	10888	broad.mit.edu	37	11	94134045	94134045	+	Silent	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr11:94134045G>C	ENST00000243673.2	-	1	540	c.369C>G	c.(367-369)ctC>ctG	p.L123L	GPR83_ENST00000539203.2_Silent_p.L123L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	123					response to glucocorticoid (GO:0051384)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)	p.L123L(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AGGGGGTGTTGAGCAGCGTGA	0.572																																						uc001pet.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(367-369)CTC>CTG		G protein-coupled receptor 83 precursor							62.0	59.0	60.0					11																	94134045		2201	4298	6499	SO:0001819	synonymous_variant	10888					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr11:94134045G>C	AF236081	CCDS8297.1	11q21	2012-08-21	2003-07-30	2003-08-01	ENSG00000123901	ENSG00000123901		"""GPCR / Class A : Orphans"""	4523	protein-coding gene	gene with protein product		605569	"""G protein-coupled receptor 72"""	GPR72		10760605, 11060465	Standard	NM_016540		Approved		uc001pet.2	Q9NYM4	OTTHUMG00000167779	ENST00000243673.2:c.369C>G	11.37:g.94134045G>C							p.L123L	NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN			1	541	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	123			Helical; Name=2; (Potential).		B0M0K5|Q6NWR4|Q9P1Y8	Silent	SNP	ENST00000243673.2	37	c.369C>G	CCDS8297.1																																																																																				PASS	0.572	GPR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396232.1	NM_016540		16	43	16	43	---	---	---	---
PIWIL4	143689	broad.mit.edu	37	11	94300723	94300723	+	Silent	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr11:94300723C>T	ENST00000299001.6	+	1	250	c.39C>T	c.(37-39)gcC>gcT	p.A13A	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	13					cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)	p.A13A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GAGGCATCGCCCGCAGCCCCA	0.552																																						uc001pfa.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(37-39)GCC>GCT		piwi-like 4							55.0	42.0	46.0					11																	94300723		2199	4297	6496	SO:0001819	synonymous_variant	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94300723C>T	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.39C>T	11.37:g.94300723C>T						PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.1_Intron	p.A13A	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN			1	250	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	13					B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	ENST00000299001.6	37	c.39C>T	CCDS31656.1																																																																																				PASS	0.552	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		4	14	4	14	---	---	---	---
PPP2R1B	5519	broad.mit.edu	37	11	111618706	111618706	+	Silent	SNP	A	A	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr11:111618706A>G	ENST00000527614.1	-	11	1436	c.1371T>C	c.(1369-1371)tcT>tcC	p.S457S	PPP2R1B_ENST00000427203.2_Silent_p.S296S|PPP2R1B_ENST00000393055.2_Silent_p.S330S|PPP2R1B_ENST00000426998.2_Silent_p.S393S|PPP2R1B_ENST00000341980.6_Silent_p.S412S|PPP2R1B_ENST00000311129.5_Silent_p.S457S	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	457					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)		p.S457S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CCATACATAAAGAATTCAGCT	0.333																																						uc001plx.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1369-1371)TCT>TCC		beta isoform of regulatory subunit A, protein							105.0	96.0	99.0					11																	111618706		2201	4296	6497	SO:0001819	synonymous_variant	5519						protein binding	g.chr11:111618706A>G	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1371T>C	11.37:g.111618706A>G						PPP2R1B_uc001plw.1_Silent_p.S457S|PPP2R1B_uc010rwi.1_Silent_p.S393S|PPP2R1B_uc010rwj.1_Silent_p.S296S|PPP2R1B_uc010rwk.1_Silent_p.S412S|PPP2R1B_uc010rwl.1_Silent_p.S330S	p.S457S	NM_002716	NP_002707	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	11	1455	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	457			HEAT 12.		A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Silent	SNP	ENST00000527614.1	37	c.1371T>C	CCDS8349.1																																																																																				PASS	0.333	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716		10	31	10	31	---	---	---	---
PHLDB1	23187	broad.mit.edu	37	11	118509911	118509911	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr11:118509911G>A	ENST00000361417.2	+	13	3089	c.2678G>A	c.(2677-2679)aGa>aAa	p.R893K	PHLDB1_ENST00000356063.5_Missense_Mutation_p.R893K|PHLDB1_ENST00000527898.1_5'UTR|PHLDB1_ENST00000524713.1_5'Flank|AP002954.3_ENST00000530198.1_RNA|PHLDB1_ENST00000534672.1_3'UTR	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	893								p.R893K(1)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTGGAAAGGAGATACCACTCA	0.582																																						uc001ptr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2677-2679)AGA>AAA		pleckstrin homology-like domain, family B,							98.0	86.0	90.0					11																	118509911		2200	4295	6495	SO:0001583	missense	23187							g.chr11:118509911G>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.2678G>A	11.37:g.118509911G>A	ENSP00000354498:p.Arg893Lys					PHLDB1_uc001pts.2_Missense_Mutation_p.R893K|PHLDB1_uc001ptt.2_Missense_Mutation_p.R893K|PHLDB1_uc001ptu.1_RNA|PHLDB1_uc001ptv.1_Missense_Mutation_p.R693K|PHLDB1_uc001ptw.1_Missense_Mutation_p.R295K|PHLDB1_uc009zai.1_5'UTR|PHLDB1_uc001ptx.1_5'UTR|PHLDB1_uc010ryi.1_5'Flank|PHLDB1_uc010ryj.1_5'Flank	p.R893K	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	13	3031	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	893					B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	ENST00000361417.2	37	c.2678G>A	CCDS8401.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983259	0.53827	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063	T;T	0.25250	1.81;1.81	4.53	2.64	0.31445	.	0.403857	0.25383	N	0.031080	T	0.14056	0.0340	N	0.20807	0.61	0.80722	D	1	P;P;P;P	0.40619	0.605;0.724;0.48;0.716	B;B;B;B	0.42112	0.243;0.376;0.188;0.366	T	0.10245	-1.0638	10	0.06625	T	0.88	-0.7574	7.5756	0.27933	0.2677:0.0:0.7323:0.0	.	637;893;893;893	Q5W9G0;Q86UU1-3;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	K	893;652;257;893	ENSP00000354498:R893K;ENSP00000348359:R893K	ENSP00000348359:R893K	R	+	2	0	PHLDB1	118015121	1.000000	0.71417	0.970000	0.41538	0.763000	0.43281	7.523000	0.81856	0.367000	0.24454	0.558000	0.71614	AGA		PASS	0.582	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157		16	92	16	92	---	---	---	---
FOXR1	283150	broad.mit.edu	37	11	118851317	118851317	+	Silent	SNP	C	C	T	rs373442413		TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr11:118851317C>T	ENST00000317011.3	+	5	954	c.729C>T	c.(727-729)agC>agT	p.S243S		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	243					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S243S(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GCGGGGCCAGCACACGGCCTC	0.607																																						uc001pui.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(727-729)AGC>AGT		forkhead box R1							71.0	72.0	71.0					11																	118851317		2200	4295	6495	SO:0001819	synonymous_variant	283150				embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr11:118851317C>T	AB094092	CCDS31688.1	11q23.3	2008-02-05			ENSG00000176302	ENSG00000176302		"""Forkhead boxes"""	29980	protein-coding gene	gene with protein product		615755				15067358	Standard	XM_005271514		Approved	DLNB13, FOXN5	uc001pui.3	Q6PIV2	OTTHUMG00000166347	ENST00000317011.3:c.729C>T	11.37:g.118851317C>T						FOXR1_uc001puj.2_RNA|FOXR1_uc001puk.2_Silent_p.S74S	p.S243S	NM_181721	NP_859072	Q6PIV2	FOXR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)	5	954	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)	243			Fork-head.		B0YJ15|Q08AS8|Q86UT9|Q8IXX2	Silent	SNP	ENST00000317011.3	37	c.729C>T	CCDS31688.1																																																																																				PASS	0.607	FOXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389312.1	NM_181721		30	121	30	121	---	---	---	---
WNK1	65125	broad.mit.edu	37	12	1009828	1009828	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr12:1009828C>A	ENST00000315939.6	+	26	7278	c.6635C>A	c.(6634-6636)cCa>cAa	p.P2212Q	WNK1_ENST00000340908.4_Missense_Mutation_p.P1805Q|WNK1_ENST00000537687.1_Missense_Mutation_p.P2472Q|WNK1_ENST00000530271.2_Missense_Mutation_p.P2710Q|WNK1_ENST00000535572.1_Missense_Mutation_p.P1964Q	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2212					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.P2212Q(1)|p.P2472Q(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CTTTCTGCTCCAGGTCAAGGT	0.473																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3																			2	Substitution - Missense(2)		lung(2)	stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(6634-6636)CCA>CAA		WNK lysine deficient protein kinase 1							207.0	193.0	197.0					12																	1009828		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:1009828C>A	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.6635C>A	12.37:g.1009828C>A	ENSP00000313059:p.Pro2212Gln					WNK1_uc001qip.3_Missense_Mutation_p.P1964Q|WNK1_uc001qir.3_Missense_Mutation_p.P1385Q|WNK1_uc009zdm.1_RNA|WNK1_uc009zdn.1_RNA|uc009zdo.1_5'Flank	p.P2212Q	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		26	7142	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		2212					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.6635C>A	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791277	0.50102	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000537501;ENST00000340908;ENST00000543065	T;T;T;T;T	0.73258	-0.73;-0.69;-0.68;-0.73;0.46	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000017	T	0.47303	0.1438	N	0.03608	-0.345	0.34754	D	0.732084	P;B;B	0.40431	0.717;0.383;0.264	B;B;B	0.37198	0.243;0.095;0.044	T	0.63305	-0.6667	10	0.41790	T	0.15	-12.7775	13.7811	0.63084	0.1533:0.8467:0.0:0.0	.	1965;1964;2212	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	Q	1964;2212;2472;1385;2710;154;1805;22	ENSP00000441972:P1964Q;ENSP00000313059:P2212Q;ENSP00000444465:P2472Q;ENSP00000433548:P2710Q;ENSP00000341292:P1805Q	ENSP00000252477:P1385Q	P	+	2	0	WNK1	880089	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.348000	0.59379	2.688000	0.91661	0.563000	0.77884	CCA		PASS	0.473	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		4	187	4	187	---	---	---	---
PRPF40B	25766	broad.mit.edu	37	12	50037728	50037728	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr12:50037728G>C	ENST00000380281.1	+	24	2528	c.2464G>C	c.(2464-2466)Gag>Cag	p.E822Q	PRPF40B_ENST00000548825.2_Missense_Mutation_p.E843Q|PRPF40B_ENST00000261897.1_Missense_Mutation_p.E809Q|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	822					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.E822Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CAAGGACAGGGAGCTCCAACA	0.552																																						uc001rur.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|kidney(1)	5						c.(2464-2466)GAG>CAG		Huntingtin interacting protein C isoform 1							72.0	77.0	75.0					12																	50037728		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50037728G>C	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2464G>C	12.37:g.50037728G>C	ENSP00000369634:p.Glu822Gln					FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001ruq.1_Missense_Mutation_p.E809Q|PRPF40B_uc001rus.1_Missense_Mutation_p.E764Q|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	p.E822Q	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN			24	2528	+			822					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.2464G>C		.	.	.	.	.	.	.	.	.	.	G	19.58	3.854974	0.71719	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.25250	1.81;1.82	4.62	4.62	0.57501	.	0.277437	0.29389	N	0.012283	T	0.28333	0.0700	L	0.29908	0.895	0.80722	D	1	D;D	0.60575	0.98;0.988	P;P	0.52793	0.515;0.709	T	0.01512	-1.1336	10	0.13853	T	0.58	-13.0668	16.7668	0.85526	0.0:0.0:1.0:0.0	.	822;809	Q6NWY9;Q6NWY9-2	PR40B_HUMAN;.	Q	809;822	ENSP00000261897:E809Q;ENSP00000369634:E822Q	ENSP00000261897:E809Q	E	+	1	0	PRPF40B	48323995	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.208000	0.42797	2.583000	0.87209	0.561000	0.74099	GAG		PASS	0.552	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		16	64	16	64	---	---	---	---
KRT72	140807	broad.mit.edu	37	12	52992774	52992774	+	Silent	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr12:52992774C>A	ENST00000537672.2	-	2	559	c.549G>T	c.(547-549)ctG>ctT	p.L183L	KRT72_ENST00000398066.3_5'UTR|RP11-641A6.2_ENST00000551089.1_RNA|KRT72_ENST00000293745.2_Silent_p.L183L|KRT72_ENST00000354310.4_Silent_p.L183L	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	183	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.L183L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		GCTGCTTCTGCAGGTTGCTGA	0.537																																						uc001sar.2																			2	Substitution - coding silent(2)		lung(1)|prostate(1)	ovary(5)|pancreas(1)	6						c.(547-549)CTG>CTT		keratin 72 isoform 1							184.0	169.0	174.0					12																	52992774		2203	4300	6503	SO:0001819	synonymous_variant	140807					keratin filament	structural molecule activity	g.chr12:52992774C>A	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.549G>T	12.37:g.52992774C>A						KRT72_uc001saq.2_Silent_p.L183L|KRT72_uc010sns.1_Silent_p.L183L|KRT72_uc010snt.1_5'UTR	p.L183L	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	2	635	-			183			Coil 1B.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Silent	SNP	ENST00000537672.2	37	c.549G>T	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	3.080	-0.189199	0.06299	.	.	ENSG00000170486	ENST00000549979	.	.	.	5.25	3.36	0.38483	.	.	.	.	.	T	0.59595	0.2205	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55140	-0.8187	4	.	.	.	.	9.831	0.40941	0.2578:0.492:0.2502:0.0	.	.	.	.	S	180	.	.	A	-	1	0	KRT72	51279041	0.002000	0.14202	0.979000	0.43373	0.336000	0.28762	-0.375000	0.07475	0.813000	0.34350	0.561000	0.74099	GCA		PASS	0.537	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		13	169	13	169	---	---	---	---
MYL6	4637	broad.mit.edu	37	12	56553920	56553920	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr12:56553920C>G	ENST00000550697.1	+	4	578	c.337C>G	c.(337-339)Ctt>Gtt	p.L113V	MYL6_ENST00000547649.1_Missense_Mutation_p.L113V|MYL6_ENST00000549017.1_Missense_Mutation_p.L9V|MYL6_ENST00000548400.1_Missense_Mutation_p.L77V|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000293422.5_Missense_Mutation_p.L114V|MYL6_ENST00000548580.1_Missense_Mutation_p.L65V|MYL6_ENST00000348108.4_Missense_Mutation_p.L114V|MYL6_ENST00000548293.1_Missense_Mutation_p.L113V|MYL6_ENST00000536128.1_Missense_Mutation_p.L206V|MYL6_ENST00000551589.1_Missense_Mutation_p.L113V|RP11-977G19.5_ENST00000553176.1_RNA|MYL6_ENST00000549566.1_Missense_Mutation_p.L158V|MYL6_ENST00000547408.1_Missense_Mutation_p.L113V	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	113	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.L113V(2)		large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			CCGGCATGTTCTTGTCACACT	0.502																																						uc001sjw.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(337-339)CTT>GTT		myosin, light chain 6, alkali, smooth muscle and							76.0	72.0	73.0					12																	56553920		2203	4300	6503	SO:0001583	missense	4637				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	g.chr12:56553920C>G	AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"""Myosins / Light chain"", ""EF-hand domain containing"""	7587	protein-coding gene	gene with protein product		609931	"""myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"""			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.337C>G	12.37:g.56553920C>G	ENSP00000446955:p.Leu113Val					MYL6_uc001sjv.2_Missense_Mutation_p.L113V|MYL6_uc001sjx.1_Missense_Mutation_p.L113V|MYL6_uc010sqd.1_Missense_Mutation_p.L206V|MYL6_uc001sjz.2_Missense_Mutation_p.L78V|MYL6_uc010sqe.1_Missense_Mutation_p.L78V	p.L113V	NM_021019	NP_066299	P60660	MYL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		4	423	+			113			EF-hand 2.		P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Missense_Mutation	SNP	ENST00000550697.1	37	c.337C>G	CCDS8906.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.623065	0.66901	.	.	ENSG00000092841	ENST00000550697;ENST00000548580;ENST00000293422;ENST00000348108;ENST00000549017;ENST00000549566;ENST00000536128;ENST00000547649;ENST00000547408;ENST00000551589;ENST00000553056;ENST00000549392;ENST00000548400;ENST00000548293	D;D;D;D;T;D;D;D;D;D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78;0.48;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78;-2.78	4.19	3.3	0.37823	EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	D	0.96084	0.8724	H	0.94542	3.55	0.80722	D	1	D;D;D;D	0.76494	0.995;0.999;0.997;0.999	D;D;D;D	0.85130	0.989;0.994;0.992;0.997	D	0.96115	0.9080	10	0.87932	D	0	.	11.0267	0.47748	0.0:0.9063:0.0:0.0936	.	206;113;113;113	B7Z6Z4;P60660-2;P60660;F8W1R7	.;.;MYL6_HUMAN;.	V	113;65;114;114;9;158;206;113;113;113;113;101;77;113	ENSP00000446955:L113V;ENSP00000446640:L65V;ENSP00000293422:L114V;ENSP00000301540:L114V;ENSP00000449086:L9V;ENSP00000446709:L158V;ENSP00000441750:L206V;ENSP00000446714:L113V;ENSP00000446721:L113V;ENSP00000446687:L113V;ENSP00000450116:L101V;ENSP00000448859:L77V;ENSP00000448101:L113V	ENSP00000293422:L114V	L	+	1	0	MYL6	54840187	1.000000	0.71417	0.965000	0.40720	0.986000	0.74619	5.924000	0.70054	1.125000	0.41998	0.462000	0.41574	CTT		PASS	0.502	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407928.3			22	60	22	60	---	---	---	---
BAZ2A	11176	broad.mit.edu	37	12	57008797	57008797	+	Splice_Site	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr12:57008797C>A	ENST00000551812.1	-	3	930		c.e3+1		BAZ2A_ENST00000379441.3_Splice_Site|BAZ2A_ENST00000179765.5_Splice_Site|BAZ2A_ENST00000549884.1_Splice_Site	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A						chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.?(3)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CCCAGTTATACCTGGCTGCTC	0.512																																						uc001slq.1																			3	Unknown(3)		lung(3)		0						c.e3+1		bromodomain adjacent to zinc finger domain, 2A							44.0	43.0	43.0					12																	57008797		1964	4140	6104	SO:0001630	splice_region_variant	11176				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding	g.chr12:57008797C>A	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.736+1G>T	12.37:g.57008797C>A						BAZ2A_uc001slp.1_Splice_Site_p.E244_splice|BAZ2A_uc010sqr.1_Missense_Mutation_p.G246V|BAZ2A_uc009zow.1_Splice_Site_p.E214_splice	p.E246_splice	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN			3	930	-								B3KN66|O00536|O15030|Q68DI8|Q96H26	Splice_Site	SNP	ENST00000551812.1	37	c.736_splice	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.041055	0.55003	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2572	0.73593	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BAZ2A	55295064	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.491000	0.60326	2.663000	0.90544	0.655000	0.94253	.		PASS	0.512	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449	Intron	3	12	3	12	---	---	---	---
LINC01465	283416	broad.mit.edu	37	12	62996892	62996892	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr12:62996892G>C	ENST00000408887.2	-	1	322	c.227C>G	c.(226-228)tCg>tGg	p.S76W	RP11-631N16.2_ENST00000550290.1_RNA|MIRLET7I_ENST00000362309.1_RNA	NM_175895.3	NP_787091.1	Q8N7H1	CL061_HUMAN		76								p.S76W(1)		cervix(1)|lung(2)	3			BRCA - Breast invasive adenocarcinoma(9;0.0399)	GBM - Glioblastoma multiforme(28;0.134)		TATCGGCGCCGAGAGCGGGCC	0.766																																						uc001sri.1																			1	Substitution - Missense(1)		lung(1)		0						c.(226-228)TCG>TGG		hypothetical protein LOC283416							4.0	5.0	5.0					12																	62996892		1995	4014	6009	SO:0001583	missense	283416							g.chr12:62996892G>C																												ENST00000408887.2:c.227C>G	12.37:g.62996892G>C	ENSP00000386169:p.Ser76Trp					MIRLET7I_hsa-let-7i|MI0000434_5'Flank|uc001srj.1_5'Flank	p.S76W	NM_175895	NP_787091	Q8N7H1	CL061_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0399)	GBM - Glioblastoma multiforme(28;0.134)	1	323	-			76					B2RMN9|Q3ZCV4	Missense_Mutation	SNP	ENST00000408887.2	37	c.227C>G	CCDS8964.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.494091	0.26774	.	.	ENSG00000221949	ENST00000408887	.	.	.	2.06	1.14	0.20703	.	.	.	.	.	T	0.30293	0.0760	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	D	0.64237	0.923	T	0.14643	-1.0465	7	.	.	.	.	5.7652	0.18224	0.1714:0.0:0.8286:0.0	.	76	Q8N7H1	CL061_HUMAN	W	76	.	.	S	-	2	0	C12orf61	61283159	0.000000	0.05858	0.020000	0.16555	0.036000	0.12997	-0.068000	0.11561	0.206000	0.20587	0.491000	0.48974	TCG		PASS	0.766	C12orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406740.2			5	11	5	11	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81762563	81762563	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr12:81762563C>G	ENST00000549396.1	-	13	1583	c.1423G>C	c.(1423-1425)Gaa>Caa	p.E475Q	PPFIA2_ENST00000552948.1_Missense_Mutation_p.E475Q|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E475Q|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E322Q|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E401Q|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E457Q|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E42Q|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E457Q|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Missense_Mutation_p.E475Q|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E376Q	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	475	Glu-rich.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.E475Q(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCATTGGATTCAGTCAGAAGT	0.343																																						uc001szo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(1423-1425)GAA>CAA		PTPRF interacting protein alpha 2							275.0	260.0	265.0					12																	81762563		1847	4102	5949	SO:0001583	missense	8499							g.chr12:81762563C>G	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1423G>C	12.37:g.81762563C>G	ENSP00000450337:p.Glu475Gln					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.E475Q	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			13	1584	-			401					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.1423G>C	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709564	0.68730	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058;ENST00000548670	T;T;T;T;T;T;T;T;T	0.72725	0.59;0.59;-0.03;0.28;0.61;0.6;0.26;0.65;-0.68	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.76513	0.3998	M	0.84846	2.72	0.80722	D	1	B	0.17038	0.02	B	0.10450	0.005	T	0.75354	-0.3347	10	0.72032	D	0.01	-18.9529	19.4993	0.95086	0.0:1.0:0.0:0.0	.	475	O75334	LIPA2_HUMAN	Q	475;457;42;401;486;457;475;376;475;56;42	ENSP00000450337:E475Q;ENSP00000450298:E457Q;ENSP00000438337:E42Q;ENSP00000385093:E401Q;ENSP00000327416:E457Q;ENSP00000449338:E475Q;ENSP00000388373:E376Q;ENSP00000447868:E475Q;ENSP00000448941:E56Q	ENSP00000327416:E457Q	E	-	1	0	PPFIA2	80286694	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	7.818000	0.86416	2.687000	0.91594	0.563000	0.77884	GAA		PASS	0.343	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			26	82	26	82	---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100452907	100452907	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr12:100452907T>C	ENST00000279907.7	-	14	2360	c.2148A>G	c.(2146-2148)atA>atG	p.I716M	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.I366M	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	716								p.I716M(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTACAAAACTTATTGGCCGTC	0.398																																						uc001tgq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2146-2148)ATA>ATG		UHRF1 (ICBP90) binding protein 1-like isoform a							85.0	90.0	88.0					12																	100452907		2203	4300	6503	SO:0001583	missense	23074							g.chr12:100452907T>C		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2148A>G	12.37:g.100452907T>C	ENSP00000279907:p.Ile716Met					UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.I366M	p.I716M	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN			14	2377	-			716					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.2148A>G	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	T	11.21	1.570161	0.28003	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.10960	2.82;2.83	5.78	4.44	0.53790	.	0.621868	0.17860	N	0.159559	T	0.09555	0.0235	L	0.38175	1.15	0.80722	D	1	B	0.32101	0.356	B	0.24974	0.057	T	0.10917	-1.0609	10	0.72032	D	0.01	-2.9543	12.358	0.55186	0.0:0.0758:0.0:0.9242	.	716	A0JNW5	UH1BL_HUMAN	M	716;366	ENSP00000279907:I716M;ENSP00000444824:I366M	ENSP00000279907:I716M	I	-	3	3	UHRF1BP1L	98977038	1.000000	0.71417	0.962000	0.40283	0.949000	0.60115	2.647000	0.46639	2.214000	0.71695	0.528000	0.53228	ATA		PASS	0.398	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		20	56	20	56	---	---	---	---
