#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_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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
PLCH2	9651	broad.mit.edu	37	1	2409941	2409941	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:2409941G>A	ENST00000419816.2	+	2	425	c.151G>A	c.(151-153)Gag>Aag	p.E51K	PLCH2_ENST00000288766.5_Missense_Mutation_p.E6K|PLCH2_ENST00000378488.3_Missense_Mutation_p.E51K|PLCH2_ENST00000449969.1_Missense_Mutation_p.E24K|PLCH2_ENST00000378486.3_Missense_Mutation_p.E51K			O75038	PLCH2_HUMAN	phospholipase C, eta 2	51	Necessary for plasma membrane localization. {ECO:0000250}.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TGCCATGCAAGAGGGGATGCA	0.662																																						uc001aji.1		NaN																	0				central_nervous_system(3)|ovary(1)|skin(1)	5						c.(151-153)GAG>AAG		phospholipase C, eta 2							63.0	72.0	69.0					1																	2409941		2200	4296	6496	SO:0001583	missense	9651				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr1:2409941G>A	AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.151G>A	1.37:g.2409941G>A	ENSP00000389803:p.Glu51Lys					PLCH2_uc010nyz.1_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	p.E51K	NM_014638	NP_055453	O75038	PLCH2_HUMAN		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)	2	425	+	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	51			PH.|Necessary for plasma membrane localization (By similarity).		A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	ENST00000419816.2	37	c.151G>A		.	.	.	.	.	.	.	.	.	.	G	17.00	3.275436	0.59649	.	.	ENSG00000149527	ENST00000449969;ENST00000378486;ENST00000378488;ENST00000288766;ENST00000378483	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.57	4.57	0.56435	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.420019	0.23491	N	0.047605	T	0.46171	0.1379	N	0.11131	0.1	0.23132	N	0.998242	B	0.22480	0.07	B	0.22386	0.039	T	0.51012	-0.8759	10	0.87932	D	0	.	16.3098	0.82864	0.0:0.0:1.0:0.0	.	51	O75038	PLCH2_HUMAN	K	24;51;51;6;6	ENSP00000397289:E24K;ENSP00000367747:E51K;ENSP00000367749:E51K;ENSP00000288766:E6K	ENSP00000288766:E6K	E	+	1	0	PLCH2	2399801	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.652000	0.46682	2.082000	0.62665	0.561000	0.74099	GAG		0.662	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1		NM_014638		14	46	0	0	0	0.000308642	0	14	46		
CNR2	1269	broad.mit.edu	37	1	24201432	24201432	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:24201432G>A	ENST00000374472.4	-	2	837	c.676C>T	c.(676-678)Cac>Tac	p.H226Y	CNR2_ENST00000536471.1_Missense_Mutation_p.H226Y	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	226					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	CTGTCCTGGTGGCCAGACAAG	0.567																																						uc001bif.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(676-678)CAC>TAC		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)						62.0	56.0	58.0					1																	24201432		2203	4300	6503	SO:0001583	missense	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201432G>A	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.676C>T	1.37:g.24201432G>A	ENSP00000363596:p.His226Tyr						p.H226Y	NM_001841	NP_001832	P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	2	803	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	226			Cytoplasmic (Potential).		C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	c.676C>T	CCDS245.1	.	.	.	.	.	.	.	.	.	.	G	0.607	-0.826593	0.02734	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.72051	-0.62;-0.62	5.89	4.8	0.61643	GPCR, rhodopsin-like superfamily (1);	0.161460	0.42548	D	0.000697	T	0.67543	0.2904	L	0.51422	1.61	0.38600	D	0.95063	B	0.15141	0.012	B	0.23852	0.049	T	0.68036	-0.5515	10	0.59425	D	0.04	.	15.9365	0.79712	0.0748:0.0:0.9252:0.0	.	226	P34972	CNR2_HUMAN	Y	226	ENSP00000363596:H226Y;ENSP00000442830:H226Y	ENSP00000363596:H226Y	H	-	1	0	CNR2	24074019	1.000000	0.71417	0.994000	0.49952	0.287000	0.27160	6.291000	0.72719	2.782000	0.95742	0.557000	0.71058	CAC		0.567	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1		NM_001841		15	31	0	0	0	0.000422831	0	15	31		
MAP7D1	55700	broad.mit.edu	37	1	36636771	36636771	+	Silent	SNP	G	G	A	rs200123517		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:36636771G>A	ENST00000373151.2	+	2	462	c.246G>A	c.(244-246)ccG>ccA	p.P82P	MAP7D1_ENST00000373150.4_Silent_p.P82P|MAP7D1_ENST00000316156.4_Silent_p.P82P	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	82	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)		p.P82P(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CAGCCCCCCCGCAGGAAGAGT	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		13390	0.0		0.001	False		,,,				2504	0.0					uc001bzz.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(3)|breast(2)	5						c.(244-246)CCG>CCA		MAP7 domain containing 1		G		0,4406		0,0,2203	39.0	42.0	41.0		246	-4.1	0.0	1		41	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MAP7D1	NM_018067.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		82/842	36636771	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55700					cytoplasm|spindle		g.chr1:36636771G>A	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.246G>A	1.37:g.36636771G>A						MAP7D1_uc001caa.2_Silent_p.P82P|MAP7D1_uc001cab.2_Silent_p.P82P|MAP7D1_uc001cac.2_5'Flank	p.P82P	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN			2	462	+		Myeloproliferative disorder(586;0.0393)	82			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Silent	SNP	ENST00000373151.2	37	c.246G>A	CCDS30673.1																																																																																				0.647	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1		NM_018067		33	55	0	0	0	0.000339439	0	33	55		
HFM1	164045	broad.mit.edu	37	1	91778984	91778984	+	Missense_Mutation	SNP	T	T	C	rs201592712		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:91778984T>C	ENST00000370425.3	-	30	3411	c.3313A>G	c.(3313-3315)Act>Gct	p.T1105A	HFM1_ENST00000294696.5_Missense_Mutation_p.T337A|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Missense_Mutation_p.T784A	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1105					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTTTGCATAGTGATTTGATTT	0.323																																						uc001doa.3		NaN																	0					0						c.(3313-3315)ACT>GCT		HFM1 protein							112.0	112.0	112.0					1																	91778984		2201	4295	6496	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91778984T>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3313A>G	1.37:g.91778984T>C	ENSP00000359454:p.Thr1105Ala					HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Missense_Mutation_p.T784A|HFM1_uc001dob.3_Missense_Mutation_p.T293A|HFM1_uc010osv.1_Missense_Mutation_p.T789A	p.T1105A	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	30	3413	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	1105					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.3313A>G	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	1.070	-0.670335	0.03403	.	.	ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421	T;T;T	0.62788	0.37;0.69;-0.0	5.57	0.76	0.18442	.	0.667199	0.14008	N	0.347674	T	0.15132	0.0365	N	0.04959	-0.14	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.26395	-1.0104	10	0.28530	T	0.3	.	6.1193	0.20144	0.0:0.2492:0.135:0.6158	.	784;316;1105	A6NGI5;B1B0B5;A2PYH4	.;.;HFM1_HUMAN	A	1105;337;784;789	ENSP00000359454:T1105A;ENSP00000294696:T337A;ENSP00000359453:T784A	ENSP00000294696:T337A	T	-	1	0	HFM1	91551572	0.010000	0.17322	0.719000	0.30619	0.107000	0.19398	0.068000	0.14531	0.406000	0.25560	0.482000	0.46254	ACT		0.323	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2		NM_001017975		37	51	0	0	0	0.00111076	0	37	51		
LCE1E	353135	broad.mit.edu	37	1	152760035	152760035	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:152760035G>A	ENST00000368770.3	+	2	313	c.260G>A	c.(259-261)cGt>cAt	p.R87H	LCE1E_ENST00000368771.1_Missense_Mutation_p.R87H	NM_178353.1	NP_848130.1	Q5T753	LCE1E_HUMAN	late cornified envelope 1E	87	Cys-rich.				keratinization (GO:0031424)					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGTCCCACCGTCACAGACCC	0.687																																						uc001fan.2		NaN																	0					0						c.(259-261)CGT>CAT		late cornified envelope 1E							36.0	47.0	43.0					1																	152760035		2199	4298	6497	SO:0001583	missense	353135				keratinization			g.chr1:152760035G>A	BC038391	CCDS1024.1	1q21.3	2008-02-05			ENSG00000186226	ENSG00000186226		"""Late cornified envelopes"""	29466	protein-coding gene	gene with protein product		612607				11698679	Standard	NM_178353		Approved	LEP5	uc001fan.3	Q5T753	OTTHUMG00000012405	ENST00000368770.3:c.260G>A	1.37:g.152760035G>A	ENSP00000357759:p.Arg87His						p.R87H	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	313	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		87			Cys-rich.		D3DV30	Missense_Mutation	SNP	ENST00000368770.3	37	c.260G>A	CCDS1024.1	.	.	.	.	.	.	.	.	.	.	G	0.443	-0.897683	0.02472	.	.	ENSG00000186226	ENST00000368771;ENST00000368770	T;T	0.04156	3.69;3.69	3.95	-0.144	0.13440	.	0.705520	0.11749	N	0.533208	T	0.01870	0.0059	L	0.58354	1.805	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.41680	-0.9495	10	0.87932	D	0	.	6.6275	0.22839	0.434:0.0:0.566:0.0	.	87	Q5T753	LCE1E_HUMAN	H	87	ENSP00000357760:R87H;ENSP00000357759:R87H	ENSP00000357759:R87H	R	+	2	0	LCE1E	151026659	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.202000	0.17295	-0.123000	0.11745	-1.206000	0.01644	CGT		0.687	LCE1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034525.1		NM_178353		7	112	0	0	0	0.000442599	0	7	112		
FCER1A	2205	broad.mit.edu	37	1	159275915	159275915	+	Missense_Mutation	SNP	G	G	A	rs374481114		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:159275915G>A	ENST00000368115.1	+	5	568	c.469G>A	c.(469-471)Gag>Aag	p.E157K	FCER1A_ENST00000368114.1_Missense_Mutation_p.E124K	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	157	Ig-like 2.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GTACTGGTATGAGAACCACAA	0.502																																						uc001ftq.2		NaN																	0				lung(2)|skin(2)|prostate(1)	5						c.(469-471)GAG>AAG		Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	G	LYS/GLU	0,4406		0,0,2203	180.0	158.0	165.0		469	4.8	0.3	1		165	1,8599	1.2+/-3.3	0,1,4299	no	missense	FCER1A	NM_002001.3	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	157/258	159275915	1,13005	2203	4300	6503	SO:0001583	missense	2205					integral to plasma membrane		g.chr1:159275915G>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.469G>A	1.37:g.159275915G>A	ENSP00000357097:p.Glu157Lys						p.E157K	NM_002001	NP_001992	P12319	FCERA_HUMAN			5	568	+	all_hematologic(112;0.0429)		157			Ig-like 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000368115.1	37	c.469G>A	CCDS1184.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146834	0.77888	0.0	1.16E-4	ENSG00000179639	ENST00000368115;ENST00000368114	T;T	0.12361	2.69;2.69	4.78	4.78	0.61160	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.388279	0.22202	N	0.063239	T	0.13200	0.0320	L	0.39397	1.21	0.30567	N	0.763889	D	0.65815	0.995	P	0.60345	0.873	T	0.02546	-1.1143	10	0.32370	T	0.25	.	13.1928	0.59722	0.0:0.0:1.0:0.0	.	157	P12319	FCERA_HUMAN	K	157;124	ENSP00000357097:E157K;ENSP00000357096:E124K	ENSP00000357096:E124K	E	+	1	0	FCER1A	157542539	0.998000	0.40836	0.254000	0.24359	0.995000	0.86356	2.964000	0.49192	2.470000	0.83445	0.650000	0.86243	GAG		0.502	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2		NM_002001		8	39	0	0	0	0.000274275	0	8	39		
RC3H1	149041	broad.mit.edu	37	1	173907942	173907942	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:173907942G>C	ENST00000367696.2	-	20	3670	c.3319C>G	c.(3319-3321)Ctg>Gtg	p.L1107V	RC3H1_ENST00000367694.2_Missense_Mutation_p.L1099V|RC3H1_ENST00000258349.4_Missense_Mutation_p.L1107V			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	1107					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						GACAGGTTCAGAGAGCTGGTC	0.443																																						uc001gju.3		NaN																	0				ovary(2)	2						c.(3319-3321)CTG>GTG		roquin							113.0	110.0	111.0					1																	173907942		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173907942G>C	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.3319C>G	1.37:g.173907942G>C	ENSP00000356669:p.Leu1107Val					RC3H1_uc010pms.1_Missense_Mutation_p.L1098V|RC3H1_uc001gjv.2_Missense_Mutation_p.L1099V|RC3H1_uc010pmt.1_Missense_Mutation_p.L1108V	p.L1107V	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN			19	3406	-			1107					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.3319C>G	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881412	0.51801	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	T;T;T	0.54479	0.58;0.58;0.57	5.82	3.91	0.45181	.	0.066827	0.64402	D	0.000013	T	0.46132	0.1377	L	0.27053	0.805	0.44976	D	0.997997	D;D;D;D	0.67145	0.993;0.993;0.996;0.993	D;D;D;D	0.75484	0.967;0.967;0.986;0.967	T	0.53878	-0.8376	10	0.72032	D	0.01	-9.1879	9.3911	0.38374	0.2206:0.0:0.7794:0.0	.	1108;1098;1099;1107	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	V	1107;1107;1099	ENSP00000356669:L1107V;ENSP00000258349:L1107V;ENSP00000356667:L1099V	ENSP00000258349:L1107V	L	-	1	2	RC3H1	172174565	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	1.936000	0.40183	1.434000	0.47414	0.655000	0.94253	CTG		0.443	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2		NM_172071		31	65	0	0	0	0.000279167	0	31	65		