GNPTAB	79158	broad.mit.edu	37	12	102158641	102158641	+	Nonsense_Mutation	SNP	G	G	C	rs34901902		TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr12:102158641G>C	ENST00000299314.7	-	13	2316	c.2054C>G	c.(2053-2055)tCa>tGa	p.S685*	RNU6-101P_ENST00000410323.1_RNA	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	685					carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)	p.S685*(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TCTCCTTGTTGAGTTAACATC	0.423																																						uc001tit.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2053-2055)TCA>TGA		N-acetylglucosamine-1-phosphate transferase							52.0	55.0	54.0					12																	102158641		2203	4300	6503	SO:0001587	stop_gained	79158				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	g.chr12:102158641G>C	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.2054C>G	12.37:g.102158641G>C	ENSP00000299314:p.Ser685*						p.S685*	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN			13	2233	-			685					A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	Nonsense_Mutation	SNP	ENST00000299314.7	37	c.2054C>G	CCDS9088.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110681	0.94292	.	.	ENSG00000111670	ENST00000299314	.	.	.	4.76	4.76	0.60689	.	0.565061	0.18717	N	0.133124	.	.	.	.	.	.	0.22112	N	0.999352	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-3.9512	18.6685	0.91501	0.0:0.0:1.0:0.0	.	.	.	.	X	685	.	ENSP00000299314:S685X	S	-	2	0	GNPTAB	100682772	0.148000	0.22702	0.106000	0.21319	0.033000	0.12548	2.819000	0.48049	2.586000	0.87340	0.467000	0.42956	TCA		PASS	0.423	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409182.1			5	44	5	44	---	---	---	---
HCFC2	29915	broad.mit.edu	37	12	104487212	104487212	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr12:104487212G>T	ENST00000229330.4	+	10	1437	c.1333G>T	c.(1333-1335)Gaa>Taa	p.E445*	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	445	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.E445*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AGCCACAAAAGAAACTTCAAT	0.313																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	uc001tkj.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1333-1335)GAA>TAA		host cell factor C2							85.0	78.0	80.0					12																	104487212		2203	4299	6502	SO:0001587	stop_gained	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104487212G>T	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.1333G>T	12.37:g.104487212G>T	ENSP00000229330:p.Glu445*					HCFC2_uc009zul.2_RNA	p.E445*	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN			10	1436	+			445					B2R8Q5|C0H5X3	Nonsense_Mutation	SNP	ENST00000229330.4	37	c.1333G>T	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588300	0.96590	.	.	ENSG00000111727	ENST00000229330	.	.	.	5.72	4.83	0.62350	.	0.445861	0.24628	N	0.036920	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-4.2281	10.4342	0.44426	0.089:0.0:0.911:0.0	.	.	.	.	X	445	.	ENSP00000229330:E445X	E	+	1	0	HCFC2	103011342	1.000000	0.71417	0.998000	0.56505	0.374000	0.29953	3.709000	0.54853	1.422000	0.47177	0.591000	0.81541	GAA		PASS	0.313	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		5	21	5	21	---	---	---	---
BRAP	8315	broad.mit.edu	37	12	112087808	112087808	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr12:112087808C>G	ENST00000327551.6	-	11	1400	c.1260G>C	c.(1258-1260)gaG>gaC	p.E420D	BRAP_ENST00000539060.1_Missense_Mutation_p.E271D|BRAP_ENST00000419234.4_Missense_Mutation_p.E450D			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E450D(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TATCACACTTCTCAATTGTTT	0.358																																					Pancreas(146;846 1904 7830 25130 26065)	uc001tsn.3																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1348-1350)GAG>GAC		BRCA1 associated protein							184.0	169.0	174.0					12																	112087808		2203	4300	6503	SO:0001583	missense	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112087808C>G	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.1260G>C	12.37:g.112087808C>G	ENSP00000330813:p.Glu420Asp					BRAP_uc010syh.1_Missense_Mutation_p.E271D|BRAP_uc009zvv.2_Missense_Mutation_p.E420D	p.E450D	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN			11	1544	-			450			Potential.		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000327551.6	37	c.1350G>C		.	.	.	.	.	.	.	.	.	.	C	14.22	2.470023	0.43839	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	T;T;T	0.51574	0.7;0.74;0.71	5.74	4.86	0.63082	.	0.089556	0.85682	D	0.000000	T	0.35566	0.0936	L	0.35542	1.07	0.47737	D	0.999509	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.002	T	0.14392	-1.0474	10	0.42905	T	0.14	-24.9457	9.6696	0.40004	0.1402:0.7892:0.0:0.0706	.	271;450	B4DRM1;Q7Z569	.;BRAP_HUMAN	D	450;271;420;232	ENSP00000403524:E450D;ENSP00000441659:E271D;ENSP00000330813:E420D	ENSP00000330813:E420D	E	-	3	2	BRAP	110572191	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.387000	0.34430	1.434000	0.47414	0.650000	0.86243	GAG		PASS	0.358	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2			10	37	10	37	---	---	---	---
SRSF9	8683	broad.mit.edu	37	12	120903553	120903553	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr12:120903553C>G	ENST00000229390.3	-	2	409	c.226G>C	c.(226-228)Gat>Cat	p.D76H		NM_003769.2	NP_003760.1	Q13242	SRSF9_HUMAN	serine/arginine-rich splicing factor 9	76	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D76H(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	9						TGGCCATAATCATAACCATTT	0.483																																						uc001tyi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(226-228)GAT>CAT		splicing factor, arginine/serine-rich 9							47.0	47.0	47.0					12																	120903553		2203	4300	6503	SO:0001583	missense	8683				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|RNA binding	g.chr12:120903553C>G	U30825	CCDS9199.1	12q24.31	2013-02-12	2010-06-22	2010-06-22	ENSG00000111786	ENSG00000111786		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10791	protein-coding gene	gene with protein product	"""SR splicing factor 9"""	601943	"""splicing factor, arginine/serine-rich 9"""	SFRS9		7556075, 20516191	Standard	NM_003769		Approved	SRp30c	uc001tyi.3	Q13242	OTTHUMG00000047790	ENST00000229390.3:c.226G>C	12.37:g.120903553C>G	ENSP00000229390:p.Asp76His					SFRS9_uc009zwy.2_Missense_Mutation_p.D76H	p.D76H	NM_003769	NP_003760	Q13242	SRSF9_HUMAN			2	372	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		76			RRM 1.		Q52LD1	Missense_Mutation	SNP	ENST00000229390.3	37	c.226G>C	CCDS9199.1	.	.	.	.	.	.	.	.	.	.	C	16.02	3.005033	0.54254	.	.	ENSG00000111786	ENST00000229390	T	0.16457	2.34	5.05	5.05	0.67936	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.181815	0.47093	D	0.000257	T	0.30510	0.0767	L	0.45137	1.4	0.54753	D	0.999986	D;B	0.56746	0.977;0.097	P;B	0.57548	0.823;0.178	T	0.00967	-1.1497	10	0.59425	D	0.04	.	17.3386	0.87289	0.0:1.0:0.0:0.0	.	76;76	B4DFT9;Q13242	.;SRSF9_HUMAN	H	76	ENSP00000229390:D76H	ENSP00000229390:D76H	D	-	1	0	SRSF9	119387936	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	6.909000	0.75735	2.636000	0.89361	0.557000	0.71058	GAT		PASS	0.483	SRSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108983.2	NM_003769		6	28	6	28	---	---	---	---
RNF10	9921	broad.mit.edu	37	12	120995234	120995234	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr12:120995234C>G	ENST00000325954.4	+	5	1256	c.795C>G	c.(793-795)atC>atG	p.I265M	RNF10_ENST00000413266.2_Missense_Mutation_p.I265M	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	265					negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I265M(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AATGTCCCATCTGTTACAGTT	0.458																																						uc001typ.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(793-795)ATC>ATG		ring finger protein 10							196.0	170.0	178.0					12																	120995234		2203	4300	6503	SO:0001583	missense	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:120995234C>G	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.795C>G	12.37:g.120995234C>G	ENSP00000322242:p.Ile265Met					RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.I171M	p.I265M	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN			5	1278	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		265			RING-type.		Q92550|Q9NPP8|Q9ULW4	Missense_Mutation	SNP	ENST00000325954.4	37	c.795C>G	CCDS9201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.85|16.85	3.235655|3.235655	0.58886|0.58886	.|.	.|.	ENSG00000022840|ENSG00000022840	ENST00000325954;ENST00000458409;ENST00000413266|ENST00000542207;ENST00000541955	D;D|.	0.85484|.	-1.99;-1.99|.	5.74|5.74	2.91|2.91	0.33838|0.33838	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);|.	0.047074|.	0.85682|.	D|.	0.000000|.	T|T	0.38401|0.38401	0.1039|0.1039	N|N	0.16862|0.16862	0.45|0.45	0.58432|0.58432	D|D	0.999998|0.999998	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.69479|.	0.959;0.964|.	T|T	0.09079|0.09079	-1.0691|-1.0691	10|5	0.72032|.	D|.	0.01|.	.|.	9.3912|9.3912	0.38374|0.38374	0.0:0.6523:0.0:0.3477|0.0:0.6523:0.0:0.3477	.|.	265;265|.	Q8N5U6-2;Q8N5U6|.	.;RNF10_HUMAN|.	M|C	265|63;58	ENSP00000322242:I265M;ENSP00000415682:I265M|.	ENSP00000322242:I265M|.	I|S	+|+	3|2	3|0	RNF10|RNF10	119479617|119479617	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.345000|1.345000	0.33953|0.33953	0.897000|0.897000	0.36392|0.36392	0.563000|0.563000	0.77884|0.77884	ATC|TCT		PASS	0.458	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			50	95	50	95	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132445647	132445647	+	Silent	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr12:132445647C>G	ENST00000333577.4	+	2	592	c.483C>G	c.(481-483)ctC>ctG	p.L161L	EP400_ENST00000332482.4_Silent_p.L161L|EP400_ENST00000389561.2_Silent_p.L161L|EP400_ENST00000389562.2_Silent_p.L161L|EP400_ENST00000330386.6_Silent_p.L161L			Q96L91	EP400_HUMAN	E1A binding protein p400	161					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.L161L(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCTGGGCCTCTGCAGCAGCA	0.667																																						uc001ujn.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(481-483)CTC>CTG		E1A binding protein p400							31.0	27.0	28.0					12																	132445647		2202	4298	6500	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132445647C>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.483C>G	12.37:g.132445647C>G						EP400_uc001ujl.2_Silent_p.L161L|EP400_uc001ujm.2_Silent_p.L161L|EP400_uc001ujj.1_Silent_p.L161L|EP400_uc001ujk.2_Silent_p.L161L	p.L161L	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	1	518	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	161					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.483C>G																																																																																					PASS	0.667	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		4	18	4	18	---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133372731	133372731	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr12:133372731G>C	ENST00000450791.2	-	10	2359	c.2176C>G	c.(2176-2178)Ctc>Gtc	p.L726V	GOLGA3_ENST00000456883.2_Missense_Mutation_p.L726V|GOLGA3_ENST00000545875.1_Missense_Mutation_p.L726V|GOLGA3_ENST00000204726.3_Missense_Mutation_p.L726V|GOLGA3_ENST00000537452.1_Missense_Mutation_p.L726V			Q08378	GOGA3_HUMAN	golgin A3	726	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.L726V(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCAAGGTGAGCTGTTTCATC	0.587																																						uc001ukz.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(2176-2178)CTC>GTC		Golgi autoantigen, golgin subfamily a, 3							33.0	35.0	34.0					12																	133372731		2203	4296	6499	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133372731G>C	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.2176C>G	12.37:g.133372731G>C	ENSP00000410378:p.Leu726Val					GOLGA3_uc001ula.1_Missense_Mutation_p.L726V|GOLGA3_uc001ulb.2_Missense_Mutation_p.L726V	p.L726V	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	11	2735	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	726			Gln-rich.|Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.2176C>G	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249059	0.39797	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.41065	1.5;1.5;1.47;1.01;1.01	5.38	3.4	0.38934	.	0.249276	0.40469	N	0.001085	T	0.32315	0.0825	L	0.50333	1.59	0.80722	D	1	P;B;B	0.36465	0.554;0.196;0.348	B;B;B	0.32864	0.154;0.154;0.144	T	0.05801	-1.0863	10	0.42905	T	0.14	.	7.6196	0.28177	0.3944:0.0:0.6056:0.0	.	726;726;726	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	V	726	ENSP00000204726:L726V;ENSP00000410378:L726V;ENSP00000409303:L726V;ENSP00000442143:L726V;ENSP00000442603:L726V	ENSP00000204726:L726V	L	-	1	0	GOLGA3	131882804	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	1.949000	0.40313	0.498000	0.27948	0.609000	0.83330	CTC		PASS	0.587	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		12	49	12	49	---	---	---	---
ZNF10	7556	broad.mit.edu	37	12	133733132	133733132	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr12:133733132G>C	ENST00000248211.6	+	5	1522	c.1300G>C	c.(1300-1302)Gag>Cag	p.E434Q	ZNF10_ENST00000402932.2_Missense_Mutation_p.E300Q|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.E434Q	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	434					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.E434Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AAAACCTTTTGAGTGTAAGGA	0.413																																						uc009zzb.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)|skin(1)	3						c.(1300-1302)GAG>CAG		zinc finger protein 10							105.0	113.0	110.0					12																	133733132		2203	4300	6503	SO:0001583	missense	7556				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:133733132G>C	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.1300G>C	12.37:g.133733132G>C	ENSP00000248211:p.Glu434Gln					ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.2_Missense_Mutation_p.E434Q	p.E434Q	NM_015394	NP_056209	P21506	ZNF10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)	5	1747	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)	434			C2H2-type 8.		B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	37	c.1300G>C	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673642	0.29693	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	T;T;T	0.07444	3.19;3.19;3.19	3.87	2.97	0.34412	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44688	D	0.000427	T	0.07683	0.0193	N	0.17723	0.515	0.80722	D	1	D	0.53619	0.961	P	0.54210	0.745	T	0.30446	-0.9978	9	.	.	.	.	3.0465	0.06155	0.1852:0.0:0.5676:0.2472	.	434	P21506	ZNF10_HUMAN	Q	434;434;300	ENSP00000248211:E434Q;ENSP00000393814:E434Q;ENSP00000384893:E300Q	.	E	+	1	0	ZNF10	132243205	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-1.375000	0.02563	2.156000	0.67533	0.655000	0.94253	GAG		PASS	0.413	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394		25	84	25	84	---	---	---	---
FKBP3	2287	broad.mit.edu	37	14	45587322	45587322	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr14:45587322C>T	ENST00000216330.3	-	7	939	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	FKBP3_ENST00000396062.3_Missense_Mutation_p.E177K			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	177	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)	p.E177K(1)		NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						AAGAGAGCTTCATCCCACTAA	0.393																																						uc010tqf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(529-531)GAA>AAA		FK506 binding protein 3, 25kDa							107.0	111.0	110.0					14																	45587322		2203	4300	6503	SO:0001583	missense	2287				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity	g.chr14:45587322C>T	M96256	CCDS9683.1	14q21.2	2008-08-11	2002-08-29		ENSG00000100442	ENSG00000100442			3719	protein-coding gene	gene with protein product		186947	"""FK506-binding protein 3 (25kD)"""			1374240, 1532945	Standard	NM_002013		Approved	FKBP-25, PPIase	uc010tqf.2	Q00688	OTTHUMG00000140267	ENST00000216330.3:c.529G>A	14.37:g.45587322C>T	ENSP00000216330:p.Glu177Lys						p.E177K	NM_002013	NP_002004	Q00688	FKBP3_HUMAN			6	602	-			177			PPIase FKBP-type.		B2R4Q9|Q14317	Missense_Mutation	SNP	ENST00000216330.3	37	c.529G>A	CCDS9683.1	.	.	.	.	.	.	.	.	.	.	C	36	5.717804	0.96839	.	.	ENSG00000100442	ENST00000216330;ENST00000396062	D;D	0.87179	-2.22;-2.22	6.02	6.02	0.97574	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.000000	0.85682	D	0.000000	D	0.88644	0.6492	M	0.82923	2.615	0.80722	D	1	P	0.47962	0.903	B	0.38264	0.269	D	0.90092	0.4178	10	0.62326	D	0.03	-41.7882	20.1323	0.98003	0.0:1.0:0.0:0.0	.	177	Q00688	FKBP3_HUMAN	K	177	ENSP00000216330:E177K;ENSP00000379374:E177K	ENSP00000216330:E177K	E	-	1	0	FKBP3	44657072	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.769000	0.85360	2.857000	0.98124	0.650000	0.86243	GAA		PASS	0.393	FKBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276796.1	NM_002013		11	66	11	66	---	---	---	---
FRMD6	122786	broad.mit.edu	37	14	52182111	52182111	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr14:52182111C>A	ENST00000344768.5	+	10	1114	c.918C>A	c.(916-918)tgC>tgA	p.C306*	FRMD6_ENST00000553556.1_5'Flank|FRMD6_ENST00000356218.4_Nonsense_Mutation_p.C298*|FRMD6_ENST00000395718.2_Nonsense_Mutation_p.C298*|FRMD6_ENST00000554167.1_Nonsense_Mutation_p.C229*			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	306	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.C298*(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					ACACGGGGTGCCCCATGCGCT	0.512																																						uc001wzd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(916-918)TGC>TGA		FERM domain containing 6							64.0	67.0	66.0					14																	52182111		2203	4300	6503	SO:0001587	stop_gained	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52182111C>A	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.918C>A	14.37:g.52182111C>A	ENSP00000343899:p.Cys306*					FRMD6_uc001wzb.2_Nonsense_Mutation_p.C298*|FRMD6_uc001wzc.2_Nonsense_Mutation_p.C298*|FRMD6_uc001wze.2_Nonsense_Mutation_p.C229*|FRMD6_uc001wzf.2_5'UTR|FRMD6_uc001wzg.2_5'Flank	p.C306*	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN			10	1203	+	all_epithelial(31;0.0163)|Breast(41;0.089)		306			FERM.		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Nonsense_Mutation	SNP	ENST00000344768.5	37	c.918C>A	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	C	36	5.817868	0.96982	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555197	.	.	.	6.02	3.19	0.36642	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	9.7248	0.40324	0.0:0.7813:0.0:0.2187	.	.	.	.	X	298;298;306;229;36	.	ENSP00000343899:C306X	C	+	3	2	FRMD6	51251861	0.775000	0.28604	1.000000	0.80357	0.979000	0.70002	-0.035000	0.12205	0.864000	0.35578	0.655000	0.94253	TGC		PASS	0.512	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		13	25	13	25	---	---	---	---
ZBTB1	22890	broad.mit.edu	37	14	64988550	64988550	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr14:64988550C>G	ENST00000554015.1	+	4	759	c.328C>G	c.(328-330)Cct>Gct	p.P110A	ZBTB1_ENST00000358738.3_Missense_Mutation_p.P110A|ZBTB1_ENST00000394712.2_Missense_Mutation_p.P110A|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	110					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P110A(2)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		ATACAATGTTCCTGACTGTTT	0.378																																						uc001xhh.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(328-330)CCT>GCT		zinc finger and BTB domain containing 1 isoform							107.0	110.0	109.0					14																	64988550		2203	4300	6503	SO:0001583	missense	22890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:64988550C>G	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.328C>G	14.37:g.64988550C>G	ENSP00000451000:p.Pro110Ala					ZBTB1_uc010aqg.2_Missense_Mutation_p.P110A|ZBTB1_uc001xhi.2_Missense_Mutation_p.P110A	p.P110A	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)	4	759	+		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)	110					A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	37	c.328C>G	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.709180	0.68615	.	.	ENSG00000126804	ENST00000553583;ENST00000556965;ENST00000554015;ENST00000358738;ENST00000394712	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	6.17	6.17	0.99709	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.093409	0.48767	D	0.000173	T	0.71358	0.3330	N	0.11845	0.185	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	T	0.73811	-0.3865	10	0.49607	T	0.09	-14.3412	20.8794	0.99867	0.0:1.0:0.0:0.0	.	110;110	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	A	110	ENSP00000451584:P110A;ENSP00000450689:P110A;ENSP00000451000:P110A;ENSP00000351587:P110A;ENSP00000378201:P110A	ENSP00000351587:P110A	P	+	1	0	ZBTB1	64058303	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CCT		PASS	0.378	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			33	51	33	51	---	---	---	---