NUAK2	81788	broad.mit.edu	37	1	205273537	205273537	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:205273537G>A	ENST00000367157.3	-	7	1054	c.928C>T	c.(928-930)Cga>Tga	p.R310*		NM_030952.1	NP_112214.1			NUAK family, SNF1-like kinase, 2											breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TCTCCCACTCGGGTGGCGTAG	0.692																																						uc001hce.2		NaN																	0				ovary(3)|stomach(1)|breast(1)	5						c.(928-930)CGA>TGA		NUAK family, SNF1-like kinase, 2																																				SO:0001587	stop_gained	81788				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:205273537G>A	AK074830	CCDS1453.1	1q32.1	2008-02-05			ENSG00000163545	ENSG00000163545			29558	protein-coding gene	gene with protein product	"""SNF1/AMP activated protein kinase"""	608131				11230166	Standard	NM_030952		Approved	SNARK, FLJ90349	uc001hce.3	Q9H093	OTTHUMG00000037196	ENST00000367157.3:c.928C>T	1.37:g.205273537G>A	ENSP00000356125:p.Arg310*						p.R310*	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		7	1055	-	Breast(84;0.186)		310						Nonsense_Mutation	SNP	ENST00000367157.3	37	c.928C>T	CCDS1453.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080288	0.55753	.	.	ENSG00000163545	ENST00000367157	.	.	.	5.12	2.19	0.27852	.	0.728198	0.11873	N	0.521230	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	8.3372	0.32221	0.1453:0.128:0.7266:0.0	.	.	.	.	X	310	.	ENSP00000356125:R310X	R	-	1	2	NUAK2	203540160	0.494000	0.26043	0.267000	0.24556	0.065000	0.16274	0.555000	0.23422	0.173000	0.19788	0.511000	0.50034	CGA		0.692	NUAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090390.1		NM_030952		5	18	0	0	0	0.000602214	0	5	18		
ADCK3	56997	broad.mit.edu	37	1	227153387	227153388	+	Missense_Mutation	DNP	CG	CG	AT	rs145350362		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:227153387_227153388CG>AT	ENST00000366779.1	+	9	3375_3376	c.604_605CG>AT	c.(604-606)CGg>ATg	p.R202M	ADCK3_ENST00000366778.1_Missense_Mutation_p.R150M|ADCK3_ENST00000366777.3_Missense_Mutation_p.R202M|ADCK3_ENST00000433743.2_De_novo_Start_OutOfFrame|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000478406.1_Intron			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	202					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R202Q(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CGAGCATGCCCGGGAGCGGAAG	0.639																																						uc001hqm.1		NaN																	1	Substitution - Missense(1)		stomach(1)		0						c.(604-606)CGG>ATG		chaperone, ABC1 activity of bc1 complex like																																				SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227153387_227153388CG>AT	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	Exception_encountered	1.37:g.227153387_227153388delinsAT	ENSP00000355741:p.Arg202Met					CABC1_uc001hqn.1_Missense_Mutation_p.R202M|CABC1_uc009xeq.1_Missense_Mutation_p.R150M|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_Translation_Start_Site	p.R202M	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN			9	4023_4024	+		Prostate(94;0.0771)	202					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	DNP	ENST00000366779.1	37	c.604_605CG>AT	CCDS1557.1																																																																																				0.639	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1		NM_020247		6	65	0	0	0	6.4e-05	0	6	65		
OBSCN	84033	broad.mit.edu	37	1	228433250	228433250	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:228433250G>A	ENST00000422127.1	+	12	3662	c.3618G>A	c.(3616-3618)ctG>ctA	p.L1206L	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.L1206L|OBSCN_ENST00000570156.2_Silent_p.L1298L|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1206	Ig-like 12.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAAGAAGCTGAGCTCCAGCT	0.602																																						uc009xez.1		NaN																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(3616-3618)CTG>CTA		obscurin, cytoskeletal calmodulin and							100.0	98.0	98.0					1																	228433250		2087	4210	6297	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228433250G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3618G>A	1.37:g.228433250G>A						OBSCN_uc001hsn.2_Silent_p.L1206L	p.L1206L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			12	3662	+		Prostate(94;0.0405)	1206			Ig-like 12.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.3618G>A	CCDS58065.1																																																																																				0.602	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_052843		36	77	0	0	0	0.000953801	0	36	77		
PGBD5	79605	broad.mit.edu	37	1	230492669	230492669	+	Missense_Mutation	SNP	C	C	T	rs550927366		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:230492669C>T	ENST00000525115.1	-	2	546	c.523G>A	c.(523-525)Gac>Aac	p.D175N	PGBD5_ENST00000391860.1_Missense_Mutation_p.D129N|PGBD5_ENST00000321327.2_Missense_Mutation_p.D274N			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	175						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AAGGCAGAGTCGAAGCTGTTC	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20429	0.0		0.0	False		,,,				2504	0.0					uc010pwb.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(523-525)GAC>AAC		piggyBac transposable element derived 5							79.0	69.0	72.0					1																	230492669		2203	4300	6503	SO:0001583	missense	79605					integral to membrane		g.chr1:230492669C>T	AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.523G>A	1.37:g.230492669C>T	ENSP00000431404:p.Asp175Asn					PGBD5_uc001htv.2_Missense_Mutation_p.D274N	p.D175N	NM_024554	NP_078830	Q8N414	PGBD5_HUMAN		GBM - Glioblastoma multiforme(131;0.201)	2	523	-	Breast(184;0.0397)	Prostate(94;0.167)	175					A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	ENST00000525115.1	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	C	11.21	1.570202	0.28003	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.16743	2.32;2.32;2.32	5.87	3.97	0.46021	.	0.231309	0.51477	N	0.000082	T	0.09730	0.0239	N	0.14661	0.345	0.36038	D	0.83992	B	0.14012	0.009	B	0.10450	0.005	T	0.20338	-1.0278	10	0.16420	T	0.52	-37.6853	11.5456	0.50693	0.0:0.8069:0.1259:0.0673	.	175	Q8N414	PGBD5_HUMAN	N	129;274;175	ENSP00000375733:D129N;ENSP00000322530:D274N;ENSP00000431404:D175N	ENSP00000322530:D274N	D	-	1	0	PGBD5	228559292	1.000000	0.71417	0.117000	0.21633	0.478000	0.33099	3.961000	0.56759	0.791000	0.33826	0.655000	0.94253	GAC		0.612	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382617.1		NM_024554		6	102	0	0	0	0.000157383	0	6	102		
KIAA1217	56243	broad.mit.edu	37	10	24762637	24762637	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr10:24762637G>A	ENST00000376454.3	+	6	1357	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	KIAA1217_ENST00000458595.1_Missense_Mutation_p.E443K|KIAA1217_ENST00000396446.1_Missense_Mutation_p.E161K|KIAA1217_ENST00000430453.2_Missense_Mutation_p.E364K|KIAA1217_ENST00000396445.1_Missense_Mutation_p.E161K|KIAA1217_ENST00000376462.1_Missense_Mutation_p.E363K|KIAA1217_ENST00000307544.6_Missense_Mutation_p.E161K|KIAA1217_ENST00000376451.2_Missense_Mutation_p.E161K|KIAA1217_ENST00000376452.3_Missense_Mutation_p.E443K	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	443					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AATGCAAGCGGAAATGCATAT	0.517																																						uc001iru.3		NaN																	0				ovary(5)|skin(2)	7						c.(1327-1329)GAA>AAA		sickle tail isoform 1							82.0	70.0	74.0					10																	24762637		2203	4300	6503	SO:0001583	missense	56243				embryonic skeletal system development	cytoplasm		g.chr10:24762637G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1327G>A	10.37:g.24762637G>A	ENSP00000365637:p.Glu443Lys					KIAA1217_uc001irs.2_Missense_Mutation_p.E363K|KIAA1217_uc001irt.3_Missense_Mutation_p.E443K|KIAA1217_uc010qcy.1_Missense_Mutation_p.E443K|KIAA1217_uc010qcz.1_Missense_Mutation_p.E443K|KIAA1217_uc001irv.1_Missense_Mutation_p.E293K|KIAA1217_uc010qda.1_RNA|KIAA1217_uc001irw.2_Missense_Mutation_p.E161K|KIAA1217_uc001irz.2_Missense_Mutation_p.E161K|KIAA1217_uc001irx.2_Missense_Mutation_p.E161K|KIAA1217_uc001iry.2_Missense_Mutation_p.E161K	p.E443K	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			6	1730	+			443					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Missense_Mutation	SNP	ENST00000376454.3	37	c.1327G>A	CCDS31165.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.240979	0.58995	.	.	ENSG00000120549	ENST00000376462;ENST00000376456;ENST00000458595;ENST00000442879;ENST00000376454;ENST00000376452;ENST00000438429;ENST00000430453;ENST00000307544;ENST00000450158;ENST00000396445;ENST00000376451;ENST00000396446	T;T;T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.75	4.81	0.61882	.	0.196582	0.52532	D	0.000066	T	0.66829	0.2829	M	0.70275	2.135	0.50467	D	0.999876	D;D;D;D;D;D;D;P	0.89917	0.999;0.972;0.999;0.984;1.0;0.999;0.999;0.908	D;P;D;P;D;D;D;P	0.91635	0.997;0.655;0.997;0.857;0.999;0.997;0.996;0.492	T	0.70171	-0.4945	10	0.66056	D	0.02	.	13.3153	0.60403	0.0802:0.0:0.9198:0.0	.	443;443;161;161;161;161;443;443	Q5T5P2-7;A6NLF3;Q5T5P2-4;Q5T5P2-8;Q5T5P2-3;Q5T5P2-6;Q5T5P2;Q5T5P2-2	.;.;.;.;.;.;SKT_HUMAN;.	K	363;443;443;161;443;443;293;364;161;161;161;161;161	ENSP00000365645:E363K;ENSP00000365639:E443K;ENSP00000392625:E443K;ENSP00000365637:E443K;ENSP00000365635:E443K;ENSP00000404798:E293K;ENSP00000389680:E364K;ENSP00000302343:E161K;ENSP00000379722:E161K;ENSP00000365634:E161K;ENSP00000379723:E161K	ENSP00000302343:E161K	E	+	1	0	KIAA1217	24802643	1.000000	0.71417	0.046000	0.18839	0.244000	0.25665	6.643000	0.74334	1.360000	0.45960	0.655000	0.94253	GAA		0.517	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2		NM_019590		28	40	0	0	0	0.00106085	0	28	40		
PARD3	56288	broad.mit.edu	37	10	34648183	34648183	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr10:34648183C>G	ENST00000374789.3	-	14	2284	c.1959G>C	c.(1957-1959)aaG>aaC	p.K653N	PARD3_ENST00000374790.3_Missense_Mutation_p.K596N|PARD3_ENST00000346874.4_Missense_Mutation_p.K653N|PARD3_ENST00000374776.1_Missense_Mutation_p.K640N|PARD3_ENST00000340077.5_Missense_Mutation_p.K653N|PARD3_ENST00000374788.3_Missense_Mutation_p.K653N|PARD3_ENST00000545260.1_Missense_Mutation_p.K596N|PARD3_ENST00000545693.1_Missense_Mutation_p.K640N|PARD3_ENST00000374794.3_Missense_Mutation_p.K596N|PARD3_ENST00000544292.1_Missense_Mutation_p.K370N|PARD3_ENST00000350537.4_Missense_Mutation_p.K640N|PARD3_ENST00000374773.1_Missense_Mutation_p.K653N|PARD3_ENST00000374768.1_Missense_Mutation_p.K91N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	653	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				CTTGGTTTGTCTTGCCCAACA	0.413																																						uc010qej.1		NaN																	0				ovary(1)	1						c.(1957-1959)AAG>AAC		partitioning-defective protein 3 homolog							197.0	178.0	185.0					10																	34648183		2203	4300	6503	SO:0001583	missense	56288				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	g.chr10:34648183C>G	AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.1959G>C	10.37:g.34648183C>G	ENSP00000363921:p.Lys653Asn					PARD3_uc010qek.1_Missense_Mutation_p.K653N|PARD3_uc010qel.1_Missense_Mutation_p.K653N|PARD3_uc010qem.1_Missense_Mutation_p.K640N|PARD3_uc010qen.1_Missense_Mutation_p.K640N|PARD3_uc010qeo.1_Missense_Mutation_p.K640N|PARD3_uc010qep.1_Missense_Mutation_p.K596N|PARD3_uc010qeq.1_Missense_Mutation_p.K596N|PARD3_uc001ixo.1_Missense_Mutation_p.K370N|PARD3_uc001ixp.1_Missense_Mutation_p.K518N|PARD3_uc001ixq.1_Missense_Mutation_p.K640N|PARD3_uc001ixr.1_Missense_Mutation_p.K653N|PARD3_uc001ixt.1_Missense_Mutation_p.K474N|PARD3_uc001ixu.1_Missense_Mutation_p.K596N|PARD3_uc001ixs.1_Missense_Mutation_p.K306N	p.K653N	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN			14	1959	-		Breast(68;0.0707)	653			PDZ 3.		