ZBTB1	22890	broad.mit.edu	37	14	64988812	64988812	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr14:64988812C>T	ENST00000554015.1	+	4	1021	c.590C>T	c.(589-591)tCc>tTc	p.S197F	ZBTB1_ENST00000358738.3_Missense_Mutation_p.S197F|ZBTB1_ENST00000394712.2_Missense_Mutation_p.S197F|RP11-973N13.4_ENST00000554918.1_RNA			Q9Y2K1	ZBTB1_HUMAN	zinc finger and BTB domain containing 1	197					B cell differentiation (GO:0030183)|innate immune response (GO:0045087)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of pro-T cell differentiation (GO:2000176)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated immunity (GO:0002711)|protein homooligomerization (GO:0051260)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.S197F(2)		kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)		AAAAAAAGTTCCGTGTCCAAA	0.378																																						uc001xhh.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(589-591)TCC>TTC		zinc finger and BTB domain containing 1 isoform							85.0	87.0	87.0					14																	64988812		2203	4300	6503	SO:0001583	missense	22890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:64988812C>T	AB023214	CCDS32097.1, CCDS45126.1	14q23.3	2013-01-09			ENSG00000126804	ENSG00000126804		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	20259	protein-coding gene	gene with protein product						10231032	Standard	NM_014950		Approved	KIAA0997, ZNF909	uc010aqg.3	Q9Y2K1		ENST00000554015.1:c.590C>T	14.37:g.64988812C>T	ENSP00000451000:p.Ser197Phe					ZBTB1_uc010aqg.2_Missense_Mutation_p.S197F|ZBTB1_uc001xhi.2_Missense_Mutation_p.S197F	p.S197F	NM_001123329	NP_001116801	Q9Y2K1	ZBTB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012)	4	1021	+		all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294)	197					A8K6S8|Q86SW8	Missense_Mutation	SNP	ENST00000554015.1	37	c.590C>T	CCDS45126.1	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927284	0.34002	.	.	ENSG00000126804	ENST00000554015;ENST00000358738;ENST00000394712	T;T;T	0.13196	2.61;3.18;2.61	6.17	6.17	0.99709	.	0.088559	0.49916	D	0.000121	T	0.09642	0.0237	N	0.19112	0.55	0.32376	N	0.555216	P;P	0.43094	0.799;0.553	B;B	0.41946	0.371;0.204	T	0.02560	-1.1141	10	0.02654	T	1	-20.2677	15.581	0.76439	0.1377:0.8623:0.0:0.0	.	197;197	Q9Y2K1-2;Q9Y2K1	.;ZBTB1_HUMAN	F	197	ENSP00000451000:S197F;ENSP00000351587:S197F;ENSP00000378201:S197F	ENSP00000351587:S197F	S	+	2	0	ZBTB1	64058565	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	3.632000	0.54287	2.941000	0.99782	0.655000	0.94253	TCC		PASS	0.378	ZBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411912.1			26	53	26	53	---	---	---	---
SPATA7	55812	broad.mit.edu	37	14	88904590	88904590	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr14:88904590G>A	ENST00000393545.4	+	12	1913	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K	SPATA7_ENST00000356583.5_Missense_Mutation_p.E510K|SPATA7_ENST00000045347.7_Intron|SPATA7_ENST00000556553.1_Missense_Mutation_p.E510K	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	542					response to stimulus (GO:0050896)|visual perception (GO:0007601)			p.E542K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						GAATGTCATTGAAGGTGATAG	0.388																																						uc001xwq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1624-1626)GAA>AAA		spermatogenesis-associated protein 7 isoform a							98.0	87.0	91.0					14																	88904590		2203	4300	6503	SO:0001583	missense	55812				response to stimulus|visual perception			g.chr14:88904590G>A	AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.1624G>A	14.37:g.88904590G>A	ENSP00000377176:p.Glu542Lys					SPATA7_uc001xwr.2_Missense_Mutation_p.E510K|SPATA7_uc001xws.2_Missense_Mutation_p.E478K|SPATA7_uc001xwt.2_Missense_Mutation_p.E436K|SPATA7_uc001xwu.2_Intron	p.E542K	NM_018418	NP_060888	Q9P0W8	SPAT7_HUMAN			12	1775	+			542					Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	ENST00000393545.4	37	c.1624G>A	CCDS9883.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673492	0.88445	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583	T;T;T	0.43294	0.95;1.04;0.95	5.35	5.35	0.76521	.	0.345100	0.28821	N	0.014022	T	0.61578	0.2358	M	0.65975	2.015	0.39770	D	0.972156	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	T	0.57929	-0.7726	10	0.35671	T	0.21	-25.8714	14.7506	0.69522	0.0:0.0:1.0:0.0	.	510;510;542	A8K3L6;Q9P0W8-2;Q9P0W8	.;.;SPAT7_HUMAN	K	510;542;510	ENSP00000451128:E510K;ENSP00000377176:E542K;ENSP00000348991:E510K	ENSP00000348991:E510K	E	+	1	0	SPATA7	87974343	0.942000	0.31987	1.000000	0.80357	0.947000	0.59692	1.682000	0.37628	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.388	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410172.1			6	51	6	51	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105409872	105409872	+	Silent	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr14:105409872C>T	ENST00000333244.5	-	7	12035	c.11916G>A	c.(11914-11916)aaG>aaA	p.K3972K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3972						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.K3972K(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCATCTTGAACTTGGGCATTT	0.622																																						uc010axc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(11914-11916)AAG>AAA		AHNAK nucleoprotein 2							241.0	239.0	240.0					14																	105409872		2015	4170	6185	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409872C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11916G>A	14.37:g.105409872C>T						AHNAK2_uc001ypx.2_Silent_p.K3872K	p.K3972K	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12036	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3972					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.11916G>A	CCDS45177.1																																																																																				PASS	0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		27	705	27	705	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105409902	105409902	+	Silent	SNP	C	C	A	rs371817706		TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr14:105409902C>A	ENST00000333244.5	-	7	12005	c.11886G>T	c.(11884-11886)acG>acT	p.T3962T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3962						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.T3962T(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCTTTGGCCGTCATGTCCT	0.622																																						uc010axc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(11884-11886)ACG>ACT		AHNAK nucleoprotein 2							223.0	217.0	219.0					14																	105409902		2008	4158	6166	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105409902C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11886G>T	14.37:g.105409902C>A						AHNAK2_uc001ypx.2_Silent_p.T3862T	p.T3962T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	12006	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3962					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.11886G>T	CCDS45177.1																																																																																				PASS	0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		48	679	48	679	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105419662	105419662	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr14:105419662A>T	ENST00000333244.5	-	7	2245	c.2126T>A	c.(2125-2127)gTg>gAg	p.V709E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	709						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.V709E(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGGAGGCTCACGTCGGCCTC	0.607																																						uc010axc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2125-2127)GTG>GAG		AHNAK nucleoprotein 2							129.0	140.0	136.0					14																	105419662		1986	4162	6148	SO:0001583	missense	113146					nucleus		g.chr14:105419662A>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2126T>A	14.37:g.105419662A>T	ENSP00000353114:p.Val709Glu					AHNAK2_uc001ypx.2_Missense_Mutation_p.V609E	p.V709E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2246	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	709					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2126T>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	a	12.20	1.866755	0.32977	.	.	ENSG00000185567	ENST00000333244	T	0.01165	5.24	2.77	1.58	0.23477	.	.	.	.	.	T	0.06188	0.0160	M	0.91038	3.17	0.09310	N	1	D	0.71674	0.998	P	0.59703	0.862	T	0.12915	-1.0529	9	0.59425	D	0.04	-2.0318	7.1733	0.25730	0.8815:0.0:0.1185:0.0	.	709	Q8IVF2	AHNK2_HUMAN	E	709	ENSP00000353114:V709E	ENSP00000353114:V709E	V	-	2	0	AHNAK2	104490707	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	1.212000	0.32394	0.044000	0.15775	0.454000	0.30748	GTG		PASS	0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		138	151	138	151	---	---	---	---
C15orf56	644809	broad.mit.edu	37	15	40544699	40544699	+	Silent	SNP	C	C	G	rs373664252		TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr15:40544699C>G	ENST00000319503.3	-	2	294	c.273G>C	c.(271-273)gcG>gcC	p.A91A	C15orf56_ENST00000559727.1_3'UTR|PAK6_ENST00000455577.2_Intron|PAK6_ENST00000260404.4_Intron|PAK6_ENST00000542403.2_5'Flank|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000560346.1_Intron|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000453867.1_Intron	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN	chromosome 15 open reading frame 56	91								p.A91A(1)		lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		CAACTTCTCCCGCGCTCTGGG	0.662																																						uc001zla.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(271-273)GCG>GCC		hypothetical protein LOC644809		C	,,,	0,4406		0,0,2203	23.0	27.0	26.0		273,,,	-0.1	0.0	15		26	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,intron,intron	PAK6,C15orf56	NM_001039905.1,NM_001128628.1,NM_001128629.1,NM_020168.4	,,,	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	,,,	91/162,,,	40544699	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	644809							g.chr15:40544699C>G		CCDS32197.1	15q15.1	2012-05-30			ENSG00000176753	ENSG00000176753			33868	protein-coding gene	gene with protein product							Standard	NM_001039905		Approved	FLJ38596	uc001zla.2	Q8N910	OTTHUMG00000172399	ENST00000319503.3:c.273G>C	15.37:g.40544699C>G						PAK6_uc010bbl.2_Intron|PAK6_uc010bbm.2_Intron|PAK6_uc001zky.3_Intron|PAK6_uc010bbn.2_Intron|PAK6_uc001zlb.2_5'Flank	p.A91A	NM_001039905	NP_001034994	Q8N910	CO056_HUMAN		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)	2	294	-		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)	91						Silent	SNP	ENST00000319503.3	37	c.273G>C	CCDS32197.1																																																																																				PASS	0.662	C15orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418370.2	NM_001039905		6	23	6	23	---	---	---	---
LIPC	3990	broad.mit.edu	37	15	58834752	58834752	+	Missense_Mutation	SNP	G	G	A	rs145742763		TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr15:58834752G>A	ENST00000356113.6	+	6	1091	c.476G>A	c.(475-477)cGa>cAa	p.R159Q	LIPC_ENST00000299022.5_Missense_Mutation_p.R159Q|LIPC_ENST00000433326.2_Missense_Mutation_p.R98Q|LIPC_ENST00000414170.3_Missense_Mutation_p.R159Q			P11150	LIPC_HUMAN	lipase, hepatic	159					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)	p.R159Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		CAACTCTCTCGAAGCCATGTT	0.562																																						uc010bga.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(475-477)CGA>CAA		lipase C precursor		G	GLN/ARG	2,4382	4.2+/-10.8	0,2,2190	194.0	167.0	176.0		476	-2.6	0.1	15	dbSNP_134	176	1,8583	1.2+/-3.3	0,1,4291	no	missense	LIPC	NM_000236.2	43	0,3,6481	AA,AG,GG		0.0116,0.0456,0.0231	possibly-damaging	159/500	58834752	3,12965	2192	4292	6484	SO:0001583	missense	3990				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	g.chr15:58834752G>A		CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.476G>A	15.37:g.58834752G>A	ENSP00000348425:p.Arg159Gln					LIPC_uc010bfz.1_Missense_Mutation_p.R159Q|LIPC_uc002afa.1_Missense_Mutation_p.R159Q|LIPC_uc010bgb.1_Missense_Mutation_p.R57Q|LIPC_uc010ugy.1_Missense_Mutation_p.R98Q	p.R159Q	NM_000236	NP_000227	P11150	LIPC_HUMAN		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)	6	1084	+		Colorectal(260;0.215)	159					A2RUB4|A8K9B6|O43571|P78529|Q99465	Missense_Mutation	SNP	ENST00000356113.6	37	c.476G>A	CCDS10166.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240129	0.79912	4.56E-4	1.16E-4	ENSG00000166035	ENST00000356113;ENST00000414170;ENST00000299022;ENST00000433326	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	4.95	-2.63	0.06133	Lipase, N-terminal (1);	0.534882	0.17739	N	0.163608	D	0.91126	0.7206	L	0.41961	1.31	0.09310	N	1	P;D	0.67145	0.898;0.996	P;P	0.55455	0.448;0.776	D	0.86744	0.1956	10	0.62326	D	0.03	.	20.8112	0.99722	0.0:0.6517:0.3483:0.0	.	98;159	E7EUK6;P11150	.;LIPC_HUMAN	Q	159;159;159;98	ENSP00000348425:R159Q;ENSP00000395569:R159Q;ENSP00000299022:R159Q;ENSP00000395002:R98Q	ENSP00000299022:R159Q	R	+	2	0	LIPC	56622044	0.007000	0.16637	0.062000	0.19696	0.507000	0.33981	0.178000	0.16820	-0.706000	0.05028	-0.344000	0.07964	CGA		PASS	0.562	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416209.1			36	197	36	197	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62223364	62223364	+	Nonsense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr15:62223364G>C	ENST00000261517.5	-	50	6036	c.5963C>G	c.(5962-5964)tCa>tGa	p.S1988*	VPS13C_ENST00000395898.3_Nonsense_Mutation_p.S1945*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.S1988*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.S1945*	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.S1988*(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GACATTCATTGAGCCATCCTT	0.423																																						uc002agz.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(5962-5964)TCA>TGA		vacuolar protein sorting 13C protein isoform 2A							148.0	125.0	133.0					15																	62223364		2203	4300	6503	SO:0001587	stop_gained	54832				protein localization			g.chr15:62223364G>C	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.5963C>G	15.37:g.62223364G>C	ENSP00000261517:p.Ser1988*					VPS13C_uc002aha.2_Nonsense_Mutation_p.S1945*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.S1988*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.S1945*	p.S1988*	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			50	6037	-			1988						Nonsense_Mutation	SNP	ENST00000261517.5	37	c.5963C>G	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	G	46	12.952138	0.99709	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	.	.	.	5.41	5.41	0.78517	.	0.359172	0.29684	N	0.011473	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.5729	0.95428	0.0:0.0:1.0:0.0	.	.	.	.	X	1945;1988;1988;1988	.	ENSP00000249837:S1945X	S	-	2	0	VPS13C	60010656	1.000000	0.71417	0.851000	0.33527	0.942000	0.58702	4.957000	0.63652	2.684000	0.91462	0.650000	0.86243	TCA		PASS	0.423	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		35	33	35	33	---	---	---	---
PTPN9	5780	broad.mit.edu	37	15	75762273	75762273	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr15:75762273G>A	ENST00000306726.2	-	12	1939	c.1427C>T	c.(1426-1428)tCa>tTa	p.S476L		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	476	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine phosphatase activity (GO:0004725)	p.S476L(1)		central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGAAGCTGCTGAGGAAGGGAC	0.522																																						uc002bal.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|skin(1)	2						c.(1426-1428)TCA>TTA		protein tyrosine phosphatase, non-receptor type							121.0	97.0	105.0					15																	75762273		2197	4294	6491	SO:0001583	missense	5780					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr15:75762273G>A		CCDS10280.1	15q23	2011-06-09			ENSG00000169410	ENSG00000169410		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9661	protein-coding gene	gene with protein product		600768				1557404	Standard	NM_002833		Approved	MEG2	uc002bal.3	P43378	OTTHUMG00000142838	ENST00000306726.2:c.1427C>T	15.37:g.75762273G>A	ENSP00000303554:p.Ser476Leu						p.S476L	NM_002833	NP_002824	P43378	PTN9_HUMAN			12	1935	-			476			Tyrosine-protein phosphatase.		Q53XR9	Missense_Mutation	SNP	ENST00000306726.2	37	c.1427C>T	CCDS10280.1	.	.	.	.	.	.	.	.	.	.	G	34	5.370029	0.95900	.	.	ENSG00000169410	ENST00000306726;ENST00000544966	T	0.16457	2.34	5.78	4.86	0.63082	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.38639	0.1048	M	0.83852	2.665	0.80722	D	1	D	0.59357	0.985	P	0.56216	0.794	T	0.39603	-0.9606	10	0.59425	D	0.04	.	13.6659	0.62396	0.0735:0.0:0.9265:0.0	.	476	P43378	PTN9_HUMAN	L	476;466	ENSP00000303554:S476L	ENSP00000303554:S476L	S	-	2	0	PTPN9	73549326	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	9.027000	0.93706	1.439000	0.47511	0.655000	0.94253	TCA		PASS	0.522	PTPN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286474.1			54	30	54	30	---	---	---	---
HAPLN3	145864	broad.mit.edu	37	15	89424863	89424863	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr15:89424863C>T	ENST00000359595.3	-	3	432	c.218G>A	c.(217-219)cGc>cAc	p.R73H	HAPLN3_ENST00000562889.1_Missense_Mutation_p.R135H	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	73	Ig-like V-type. {ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.R73H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	CGGCTCGTAGCGGTAGCGGCA	0.647																																						uc002bnc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(217-219)CGC>CAC		hyaluronan and proteoglycan link protein 3							55.0	58.0	57.0					15																	89424863		2200	4298	6498	SO:0001583	missense	145864				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr15:89424863C>T	AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.218G>A	15.37:g.89424863C>T	ENSP00000352606:p.Arg73His					HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Missense_Mutation_p.R135H	p.R73H	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN			3	346	-	Lung NSC(78;0.0392)|all_lung(78;0.077)		73			Ig-like V-type.		A8K7P0	Missense_Mutation	SNP	ENST00000359595.3	37	c.218G>A	CCDS10346.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.045099	0.00398	.	.	ENSG00000140511	ENST00000359595	T	0.65732	-0.17	4.22	0.434	0.16539	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.356939	0.28641	N	0.014635	T	0.25005	0.0607	N	0.01438	-0.865	0.26531	N	0.974256	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.34354	-0.9832	10	0.02654	T	1	-25.7791	8.7656	0.34700	0.0:0.3331:0.0:0.6669	.	73;73	A8K7T8;Q96S86	.;HPLN3_HUMAN	H	73	ENSP00000352606:R73H	ENSP00000352606:R73H	R	-	2	0	HAPLN3	87225867	0.150000	0.22732	0.925000	0.36789	0.009000	0.06853	-0.636000	0.05465	-0.211000	0.10124	-2.048000	0.00412	CGC		PASS	0.647	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309070.1	NM_178232		60	90	60	90	---	---	---	---
CLCN7	1186	broad.mit.edu	37	16	1499072	1499072	+	Silent	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr16:1499072C>T	ENST00000382745.4	-	19	2297	c.1692G>A	c.(1690-1692)ctG>ctA	p.L564L	LA16c-390E6.5_ENST00000566287.1_RNA|CLCN7_ENST00000262318.8_Silent_p.L540L|LA16c-390E6.4_ENST00000563610.1_RNA|CLCN7_ENST00000448525.1_Silent_p.L540L	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	564					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.L564L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CGGTCAGGCTCAGTGTCATCC	0.617																																						uc002clv.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1690-1692)CTG>CTA		chloride channel 7 isoform a							95.0	69.0	78.0					16																	1499072		2198	4298	6496	SO:0001819	synonymous_variant	1186					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chr16:1499072C>T	Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.1692G>A	16.37:g.1499072C>T						CLCN7_uc010brq.1_5'Flank|CLCN7_uc002clu.2_Silent_p.L12L|CLCN7_uc002clw.2_Silent_p.L540L	p.L564L	NM_001287	NP_001278	P51798	CLCN7_HUMAN			19	1802	-		Hepatocellular(780;0.0893)	564					A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Silent	SNP	ENST00000382745.4	37	c.1692G>A	CCDS32361.1																																																																																				PASS	0.617	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2	NM_001287		37	31	37	31	---	---	---	---
SLX4	84464	broad.mit.edu	37	16	3652259	3652259	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr16:3652259C>G	ENST00000294008.3	-	4	1450	c.810G>C	c.(808-810)ttG>ttC	p.L270F		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	270	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)	p.L270F(1)		breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCTGCAGGGTCAAGGCCACCG	0.537								Direct reversal of damage																														uc002cvp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(808-810)TTG>TTC	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							103.0	96.0	98.0					16																	3652259		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3652259C>G	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.810G>C	16.37:g.3652259C>G	ENSP00000294008:p.Leu270Phe					BTBD12_uc002cvq.1_Missense_Mutation_p.L270F	p.L270F	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			4	1437	-			270			Interaction with C20orf94, ERCC4 and MSH2.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.810G>C	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077840	0.76528	.	.	ENSG00000188827	ENST00000294008	T	0.01560	4.77	5.73	3.78	0.43462	.	0.279402	0.29544	N	0.011858	T	0.06142	0.0159	L	0.54323	1.7	0.31290	N	0.689572	D	0.76494	0.999	D	0.66716	0.946	T	0.02581	-1.1138	10	0.66056	D	0.02	.	8.8862	0.35404	0.0:0.7702:0.0:0.2298	.	270	Q8IY92	SLX4_HUMAN	F	270	ENSP00000294008:L270F	ENSP00000294008:L270F	L	-	3	2	SLX4	3592260	0.996000	0.38824	0.996000	0.52242	0.876000	0.50452	1.075000	0.30716	0.781000	0.33589	0.655000	0.94253	TTG		PASS	0.537	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		4	182	4	182	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9857426	9857426	+	Silent	SNP	G	G	A	rs545080350		TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr16:9857426G>A	ENST00000396573.2	-	14	4284	c.3975C>T	c.(3973-3975)taC>taT	p.Y1325Y	GRIN2A_ENST00000330684.3_Silent_p.Y1325Y|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Silent_p.Y1325Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1325					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.Y1325Y(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACAGGCTGCCGTAAAAATTTC	0.527																																						uc002czo.3																			1	Substitution - coding silent(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3973-3975)TAC>TAT		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						85.0	89.0	88.0					16																	9857426		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857426G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3975C>T	16.37:g.9857426G>A						GRIN2A_uc010uym.1_Silent_p.Y1325Y|GRIN2A_uc010uyn.1_Intron|GRIN2A_uc002czr.3_Intron	p.Y1325Y	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	4523	-			1325			Cytoplasmic (Potential).		O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.3975C>T	CCDS10539.1																																																																																				PASS	0.527	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			51	68	51	68	---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15831356	15831356	+	Silent	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr16:15831356G>C	ENST00000300036.5	-	25	3352	c.3243C>G	c.(3241-3243)ctC>ctG	p.L1081L	MYH11_ENST00000452625.2_Silent_p.L1088L|MYH11_ENST00000576790.2_Silent_p.L1081L|MYH11_ENST00000396324.3_Silent_p.L1088L	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1081					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.L1081L(1)|p.L1088L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTGCATCTTGAGCTCTGCGA	0.627			T	CBFB	AML																																	uc002ddy.2				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		2	Substitution - coding silent(2)		lung(2)	ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(3241-3243)CTC>CTG		smooth muscle myosin heavy chain 11 isoform							95.0	79.0	85.0					16																	15831356		2197	4300	6497	SO:0001819	synonymous_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15831356G>C	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.3243C>G	16.37:g.15831356G>C						MYH11_uc002ddv.2_Silent_p.L1088L|MYH11_uc002ddw.2_Silent_p.L1081L|MYH11_uc002ddx.2_Silent_p.L1088L|MYH11_uc010bvg.2_Silent_p.L913L	p.L1081L	NM_002474	NP_002465	P35749	MYH11_HUMAN			25	3350	-			1081			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	c.3243C>G	CCDS10565.1																																																																																				PASS	0.627	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		55	196	55	196	---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15841585	15841585	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr16:15841585G>C	ENST00000300036.5	-	19	2362	c.2253C>G	c.(2251-2253)atC>atG	p.I751M	MYH11_ENST00000452625.2_Missense_Mutation_p.I758M|MYH11_ENST00000576790.2_Missense_Mutation_p.I751M|MYH11_ENST00000396324.3_Missense_Mutation_p.I758M	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	751	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.I758M(1)|p.I751M(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCAGGGCTTTGATCTGCAAAA	0.522			T	CBFB	AML																																	uc002ddy.2				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(2251-2253)ATC>ATG		smooth muscle myosin heavy chain 11 isoform							76.0	74.0	74.0					16																	15841585		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15841585G>C	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2253C>G	16.37:g.15841585G>C	ENSP00000300036:p.Ile751Met					MYH11_uc002ddv.2_Missense_Mutation_p.I758M|MYH11_uc002ddw.2_Missense_Mutation_p.I751M|MYH11_uc002ddx.2_Missense_Mutation_p.I758M|MYH11_uc010bvg.2_Missense_Mutation_p.I583M	p.I751M	NM_002474	NP_002465	P35749	MYH11_HUMAN			19	2360	-			751			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2253C>G	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.935689	0.52972	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.46	4.3	0.51218	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.84202	0.5420	L	0.39467	1.215	0.80722	D	1	P;B;B;B;B	0.45212	0.853;0.075;0.014;0.075;0.014	P;B;B;B;B	0.48400	0.576;0.356;0.356;0.356;0.356	D	0.84128	0.0410	10	0.59425	D	0.04	.	8.4019	0.32592	0.1335:0.1504:0.7161:0.0	.	758;751;758;751;758	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	M	751;751;758;758;758	ENSP00000300036:I751M;ENSP00000345136:I751M;ENSP00000379616:I758M;ENSP00000407821:I758M	ENSP00000300036:I751M	I	-	3	3	MYH11	15749086	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.167000	0.42415	2.565000	0.86533	0.561000	0.74099	ATC		PASS	0.522	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		22	95	22	95	---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16110447	16110447	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr16:16110447C>T	ENST00000399410.3	+	5	759	c.584C>T	c.(583-585)tCa>tTa	p.S195L	ABCC1_ENST00000346370.5_Missense_Mutation_p.S195L|ABCC1_ENST00000349029.5_Missense_Mutation_p.S195L|ABCC1_ENST00000399408.2_Missense_Mutation_p.S195L|ABCC1_ENST00000351154.5_Missense_Mutation_p.S195L|ABCC1_ENST00000345148.5_Missense_Mutation_p.S195L	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	195					arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.S195L(1)		breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	TCAGATCGCTCACCCCTGTTC	0.502																																						uc010bvi.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(583-585)TCA>TTA		ATP-binding cassette, sub-family C, member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						327.0	309.0	315.0					16																	16110447		2057	4203	6260	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16110447C>T	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.584C>T	16.37:g.16110447C>T	ENSP00000382342:p.Ser195Leu					ABCC1_uc010bvj.2_Missense_Mutation_p.S195L|ABCC1_uc010bvk.2_Missense_Mutation_p.S195L|ABCC1_uc010bvl.2_Missense_Mutation_p.S195L|ABCC1_uc010bvm.2_Missense_Mutation_p.S195L|ABCC1_uc002del.3_Missense_Mutation_p.S79L|ABCC1_uc010bvn.2_Missense_Mutation_p.S58L	p.S195L	NM_004996	NP_004987	P33527	MRP1_HUMAN			5	759	+			195			Cytoplasmic.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.584C>T	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	C	9.764	1.170852	0.21621	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029	T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15	4.94	2.98	0.34508	.	0.569476	0.17384	N	0.176190	T	0.26448	0.0646	L	0.31420	0.93	0.09310	N	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.001;0.0;0.002	T	0.18650	-1.0330	10	0.51188	T	0.08	0.0472	10.4792	0.44682	0.0:0.8407:0.0:0.1593	.	195;195;195;195;195;195;195	P33527-6;P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;.;MRP1_HUMAN;.	L	195	ENSP00000382342:S195L;ENSP00000382340:S195L;ENSP00000263019:S195L;ENSP00000263017:S195L;ENSP00000263014:S195L;ENSP00000263016:S195L	ENSP00000263014:S195L	S	+	2	0	ABCC1	16017948	0.905000	0.30787	0.034000	0.17996	0.297000	0.27493	2.522000	0.45572	0.499000	0.27970	0.638000	0.83543	TCA		PASS	0.502	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		166	508	166	508	---	---	---	---
CLN3	1201	broad.mit.edu	37	16	28497729	28497729	+	Missense_Mutation	SNP	C	C	T	rs370603922		TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr16:28497729C>T	ENST00000569430.1	-	10	1435	c.616G>A	c.(616-618)Ggc>Agc	p.G206S	CLN3_ENST00000357857.9_Missense_Mutation_p.G152S|CLN3_ENST00000360019.2_Missense_Mutation_p.G206S|CLN3_ENST00000535392.1_Missense_Mutation_p.G128S|CLN3_ENST00000355477.5_Intron|CLN3_ENST00000395653.4_Missense_Mutation_p.G106S|CLN3_ENST00000359984.7_Missense_Mutation_p.G206S|CLN3_ENST00000333496.9_Missense_Mutation_p.G182S|CLN3_ENST00000568224.1_Missense_Mutation_p.G128S|CLN3_ENST00000357806.7_Intron|CLN3_ENST00000567963.1_Missense_Mutation_p.G206S|CLN3_ENST00000354630.5_Missense_Mutation_p.G206S|CLN3_ENST00000357076.5_Intron|CLN3_ENST00000565316.1_Missense_Mutation_p.G206S			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	206					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)	p.G206S(2)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GGGGAGAGGCCGGCCTGGGTG	0.687													.|||	1	0.000199681	0.0	0.0014	5008	,	,		19236	0.0		0.0	False		,,,				2504	0.0					uc002dpo.2																			2	Substitution - Missense(2)		lung(2)		0						c.(616-618)GGC>AGC		ceroid-lipofuscinosis, neuronal 3		C	SER/GLY,SER/GLY	1,4389	2.1+/-5.4	0,1,2194	24.0	28.0	27.0		616,616	5.6	1.0	16		27	0,8600		0,0,4300	no	missense,missense	CLN3	NM_000086.2,NM_001042432.1	56,56	0,1,6494	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging	206/439,206/439	28497729	1,12989	2195	4300	6495	SO:0001583	missense	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28497729C>T	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.616G>A	16.37:g.28497729C>T	ENSP00000454229:p.Gly206Ser					uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.G128S|CLN3_uc010vcu.1_Missense_Mutation_p.G106S|CLN3_uc002dpn.2_Intron|CLN3_uc002dpm.2_Missense_Mutation_p.G152S|CLN3_uc010vcv.1_Missense_Mutation_p.G182S|CLN3_uc010byd.2_Missense_Mutation_p.G206S|CLN3_uc002dpp.2_Missense_Mutation_p.G206S|CLN3_uc002dpt.1_Missense_Mutation_p.G106S|CLN3_uc002dpq.1_Intron|CLN3_uc010bye.1_Missense_Mutation_p.G206S|CLN3_uc002dpr.1_Intron|CLN3_uc010byf.1_Intron|CLN3_uc002dps.1_Intron|CLN3_uc002dpu.1_Intron|CLN3_uc002dpw.1_Intron|CLN3_uc010vcw.1_Missense_Mutation_p.G152S|CLN3_uc002dqa.2_Missense_Mutation_p.G257S|CLN3_uc010vcx.1_Missense_Mutation_p.G106S|CLN3_uc002dpx.1_Intron|CLN3_uc002dpy.1_Intron|CLN3_uc002dpz.1_RNA	p.G206S	NM_000086	NP_000077	Q13286	CLN3_HUMAN			8	939	-			206					B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	c.616G>A	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237886	0.79800	2.28E-4	0.0	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000357857;ENST00000395653	T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23	5.6	5.6	0.85130	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.79947	0.4534	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0;0.994	T	0.80928	-0.1163	10	0.41790	T	0.15	-20.6091	17.1168	0.86691	0.0:1.0:0.0:0.0	.	106;182;206;206;257;106;206	B4DFT5;B4DXL3;Q13286-3;Q13286-4;B4DIA8;B4DMY6;Q13286	.;.;.;.;.;.;CLN3_HUMAN	S	128;206;206;206;152;106	ENSP00000443221:G128S;ENSP00000353073:G206S;ENSP00000353116:G206S;ENSP00000346650:G206S;ENSP00000350523:G152S;ENSP00000379014:G106S	ENSP00000346650:G206S	G	-	1	0	CLN3	28405230	1.000000	0.71417	0.986000	0.45419	0.163000	0.22366	6.412000	0.73303	2.654000	0.90174	0.651000	0.88453	GGC		PASS	0.687	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			28	21	28	21	---	---	---	---
SH2B1	25970	broad.mit.edu	37	16	28856350	28856350	+	5'Flank	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr16:28856350G>A	ENST00000322610.8	+	0	0				MIR4721_ENST00000577590.1_RNA|TUFM_ENST00000313511.3_Silent_p.L147L			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.L147L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TGCAGCCGTCGAGGGGTGCAG	0.542																																						uc002drh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(439-441)CTC>CTT		Tu translation elongation factor, mitochondrial							55.0	57.0	56.0					16																	28856350		2197	4300	6497	SO:0001631	upstream_gene_variant	7284					mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr16:28856350G>A	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28856350G>A	Exception_encountered					uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank	p.L147L	NM_003321	NP_003312	P49411	EFTU_HUMAN			4	580	-			144					A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Silent	SNP	ENST00000322610.8	37	c.441C>T	CCDS53996.1																																																																																				PASS	0.542	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503		22	44	22	44	---	---	---	---
ZNF319	57567	broad.mit.edu	37	16	58030723	58030723	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr16:58030723C>T	ENST00000299237.2	-	2	2069	c.1447G>A	c.(1447-1449)Gag>Aag	p.E483K	USB1_ENST00000561743.1_5'Flank	NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	483					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.E483K(1)		large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						AGTGGCTTCTCGCGGGCCGGA	0.642																																						uc002emx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1447-1449)GAG>AAG		zinc finger protein 319							38.0	35.0	36.0					16																	58030723		2198	4300	6498	SO:0001583	missense	57567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:58030723C>T	AB037809	CCDS32462.1	16q21	2013-01-08				ENSG00000166188		"""Zinc fingers, C2H2-type"""	13644	protein-coding gene	gene with protein product						10718198, 11161788	Standard	XM_005256069		Approved	KIAA1388, Zfp319	uc002emx.1	Q9P2F9		ENST00000299237.2:c.1447G>A	16.37:g.58030723C>T	ENSP00000299237:p.Glu483Lys						p.E483K	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN			2	2070	-			483					Q52LH8	Missense_Mutation	SNP	ENST00000299237.2	37	c.1447G>A	CCDS32462.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287134	0.59867	.	.	ENSG00000166188	ENST00000299237	T	0.04275	3.66	5.21	5.21	0.72293	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.13927	0.0337	L	0.31664	0.95	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.02837	-1.1104	10	0.59425	D	0.04	-22.3897	17.7439	0.88414	0.0:1.0:0.0:0.0	.	483	Q9P2F9	ZN319_HUMAN	K	483	ENSP00000299237:E483K	ENSP00000299237:E483K	E	-	1	0	ZNF319	56588224	1.000000	0.71417	0.931000	0.37212	0.007000	0.05969	7.805000	0.86005	2.423000	0.82170	0.655000	0.94253	GAG		PASS	0.642	ZNF319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430317.1			7	15	7	15	---	---	---	---
C16orf70	80262	broad.mit.edu	37	16	67184165	67184165	+	IGR	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr16:67184165G>A	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Missense_Mutation_p.P75L	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70									p.P75L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		AGGCGTGGGCGGCGCCGGTGT	0.716																																						uc002erf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(223-225)CCG>CTG		UDP-GlcNAc:betaGal							11.0	14.0	13.0					16																	67184165		1852	4048	5900	SO:0001628	intergenic_variant	84752				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr16:67184165G>A	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67184165G>A						uc002erg.1_3'UTR	p.P75L	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN			2	545	-			75			Lumenal (Potential).		Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.224C>T	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	g	15.67	2.901358	0.52227	.	.	ENSG00000237172	ENST00000449549	T	0.28069	1.63	4.75	4.75	0.60458	.	.	.	.	.	T	0.22085	0.0532	L	0.27053	0.805	0.31636	N	0.64838	P	0.51653	0.947	B	0.38378	0.272	T	0.16600	-1.0397	9	0.48119	T	0.1	-2.3669	14.4603	0.67445	0.0:0.0:1.0:0.0	.	75	Q6UX72	B3GN9_HUMAN	L	75	ENSP00000400157:P75L	ENSP00000400157:P75L	P	-	2	0	B3GNT9	65741666	0.999000	0.42202	0.535000	0.28026	0.087000	0.18053	5.349000	0.66010	2.172000	0.68678	0.457000	0.33378	CCG		PASS	0.716	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187		14	33	14	33	---	---	---	---
ZFP90	146198	broad.mit.edu	37	16	68598214	68598214	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr16:68598214G>C	ENST00000570495.1	+	5	1816	c.1524G>C	c.(1522-1524)agG>agC	p.R508S	ZFP90_ENST00000563169.2_Missense_Mutation_p.R508S|ZFP90_ENST00000398253.2_Missense_Mutation_p.R508S			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	508					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.R508S(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CTTTCAAAAGGAGTACAAGTT	0.418																																						uc010cff.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1522-1524)AGG>AGC		zinc finger protein 90							71.0	77.0	75.0					16																	68598214		2187	4296	6483	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598214G>C	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1524G>C	16.37:g.68598214G>C	ENSP00000460547:p.Arg508Ser					ZFP90_uc002ewb.2_3'UTR|ZFP90_uc002ewc.2_3'UTR|ZFP90_uc002ewd.2_Missense_Mutation_p.R508S|ZFP90_uc002ewe.2_Missense_Mutation_p.R508S	p.R508S	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	1816	+		Ovarian(137;0.192)	508			C2H2-type 9.		B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.1524G>C	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	G	7.349	0.622400	0.14193	.	.	ENSG00000184939	ENST00000398253	T	0.16743	2.32	5.85	0.606	0.17559	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18257	0.0438	L	0.31578	0.945	0.09310	N	1	D	0.56746	0.977	P	0.53760	0.734	T	0.24905	-1.0147	9	0.22109	T	0.4	-11.264	10.0875	0.42428	0.4285:0.0:0.5715:0.0	.	508	Q8TF47	ZFP90_HUMAN	S	508	ENSP00000381304:R508S	ENSP00000381304:R508S	R	+	3	2	ZFP90	67155715	0.000000	0.05858	0.997000	0.53966	0.960000	0.62799	-0.452000	0.06787	-0.006000	0.14370	-0.797000	0.03246	AGG		PASS	0.418	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		13	67	13	67	---	---	---	---
CHST4	10164	broad.mit.edu	37	16	71570713	71570713	+	Missense_Mutation	SNP	G	G	A	rs549854802	byFrequency	TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr16:71570713G>A	ENST00000338482.5	+	3	476	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.V45M|CHST4_ENST00000572450.1_Missense_Mutation_p.V45M			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	45					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.V45M(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GCGCATGCACGTGCTGGTTCT	0.552													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		18894	0.0		0.0	False		,,,				2504	0.0					uc002fan.2																			1	Substitution - Missense(1)		lung(1)		0						c.(133-135)GTG>ATG		carbohydrate (N-acetylglucosamine 6-O)							136.0	127.0	130.0					16																	71570713		2198	4300	6498	SO:0001583	missense	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71570713G>A	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.133G>A	16.37:g.71570713G>A	ENSP00000341206:p.Val45Met					CHST4_uc002fao.2_Missense_Mutation_p.V45M	p.V45M	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN			2	314	+			45			Lumenal (Potential).		Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.133G>A	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724597	0.68959	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.85339	-1.97;-1.97	6.0	5.04	0.67666	Sulfotransferase domain (1);	0.065979	0.64402	D	0.000011	D	0.92721	0.7686	M	0.89904	3.07	0.30999	N	0.720533	D	0.89917	1.0	D	0.81914	0.995	D	0.91974	0.5589	10	0.87932	D	0	-3.3777	10.1424	0.42742	0.0:0.1487:0.6969:0.1544	.	45	Q8NCG5	CHST4_HUMAN	M	45	ENSP00000341206:V45M;ENSP00000441204:V45M	ENSP00000341206:V45M	V	+	1	0	CHST4	70128214	1.000000	0.71417	0.913000	0.36048	0.920000	0.55202	3.808000	0.55598	1.522000	0.49001	0.655000	0.94253	GTG		PASS	0.552	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		5	108	5	108	---	---	---	---
DPEP1	1800	broad.mit.edu	37	16	89704569	89704569	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr16:89704569G>A	ENST00000393092.3	+	11	1466	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H	DPEP1_ENST00000421184.1_Missense_Mutation_p.R392H|DPEP1_ENST00000261615.4_Missense_Mutation_p.R392H	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	392					antibiotic metabolic process (GO:0016999)|arachidonic acid metabolic process (GO:0019369)|cellular lactam catabolic process (GO:0072340)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to nitric oxide (GO:0071732)|glutathione metabolic process (GO:0006749)|homocysteine metabolic process (GO:0050667)|leukotriene metabolic process (GO:0006691)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell migration (GO:0030336)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|dipeptidyl-peptidase activity (GO:0008239)|GPI anchor binding (GO:0034235)|metallodipeptidase activity (GO:0070573)|metalloexopeptidase activity (GO:0008235)|modified amino acid binding (GO:0072341)|zinc ion binding (GO:0008270)	p.R392H(1)		large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	AGCCTCCATCGCCACTGGGGG	0.657																																						uc010cin.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1174-1176)CGC>CAC		dipeptidase 1 precursor	Cilastatin(DB01597)						30.0	37.0	34.0					16																	89704569		2191	4287	6478	SO:0001583	missense	1800				proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr16:89704569G>A		CCDS10982.1	16q24	2011-07-22			ENSG00000015413	ENSG00000015413	3.4.13.19		3002	protein-coding gene	gene with protein product		179780					Standard	NM_004413		Approved		uc002fnr.4	P16444	OTTHUMG00000138052	ENST00000393092.3:c.1175G>A	16.37:g.89704569G>A	ENSP00000376807:p.Arg392His					DPEP1_uc002fnr.3_Missense_Mutation_p.R392H|DPEP1_uc002fns.3_Missense_Mutation_p.R392H	p.R392H	NM_001128141	NP_001121613	P16444	DPEP1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0258)	11	1378	+		all_lung(18;0.0054)|all_hematologic(23;0.094)	392					D3DX80|Q96AK2	Missense_Mutation	SNP	ENST00000393092.3	37	c.1175G>A	CCDS10982.1	.	.	.	.	.	.	.	.	.	.	g	5.840	0.339260	0.11069	.	.	ENSG00000015413	ENST00000421184;ENST00000393092;ENST00000261615	T;T;T	0.22743	1.94;1.94;1.94	4.93	-9.86	0.00473	.	1.734750	0.02427	N	0.083145	T	0.07908	0.0198	N	0.16066	0.365	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22173	-1.0224	10	0.15952	T	0.53	-24.9025	1.3445	0.02161	0.26:0.0889:0.2926:0.3584	.	392	P16444	DPEP1_HUMAN	H	392	ENSP00000397313:R392H;ENSP00000376807:R392H;ENSP00000261615:R392H	ENSP00000261615:R392H	R	+	2	0	DPEP1	88232070	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.533000	0.00942	-1.807000	0.01236	-0.471000	0.05019	CGC		PASS	0.657	DPEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423058.1	NM_001128141		28	57	28	57	---	---	---	---
KIAA0753	9851	broad.mit.edu	37	17	6499544	6499544	+	Silent	SNP	G	G	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr17:6499544G>T	ENST00000361413.3	-	15	2650	c.2292C>A	c.(2290-2292)gcC>gcA	p.A764A	KIAA0753_ENST00000589033.1_Silent_p.A220A|KIAA0753_ENST00000572370.1_Silent_p.A465A|KIAA0753_ENST00000542606.1_Silent_p.A465A|KIAA0753_ENST00000575027.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	764						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.A764A(4)		endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CCTCAACGGTGGCTAAGGTTT	0.507																																						uc002gde.3																			4	Substitution - coding silent(4)		prostate(3)|lung(1)		0						c.(2290-2292)GCC>GCA		hypothetical protein LOC9851							127.0	126.0	126.0					17																	6499544		1979	4176	6155	SO:0001819	synonymous_variant	9851					centrosome		g.chr17:6499544G>T		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.2292C>A	17.37:g.6499544G>T						KIAA0753_uc010vtd.1_Silent_p.A220A|KIAA0753_uc010clo.2_Silent_p.A465A|KIAA0753_uc010vte.1_Silent_p.A465A	p.A764A	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	15	2651	-			764					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Silent	SNP	ENST00000361413.3	37	c.2292C>A	CCDS42247.1																																																																																				PASS	0.507	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		5	132	5	132	---	---	---	---