F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	ENST00000374789.3	37	c.1959G>C	CCDS7178.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.761256	0.49468	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292;ENST00000374768	T;T;T;T;T;T;T;T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68;1.68	5.74	3.89	0.44902	PDZ/DHR/GLGF (4);	0.139219	0.64402	D	0.000005	T	0.34774	0.0909	M	0.74881	2.28	0.51012	D	0.999902	B;P;B;P;P;P;P;B;B;P;P;B;P;P;B	0.46277	0.341;0.875;0.383;0.538;0.538;0.538;0.538;0.028;0.271;0.592;0.721;0.306;0.474;0.607;0.022	B;P;B;B;B;B;B;B;B;B;P;B;B;P;B	0.48166	0.223;0.569;0.379;0.286;0.379;0.286;0.286;0.052;0.169;0.409;0.533;0.162;0.304;0.521;0.049	T	0.07986	-1.0744	10	0.48119	T	0.1	.	8.3848	0.32494	0.0:0.6847:0.0:0.3153	.	596;596;640;640;640;653;653;653;596;640;653;653;640;653;370	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	N	640;596;653;653;653;596;640;596;640;653;653;370;91	ENSP00000443147:K640N;ENSP00000440857:K596N;ENSP00000363921:K653N;ENSP00000363920:K653N;ENSP00000340591:K653N;ENSP00000363926:K596N;ENSP00000311986:K640N;ENSP00000363922:K596N;ENSP00000363908:K640N;ENSP00000341844:K653N;ENSP00000363905:K653N;ENSP00000444429:K370N;ENSP00000363900:K91N	ENSP00000341844:K653N	K	-	3	2	PARD3	34688189	0.998000	0.40836	1.000000	0.80357	0.989000	0.77384	0.601000	0.24119	0.775000	0.33450	0.655000	0.94253	AAG		0.413	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047527.1		NM_019619		43	85	0	0	0	0.000781405	0	43	85		
HIF1AN	55662	broad.mit.edu	37	10	102296389	102296389	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr10:102296389G>A	ENST00000299163.6	+	2	499	c.399G>A	c.(397-399)caG>caA	p.Q133Q	HIF1AN_ENST00000528044.1_3'UTR	NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	133					cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		AGAAACTGCAGGATATACAGC	0.398																																						uc001krj.3		NaN																	0					0						c.(397-399)CAG>CAA		hypoxia-inducible factor 1, alpha subunit							81.0	84.0	83.0					10																	102296389		2203	4300	6503	SO:0001819	synonymous_variant	55662				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding	g.chr10:102296389G>A	AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"""Peptide-aspartate beta-dioxygenase"""	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.399G>A	10.37:g.102296389G>A							p.Q133Q	NM_017902	NP_060372	Q9NWT6	HIF1N_HUMAN		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)	2	474	+		Colorectal(252;0.234)	133			Interaction with HIF1A.|Interaction with VHL.		D3DR69|Q5W147|Q969Q7|Q9NPV5	Silent	SNP	ENST00000299163.6	37	c.399G>A	CCDS7498.1																																																																																				0.398	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049865.5		NM_017902		39	119	0	0	0	0.000374591	0	39	119		
PSTK	118672	broad.mit.edu	37	10	124740004	124740004	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr10:124740004C>T	ENST00000368887.3	+	1	449	c.9C>T	c.(7-9)acC>acT	p.T3T	PSTK_ENST00000405485.1_Silent_p.T3T	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	3					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		GCATGAAGACCGCCGAGAACA	0.701											OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001lgy.1		NaN																	0				liver(1)	1						c.(7-9)ACC>ACT		phosphoseryl-tRNA kinase							17.0	20.0	19.0					10																	124740004		2202	4289	6491	SO:0001819	synonymous_variant	118672						ATP binding|kinase activity	g.chr10:124740004C>T	AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"""chromosome 10 open reading frame 89"""	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.9C>T	10.37:g.124740004C>T			OREG0020597	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1536		p.T3T	NM_153336	NP_699167	Q8IV42	PSTK_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)	1	449	+		all_neural(114;0.169)|Glioma(114;0.222)	3					Q6ZSS9	Silent	SNP	ENST00000368887.3	37	c.9C>T	CCDS7633.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.824183	0.32237	.	.	ENSG00000179988	ENST00000406217	.	.	.	3.99	0.727	0.18254	.	.	.	.	.	T	0.29783	0.0744	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	T	0.24977	-1.0145	4	.	.	.	-0.0165	5.9253	0.19108	0.4123:0.4097:0.178:0.0	.	.	.	.	L	4	.	.	P	+	2	0	PSTK	124729994	0.000000	0.05858	0.012000	0.15200	0.477000	0.33069	-1.005000	0.03674	0.351000	0.24027	0.655000	0.94253	CCG		0.701	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1		NM_153336		10	13	0	0	0	0.000978159	0	10	13		
FAM175B	23172	broad.mit.edu	37	10	126523363	126523363	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr10:126523363C>T	ENST00000298492.5	+	9	1116	c.1071C>T	c.(1069-1071)gaC>gaT	p.D357D		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	357					cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)			NS(1)	1						GTGGGGCTGACCTTCCTCCTC	0.493																																						uc001lib.3		NaN																	0					0						c.(1069-1071)GAC>GAT		hypothetical protein LOC23172							83.0	79.0	80.0					10																	126523363		2203	4300	6503	SO:0001819	synonymous_variant	23172					BRISC complex	polyubiquitin binding	g.chr10:126523363C>T	D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"""Abraxas brother"""	611144	"""KIAA0157"""	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.1071C>T	10.37:g.126523363C>T							p.D357D	NM_032182	NP_115558	Q15018	F175B_HUMAN			9	1116	+			357					B4DKR2|Q96H11	Silent	SNP	ENST00000298492.5	37	c.1071C>T	CCDS31308.2																																																																																				0.493	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2		NM_032182		8	23	0	0	0	0.000157383	0	8	23		
FJX1	24147	broad.mit.edu	37	11	35640997	35640997	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:35640997C>T	ENST00000317811.4	+	1	1263	c.813C>T	c.(811-813)gcC>gcT	p.A271A		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	271					retina layer formation (GO:0010842)	extracellular space (GO:0005615)				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				TCCGGGATGCCGGGGGTGAGC	0.677																																					Melanoma(161;10 2587 27165 47356)	uc001mwh.2		NaN																	0					0						c.(811-813)GCC>GCT		four jointed box 1 precursor							21.0	23.0	22.0					11																	35640997		2002	4160	6162	SO:0001819	synonymous_variant	24147					extracellular space		g.chr11:35640997C>T	AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"""putative secreted ligand homologous to fjx1"""	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		ENST00000317811.4:c.813C>T	11.37:g.35640997C>T							p.A271A	NM_014344	NP_055159	Q86VR8	FJX1_HUMAN			1	1263	+	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)	271					B2RCA9|Q9UGK6	Silent	SNP	ENST00000317811.4	37	c.813C>T	CCDS44570.1																																																																																				0.677	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389078.1		NM_014344		4	33	0	0	0	0.00024832	0	4	33		