RNASEK	440400	broad.mit.edu	37	17	6916010	6916010	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr17:6916010C>A	ENST00000548577.1	+	1	275	c.125C>A	c.(124-126)tCg>tAg	p.S42*	C17orf49_ENST00000546495.1_5'Flank|C17orf49_ENST00000546760.1_5'Flank|C17orf49_ENST00000552402.1_5'Flank|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399540.2_5'Flank|C17orf49_ENST00000552775.1_5'Flank|AC027763.2_ENST00000573939.1_5'Flank|RNASEK_ENST00000402093.1_Nonsense_Mutation_p.S3*|AC027763.2_ENST00000575727.1_5'Flank|RNASEK-C17orf49_ENST00000547302.2_5'Flank|AC040977.1_ENST00000593646.1_Missense_Mutation_p.R147L|C17orf49_ENST00000439424.2_5'Flank|AC027763.2_ENST00000399541.2_5'Flank|AC027763.2_ENST00000574377.1_5'Flank|RNASEK_ENST00000552321.1_5'Flank	NM_001004333.4	NP_001004333.2	Q6P5S7	RNK_HUMAN	ribonuclease, RNase K	42					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA transcription (GO:0009303)	integral component of membrane (GO:0016021)	endoribonuclease activity (GO:0004521)	p.R147L(1)|p.S3*(1)		lung(1)	1						TTTATGGCGTCGCTCCTGTGC	0.677																																						uc002gea.2																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)		0						c.(7-9)TCG>TAG		ribonuclease kappa							34.0	40.0	38.0					17																	6916010		1955	4145	6100	SO:0001587	stop_gained	440400				rRNA transcription	integral to membrane	endoribonuclease activity	g.chr17:6916010C>A	AK289930	CCDS45594.1, CCDS45594.2	17p13.1	2010-10-28				ENSG00000219200			33911	protein-coding gene	gene with protein product						17881363	Standard	NM_001004333		Approved	MGC71993		Q6P5S7		ENST00000548577.1:c.125C>A	17.37:g.6916010C>A	ENSP00000449500:p.Ser42*					uc002gdy.1_5'Flank|C17orf49_uc002geb.3_5'UTR|C17orf49_uc002gec.2_5'UTR|C17orf49_uc002ged.2_5'Flank|C17orf49_uc002gee.2_5'Flank|C17orf49_uc010vti.1_5'Flank	p.S3*	NM_001004333	NP_001004333	Q6P5S7	RNK_HUMAN			1	213	+			3					G3V1Z9|Q502Z2	Nonsense_Mutation	SNP	ENST00000548577.1	37	c.8C>A	CCDS45594.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.052446|6.052446	0.97236|0.97236	.|.	.|.	ENSG00000219200|ENSG00000219200	ENST00000552842|ENST00000548577;ENST00000402093	.|.	.|.	.|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	.|.	.|.	.|.	.|.	T|.	0.38506|.	0.1043|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26677|.	-1.0096|.	3|.	.|0.02654	.|T	.|1	-12.8354|-12.8354	16.2834|16.2834	0.82708|0.82708	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	S|X	16|42;3	.|.	.|ENSP00000385440:S3X	R|S	+|+	1|2	0|0	RNASEK|RNASEK	6856734|6856734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.901000|0.901000	0.52897|0.52897	6.112000|6.112000	0.71547|0.71547	2.709000|2.709000	0.92574|0.92574	0.655000|0.655000	0.94253|0.94253	CGC|TCG		PASS	0.677	RNASEK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407651.1	NM_001004333		12	28	12	28	---	---	---	---
CD68	968	broad.mit.edu	37	17	7484226	7484226	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr17:7484226C>G	ENST00000250092.6	+	5	984	c.773C>G	c.(772-774)tCg>tGg	p.S258W	MPDU1_ENST00000582151.1_5'Flank|MPDU1_ENST00000250124.6_5'Flank|MPDU1_ENST00000423172.2_5'Flank|AC113189.5_ENST00000415124.1_RNA|CD68_ENST00000380498.6_Missense_Mutation_p.S231W|AC113189.5_ENST00000417897.1_RNA|MPDU1_ENST00000396501.4_5'Flank|AC113189.5_ENST00000573187.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|SNORA67_ENST00000384423.1_RNA|AC113189.5_ENST00000572046.1_RNA	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	258					cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S258W(1)		endometrium(1)|lung(1)|skin(1)	3						TGGACATTCTCGGCTCAGAAT	0.557																																						uc002ghv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(772-774)TCG>TGG		CD68 antigen isoform A							92.0	81.0	85.0					17																	7484226		2203	4300	6503	SO:0001583	missense	968					endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane		g.chr17:7484226C>G	S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"""CD molecules"""	1693	protein-coding gene	gene with protein product	"""scavenger receptor class D, member 1"", ""CD68 antigen"", ""macrophage antigen CD68"""	153634	"""CD68 antigen"""			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.773C>G	17.37:g.7484226C>G	ENSP00000250092:p.Ser258Trp					CD68_uc002ghu.2_Missense_Mutation_p.S231W|MPDU1_uc010vub.1_5'Flank|MPDU1_uc002ghw.2_5'Flank|MPDU1_uc002ghx.2_5'Flank|MPDU1_uc010vuc.1_5'Flank	p.S258W	NM_001251	NP_001242	P34810	CD68_HUMAN			5	964	+			258			Extracellular (Potential).		B4DVT4|Q53HR6|Q53XI3|Q96BI7	Missense_Mutation	SNP	ENST00000250092.6	37	c.773C>G	CCDS11114.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.276326	0.23307	.	.	ENSG00000129226	ENST00000250092;ENST00000380498	T	0.37235	1.21	5.15	-0.443	0.12249	.	0.840214	0.10210	N	0.702288	T	0.51466	0.1676	M	0.73598	2.24	0.24165	N	0.995643	D;D	0.76494	0.999;0.999	D;D	0.66847	0.947;0.947	T	0.38265	-0.9669	10	0.72032	D	0.01	-0.0057	4.1555	0.10258	0.153:0.5129:0.0:0.334	.	258;231	P34810;B4DVT4	CD68_HUMAN;.	W	258;201	ENSP00000250092:S258W	ENSP00000250092:S258W	S	+	2	0	CD68	7424950	0.042000	0.20092	0.004000	0.12327	0.866000	0.49608	0.051000	0.14141	-0.158000	0.11040	0.650000	0.86243	TCG		PASS	0.557	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226949.3	NM_001251		26	65	26	65	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr17:7577127C>T	ENST00000269305.4	-	8	1000	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_ENST00000420246.2_Missense_Mutation_p.E271K|TP53_ENST00000445888.2_Missense_Mutation_p.E271K|TP53_ENST00000359597.4_Missense_Mutation_p.E271K|TP53_ENST00000455263.2_Missense_Mutation_p.E271K|TP53_ENST00000413465.2_Intron|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	271	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma with no family history; germline mutation and 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.E271K(28)|p.E271*(18)|p.0?(8)|p.E271Q(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.E271P(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.E271del(1)|p.S269fs*34(1)|p.F270_D281del12(1)|p.E271fs*34(1)|p.E271fs*35(1)|p.E271_R273delEVR(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)	ACACGCACCTCAAAGCTGTTC	0.537		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		74	Substitution - Missense(34)|Substitution - Nonsense(18)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)|Insertion - Frameshift(1)	p.E271K(22)|p.E271*(14)|p.0?(7)|p.E271V(5)|p.E271Q(3)|p.E271G(3)|p.E271D(3)|p.?(2)|p.G266_E271delGRNSFE(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(1)	urinary_tract(16)|lung(10)|oesophagus(7)|breast(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(5)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|stomach(3)|central_nervous_system(3)|ovary(2)|cervix(1)|biliary_tract(1)|salivary_gland(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(811-813)GAG>AAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							58.0	51.0	54.0					17																	7577127		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577127C>T	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.811G>A	17.37:g.7577127C>T	ENSP00000269305:p.Glu271Lys	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_Intron|TP53_uc002gih.2_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K	p.E271K	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1005	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	271		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> A (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.811G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	35	5.512978	0.96402	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.993;0.999;1.0	D	0.96522	0.9386	10	0.87932	D	0	-38.0695	16.1198	0.81342	0.0:1.0:0.0:0.0	.	271;271;271;271	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	271;271;271;271;271;260;139	ENSP00000352610:E271K;ENSP00000269305:E271K;ENSP00000398846:E271K;ENSP00000391127:E271K;ENSP00000391478:E271K;ENSP00000425104:E139K	ENSP00000269305:E271K	E	-	1	0	TP53	7517852	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GAG		PASS	0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	20	12	20	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11711192	11711192	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr17:11711192A>C	ENST00000262442.4	+	44	8632	c.8564A>C	c.(8563-8565)tAc>tCc	p.Y2855S	DNAH9_ENST00000454412.2_Missense_Mutation_p.Y2855S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2855	AAA 4. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.Y2855S(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CGCAAAGGCTACCAGATCCAG	0.562																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(8563-8565)TAC>TCC		dynein, axonemal, heavy chain 9 isoform 2							62.0	55.0	57.0					17																	11711192		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11711192A>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8564A>C	17.37:g.11711192A>C	ENSP00000262442:p.Tyr2855Ser					DNAH9_uc010coo.2_Missense_Mutation_p.Y2149S	p.Y2855S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	44	8632	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2855			AAA 4 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.8564A>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.182832	0.78677	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.56941	0.43;0.43	5.2	5.2	0.72013	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.82029	0.4948	H	0.98005	4.125	0.80722	D	1	D	0.67145	0.996	D	0.69479	0.964	D	0.89056	0.3459	10	0.87932	D	0	.	15.1409	0.72609	1.0:0.0:0.0:0.0	.	2855	Q9NYC9	DYH9_HUMAN	S	2855;2855;1437	ENSP00000262442:Y2855S;ENSP00000414874:Y2855S	ENSP00000262442:Y2855S	Y	+	2	0	DNAH9	11651917	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.287000	0.95975	1.973000	0.57446	0.529000	0.55759	TAC		PASS	0.562	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		3	38	3	38	---	---	---	---
TUBG2	27175	broad.mit.edu	37	17	40818455	40818455	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr17:40818455C>A	ENST00000251412.7	+	10	1310	c.1111C>A	c.(1111-1113)Cac>Aac	p.H371N	PLEKHH3_ENST00000456950.2_5'Flank	NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	371					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.H371N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		GCCCTCGGCCCACCGGGTCAG	0.607																																						uc010wgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1111-1113)CAC>AAC		tubulin, gamma 2							73.0	76.0	75.0					17																	40818455		2203	4297	6500	SO:0001583	missense	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40818455C>A	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.1111C>A	17.37:g.40818455C>A	ENSP00000251412:p.His371Asn					TUBG2_uc002iaq.2_Missense_Mutation_p.H213N|TUBG2_uc002iar.2_Missense_Mutation_p.H218N|TUBG2_uc002ias.2_Missense_Mutation_p.H213N|TUBG2_uc002iap.2_Missense_Mutation_p.H218N	p.H371N	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	10	1367	+		Breast(137;0.00116)	371					A6NDI4|Q32NB2	Missense_Mutation	SNP	ENST00000251412.7	37	c.1111C>A	CCDS32658.1	.	.	.	.	.	.	.	.	.	.	C	6.877	0.531288	0.13127	.	.	ENSG00000037042	ENST00000251412	T	0.81163	-1.46	5.73	4.75	0.60458	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73636	0.3612	L	0.27975	0.815	0.80722	D	1	B	0.22480	0.07	B	0.27796	0.083	T	0.70927	-0.4739	10	0.62326	D	0.03	-37.2583	16.7377	0.85451	0.0:0.8706:0.1294:0.0	.	371	Q9NRH3	TBG2_HUMAN	N	371	ENSP00000251412:H371N	ENSP00000251412:H371N	H	+	1	0	TUBG2	38071981	1.000000	0.71417	1.000000	0.80357	0.016000	0.09150	7.594000	0.82698	1.409000	0.46915	-0.175000	0.13238	CAC		PASS	0.607	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437		13	169	13	169	---	---	---	---
CD300A	11314	broad.mit.edu	37	17	72469886	72469886	+	Silent	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr17:72469886C>G	ENST00000360141.3	+	2	540	c.252C>G	c.(250-252)ctC>ctG	p.L84L	CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000310828.5_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	84	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)	p.L84L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						CTGCAAACCTCAGCTTCACAG	0.532																																						uc002jkv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(250-252)CTC>CTG		leukocyte membrane antigen							157.0	140.0	146.0					17																	72469886		2203	4300	6503	SO:0001819	synonymous_variant	11314				cell adhesion	integral to membrane|plasma membrane	receptor activity	g.chr17:72469886C>G	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.252C>G	17.37:g.72469886C>G						CD300A_uc002jkw.2_Intron|CD300A_uc010dfr.2_Intron|CD300A_uc010dfs.2_Intron	p.L84L	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN			2	573	+			84			Extracellular (Potential).|Ig-like V-type.		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Silent	SNP	ENST00000360141.3	37	c.252C>G	CCDS32720.1																																																																																				PASS	0.532	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261		3	119	3	119	---	---	---	---
ENPP7	339221	broad.mit.edu	37	17	77710932	77710932	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr17:77710932C>A	ENST00000328313.5	+	4	1340	c.1119C>A	c.(1117-1119)ttC>ttA	p.F373L		NM_178543.3	NP_848638.3			ectonucleotide pyrophosphatase/phosphodiesterase 7									p.F373L(5)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCCTAGCTTCAGGGCGGGCC	0.607																																						uc002jxa.2																			5	Substitution - Missense(5)		prostate(3)|lung(1)|kidney(1)	central_nervous_system(2)|ovary(1)	3						c.(1117-1119)TTC>TTA		ectonucleotide pyrophosphatase/phosphodiesterase							88.0	77.0	81.0					17																	77710932		2203	4300	6503	SO:0001583	missense	339221				negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	g.chr17:77710932C>A	AY230663	CCDS11763.1	17q25.3	2014-04-09			ENSG00000182156	ENSG00000182156			23764	protein-coding gene	gene with protein product	"""alkaline sphingomyelinase"""					12885774	Standard	NM_178543		Approved	alk-SMase, NPP7	uc002jxa.3	Q6UWV6	OTTHUMG00000177462	ENST00000328313.5:c.1119C>A	17.37:g.77710932C>A	ENSP00000332656:p.Phe373Leu						p.F373L	NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		4	1139	+			373						Missense_Mutation	SNP	ENST00000328313.5	37	c.1119C>A	CCDS11763.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.659878	0.47572	.	.	ENSG00000182156	ENST00000328313	T	0.77098	-1.07	3.51	1.46	0.22682	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.83514	0.5271	M	0.73753	2.245	0.47407	D	0.999417	D	0.69078	0.997	D	0.66602	0.945	T	0.81647	-0.0838	10	0.87932	D	0	-40.2165	7.3343	0.26601	0.0:0.7189:0.0:0.2811	.	373	Q6UWV6	ENPP7_HUMAN	L	373	ENSP00000332656:F373L	ENSP00000332656:F373L	F	+	3	2	ENPP7	75325527	0.080000	0.21391	0.462000	0.27118	0.362000	0.29581	0.588000	0.23924	0.299000	0.22661	0.561000	0.74099	TTC		PASS	0.607	ENPP7-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437038.1	NM_178543		5	104	5	104	---	---	---	---
TCEB3C	162699	broad.mit.edu	37	18	44554593	44554593	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr18:44554593C>G	ENST00000330682.2	-	1	1856	c.1621G>C	c.(1621-1623)Gga>Cga	p.G541R	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	541					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G541R(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GAGAATCTTCCCTTGTAGTCT	0.577																																						uc010xdb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1621-1623)GGA>CGA		transcription elongation factor B polypeptide							100.0	107.0	105.0					18																	44554593		1741	3304	5045	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44554593C>G	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1621G>C	18.37:g.44554593C>G	ENSP00000328232:p.Gly541Arg					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.G541R	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			1	1857	-			541						Missense_Mutation	SNP	ENST00000330682.2	37	c.1621G>C	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	c	1.465	-0.561316	0.03939	.	.	ENSG00000183791	ENST00000330682	T	0.11169	2.8	1.35	-2.71	0.05986	.	2.420760	0.02588	N	0.099679	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35051	-0.9804	10	0.10636	T	0.68	0.3167	6.3043	0.21129	0.0:0.5753:0.0:0.4247	.	541	Q8NG57	ELOA3_HUMAN	R	541	ENSP00000328232:G541R	ENSP00000328232:G541R	G	-	1	0	TCEB3C	42808591	0.693000	0.27728	0.000000	0.03702	0.001000	0.01503	0.178000	0.16820	-1.096000	0.03046	-1.473000	0.01005	GGA		PASS	0.577	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1	NM_145653		10	680	10	680	---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48604754	48604754	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr18:48604754G>T	ENST00000342988.3	+	12	2114	c.1576G>T	c.(1576-1578)Gaa>Taa	p.E526*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E430*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E526*|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	526	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.E526*(3)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TTGCTGGATTGAAATTCACTT	0.488																																						uc010xdp.1																			41	Whole gene deletion(36)|Substitution - Nonsense(3)|Unknown(2)	p.0?(35)|p.?(2)|p.E526*(2)	pancreas(26)|upper_aerodigestive_tract(3)|large_intestine(3)|lung(3)|breast(3)|stomach(2)|oesophagus(1)	pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369						c.(1576-1578)GAA>TAA		mothers against decapentaplegic homolog 4							90.0	88.0	89.0					18																	48604754		2203	4300	6503	SO:0001587	stop_gained	4089	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604754G>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1576G>T	18.37:g.48604754G>T	ENSP00000341551:p.Glu526*					SMAD4_uc002lfb.3_Nonsense_Mutation_p.E371*	p.E526*	NM_005359	NP_005350	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2114	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	526			MH2.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.1576G>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	42	9.522520	0.99195	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	.	.	.	6.08	6.08	0.98989	.	0.094045	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4362	0.94796	0.0:0.0:1.0:0.0	.	.	.	.	X	526	.	ENSP00000341551:E526X	E	+	1	0	SMAD4	46858752	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.633000	0.98432	2.890000	0.99128	0.655000	0.94253	GAA		PASS	0.488	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		15	31	15	31	---	---	---	---
S1PR4	8698	broad.mit.edu	37	19	3179147	3179147	+	Silent	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr19:3179147C>T	ENST00000246115.3	+	1	412	c.357C>T	c.(355-357)ttC>ttT	p.F119F	S1PR4_ENST00000591346.1_Intron	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	119					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)	p.F119F(2)		breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CCCAGTGGTTCCTACGGGAGG	0.697																																					GBM(82;318 1638 33279 49708)	uc002lxg.2																			2	Substitution - coding silent(2)		lung(2)	lung(1)|skin(1)	2						c.(355-357)TTC>TTT		sphingosine-1-phosphate receptor 4 precursor							29.0	30.0	30.0					19																	3179147		2186	4273	6459	SO:0001819	synonymous_variant	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179147C>T	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.357C>T	19.37:g.3179147C>T							p.F119F	NM_003775	NP_003766	O95977	S1PR4_HUMAN			1	382	+			119			Helical; Name=3; (By similarity).		D6W612	Silent	SNP	ENST00000246115.3	37	c.357C>T	CCDS12105.1																																																																																				PASS	0.697	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		15	89	15	89	---	---	---	---
SLC25A41	284427	broad.mit.edu	37	19	6433624	6433624	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr19:6433624G>C	ENST00000321510.6	-	1	149	c.81C>G	c.(79-81)atC>atG	p.I27M	SLC25A23_ENST00000601760.1_5'Flank	NM_173637.3	NP_775908.2			solute carrier family 25, member 41									p.I27M(1)		large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						gcggggCTTTGATGAGTAAGG	0.577																																						uc010dus.2																			1	Substitution - Missense(1)		lung(1)		0						c.(79-81)ATC>ATG		solute carrier family 25, member 41							52.0	51.0	52.0					19																	6433624		1898	4108	6006	SO:0001583	missense	284427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr19:6433624G>C	AK097761	CCDS45937.1	19p13.3	2013-05-22			ENSG00000181240	ENSG00000181240		"""Solute carriers"""	28533	protein-coding gene	gene with protein product		610822				16949250	Standard	NM_173637		Approved	FLJ40442, MGC34725, APC4	uc010dus.3	Q8N5S1		ENST00000321510.6:c.81C>G	19.37:g.6433624G>C	ENSP00000322649:p.Ile27Met					SLC25A41_uc010dut.2_Translation_Start_Site	p.I27M	NM_173637	NP_775908	Q8N5S1	S2541_HUMAN			1	167	-			27						Missense_Mutation	SNP	ENST00000321510.6	37	c.81C>G	CCDS45937.1	.	.	.	.	.	.	.	.	.	.	G	3.133	-0.177927	0.06380	.	.	ENSG00000181240	ENST00000321510;ENST00000458275	T;T	0.80214	-1.35;1.25	2.89	-1.15	0.09709	.	1.098820	0.07168	U	0.851943	T	0.60457	0.2270	N	0.08118	0	0.09310	N	1	B	0.25955	0.138	B	0.22753	0.041	T	0.51616	-0.8683	10	0.62326	D	0.03	.	5.7479	0.18130	0.0:0.4327:0.3651:0.2022	.	27	Q8N5S1	S2541_HUMAN	M	27	ENSP00000322649:I27M;ENSP00000405411:I27M	ENSP00000322649:I27M	I	-	3	3	SLC25A41	6384624	0.114000	0.22134	0.000000	0.03702	0.033000	0.12548	0.458000	0.21892	-0.076000	0.12775	0.306000	0.20318	ATC		PASS	0.577	SLC25A41-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462222.1	NM_173637		6	38	6	38	---	---	---	---
S1PR5	53637	broad.mit.edu	37	19	10624743	10624743	+	Silent	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr19:10624743G>A	ENST00000439028.3	-	2	1070	c.945C>T	c.(943-945)caC>caT	p.H315H	S1PR5_ENST00000333430.4_Silent_p.H315H	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	315					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)	p.H315H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	GCAGGAGCGCGTGGCGCAGGT	0.682																																						uc002mot.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(943-945)CAC>CAT		endothelial differentiation, sphingolipid							30.0	31.0	31.0					19																	10624743		2201	4300	6501	SO:0001819	synonymous_variant	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10624743G>A	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.945C>T	19.37:g.10624743G>A						S1PR5_uc002mou.1_Silent_p.H315H	p.H315H	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN			2	1002	-			315			Cytoplasmic (By similarity).		Q6NW11	Silent	SNP	ENST00000439028.3	37	c.945C>T	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	G	0.710	-0.787428	0.02907	.	.	ENSG00000180739	ENST00000359134	.	.	.	5.11	-1.71	0.08133	.	.	.	.	.	T	0.47395	0.1443	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52697	-0.8541	5	0.87932	D	0	.	0.8547	0.01180	0.222:0.218:0.3385:0.2214	.	.	.	.	C	284	.	ENSP00000352045:R284C	R	-	1	0	S1PR5	10485743	0.015000	0.18098	0.151000	0.22473	0.117000	0.20001	-0.991000	0.03728	-0.054000	0.13266	0.491000	0.48974	CGC		PASS	0.682	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1	NM_030760		11	60	11	60	---	---	---	---
ZSWIM4	65249	broad.mit.edu	37	19	13930269	13930269	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr19:13930269C>G	ENST00000254323.2	+	9	1861	c.1672C>G	c.(1672-1674)Ccg>Gcg	p.P558A	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.P392A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	558							zinc ion binding (GO:0008270)	p.P558A(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GCCTCATGACCCGGACCTGGC	0.672																																						uc002mxh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1672-1674)CCG>GCG		zinc finger, SWIM-type containing 4							49.0	31.0	37.0					19																	13930269		2203	4300	6503	SO:0001583	missense	65249						zinc ion binding	g.chr19:13930269C>G	AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.1672C>G	19.37:g.13930269C>G	ENSP00000254323:p.Pro558Ala					ZSWIM4_uc010xng.1_Missense_Mutation_p.P481A	p.P558A	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)		9	1861	+			558						Missense_Mutation	SNP	ENST00000254323.2	37	c.1672C>G	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	C	6.332	0.429398	0.11987	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.39997	1.05;1.05	3.87	3.87	0.44632	.	0.278603	0.24476	N	0.038186	T	0.20251	0.0487	N	0.14661	0.345	0.33941	D	0.643296	B;B	0.13594	0.008;0.006	B;B	0.14023	0.009;0.01	T	0.20207	-1.0282	10	0.05620	T	0.96	-35.7183	8.7788	0.34778	0.2253:0.7747:0.0:0.0	.	392;558	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	A	558;392	ENSP00000254323:P558A;ENSP00000405278:P392A	ENSP00000254323:P558A	P	+	1	0	ZSWIM4	13791269	1.000000	0.71417	0.979000	0.43373	0.819000	0.46315	2.481000	0.45215	2.025000	0.59659	0.485000	0.47835	CCG		PASS	0.672	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342		4	21	4	21	---	---	---	---
PKN1	5585	broad.mit.edu	37	19	14580255	14580255	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr19:14580255C>A	ENST00000242783.6	+	16	2244	c.2079C>A	c.(2077-2079)ttC>ttA	p.F693L	PKN1_ENST00000342216.4_Missense_Mutation_p.F699L	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	693	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.F693L(1)|p.F693F(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						ACGTGTGCTTCGTGATGGAGT	0.627																																					NSCLC(185;2539 2965 10733 52867)	uc002myp.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(2077-2079)TTC>TTA		protein kinase N1 isoform 2							104.0	117.0	113.0					19																	14580255		2128	4237	6365	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14580255C>A	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2079C>A	19.37:g.14580255C>A	ENSP00000242783:p.Phe693Leu					PKN1_uc002myq.2_Missense_Mutation_p.F699L|PKN1_uc002myr.2_Missense_Mutation_p.F33L	p.F693L	NM_002741	NP_002732	Q16512	PKN1_HUMAN			16	2247	+			693			Protein kinase.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.2079C>A	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.972656	0.74246	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.14893	2.47;2.47	4.07	-2.42	0.06542	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	T	0.06050	0.0157	N	0.02181	-0.65	0.33003	D	0.52645	P;P	0.42203	0.732;0.773	B;B	0.41332	0.241;0.354	T	0.33292	-0.9874	10	0.87932	D	0	-14.1982	9.3358	0.38049	0.0:0.303:0.0:0.697	.	699;693	Q16512-2;Q16512	.;PKN1_HUMAN	L	693;699	ENSP00000242783:F693L;ENSP00000343325:F699L	ENSP00000242783:F693L	F	+	3	2	PKN1	14441255	0.256000	0.24012	0.988000	0.46212	0.980000	0.70556	-0.531000	0.06171	-0.484000	0.06763	-0.339000	0.08088	TTC		PASS	0.627	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		4	277	4	277	---	---	---	---
SLC27A1	376497	broad.mit.edu	37	19	17581502	17581502	+	Silent	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr19:17581502G>C	ENST00000252595.7	+	1	250	c.153G>C	c.(151-153)gcG>gcC	p.A51A	SLC27A1_ENST00000442725.1_Silent_p.A51A|SLC27A1_ENST00000598424.1_5'UTR	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	51					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.A51A(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCAAGACCGCGAGGCGAGACC	0.741																																						uc002ngu.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(151-153)GCG>GCC		solute carrier family 27, member 1							7.0	9.0	8.0					19																	17581502		2160	4247	6407	SO:0001819	synonymous_variant	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17581502G>C	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.153G>C	19.37:g.17581502G>C						SLC27A1_uc002ngt.1_5'UTR|SLC27A1_uc010xpp.1_5'UTR	p.A51A	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN			1	203	+			51			Cytoplasmic (Potential).		A6NIH2|B7Z662	Silent	SNP	ENST00000252595.7	37	c.153G>C	CCDS32953.1																																																																																				PASS	0.741	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580		6	4	6	4	---	---	---	---
CRTC1	23373	broad.mit.edu	37	19	18864380	18864380	+	Silent	SNP	A	A	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr19:18864380A>G	ENST00000321949.8	+	6	635	c.609A>G	c.(607-609)gcA>gcG	p.A203A	CRTC1_ENST00000601916.1_Silent_p.A128A|CRTC1_ENST00000338797.6_Silent_p.A219A|CRTC1_ENST00000594658.1_Silent_p.A162A	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1									p.A219A(1)|p.A203A(1)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CCAAGCAAGCATGGGACACCA	0.463																																						uc002nkb.3																		CRTC1/MAML2(516)	2	Substitution - coding silent(2)		lung(2)	salivary_gland(474)|lung(35)|thyroid(4)|breast(3)|skin(2)|ovary(1)	519						c.(607-609)GCA>GCG		mucoepidermoid carcinoma translocated 1 isoform							173.0	180.0	178.0					19																	18864380		2203	4300	6503	SO:0001819	synonymous_variant	23373				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	g.chr19:18864380A>G	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.609A>G	19.37:g.18864380A>G						CRTC1_uc010ebv.2_Silent_p.A219A|CRTC1_uc010ebw.2_Silent_p.A68A|CRTC1_uc002nkc.3_Silent_p.A68A	p.A203A	NM_015321	NP_056136	Q6UUV9	CRTC1_HUMAN			6	697	+			203						Silent	SNP	ENST00000321949.8	37	c.609A>G	CCDS32963.1																																																																																				PASS	0.463	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465151.3	NM_025021		57	219	57	219	---	---	---	---
ZNF675	171392	broad.mit.edu	37	19	23845859	23845859	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr19:23845859C>A	ENST00000359788.4	-	2	273	c.105G>T	c.(103-105)gaG>gaT	p.E35D	ZNF675_ENST00000601010.1_Missense_Mutation_p.E35D|ZNF675_ENST00000596211.1_Missense_Mutation_p.E35D|ZNF675_ENST00000600313.1_Missense_Mutation_p.E35D|ZNF675_ENST00000601935.1_Missense_Mutation_p.E35D|ZNF675_ENST00000599168.1_Missense_Mutation_p.E35D	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E35D(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTCTGTAGTTCTCTAAAATCA	0.398																																						uc002nri.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(103-105)GAG>GAT		zinc finger protein 675							89.0	97.0	94.0					19																	23845859		2203	4300	6503	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23845859C>A		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.105G>T	19.37:g.23845859C>A	ENSP00000352836:p.Glu35Asp						p.E35D	NM_138330	NP_612203	Q8TD23	ZN675_HUMAN			2	287	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	35			KRAB.		Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.105G>T	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	13.01	2.110421	0.37242	.	.	ENSG00000197372	ENST00000359788	T	0.03920	3.76	0.889	-1.78	0.07957	Krueppel-associated box (4);	.	.	.	.	T	0.15652	0.0377	M	0.92784	3.345	0.19945	N	0.999945	P	0.40681	0.727	P	0.50825	0.651	T	0.07888	-1.0749	9	0.62326	D	0.03	.	3.7495	0.08561	0.0:0.6635:0.0:0.3365	.	35	Q8TD23	ZN675_HUMAN	D	35	ENSP00000352836:E35D	ENSP00000352836:E35D	E	-	3	2	ZNF675	23637699	0.501000	0.26099	0.312000	0.25196	0.310000	0.27922	0.622000	0.24433	-0.697000	0.05092	-0.683000	0.03753	GAG		PASS	0.398	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		4	95	4	95	---	---	---	---
ZNF565	147929	broad.mit.edu	37	19	36673603	36673603	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr19:36673603T>A	ENST00000355114.5	-	5	2111	c.1385A>T	c.(1384-1386)aAg>aTg	p.K462M	ZNF565_ENST00000392173.2_Missense_Mutation_p.K422M|ZNF565_ENST00000304116.5_Missense_Mutation_p.K422M			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	462					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.K422M(1)		large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CCCACATTCCTTACATTCGTA	0.443																																						uc002odn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1264-1266)AAG>ATG		zinc finger protein 565							112.0	91.0	98.0					19																	36673603		2203	4300	6503	SO:0001583	missense	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36673603T>A	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.1385A>T	19.37:g.36673603T>A	ENSP00000347234:p.Lys462Met					ZNF565_uc010ees.2_Missense_Mutation_p.K357M|ZNF565_uc002odo.2_Missense_Mutation_p.K422M	p.K422M	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	1373	-	Esophageal squamous(110;0.162)		422			C2H2-type 10.		B3KQ35|Q6NUS2	Missense_Mutation	SNP	ENST00000355114.5	37	c.1265A>T		.	.	.	.	.	.	.	.	.	.	t	10.31	1.314094	0.23908	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.08193	3.12;3.12;3.12	4.81	3.79	0.43588	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39083	N	0.001464	T	0.12518	0.0304	M	0.74467	2.265	0.09310	N	0.999999	P	0.39157	0.662	B	0.43052	0.406	T	0.13361	-1.0512	10	0.52906	T	0.07	.	4.6198	0.12444	0.0:0.0982:0.1977:0.7041	.	422	Q8N9K5	ZN565_HUMAN	M	422;422;462	ENSP00000376013:K422M;ENSP00000306869:K422M;ENSP00000347234:K462M	ENSP00000306869:K422M	K	-	2	0	ZNF565	41365443	0.000000	0.05858	0.999000	0.59377	0.096000	0.18686	-1.410000	0.02480	2.159000	0.67721	0.529000	0.55759	AAG		PASS	0.443	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		11	63	11	63	---	---	---	---
ZNF780A	284323	broad.mit.edu	37	19	40581535	40581535	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr19:40581535A>C	ENST00000595687.2	-	6	1023	c.814T>G	c.(814-816)Tct>Gct	p.S272A	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000594395.1_Missense_Mutation_p.S273A|ZNF780A_ENST00000455521.1_Missense_Mutation_p.S273A|ZNF780A_ENST00000450241.2_Missense_Mutation_p.S238A|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000340963.5_Missense_Mutation_p.S272A	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	272					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.S273A(1)|p.S238A(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TTTACACCAGAATGAATACTC	0.388																																						uc002omy.2																			2	Substitution - Missense(2)		lung(2)		0						c.(814-816)TCT>GCT		zinc finger protein 780A isoform b							171.0	175.0	174.0					19																	40581535		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581535A>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.814T>G	19.37:g.40581535A>C	ENSP00000472189:p.Ser272Ala					ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.S272A|ZNF780A_uc010xvh.1_Missense_Mutation_p.S273A	p.S272A	NM_001010880	NP_001010880	O75290	Z780A_HUMAN			6	1039	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		272					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.814T>G	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	A	12.04	1.819004	0.32145	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.19806	2.12;2.12	1.92	-1.93	0.07594	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12008	0.0292	L	0.31294	0.92	0.09310	N	0.999994	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31503	-0.9941	9	0.56958	D	0.05	.	2.3259	0.04222	0.2419:0.2846:0.0:0.4736	.	273;272	E9PB48;O75290	.;Z780A_HUMAN	A	272;273;272	ENSP00000400997:S273A;ENSP00000341507:S272A	ENSP00000341507:S272A	S	-	1	0	ZNF780A	45273375	0.895000	0.30542	0.545000	0.28153	0.813000	0.45954	0.030000	0.13688	-0.258000	0.09446	-0.780000	0.03373	TCT		PASS	0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		3	201	3	201	---	---	---	---
C19orf54	284325	broad.mit.edu	37	19	41248484	41248484	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr19:41248484G>A	ENST00000378313.2	-	6	1029	c.910C>T	c.(910-912)Cag>Tag	p.Q304*	C19orf54_ENST00000594163.1_5'Flank|C19orf54_ENST00000339153.3_Nonsense_Mutation_p.Q132*|C19orf54_ENST00000470681.1_3'UTR|C19orf54_ENST00000598485.2_Intron|C19orf54_ENST00000598729.1_Nonsense_Mutation_p.Q132*	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	304								p.T162T(1)|p.Q304*(1)		breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCCCGGACCTGGTCGTAGTCC	0.662																																						uc002oou.1																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(2)		0						c.(910-912)CAG>TAG		hypothetical protein LOC284325							50.0	43.0	45.0					19																	41248484		2203	4300	6503	SO:0001587	stop_gained	284325							g.chr19:41248484G>A	AK123126	CCDS12564.2	19q13.2	2012-10-26			ENSG00000188493	ENSG00000188493			24758	protein-coding gene	gene with protein product							Standard	NM_198476		Approved	FLJ41131	uc002oou.1	Q5BKX5	OTTHUMG00000150174	ENST00000378313.2:c.910C>T	19.37:g.41248484G>A	ENSP00000367564:p.Gln304*					C19orf54_uc002oow.1_Nonsense_Mutation_p.Q132*|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_RNA	p.Q304*	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		6	1030	-			304					A8MSZ5|B4DNU7	Nonsense_Mutation	SNP	ENST00000378313.2	37	c.910C>T	CCDS12564.2	.	.	.	.	.	.	.	.	.	.	G	23.8	4.459514	0.84317	.	.	ENSG00000188493	ENST00000378313;ENST00000339153	.	.	.	5.48	5.48	0.80851	.	0.437967	0.26163	N	0.025970	.	.	.	.	.	.	0.40631	D	0.981852	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-8.2721	11.9163	0.52767	0.0817:0.0:0.9183:0.0	.	.	.	.	X	304;132	.	ENSP00000341122:Q132X	Q	-	1	0	C19orf54	45940324	0.994000	0.37717	0.857000	0.33713	0.742000	0.42306	3.272000	0.51616	2.733000	0.93635	0.563000	0.77884	CAG		PASS	0.662	C19orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316701.1	NM_198476		5	29	5	29	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42872647	42872647	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr19:42872647G>T	ENST00000251268.6	+	36	6314	c.6314G>T	c.(6313-6315)gGa>gTa	p.G2105V	MEGF8_ENST00000334370.4_Missense_Mutation_p.G2038V|MEGF8_ENST00000378073.4_5'Flank	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2105	PSI 6.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.G2038V(2)|p.G1646V(2)|p.G2105V(2)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGTATGGCCGGAGGCTGTGGG	0.642																																						uc002otl.3																			6	Substitution - Missense(6)		lung(6)	ovary(1)	1						c.(6112-6114)GGA>GTA		multiple EGF-like-domains 8							10.0	10.0	10.0					19																	42872647		2141	4206	6347	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42872647G>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6314G>T	19.37:g.42872647G>T	ENSP00000251268:p.Gly2105Val					MEGF8_uc002otm.3_Missense_Mutation_p.G1646V|MEGF8_uc002otn.3_5'Flank	p.G2038V	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			35	6748	+		Prostate(69;0.00682)	2105			Extracellular (Potential).|PSI 6.		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.6113G>T		.	.	.	.	.	.	.	.	.	.	G	26.3	4.728874	0.89390	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.46819	0.86;0.86	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000002	T	0.69314	0.3097	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	0.983;1.0	P;D	0.97110	0.784;1.0	T	0.73940	-0.3824	10	0.87932	D	0	-5.1465	17.0578	0.86539	0.0:0.0:1.0:0.0	.	2105;2038	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	V	2038;2105	ENSP00000334219:G2038V;ENSP00000251268:G2105V	ENSP00000251268:G2105V	G	+	2	0	MEGF8	47564487	1.000000	0.71417	0.996000	0.52242	0.918000	0.54935	8.569000	0.90744	2.401000	0.81631	0.561000	0.74099	GGA		PASS	0.642	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		6	24	6	24	---	---	---	---
FBXO46	23403	broad.mit.edu	37	19	46215941	46215941	+	Silent	SNP	G	G	T	rs371307704	byFrequency	TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr19:46215941G>T	ENST00000317683.3	-	2	946	c.813C>A	c.(811-813)ccC>ccA	p.P271P		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	271								p.P271P(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CTGGTGCACGGGGCTCCCGGC	0.726																																						uc002pcy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(811-813)CCC>CCA		F-box protein 46							21.0	24.0	23.0					19																	46215941		1932	4108	6040	SO:0001819	synonymous_variant	23403						protein binding	g.chr19:46215941G>T	BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.813C>A	19.37:g.46215941G>T						FBXO46_uc002pcz.2_Silent_p.P271P	p.P271P	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)	2	938	-		Ovarian(192;0.179)|all_neural(266;0.224)	271						Silent	SNP	ENST00000317683.3	37	c.813C>A	CCDS46116.1																																																																																				PASS	0.726	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459661.1	XM_371179		4	44	4	44	---	---	---	---
SNRNP70	6625	broad.mit.edu	37	19	49601727	49601727	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr19:49601727G>C	ENST00000598441.1	+	5	533	c.309G>C	c.(307-309)aaG>aaC	p.K103N	SNRNP70_ENST00000221448.5_Missense_Mutation_p.K103N			P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	103	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.K103N(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						ATGCCTTCAAGACTCTCTTCG	0.532											OREG0025616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002pmk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(307-309)AAG>AAC		U1 small nuclear ribonucleoprotein 70 kDa							113.0	114.0	114.0					19																	49601727		2203	4300	6503	SO:0001583	missense	6625				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:49601727G>C		CCDS12756.1, CCDS74417.1	19q13.3	2013-02-12	2008-10-29	2008-10-29		ENSG00000104852		"""RNA binding motif (RRM) containing"""	11150	protein-coding gene	gene with protein product		180740	"""small nuclear ribonucleoprotein 70kDa (RNP antigen)"""	RNPU1Z, RPU1, SNRP70			Standard	XM_005259177		Approved	U1-70K, Snp1	uc021uxh.1	P08621		ENST00000598441.1:c.309G>C	19.37:g.49601727G>C	ENSP00000472998:p.Lys103Asn		OREG0025616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	963	SNRNP70_uc002pmh.1_RNA|SNRNP70_uc002pmi.1_Missense_Mutation_p.K103N|SNRNP70_uc002pml.2_5'UTR|SNRNP70_uc002pmm.2_RNA	p.K103N	NM_003089	NP_003080	P08621	RU17_HUMAN			5	748	+			103			RRM.		B3KUA3|P78493|P78494|Q15364|Q15686|Q15687|Q15689|Q99377|Q9UE45|Q9UE46|Q9UE47|Q9UE48|Q9UFQ6	Missense_Mutation	SNP	ENST00000598441.1	37	c.309G>C	CCDS12756.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.730827	0.69074	.	.	ENSG00000104852	ENST00000221448;ENST00000401730	T;T	0.74632	-0.86;-0.86	5.34	4.29	0.51040	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.79782	0.4505	L	0.49126	1.545	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.83275	0.915;0.996	T	0.79408	-0.1816	10	0.62326	D	0.03	-26.3732	7.7604	0.28948	0.2226:0.0:0.7774:0.0	.	103;103	P08621;P08621-2	RU17_HUMAN;.	N	103	ENSP00000221448:K103N;ENSP00000385077:K103N	ENSP00000221448:K103N	K	+	3	2	SNRNP70	54293539	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.984000	0.40658	2.679000	0.91253	0.655000	0.94253	AAG		PASS	0.532	SNRNP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466266.1	NM_003089		24	190	24	190	---	---	---	---
PPFIA3	8541	broad.mit.edu	37	19	49631272	49631272	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr19:49631272G>A	ENST00000334186.4	+	2	491	c.142G>A	c.(142-144)Gag>Aag	p.E48K	PPFIA3_ENST00000602351.1_Missense_Mutation_p.E48K	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	48					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)		p.E48K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GACGCTGCGCGAGGCACAGGA	0.736																																						uc002pmr.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(142-144)GAG>AAG		PTPRF interacting protein alpha 3							12.0	14.0	13.0					19																	49631272		1806	3775	5581	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49631272G>A	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.142G>A	19.37:g.49631272G>A	ENSP00000335614:p.Glu48Lys					PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_5'Flank|PPFIA3_uc010yaj.1_5'Flank|PPFIA3_uc002pms.2_5'Flank	p.E48K	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	2	474	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	48			Potential.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.142G>A	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	33	5.211685	0.95069	.	.	ENSG00000177380	ENST00000334186	T	0.52526	0.66	4.34	4.34	0.51931	.	0.000000	0.47852	D	0.000205	T	0.51363	0.1670	M	0.71036	2.16	0.80722	D	1	P	0.48589	0.912	B	0.43123	0.409	T	0.61148	-0.7121	10	0.56958	D	0.05	-22.4307	16.1392	0.81512	0.0:0.0:1.0:0.0	.	48	O75145	LIPA3_HUMAN	K	48	ENSP00000335614:E48K	ENSP00000335614:E48K	E	+	1	0	PPFIA3	54323084	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.446000	0.97590	2.441000	0.82636	0.467000	0.42956	GAG		PASS	0.736	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		8	58	8	58	---	---	---	---
FCGRT	2217	broad.mit.edu	37	19	50017655	50017655	+	Silent	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr19:50017655C>T	ENST00000221466.5	+	4	999	c.513C>T	c.(511-513)gcC>gcT	p.A171A	FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000596975.1_Intron|FCGRT_ENST00000426395.3_Silent_p.A171A	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	171	Alpha-2.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)	p.A171A(1)		endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		ACAAGGCGGCCAACAAGGAGC	0.647																																						uc002poe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(511-513)GCC>GCT		Fc fragment of IgG, receptor, transporter, alpha							29.0	32.0	31.0					19																	50017655		2203	4300	6503	SO:0001819	synonymous_variant	2217				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity	g.chr19:50017655C>T	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.513C>T	19.37:g.50017655C>T						FCGRT_uc002pod.2_RNA|FCGRT_uc002pog.2_Silent_p.A171A|FCGRT_uc002pof.1_Silent_p.A76A|FCGRT_uc010yax.1_Silent_p.A171A|FCGRT_uc002poh.1_Silent_p.A31A	p.A171A	NM_001136019	NP_001129491	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	4	999	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	171			Extracellular (Potential).|Alpha-2.		Q5HYM5|Q9HBV7|Q9NZ19	Silent	SNP	ENST00000221466.5	37	c.513C>T	CCDS12770.1																																																																																				PASS	0.647	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			12	29	12	29	---	---	---	---
SIGLEC8	27181	broad.mit.edu	37	19	51957955	51957955	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr19:51957955G>C	ENST00000321424.3	-	5	1197	c.1131C>G	c.(1129-1131)ttC>ttG	p.F377L	SIGLEC8_ENST00000597352.1_5'Flank|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.F284L|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.F268L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	377					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.F377L(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGATGATGCAGAAGGACAGGA	0.587																																						uc002pwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(1129-1131)TTC>TTG		sialic acid binding Ig-like lectin 8 precursor							135.0	124.0	127.0					19																	51957955		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51957955G>C	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1131C>G	19.37:g.51957955G>C	ENSP00000321077:p.Phe377Leu					SIGLEC8_uc010yda.1_Missense_Mutation_p.F268L|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.F284L	p.F377L	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	5	1198	-		all_neural(266;0.0199)	377			Helical; (Potential).		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.1131C>G	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	0.013	-1.613846	0.00835	.	.	ENSG00000105366	ENST00000430817;ENST00000321424;ENST00000340550	T;T;T	0.55588	1.86;0.51;1.63	2.31	-0.0111	0.13994	.	1.945260	0.03271	N	0.184742	T	0.30665	0.0772	N	0.14661	0.345	0.09310	N	1	B;B;B	0.24768	0.024;0.111;0.002	B;B;B	0.22386	0.018;0.039;0.005	T	0.11717	-1.0576	10	0.12103	T	0.63	.	3.0888	0.06286	0.1817:0.2924:0.5259:0.0	.	268;284;377	C9JT30;Q9NYZ4-2;Q9NYZ4	.;.;SIGL8_HUMAN	L	268;377;284	ENSP00000389142:F268L;ENSP00000321077:F377L;ENSP00000339448:F284L	ENSP00000321077:F377L	F	-	3	2	SIGLEC8	56649767	0.092000	0.21681	0.069000	0.20011	0.188000	0.23474	1.103000	0.31062	0.293000	0.22520	-0.748000	0.03510	TTC		PASS	0.587	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442		30	135	30	135	---	---	---	---