OR5R1	219479	broad.mit.edu	37	11	56185064	56185064	+	Silent	SNP	G	G	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:56185064G>T	ENST00000312253.1	-	1	644	c.645C>A	c.(643-645)ctC>ctA	p.L215L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	215						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TGTAGGAGGTGAGGACAATGG	0.468																																						uc010rji.1		NaN																	0				ovary(2)	2						c.(643-645)CTC>CTA		olfactory receptor, family 5, subfamily R,							117.0	100.0	105.0					11																	56185064		2201	4296	6497	SO:0001819	synonymous_variant	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56185064G>T	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.645C>A	11.37:g.56185064G>T							p.L215L	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN			1	645	-	Esophageal squamous(21;0.00448)		215			Helical; Name=5; (Potential).			Silent	SNP	ENST00000312253.1	37	c.645C>A	CCDS31530.1																																																																																				0.468	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1		NM_001004744		22	40	1	0	2.70639e-06	0.000295444	2.5161e-05	22	40		
TNKS1BP1	85456	broad.mit.edu	37	11	57077076	57077076	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:57077076C>G	ENST00000532437.1	-	5	3420	c.3109G>C	c.(3109-3111)Gat>Cat	p.D1037H	TNKS1BP1_ENST00000530920.1_5'Flank|TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.D1037H			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1037	Acidic.|Gly-rich.				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)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGTGCCCCATCCGGCACGTGG	0.637																																						uc001njr.2		NaN																	0				skin(1)	1						c.(3109-3111)GAT>CAT		tankyrase 1-binding protein 1							78.0	76.0	77.0					11																	57077076		2201	4296	6497	SO:0001583	missense	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57077076C>G	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.3109G>C	11.37:g.57077076C>G	ENSP00000437271:p.Asp1037His					TNKS1BP1_uc001njs.2_Missense_Mutation_p.D1037H|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.D488H	p.D1037H	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN			5	3421	-		all_epithelial(135;0.21)	1037			Gly-rich.|Acidic.		A7E2F8|Q6PJ35|Q6ZV74	Missense_Mutation	SNP	ENST00000532437.1	37	c.3109G>C	CCDS7951.1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.482945	0.26598	.	.	ENSG00000149115	ENST00000358252;ENST00000532437	T;T	0.38240	1.15;1.15	5.05	4.13	0.48395	.	0.264049	0.26820	N	0.022332	T	0.41581	0.1165	M	0.71581	2.175	0.09310	N	1	P	0.45126	0.851	P	0.47402	0.546	T	0.43988	-0.9357	10	0.87932	D	0	-11.9932	6.3586	0.21414	0.0:0.7141:0.1879:0.098	.	1037	Q9C0C2	TB182_HUMAN	H	1037	ENSP00000350990:D1037H;ENSP00000437271:D1037H	ENSP00000350990:D1037H	D	-	1	0	TNKS1BP1	56833652	0.000000	0.05858	0.156000	0.22583	0.072000	0.16883	0.058000	0.14301	2.356000	0.79943	0.462000	0.41574	GAT		0.637	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1		NM_033396		45	106	0	0	0	0.000781405	0	45	106		
SPTBN2	6712	broad.mit.edu	37	11	66468734	66468734	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:66468734G>T	ENST00000533211.1	-	17	3167	c.2836C>A	c.(2836-2838)Ctg>Atg	p.L946M	SPTBN2_ENST00000529997.1_Missense_Mutation_p.L946M|SPTBN2_ENST00000309996.2_Missense_Mutation_p.L946M			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	946					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCGTCTGCCAGACGCCGAAAC	0.582																																						uc001ojd.2		NaN																	0				large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(2836-2838)CTG>ATG		spectrin, beta, non-erythrocytic 2							30.0	30.0	30.0					11																	66468734		2198	4293	6491	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66468734G>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.2836C>A	11.37:g.66468734G>T	ENSP00000432568:p.Leu946Met						p.L946M	NM_006946	NP_008877	O15020	SPTN2_HUMAN			16	2908	-			946			Spectrin 6.		O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.2836C>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.907033	0.33628	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.56444	0.46;0.46;0.46	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000003	T	0.59891	0.2227	L	0.46157	1.445	0.58432	D	0.999998	D	0.54601	0.967	P	0.62014	0.897	T	0.56165	-0.8024	10	0.34782	T	0.22	.	10.6999	0.45920	0.0927:0.0:0.9073:0.0	.	946	O15020	SPTN2_HUMAN	M	946	ENSP00000432568:L946M;ENSP00000311489:L946M;ENSP00000433593:L946M	ENSP00000311489:L946M	L	-	1	2	SPTBN2	66225310	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	6.354000	0.73036	2.424000	0.82194	0.491000	0.48974	CTG		0.582	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2		NM_006946		19	43	1	0	5.35267e-07	0.000958276	5.09574e-06	19	43		
MOGAT2	80168	broad.mit.edu	37	11	75438555	75438555	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:75438555G>A	ENST00000198801.5	+	3	416	c.346G>A	c.(346-348)Gga>Aga	p.G116R	MOGAT2_ENST00000526712.1_Missense_Mutation_p.G34R	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	116					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CCTGGCAGTCGGAGCCTTTGC	0.617																																						uc010rru.1		NaN																	0				ovary(2)	2						c.(346-348)GGA>AGA		monoacylglycerol O-acyltransferase 2							87.0	81.0	83.0					11																	75438555		2200	4293	6493	SO:0001583	missense	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75438555G>A	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.346G>A	11.37:g.75438555G>A	ENSP00000198801:p.Gly116Arg					MOGAT2_uc001oww.1_Missense_Mutation_p.G116R|MOGAT2_uc010rrv.1_Missense_Mutation_p.G34R	p.G116R	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN			3	346	+	Ovarian(111;0.103)		116			Helical; (Potential).		A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	c.346G>A	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453400	0.63290	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.19669	2.13;2.13	5.63	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.61776	0.2374	H	0.98111	4.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.971	T	0.76465	-0.2949	10	0.87932	D	0	-13.0687	13.2508	0.60050	0.0771:0.0:0.9229:0.0	.	116;116	Q3SYC2;Q3SYC2-3	MOGT2_HUMAN;.	R	116;34	ENSP00000198801:G116R;ENSP00000436283:G34R	ENSP00000198801:G116R	G	+	1	0	MOGAT2	75116203	1.000000	0.71417	0.754000	0.31244	0.150000	0.21749	7.553000	0.82203	1.381000	0.46364	0.655000	0.94253	GGA		0.617	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1		NM_025098		16	176	0	0	0	0.000566183	0	16	176		