ZNF256	10172	broad.mit.edu	37	19	58452800	58452800	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr19:58452800C>G	ENST00000282308.3	-	3	1572	c.1376G>C	c.(1375-1377)gGa>gCa	p.G459A	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	459					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|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.G459A(2)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TGGCCTTTCTCCTGTGTGAAC	0.398																																					NSCLC(55;1313 1552 8040 11996)	uc002qqu.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1375-1377)GGA>GCA		zinc finger protein 256							86.0	82.0	84.0					19																	58452800		2203	4300	6503	SO:0001583	missense	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58452800C>G	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.1376G>C	19.37:g.58452800C>G	ENSP00000282308:p.Gly459Ala					ZNF256_uc010euj.2_Missense_Mutation_p.G306A	p.G459A	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	1611	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	459					B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	c.1376G>C	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.095419	0.76870	.	.	ENSG00000152454	ENST00000282308	T	0.26373	1.74	3.05	0.768	0.18487	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.47192	0.1432	M	0.83384	2.64	0.34348	D	0.689579	D	0.76494	0.999	D	0.75484	0.986	T	0.56547	-0.7961	9	0.87932	D	0	.	5.9675	0.19332	0.1884:0.7015:0.0:0.1101	.	459	Q9Y2P7	ZN256_HUMAN	A	459	ENSP00000282308:G459A	ENSP00000282308:G459A	G	-	2	0	ZNF256	63144612	0.000000	0.05858	0.024000	0.17045	0.891000	0.51852	-0.036000	0.12185	0.124000	0.18369	0.467000	0.42956	GGA		PASS	0.398	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			17	50	17	50	---	---	---	---
NDUFAF5	79133	broad.mit.edu	37	20	13782282	13782282	+	Missense_Mutation	SNP	G	G	C	rs149637004		TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr20:13782282G>C	ENST00000378106.5	+	7	789	c.670G>C	c.(670-672)Gac>Cac	p.D224H	NDUFAF5_ENST00000463598.1_Missense_Mutation_p.D196H|NDUFAF5_ENST00000475968.1_3'UTR	NM_024120.4	NP_077025.2	Q5TEU4	NDUF5_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 5	224					mitochondrial respiratory chain complex I assembly (GO:0032981)	extrinsic component of mitochondrial inner membrane (GO:0031314)	methyltransferase activity (GO:0008168)	p.D224H(1)|p.D224N(1)									TGCTGTCAATGACCTGGGACA	0.438																																						uc002wom.2																			2	Substitution - Missense(2)		lung(2)		0						c.(670-672)GAC>CAC		hypothetical protein LOC79133 isoform 1							129.0	123.0	125.0					20																	13782282		2203	4300	6503	SO:0001583	missense	79133				mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity	g.chr20:13782282G>C		CCDS13118.1, CCDS33441.1	20p12.1	2012-10-12	2012-05-08	2012-05-08	ENSG00000101247	ENSG00000101247		"""Mitochondrial respiratory chain complex assembly factors"""	15899	protein-coding gene	gene with protein product		612360	"""chromosome 20 open reading frame 7"""	C20orf7		18940309, 21607760	Standard	NM_024120		Approved	dJ842G6.1	uc002wom.3	Q5TEU4	OTTHUMG00000031909	ENST00000378106.5:c.670G>C	20.37:g.13782282G>C	ENSP00000367346:p.Asp224His					C20orf7_uc002wol.1_3'UTR|C20orf7_uc002won.2_Missense_Mutation_p.D196H|C20orf7_uc002woo.2_RNA	p.D224H	NM_024120	NP_077025	Q5TEU4	CT007_HUMAN			7	703	+		Myeloproliferative disorder(85;0.00878)	224					A8K166|Q6GPH3|Q9H6F4	Missense_Mutation	SNP	ENST00000378106.5	37	c.670G>C	CCDS13118.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628418	0.87560	.	.	ENSG00000101247	ENST00000378106;ENST00000536501;ENST00000463598	D;D	0.84944	-1.92;-1.92	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.95268	0.8465	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.96490	0.9363	10	0.87932	D	0	-44.5345	19.3518	0.94392	0.0:0.0:1.0:0.0	.	196;224	Q5TEU4-2;Q5TEU4	.;CT007_HUMAN	H	224;224;196	ENSP00000367346:D224H;ENSP00000420497:D196H	ENSP00000437325:D224H	D	+	1	0	C20orf7	13730282	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.138000	0.94501	2.571000	0.86741	0.650000	0.86243	GAC		PASS	0.438	NDUFAF5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078057.2	NM_001039375		7	51	7	51	---	---	---	---
SPAG4	6676	broad.mit.edu	37	20	34204067	34204067	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr20:34204067G>T	ENST00000374273.3	+	1	254	c.142G>T	c.(142-144)Gag>Tag	p.E48*		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	48					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)	p.E48*(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TGGGGAGCCCGAGGGCAGAAG	0.667																																						uc002xdb.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(142-144)GAG>TAG		sperm associated antigen 4							6.0	9.0	8.0					20																	34204067		2101	4166	6267	SO:0001587	stop_gained	6676				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	g.chr20:34204067G>T	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.142G>T	20.37:g.34204067G>T	ENSP00000363391:p.Glu48*					SPAG4_uc010zvi.1_5'UTR	p.E48*	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		1	259	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		48					O43648	Nonsense_Mutation	SNP	ENST00000374273.3	37	c.142G>T	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.556147	0.65425	.	.	ENSG00000061656	ENST00000374273	.	.	.	4.72	3.74	0.42951	.	0.339729	0.27284	N	0.020067	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.1411	9.0468	0.36352	0.1035:0.0:0.8965:0.0	.	.	.	.	X	48	.	ENSP00000363391:E48X	E	+	1	0	SPAG4	33667481	0.992000	0.36948	1.000000	0.80357	0.122000	0.20287	1.238000	0.32707	2.460000	0.83146	0.561000	0.74099	GAG		PASS	0.667	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		4	18	4	18	---	---	---	---
SPAG4	6676	broad.mit.edu	37	20	34204119	34204119	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr20:34204119G>C	ENST00000374273.3	+	1	306	c.194G>C	c.(193-195)gGa>gCa	p.G65A		NM_003116.1	NP_003107.1	Q9NPE6	SPAG4_HUMAN	sperm associated antigen 4	65					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|motile cilium (GO:0031514)	structural molecule activity (GO:0005198)	p.G65A(1)		NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TTGAGCGCGGGAGTGCCCGGA	0.716																																						uc002xdb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(193-195)GGA>GCA		sperm associated antigen 4							6.0	9.0	8.0					20																	34204119		2113	4198	6311	SO:0001583	missense	6676				spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity	g.chr20:34204119G>C	AF043344	CCDS13259.1	20q11.2	2010-04-23			ENSG00000061656	ENSG00000061656			11214	protein-coding gene	gene with protein product	"""acrosomal protein ACR55"", ""Sad1 and UNC84 domain containing 4"", ""cancer/testis antigen 127"""	603038				9691178, 10373309	Standard	NM_003116		Approved	SUN4, CT127	uc002xdb.1	Q9NPE6	OTTHUMG00000032352	ENST00000374273.3:c.194G>C	20.37:g.34204119G>C	ENSP00000363391:p.Gly65Ala					SPAG4_uc010zvi.1_5'UTR	p.G65A	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.0127)		1	311	+	Lung NSC(9;0.0053)|all_lung(11;0.00785)		65					O43648	Missense_Mutation	SNP	ENST00000374273.3	37	c.194G>C	CCDS13259.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868265	0.72065	.	.	ENSG00000061656	ENST00000374273	T	0.22743	1.94	4.72	2.72	0.32119	.	0.177919	0.36628	N	0.002495	T	0.18087	0.0434	L	0.34521	1.04	0.31518	N	0.662778	P	0.52316	0.952	P	0.46885	0.53	T	0.11060	-1.0603	10	0.66056	D	0.02	-24.6903	7.4263	0.27100	0.2036:0.0:0.7964:0.0	.	65	Q9NPE6	SPAG4_HUMAN	A	65	ENSP00000363391:G65A	ENSP00000363391:G65A	G	+	2	0	SPAG4	33667533	1.000000	0.71417	0.986000	0.45419	0.984000	0.73092	1.269000	0.33074	1.225000	0.43566	0.561000	0.74099	GGA		PASS	0.716	SPAG4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078896.1	NM_003116		6	8	6	8	---	---	---	---
NDRG3	57446	broad.mit.edu	37	20	35312861	35312861	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr20:35312861A>G	ENST00000349004.1	-	6	419	c.338T>C	c.(337-339)aTg>aCg	p.M113T	NDRG3_ENST00000540765.1_Missense_Mutation_p.M9T|NDRG3_ENST00000373803.2_Missense_Mutation_p.M113T|NDRG3_ENST00000359675.2_Missense_Mutation_p.M101T|NDRG3_ENST00000373773.3_Missense_Mutation_p.M18T	NM_032013.3	NP_114402.1	Q9UGV2	NDRG3_HUMAN	NDRG family member 3	113					cell differentiation (GO:0030154)|negative regulation of cell growth (GO:0030308)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.M113T(1)		endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CAGCTCATCCATTGTGGGGTA	0.438																																						uc002xfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(337-339)ATG>ACG		N-myc downstream regulated gene 3 isoform a							119.0	100.0	107.0					20																	35312861		2203	4300	6503	SO:0001583	missense	57446				cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm		g.chr20:35312861A>G	AL031662	CCDS13284.1, CCDS13285.1	20q11.21-q11.23	2008-07-28			ENSG00000101079	ENSG00000101079			14462	protein-coding gene	gene with protein product		605273				10831399, 17998568	Standard	NM_032013		Approved		uc002xfw.3	Q9UGV2	OTTHUMG00000032398	ENST00000349004.1:c.338T>C	20.37:g.35312861A>G	ENSP00000345292:p.Met113Thr					NDRG3_uc002xfx.2_Missense_Mutation_p.M101T|NDRG3_uc010zvq.1_Missense_Mutation_p.M18T|NDRG3_uc010zvr.1_Missense_Mutation_p.M1T	p.M113T	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN			6	420	-		Myeloproliferative disorder(115;0.00878)	113					A2A2S8|E1P5U7|E1P5U8|Q5TH32|Q96PL8|Q96SM2|Q9BXY7|Q9H3N7|Q9H411|Q9H8J6	Missense_Mutation	SNP	ENST00000349004.1	37	c.338T>C	CCDS13285.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.122426	0.77436	.	.	ENSG00000101079	ENST00000349004;ENST00000373803;ENST00000359675;ENST00000373773;ENST00000540765;ENST00000422536	T;T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11;2.11	5.31	5.31	0.75309	.	0.037994	0.85682	D	0.000000	T	0.42223	0.1193	M	0.89601	3.045	0.80722	D	1	P;P;P	0.49253	0.921;0.837;0.833	P;P;B	0.49047	0.599;0.559;0.42	T	0.54173	-0.8333	10	0.87932	D	0	.	13.3127	0.60388	1.0:0.0:0.0:0.0	.	18;101;113	F8WBF9;Q9UGV2-2;Q9UGV2	.;.;NDRG3_HUMAN	T	113;113;101;18;9;104	ENSP00000345292:M113T;ENSP00000362909:M113T;ENSP00000352703:M101T;ENSP00000362878:M18T;ENSP00000442813:M9T;ENSP00000416636:M104T	ENSP00000345292:M113T	M	-	2	0	NDRG3	34746275	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	8.977000	0.93446	2.244000	0.73946	0.477000	0.44152	ATG		PASS	0.438	NDRG3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079053.2			4	31	4	31	---	---	---	---
PLTP	5360	broad.mit.edu	37	20	44538310	44538310	+	Splice_Site	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr20:44538310G>A	ENST00000477313.1	-	4	924	c.330C>T	c.(328-330)ttC>ttT	p.F110F	PLTP_ENST00000542937.1_Splice_Site_p.F130F|PLTP_ENST00000372431.3_Splice_Site_p.F110F|PLTP_ENST00000420868.2_Intron|PLTP_ENST00000354050.4_Intron|PLTP_ENST00000372420.1_Splice_Site_p.F22F			P55058	PLTP_HUMAN	phospholipid transfer protein	110					lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|sperm motility (GO:0030317)|vitamin E biosynthetic process (GO:0010189)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)	p.F110F(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CCCCATCATAGCTGCCAGGGG	0.537																																						uc002xqn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(328-330)TTC>TTT		phospholipid transfer protein isoform a							57.0	60.0	59.0					20																	44538310		2203	4300	6503	SO:0001630	splice_region_variant	5360				cellular lipid metabolic process|lipid transport	extracellular region	lipid binding	g.chr20:44538310G>A	L26232	CCDS13386.1, CCDS13387.1, CCDS56196.1, CCDS56197.1	20q13.12	2011-08-16			ENSG00000100979	ENSG00000100979		"""BPI fold containing"""	9093	protein-coding gene	gene with protein product	"""BPI fold containing family E"""	172425					Standard	NM_006227		Approved	BPIFE	uc002xqn.2	P55058	OTTHUMG00000033047	ENST00000477313.1:c.330-1C>T	20.37:g.44538310G>A						PLTP_uc002xql.1_Silent_p.F22F|PLTP_uc002xqm.1_Silent_p.F130F|PLTP_uc002xqo.1_Intron|PLTP_uc002xqp.1_Silent_p.F110F|PLTP_uc002xqq.1_Silent_p.F79F|PLTP_uc010zxj.1_Intron|PLTP_uc010ghj.1_Silent_p.F110F	p.F110F	NM_006227	NP_006218	P55058	PLTP_HUMAN			5	410	-		Myeloproliferative disorder(115;0.0122)	110					A8K006|B4DDD5|B4DRB4|E1P5N8|E7EV16|Q8WTT1|Q9BR07|Q9BSH8	Silent	SNP	ENST00000477313.1	37	c.330C>T	CCDS13386.1																																																																																				PASS	0.537	PLTP-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354633.1	NM_006227	Silent	34	125	34	125	---	---	---	---
TSHZ2	128553	broad.mit.edu	37	20	51872765	51872765	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr20:51872765A>G	ENST00000371497.5	+	2	3655	c.2768A>G	c.(2767-2769)cAc>cGc	p.H923R	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.H920R|TSHZ2_ENST00000603338.2_Missense_Mutation_p.H920R	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	923					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H923R(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GACAAAGGCCACCCCATCTTT	0.478																																						uc002xwo.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(2767-2769)CAC>CGC		teashirt zinc finger homeobox 2							70.0	72.0	71.0					20																	51872765		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872765A>G	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2768A>G	20.37:g.51872765A>G	ENSP00000360552:p.His923Arg						p.H923R	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3724	+			923					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.2768A>G	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	A	19.50	3.839254	0.71373	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.16897	2.32;2.31	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.35595	0.0937	L	0.43923	1.385	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.05484	-1.0882	10	0.87932	D	0	-4.1132	16.1354	0.81481	1.0:0.0:0.0:0.0	.	923	Q9NRE2	TSH2_HUMAN	R	923;920;449	ENSP00000360552:H923R;ENSP00000333114:H920R	ENSP00000333114:H920R	H	+	2	0	TSHZ2	51306172	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.956000	0.93066	2.206000	0.71126	0.523000	0.50628	CAC		PASS	0.478	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		21	63	21	63	---	---	---	---
PMEPA1	56937	broad.mit.edu	37	20	56227337	56227337	+	Silent	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr20:56227337C>T	ENST00000341744.3	-	4	955	c.636G>A	c.(634-636)tcG>tcA	p.S212S	PMEPA1_ENST00000395814.1_Silent_p.S162S|PMEPA1_ENST00000347215.4_Silent_p.S177S|PMEPA1_ENST00000265626.4_Silent_p.S162S|PMEPA1_ENST00000395816.3_Silent_p.S162S	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	212					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)	p.S212S(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CGCTGATGCCCGAGTTACTGC	0.692																																						uc002xyq.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(634-636)TCG>TCA		transmembrane prostate androgen-induced protein							26.0	29.0	28.0					20																	56227337		2202	4298	6500	SO:0001819	synonymous_variant	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227337C>T	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.636G>A	20.37:g.56227337C>T						PMEPA1_uc002xyr.2_Silent_p.S162S|PMEPA1_uc002xys.2_Silent_p.S177S|PMEPA1_uc002xyt.2_Silent_p.S162S	p.S212S	NM_020182	NP_064567	Q969W9	PMEPA_HUMAN			4	1029	-			212			Cytoplasmic (Potential).		Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Silent	SNP	ENST00000341744.3	37	c.636G>A	CCDS13463.1																																																																																				PASS	0.692	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		13	53	13	53	---	---	---	---
VAPB	9217	broad.mit.edu	37	20	57009745	57009745	+	Nonsense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr20:57009745C>G	ENST00000475243.1	+	3	637	c.299C>G	c.(298-300)tCa>tGa	p.S100*	VAPB_ENST00000265619.2_Intron|VAPB_ENST00000395802.3_Intron	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	100	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)	p.S100*(1)		kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			ACTGACACTTCAGATATGGAA	0.333																																						uc002xza.2																			1	Substitution - Nonsense(1)		lung(1)	kidney(1)	1						c.(298-300)TCA>TGA		VAMP-associated protein B/C							135.0	121.0	126.0					20																	57009745		2203	4300	6503	SO:0001587	stop_gained	9217				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity	g.chr20:57009745C>G	AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.299C>G	20.37:g.57009745C>G	ENSP00000417175:p.Ser100*					VAPB_uc002xzb.2_Intron|VAPB_uc010zzo.1_Intron|VAPB_uc002xzc.2_Intron	p.S100*	NM_004738	NP_004729	O95292	VAPB_HUMAN	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)		3	570	+	Lung NSC(12;0.000615)|all_lung(29;0.00186)		100			Cytoplasmic (Potential).|MSP.		A2A2F2|O95293|Q9P0H0	Nonsense_Mutation	SNP	ENST00000475243.1	37	c.299C>G	CCDS33498.1	.	.	.	.	.	.	.	.	.	.	C	40	8.450387	0.98817	.	.	ENSG00000124164	ENST00000475243	.	.	.	5.55	5.55	0.83447	.	0.051816	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-13.1855	19.5182	0.95174	0.0:1.0:0.0:0.0	.	.	.	.	X	100	.	ENSP00000417175:S100X	S	+	2	0	VAPB	56443151	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.070000	0.71220	2.603000	0.88011	0.655000	0.94253	TCA		PASS	0.333	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079875.2			8	37	8	37	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57769737	57769737	+	Silent	SNP	C	C	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr20:57769737C>T	ENST00000371030.2	+	1	3663	c.3663C>T	c.(3661-3663)ccC>ccT	p.P1221P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1221							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.P1221P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ATGAGGGTCCCAATGGCCCTC	0.632																																						uc002yan.2																			1	Substitution - coding silent(1)		lung(1)	skin(13)|ovary(1)	14						c.(3661-3663)CCC>CCT		zinc finger protein 831							25.0	29.0	27.0					20																	57769737		2056	4194	6250	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57769737C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.3663C>T	20.37:g.57769737C>T							p.P1221P	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	3663	+	all_lung(29;0.0085)		1221					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.3663C>T	CCDS42894.1																																																																																				PASS	0.632	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		8	32	8	32	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35127600	35127600	+	Splice_Site	SNP	A	A	T			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr21:35127600A>T	ENST00000381318.3	+	8	911		c.e8-1		ITSN1_ENST00000399338.4_Splice_Site|ITSN1_ENST00000381291.4_Splice_Site|ITSN1_ENST00000488166.1_Splice_Site|ITSN1_ENST00000399353.1_Splice_Site|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Splice_Site|ITSN1_ENST00000399367.3_Splice_Site|ITSN1_ENST00000399355.2_Splice_Site|ITSN1_ENST00000381285.4_Splice_Site|ITSN1_ENST00000399326.3_Splice_Site|ITSN1_ENST00000379960.5_Splice_Site|ITSN1_ENST00000437442.2_Splice_Site|ITSN1_ENST00000399352.1_Splice_Site	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)						apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TTTTCCCCACAGTGTCCCACC	0.403																																						uc002yta.1																			1	Unknown(1)		lung(1)	ovary(3)|skin(1)	4						c.e8-2		intersectin 1 isoform ITSN-l							66.0	56.0	59.0					21																	35127600		2203	4300	6503	SO:0001630	splice_region_variant	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35127600A>T	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.624-1A>T	21.37:g.35127600A>T						DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_Splice_Site|ITSN1_uc002ysz.2_Splice_Site_p.S208_splice|ITSN1_uc010gmg.2_Splice_Site_p.S171_splice|ITSN1_uc010gmh.2_Splice_Site|ITSN1_uc002ysw.2_Splice_Site_p.S208_splice|ITSN1_uc010gmi.2_Splice_Site_p.S171_splice|ITSN1_uc010gmj.2_Splice_Site_p.S92_splice|ITSN1_uc002ysy.2_Splice_Site_p.S208_splice|ITSN1_uc002ysx.2_Splice_Site_p.S171_splice|ITSN1_uc002ytb.1_Splice_Site_p.S208_splice|ITSN1_uc002ytc.1_Splice_Site_p.S208_splice|ITSN1_uc002ytd.2_Splice_Site|ITSN1_uc010gmk.2_Splice_Site_p.S171_splice|ITSN1_uc010gml.2_Splice_Site|ITSN1_uc002ytj.2_Splice_Site_p.S208_splice|ITSN1_uc010gmm.1_Splice_Site|ITSN1_uc002yte.2_Splice_Site_p.S142_splice	p.S208_splice	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			8	892	+								A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Splice_Site	SNP	ENST00000381318.3	37	c.624_splice	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.038434	0.75617	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000381283;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.337	0.74266	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITSN1	34049470	1.000000	0.71417	0.985000	0.45067	0.933000	0.57130	8.254000	0.89844	2.014000	0.59158	0.533000	0.62120	.		PASS	0.403	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	Intron	6	14	6	14	---	---	---	---
CLTCL1	8218	broad.mit.edu	37	22	19197964	19197964	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr22:19197964T>A	ENST00000263200.10	-	20	3193	c.3121A>T	c.(3121-3123)Atg>Ttg	p.M1041L	CLTCL1_ENST00000353891.5_Missense_Mutation_p.M1041L|CLTCL1_ENST00000442042.2_5'Flank|CLTCL1_ENST00000427926.1_Missense_Mutation_p.M1041L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1041	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.M1041L(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATGTACTCCATGACCCGTGTG	0.562			T	?	ALCL																																	uc002zpb.2				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(3121-3123)ATG>TTG		clathrin, heavy polypeptide-like 1 isoform 1							75.0	76.0	76.0					22																	19197964		2089	4226	6315	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19197964T>A		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.3121A>T	22.37:g.19197964T>A	ENSP00000445677:p.Met1041Leu					CLTCL1_uc011agv.1_Missense_Mutation_p.M1041L|CLTCL1_uc011agw.1_Missense_Mutation_p.M1041L|CLTCL1_uc011agt.1_5'Flank|CLTCL1_uc011agu.1_5'Flank|CLTCL1_uc010grm.1_5'Flank|CLTCL1_uc002zpe.2_Missense_Mutation_p.M1L|CLTCL1_uc002zpd.1_Missense_Mutation_p.M1L	p.M1041L	NM_007098	NP_009029	P53675	CLH2_HUMAN			20	3196	-	Colorectal(54;0.0993)		1041			Proximal segment.|Heavy chain arm.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.3121A>T	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.515996	0.64634	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.22134	1.97;1.97;1.97	3.71	3.71	0.42584	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47210	0.1433	M	0.83852	2.665	0.58432	D	0.999995	B;P	0.34864	0.294;0.473	B;P	0.56042	0.319;0.79	T	0.49390	-0.8945	10	0.51188	T	0.08	-23.5205	12.5479	0.56210	0.0:0.0:0.0:1.0	.	1041;1041	P53675-2;P53675	.;CLH2_HUMAN	L	1041	ENSP00000439662:M1041L;ENSP00000445677:M1041L;ENSP00000441158:M1041L	ENSP00000445677:M1041L	M	-	1	0	CLTCL1	17577964	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	7.101000	0.76997	1.551000	0.49450	0.459000	0.35465	ATG		PASS	0.562	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		13	46	13	46	---	---	---	---