INTS4	92105	broad.mit.edu	37	11	77605369	77605369	+	Missense_Mutation	SNP	T	T	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:77605369T>G	ENST00000534064.1	-	19	2289	c.2255A>C	c.(2254-2256)gAa>gCa	p.E752A	AAMDC_ENST00000527134.1_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.E127A|AAMDC_ENST00000304716.8_Intron|AAMDC_ENST00000532481.1_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	752					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TAAAAATTTTTCACACATCCC	0.353																																						uc001oys.2		NaN																	0				ovary(2)	2						c.(2254-2256)GAA>GCA		integrator complex subunit 4							30.0	32.0	31.0					11																	77605369		2198	4290	6488	SO:0001583	missense	92105				snRNA processing	integrator complex	protein binding	g.chr11:77605369T>G	BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.2255A>C	11.37:g.77605369T>G	ENSP00000434466:p.Glu752Ala					C11orf67_uc001oyp.2_Intron|C11orf67_uc001oyr.1_Intron|INTS4_uc001oyt.2_RNA	p.E752A	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)		19	2283	-	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		752					Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	c.2255A>C	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.604090	0.87157	.	.	ENSG00000149262	ENST00000534064;ENST00000535943	.	.	.	5.05	5.05	0.67936	.	0.047374	0.85682	D	0.000000	T	0.64000	0.2559	M	0.62723	1.935	0.80722	D	1	D	0.55172	0.97	P	0.51833	0.681	T	0.61987	-0.6949	9	0.26408	T	0.33	-13.0392	15.2414	0.73474	0.0:0.0:0.0:1.0	.	752	Q96HW7	INT4_HUMAN	A	752;127	.	ENSP00000434466:E752A	E	-	2	0	INTS4	77283017	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.015000	0.76387	2.247000	0.74100	0.477000	0.44152	GAA		0.353	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1		NM_033547		19	25	0	0	0	0.000958276	0	19	25		
C11orf53	341032	broad.mit.edu	37	11	111156561	111156561	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr11:111156561C>T	ENST00000280325.4	+	4	640	c.493C>T	c.(493-495)Cat>Tat	p.H165Y		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	165										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		ATACTCGCTGCATGCTCTGGA	0.617																																						uc001plc.2		NaN																	0					0						c.(493-495)CAT>TAT		hypothetical protein LOC341032							103.0	98.0	100.0					11																	111156561		2201	4297	6498	SO:0001583	missense	341032							g.chr11:111156561C>T	BC039669	CCDS31674.1	11q23.1	2012-05-31			ENSG00000150750	ENSG00000150750			30527	protein-coding gene	gene with protein product						12477932	Standard	NM_198498		Approved	MGC50104	uc001plc.3	Q8IXP5	OTTHUMG00000166656	ENST00000280325.4:c.493C>T	11.37:g.111156561C>T	ENSP00000280325:p.His165Tyr						p.H165Y	NM_198498	NP_940900	Q8IXP5	CK053_HUMAN		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)	4	640	+		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)	165						Missense_Mutation	SNP	ENST00000280325.4	37	c.493C>T	CCDS31674.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164942	0.78339	.	.	ENSG00000150750	ENST00000280325	.	.	.	4.95	4.95	0.65309	.	0.053869	0.64402	D	0.000001	T	0.77519	0.4142	M	0.72894	2.215	0.48236	D	0.999616	D	0.89917	1.0	D	0.85130	0.997	T	0.77579	-0.2535	9	0.41790	T	0.15	-13.7243	15.6878	0.77424	0.0:1.0:0.0:0.0	.	165	Q8IXP5	CK053_HUMAN	Y	165	.	ENSP00000280325:H165Y	H	+	1	0	C11orf53	110661771	1.000000	0.71417	0.038000	0.18304	0.909000	0.53808	5.751000	0.68720	2.295000	0.77249	0.561000	0.74099	CAT		0.617	C11orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390989.1		NM_198498		33	66	0	0	0	0.000409698	0	33	66		
GYS2	2998	broad.mit.edu	37	12	21757466	21757466	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr12:21757466C>G	ENST00000261195.2	-	1	315	c.61G>C	c.(61-63)Gaa>Caa	p.E21Q		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	21					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GGAAGTTCTTCGACTTCCCAC	0.493																																					Colon(149;9 1820 3690 10544 50424)	uc001rfb.2		NaN																	0				lung(1)|skin(1)	2						c.(61-63)GAA>CAA		glycogen synthase 2							99.0	97.0	98.0					12																	21757466		2203	4299	6502	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21757466C>G		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.61G>C	12.37:g.21757466C>G	ENSP00000261195:p.Glu21Gln						p.E21Q	NM_021957	NP_068776	P54840	GYS2_HUMAN			1	316	-			21					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.61G>C	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	8.677	0.904300	0.17760	.	.	ENSG00000111713	ENST00000261195	T	0.65178	-0.14	5.28	2.35	0.29111	.	0.443746	0.25854	N	0.027874	T	0.38374	0.1038	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.16722	0.016	T	0.26677	-1.0096	10	0.36615	T	0.2	-6.0401	9.334	0.38038	0.0:0.6286:0.2896:0.0818	.	21	P54840	GYS2_HUMAN	Q	21	ENSP00000261195:E21Q	ENSP00000261195:E21Q	E	-	1	0	GYS2	21648733	0.993000	0.37304	0.006000	0.13384	0.600000	0.36913	3.118000	0.50414	0.815000	0.34398	-0.122000	0.15005	GAA		0.493	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1		NM_021957		29	54	0	0	0	0.000184323	0	29	54		