SFI1	9814	broad.mit.edu	37	22	32011205	32011205	+	Silent	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr22:32011205G>A	ENST00000400288.2	+	29	3345	c.3240G>A	c.(3238-3240)ccG>ccA	p.P1080P	SFI1_ENST00000474741.1_3'UTR|SFI1_ENST00000414585.1_Silent_p.P927P|SFI1_ENST00000432498.1_Silent_p.P1049P|SFI1_ENST00000540643.1_Silent_p.P1025P|SFI1_ENST00000443326.1_Silent_p.P998P|SFI1_ENST00000400289.1_Silent_p.P998P|SFI1_ENST00000443011.1_Silent_p.P927P	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1080					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.P1080P(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						GCACAGGCCCGGAGCTGCTGC	0.711																																						uc003ale.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(3238-3240)CCG>CCA		spindle assembly associated Sfi1 homolog isoform							11.0	14.0	13.0					22																	32011205		1988	4143	6131	SO:0001819	synonymous_variant	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:32011205G>A	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.3240G>A	22.37:g.32011205G>A						SFI1_uc003alf.2_Silent_p.P1049P|SFI1_uc003alg.2_Silent_p.P998P|SFI1_uc011alp.1_Silent_p.P986P|SFI1_uc011alq.1_Silent_p.P1025P|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_Silent_p.P172P|SFI1_uc003alj.2_Silent_p.P214P	p.P1080P	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN			29	3633	+			1080					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Silent	SNP	ENST00000400288.2	37	c.3240G>A	CCDS43004.1																																																																																				PASS	0.711	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		10	19	10	19	---	---	---	---
PICK1	9463	broad.mit.edu	37	22	38469093	38469093	+	Silent	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr22:38469093G>A	ENST00000404072.3	+	10	1124	c.777G>A	c.(775-777)gaG>gaA	p.E259E	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Silent_p.E259E	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	259	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)	p.E259E(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TGAAGTTTGAGTACCTGGTGA	0.597																																						uc003auq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(775-777)GAG>GAA		protein interacting with C kinase 1							177.0	140.0	152.0					22																	38469093		2203	4300	6503	SO:0001819	synonymous_variant	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38469093G>A	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.777G>A	22.37:g.38469093G>A						PICK1_uc003aur.2_Silent_p.E259E|PICK1_uc003aus.2_Silent_p.E259E|PICK1_uc003aut.2_Silent_p.E259E	p.E259E	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN			10	1167	+	Melanoma(58;0.045)		259			AH.		B3KS52|O95906	Silent	SNP	ENST00000404072.3	37	c.777G>A	CCDS13965.1																																																																																				PASS	0.597	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		37	84	37	84	---	---	---	---
SYNGR1	9145	broad.mit.edu	37	22	39777839	39777839	+	Missense_Mutation	SNP	G	G	A	rs558152755		TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr22:39777839G>A	ENST00000328933.5	+	4	637	c.622G>A	c.(622-624)Gcc>Acc	p.A208T		NM_004711.4	NP_004702.2	O43759	SNG1_HUMAN	synaptogyrin 1	208					protein targeting (GO:0006605)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle membrane (GO:0030672)		p.A208T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					GCCGGATCCCGCCGGTATGGG	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		13663	0.0		0.001	False		,,,				2504	0.0					uc003axq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(622-624)GCC>ACC		synaptogyrin 1 isoform 1a							26.0	28.0	27.0					22																	39777839		2198	4292	6490	SO:0001583	missense	9145				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity	cell junction|integral to plasma membrane|melanosome		g.chr22:39777839G>A	AJ002303	CCDS13989.1, CCDS13990.1, CCDS13991.1	22q13	2008-06-10			ENSG00000100321	ENSG00000100321			11498	protein-coding gene	gene with protein product		603925				9760194, 10595519	Standard	NM_004711		Approved			O43759	OTTHUMG00000030978	ENST00000328933.5:c.622G>A	22.37:g.39777839G>A	ENSP00000332287:p.Ala208Thr					TAB1_uc003axr.2_Intron	p.A208T	NM_004711	NP_004702	O43759	SNG1_HUMAN			4	684	+	Melanoma(58;0.04)		208					A6NP69|A8K0E2|O43757|O43758|Q53Y02|Q96J56|Q9UGZ4	Missense_Mutation	SNP	ENST00000328933.5	37	c.622G>A	CCDS13989.1	.	.	.	.	.	.	.	.	.	.	G	2.600	-0.293208	0.05568	.	.	ENSG00000100321	ENST00000328933	T	0.63417	-0.04	4.36	-3.13	0.05266	.	0.874010	0.09963	N	0.733233	T	0.31009	0.0783	N	0.08118	0	0.46901	D	0.999247	B	0.02656	0.0	B	0.01281	0.0	T	0.22977	-1.0201	10	0.11794	T	0.64	.	4.095	0.09986	0.5498:0.1092:0.2298:0.1112	.	208	O43759	SNG1_HUMAN	T	208	ENSP00000332287:A208T	ENSP00000332287:A208T	A	+	1	0	SYNGR1	38107785	0.000000	0.05858	0.003000	0.11579	0.118000	0.20060	0.036000	0.13819	-0.597000	0.05813	0.462000	0.41574	GCC		PASS	0.687	SYNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075866.2	NM_004711		13	25	13	25	---	---	---	---
MIEF1	54471	broad.mit.edu	37	22	39908484	39908484	+	Silent	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr22:39908484C>G	ENST00000325301.2	+	5	994	c.570C>G	c.(568-570)ctC>ctG	p.L190L	MIEF1_ENST00000404569.1_Silent_p.L190L|MIEF1_ENST00000402881.1_Silent_p.L190L	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	190	Dimerization.				mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)	p.L190L(1)									GTGGCAGCCTCTACGATGACC	0.572																																						uc003axx.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(568-570)CTC>CTG		hypothetical protein LOC54471							57.0	48.0	51.0					22																	39908484		2203	4300	6503	SO:0001819	synonymous_variant	54471					integral to membrane|mitochondrion		g.chr22:39908484C>G	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.570C>G	22.37:g.39908484C>G						SMCR7L_uc003axw.2_Silent_p.L190L|SMCR7L_uc010gxz.1_Silent_p.L12L|SMCR7L_uc003axy.2_Silent_p.L12L	p.L190L	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN			5	1068	+	Melanoma(58;0.04)		190					Q7L890|Q9BUI3	Silent	SNP	ENST00000325301.2	37	c.570C>G	CCDS13995.1																																																																																				PASS	0.572	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008		16	70	16	70	---	---	---	---
CACNA1I	8911	broad.mit.edu	37	22	40061891	40061891	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr22:40061891C>G	ENST00000402142.3	+	23	3984	c.3984C>G	c.(3982-3984)ttC>ttG	p.F1328L	CACNA1I_ENST00000404898.1_Missense_Mutation_p.F1293L|CACNA1I_ENST00000336649.4_Missense_Mutation_p.F1334L|CACNA1I_ENST00000401624.1_Missense_Mutation_p.F1328L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.F1293L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.F1293L	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1328					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.F1328L(1)|p.F1293L(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCAGCTCTTCAAGGGCAAGT	0.567																																						uc003ayc.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(3982-3984)TTC>TTG		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						121.0	129.0	127.0					22																	40061891		2081	4200	6281	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40061891C>G	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3984C>G	22.37:g.40061891C>G	ENSP00000385019:p.Phe1328Leu					CACNA1I_uc003ayd.2_Missense_Mutation_p.F1293L|CACNA1I_uc003aye.2_Missense_Mutation_p.F1243L|CACNA1I_uc003ayf.2_Missense_Mutation_p.F1208L	p.F1328L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN			23	3984	+	Melanoma(58;0.0749)		1328			Extracellular (Potential).|III.		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.3984C>G	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106071	0.77096	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.99089	-5.41;-5.41;-5.41;-5.41;-5.41;-5.41	4.3	4.3	0.51218	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99115	0.9695	M	0.83603	2.65	0.49299	D	0.99977	D;D;D;D	0.71674	0.996;0.998;0.998;0.995	D;D;D;D	0.79108	0.98;0.987;0.987;0.992	D	0.99429	1.0935	10	0.87932	D	0	.	10.4524	0.44531	0.0:0.9087:0.0:0.0913	.	1293;1328;1293;1328	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	L	1328;1293;1328;1293;1334;1293	ENSP00000385019:F1328L;ENSP00000384093:F1293L;ENSP00000383887:F1328L;ENSP00000385680:F1293L;ENSP00000337829:F1334L;ENSP00000383028:F1293L	ENSP00000337829:F1334L	F	+	3	2	CACNA1I	38391837	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	1.920000	0.40025	1.915000	0.55452	0.462000	0.41574	TTC		PASS	0.567	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		39	147	39	147	---	---	---	---
SMC1B	27127	broad.mit.edu	37	22	45789624	45789624	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr22:45789624G>C	ENST00000357450.4	-	9	1434	c.1435C>G	c.(1435-1437)Ctt>Gtt	p.L479V	SMC1B_ENST00000404354.3_Missense_Mutation_p.L479V	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	479					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.L479V(2)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTTCTAATAAGATTCAATTCT	0.373																																						uc003bgc.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1435-1437)CTT>GTT		SMC1 structural maintenance of chromosomes							111.0	99.0	103.0					22																	45789624		1830	4086	5916	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45789624G>C	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.1435C>G	22.37:g.45789624G>C	ENSP00000350036:p.Leu479Val					SMC1B_uc003bgd.2_Missense_Mutation_p.L479V|SMC1B_uc003bge.1_Missense_Mutation_p.L262V	p.L479V	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	9	1487	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	479			Potential.		A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.1435C>G	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	G	9.094	1.002413	0.19121	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	D;D	0.85629	-2.01;-2.01	6.07	2.83	0.33086	SMCs flexible hinge (1);RecF/RecN/SMC (1);	0.926425	0.09063	N	0.854019	T	0.66076	0.2753	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.12013	0.001;0.005;0.003	B;B;B	0.19666	0.002;0.026;0.016	T	0.54556	-0.8276	10	0.30854	T	0.27	.	2.1852	0.03885	0.1534:0.1145:0.4661:0.266	.	479;479;479	Q8NDV3;Q8NDV3-2;Q8NDV3-3	SMC1B_HUMAN;.;.	V	479	ENSP00000350036:L479V;ENSP00000385902:L479V	ENSP00000350036:L479V	L	-	1	0	SMC1B	44168288	0.021000	0.18746	0.790000	0.31976	0.850000	0.48378	0.822000	0.27352	0.864000	0.35578	0.585000	0.79938	CTT		PASS	0.373	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		17	53	17	53	---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46859695	46859695	+	Silent	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr22:46859695G>A	ENST00000262738.3	-	2	4091	c.4092C>T	c.(4090-4092)atC>atT	p.I1364I	CELSR1_ENST00000395964.1_Silent_p.I1364I	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1364	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.I1364I(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGCAGAGGTCGATCTCCGTCT	0.697																																						uc003bhw.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(4090-4092)ATC>ATT		cadherin EGF LAG seven-pass G-type receptor 1							33.0	32.0	32.0					22																	46859695		2198	4297	6495	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46859695G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.4092C>T	22.37:g.46859695G>A							p.I1364I	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	2	4092	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1364			Extracellular (Potential).|EGF-like 2; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.4092C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295364	0.23564	.	.	ENSG00000075275	ENST00000454637	.	.	.	4.75	0.0782	0.14411	.	.	.	.	.	T	0.55545	0.1927	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48790	-0.9004	4	.	.	.	.	9.0248	0.36222	0.5663:0.0:0.4337:0.0	.	.	.	.	L	739	.	.	S	-	2	0	CELSR1	45238359	0.682000	0.27624	0.999000	0.59377	0.907000	0.53573	-0.154000	0.10130	0.076000	0.16826	-0.140000	0.14226	TCG		PASS	0.697	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		8	20	8	20	---	---	---	---
RBBP7	5931	broad.mit.edu	37	X	16881153	16881153	+	Silent	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chrX:16881153G>A	ENST00000380087.2	-	3	592	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L	RBBP7_ENST00000404022.1_Silent_p.L78L|RBBP7_ENST00000380084.4_Silent_p.L122L			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	78					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)	p.L78L(1)		biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					GCAACCACCAGATGATTCTGC	0.408																																						uc004cxt.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(232-234)CTG>TTG		retinoblastoma binding protein 7							147.0	122.0	131.0					X																	16881153		2203	4300	6503	SO:0001819	synonymous_variant	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16881153G>A	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.232C>T	X.37:g.16881153G>A						RBBP7_uc004cxs.1_Silent_p.L122L|RBBP7_uc004cxu.2_Silent_p.L78L	p.L78L	NM_002893	NP_002884	Q16576	RBBP7_HUMAN			3	590	-	Hepatocellular(33;0.0997)		78			WD 1.		Q5JP00	Silent	SNP	ENST00000380087.2	37	c.232C>T	CCDS14179.1																																																																																				PASS	0.408	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		19	31	19	31	---	---	---	---
SPANXN5	494197	broad.mit.edu	37	X	52825601	52825601	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chrX:52825601G>A	ENST00000375511.3	-	2	898	c.146C>T	c.(145-147)tCa>tTa	p.S49L		NM_001009616.3	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	49								p.S49L(1)		large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					TAATACTGTTGAATATTCTGA	0.413																																						uc004drc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(145-147)TCA>TTA		SPANX family, member N5							224.0	186.0	199.0					X																	52825601		2203	4300	6503	SO:0001583	missense	494197							g.chrX:52825601G>A		CCDS35295.1	Xp11.22	2009-03-25				ENSG00000204363			33178	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 10"""	300668				14973187, 17012309	Standard	NM_001009616		Approved	SPANX-N5, CT11.10	uc004drc.1	Q5MJ07		ENST00000375511.3:c.146C>T	X.37:g.52825601G>A	ENSP00000364661:p.Ser49Leu						p.S49L	NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN			2	146	-	Ovarian(276;0.236)		49						Missense_Mutation	SNP	ENST00000375511.3	37	c.146C>T	CCDS35295.1	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.766948	0.00645	.	.	ENSG00000204363	ENST00000375511	T	0.08720	3.06	0.199	-0.397	0.12423	.	.	.	.	.	T	0.05135	0.0137	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.41215	-0.9521	7	0.37606	T	0.19	.	.	.	.	.	49	Q5MJ07	SPXN5_HUMAN	L	49	ENSP00000364661:S49L	ENSP00000364661:S49L	S	-	2	0	SPANXN5	52842326	0.007000	0.16637	0.002000	0.10522	0.002000	0.02628	0.227000	0.17795	-0.747000	0.04759	-0.735000	0.03563	TCA		PASS	0.413	SPANXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056690.2	NM_001009616		4	36	4	36	---	---	---	---
NSDHL	50814	broad.mit.edu	37	X	152037559	152037559	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chrX:152037559G>A	ENST00000370274.3	+	8	1215	c.1021G>A	c.(1021-1023)Gag>Aag	p.E341K	NSDHL_ENST00000440023.1_Missense_Mutation_p.E341K	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	341					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)	p.E341K(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTACAGCTGCGAGAGAGCCAA	0.582																																						uc004fgt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1021-1023)GAG>AAG		NAD(P) dependent steroid dehydrogenase-like	NADH(DB00157)						65.0	50.0	55.0					X																	152037559		2203	4300	6503	SO:0001583	missense	50814				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity	g.chrX:152037559G>A	X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.1021G>A	X.37:g.152037559G>A	ENSP00000359297:p.Glu341Lys					NSDHL_uc004fgs.1_Missense_Mutation_p.E341K	p.E341K	NM_001129765	NP_001123237	Q15738	NSDHL_HUMAN			9	1282	+	Acute lymphoblastic leukemia(192;6.56e-05)		341					D3DWT6|O00344	Missense_Mutation	SNP	ENST00000370274.3	37	c.1021G>A	CCDS14717.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.854060	0.32791	.	.	ENSG00000147383	ENST00000370274;ENST00000440023	D;D	0.88354	-2.37;-2.37	4.4	4.4	0.53042	.	0.258488	0.38663	N	0.001610	D	0.82513	0.5053	L	0.35723	1.085	0.39179	D	0.962749	B	0.22346	0.068	B	0.14578	0.011	T	0.78871	-0.2033	10	0.19590	T	0.45	-14.0496	14.1228	0.65201	0.0:0.0:1.0:0.0	.	341	Q15738	NSDHL_HUMAN	K	341	ENSP00000359297:E341K;ENSP00000391854:E341K	ENSP00000359297:E341K	E	+	1	0	NSDHL	151788215	1.000000	0.71417	0.024000	0.17045	0.611000	0.37282	5.502000	0.66956	2.126000	0.65437	0.544000	0.68410	GAG		PASS	0.582	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060927.1	NM_015922		17	24	17	24	---	---	---	---
DUSP9	1852	broad.mit.edu	37	X	152915069	152915069	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chrX:152915069C>A	ENST00000342782.3	+	3	1021	c.756C>A	c.(754-756)taC>taA	p.Y252*	DUSP9_ENST00000370167.4_Nonsense_Mutation_p.Y252*			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	252	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Y252*(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTCACTACAAGCAGATCC	0.557																																						uc004fhx.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(754-756)TAC>TAA		dual specificity phosphatase 9							105.0	108.0	107.0					X																	152915069		2203	4300	6503	SO:0001587	stop_gained	1852				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:152915069C>A	Y08302	CCDS14724.1	Xq28	2011-06-09			ENSG00000130829	ENSG00000130829		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3076	protein-coding gene	gene with protein product	"""map kinase phosphatase 4"""	300134				9030581, 9286695	Standard	NM_001395		Approved	MKP-4, MKP4	uc004fhx.4	Q99956	OTTHUMG00000024211	ENST00000342782.3:c.756C>A	X.37:g.152915069C>A	ENSP00000345853:p.Tyr252*					DUSP9_uc004fhy.3_Nonsense_Mutation_p.Y252*	p.Y252*	NM_001395	NP_001386	Q99956	DUS9_HUMAN			3	960	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		252			Tyrosine-protein phosphatase.		D3DWU5	Nonsense_Mutation	SNP	ENST00000342782.3	37	c.756C>A	CCDS14724.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	38|38	6.674221|6.674221	0.97751|0.97751	.|.	.|.	ENSG00000130829|ENSG00000130829	ENST00000433144|ENST00000370167;ENST00000342782	.|.	.|.	.|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	.|0.000000	.|0.64402	.|D	.|0.000006	T|.	0.44030|.	0.1274|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.41858|.	-0.9485|.	3|.	.|0.02654	.|T	.|1	.|.	16.9399|16.9399	0.86215|0.86215	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	223|252	.|.	.|ENSP00000345853:Y252X	T|Y	+|+	2|3	0|2	DUSP9|DUSP9	152568263|152568263	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.671000|7.671000	0.83941|0.83941	2.262000|2.262000	0.75019|0.75019	0.529000|0.529000	0.55759|0.55759	ACA|TAC		PASS	0.557	DUSP9-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061022.3	NM_001395		9	232	9	232	---	---	---	---
NRG2	9542	broad.mit.edu	37	5	139422532	139422534	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr5:139422532_139422534delGCT	ENST00000361474.1	-	1	345_347	c.121_123delAGC	c.(121-123)agcdel	p.S41del	NRG2_ENST00000394770.1_In_Frame_Del_p.S41del|NRG2_ENST00000541337.1_In_Frame_Del_p.S41del|NRG2_ENST00000289409.4_In_Frame_Del_p.S41del|NRG2_ENST00000358522.3_In_Frame_Del_p.S41del|NRG2_ENST00000289422.7_In_Frame_Del_p.S41del|NRG2_ENST00000545385.1_In_Frame_Del_p.S41del	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	41	Poly-Ser.				embryo development (GO:0009790)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.S41delS(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tgccgctctcgctgctgctgctg	0.7																																						uc003lex.1																			2	Deletion - In frame(2)		soft_tissue(1)|central_nervous_system(1)	pancreas(2)|breast(2)|ovary(1)|skin(1)	6						c.(121-123)AGCdel		neuregulin 2 isoform 1			,,,,	9,5,109,1819		2,0,0,5,1,0,3,19,71,870					,,,,	0.6	0.8			4	20,40,281,3927		5,0,1,9,12,0,16,38,204,1849	no	codingComplex,codingComplex,codingComplex,codingComplex,codingComplex	NRG2	NM_013983.2,NM_013982.2,NM_013981.3,NM_004883.2,NM_001184935.1	,,,,	7,0,1,14,13,0,19,57,275,2719	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		7.9897,6.3337,7.4718	,,,,	,,,,		29,45,390,5746				SO:0001651	inframe_deletion	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139422532_139422534delGCT		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.121_123delAGC	5.37:g.139422541_139422543delGCT	ENSP00000354910:p.Ser41del					NRG2_uc003lev.1_In_Frame_Del_p.S41del|NRG2_uc003lew.1_In_Frame_Del_p.S41del|NRG2_uc003ley.1_In_Frame_Del_p.S41del	p.S41del	NM_004883	NP_004874	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	346_348	-			41			Poly-Ser.			In_Frame_Del	DEL	ENST00000361474.1	37	c.121_123delAGC	CCDS4217.1																																																																																					0.700	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	NM_013982		6	3	6	3	---	---	---	---
TRAF3	7187	broad.mit.edu	37	14	103372057	103372063	+	Frame_Shift_Del	DEL	ATATTAA	ATATTAA	-	rs370725073		TCGA-33-4547-01A-01D-1267-08	TCGA-33-4547-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	7e622fc2-06c5-4686-a885-e407725c2f08	4bd53437-8c85-40cb-8f40-2eef0244a539	g.chr14:103372057_103372063delATATTAA	ENST00000560371.1	+	11	1860_1866	c.1643_1649delATATTAA	c.(1642-1650)tatattaaafs	p.YIK548fs	TRAF3_ENST00000392745.2_Frame_Shift_Del_p.YIK548fs|TRAF3_ENST00000351691.5_Frame_Shift_Del_p.YIK523fs|TRAF3_ENST00000347662.4_Frame_Shift_Del_p.YIK523fs|TRAF3_ENST00000539721.1_Frame_Shift_Del_p.YIK465fs	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	548	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				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)			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)		AATGGGACATATATTAAAGATGATACA	0.459																																						uc001ymc.1																			0				ovary(1)|lung(1)|breast(1)	3						c.(1642-1650)TATATTAAAfs		TNF receptor-associated factor 3 isoform 1																																				SO:0001589	frameshift_variant	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.chr14:103372057_103372063delATATTAA	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.1643_1649delATATTAA	14.37:g.103372057_103372063delATATTAA	ENSP00000454207:p.Tyr548fs					TRAF3_uc001yme.1_Frame_Shift_Del_p.Y523fs|TRAF3_uc001ymd.1_Frame_Shift_Del_p.Y548fs|TRAF3_uc010txy.1_Frame_Shift_Del_p.Y465fs	p.Y548fs	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	1996_2002	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	548_550			MATH.		B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Frame_Shift_Del	DEL	ENST00000560371.1	37	c.1643_1649delATATTAA	CCDS9975.1																																																																																					0.459	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		71	63	71	63	---	---	---	---