ADAMTS20	80070	broad.mit.edu	37	12	43771260	43771260	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr12:43771260G>C	ENST00000389420.3	-	32	4902	c.4903C>G	c.(4903-4905)Caa>Gaa	p.Q1635E		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1635	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GGGCATTCTTGATAAACTATA	0.428																																						uc010skx.1		NaN																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(4903-4905)CAA>GAA		a disintegrin-like and metalloprotease with							129.0	117.0	121.0					12																	43771260		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43771260G>C	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4903C>G	12.37:g.43771260G>C	ENSP00000374071:p.Gln1635Glu						p.Q1635E	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	32	4903	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1635			TSP type-1 14.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4903C>G	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	0.205	-1.041039	0.02013	.	.	ENSG00000173157	ENST00000389420	T	0.57436	0.4	5.07	1.85	0.25348	.	1.058410	0.07488	N	0.905131	T	0.34337	0.0894	N	0.22421	0.69	0.21325	N	0.999726	B	0.12630	0.006	B	0.09377	0.004	T	0.16778	-1.0391	10	0.06625	T	0.88	.	9.3147	0.37926	0.0:0.2636:0.4859:0.2505	.	1635	P59510	ATS20_HUMAN	E	1635	ENSP00000374071:Q1635E	ENSP00000374071:Q1635E	Q	-	1	0	ADAMTS20	42057527	0.457000	0.25752	0.315000	0.25238	0.051000	0.14879	1.082000	0.30803	0.732000	0.32470	0.650000	0.86243	CAA		0.428	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1		NM_025003		12	23	0	0	0	0.000978159	0	12	23		
ADAMTS20	80070	broad.mit.edu	37	12	43886428	43886428	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr12:43886428C>A	ENST00000389420.3	-	6	955	c.956G>T	c.(955-957)gGa>gTa	p.G319V	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G319V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	319	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AATGACTGGTCCTTCCTATGC	0.363																																						uc010skx.1		NaN																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(955-957)GGA>GTA		a disintegrin-like and metalloprotease with							138.0	113.0	121.0					12																	43886428		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43886428C>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.956G>T	12.37:g.43886428C>A	ENSP00000374071:p.Gly319Val						p.G319V	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	6	956	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	319			Peptidase M12B.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.956G>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317789	0.60524	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	D;D	0.87256	-2.23;-2.23	4.79	4.79	0.61399	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.47852	D	0.000202	D	0.95133	0.8423	M	0.92219	3.285	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96128	0.9090	10	0.87932	D	0	.	18.7307	0.91734	0.0:1.0:0.0:0.0	.	319	P59510	ATS20_HUMAN	V	319	ENSP00000374071:G319V;ENSP00000448341:G319V	ENSP00000374068:G319V	G	-	2	0	ADAMTS20	42172695	1.000000	0.71417	1.000000	0.80357	0.275000	0.26752	7.231000	0.78106	2.587000	0.87381	0.557000	0.71058	GGA		0.363	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1		NM_025003		9	42	1	0	4.68919e-08	0.000673444	4.50011e-07	9	42		
PPFIA2	8499	broad.mit.edu	37	12	81688723	81688723	+	Missense_Mutation	SNP	A	A	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr12:81688723A>G	ENST00000549396.1	-	24	2976	c.2816T>C	c.(2815-2817)aTc>aCc	p.I939T	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.I786T|PPFIA2_ENST00000552948.1_Missense_Mutation_p.I939T|PPFIA2_ENST00000541570.2_Missense_Mutation_p.I506T|PPFIA2_ENST00000550584.2_Missense_Mutation_p.I939T|PPFIA2_ENST00000443686.3_Missense_Mutation_p.I840T|PPFIA2_ENST00000548586.1_Missense_Mutation_p.I939T|PPFIA2_ENST00000407050.4_Missense_Mutation_p.I865T|PPFIA2_ENST00000541017.1_Missense_Mutation_p.I156T|PPFIA2_ENST00000549325.1_Missense_Mutation_p.I924T|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000333447.7_Missense_Mutation_p.I924T	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	939	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				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						TTCTCTCTGGATCTCAGTGTC	0.488																																						uc001szo.1		NaN																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(2815-2817)ATC>ACC		PTPRF interacting protein alpha 2							113.0	111.0	112.0					12																	81688723		2095	4253	6348	SO:0001583	missense	8499							g.chr12:81688723A>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.2816T>C	12.37:g.81688723A>G	ENSP00000450337:p.Ile939Thr					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.I939T	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			24	2977	-			865					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2816T>C	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.1|27.1	4.803371|4.803371	0.90623|0.90623	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000550018	T;T;T;T;T;T;T;T;T|.	0.19394|.	2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15;2.15|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75019|0.75019	0.3793|0.3793	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	D|.	0.78314|.	0.991|.	T|T	0.75539|0.75539	-0.3282|-0.3282	10|5	0.87932|.	D|.	0|.	-12.7774|-12.7774	15.8173|15.8173	0.78612|0.78612	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	939|.	O75334|.	LIPA2_HUMAN|.	T|P	939;924;506;156;865;950;924;939;840;939|73	ENSP00000450337:I939T;ENSP00000450298:I924T;ENSP00000438337:I506T;ENSP00000445532:I156T;ENSP00000385093:I865T;ENSP00000327416:I924T;ENSP00000449338:I939T;ENSP00000388373:I840T;ENSP00000447868:I939T|.	ENSP00000327416:I924T|.	I|S	-|-	2|1	0|0	PPFIA2|PPFIA2	80212854|80212854	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	9.339000|9.339000	0.96797|0.96797	2.151000|2.151000	0.67156|0.67156	0.533000|0.533000	0.62120|0.62120	ATC|TCC		0.488	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1				4	22	0	0	0	0.00024832	0	4	22		
PLEKHG7	440107	broad.mit.edu	37	12	93149620	93149620	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr12:93149620G>A	ENST00000344636.3	+	7	694	c.510G>A	c.(508-510)gtG>gtA	p.V170V		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	170	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AAGGAAAAGTGAAGTGGCTGG	0.383																																						uc001tcj.2		NaN																	0				ovary(1)	1						c.(508-510)GTG>GTA		pleckstrin homology domain containing, family G							83.0	90.0	87.0					12																	93149620		2203	4300	6503	SO:0001819	synonymous_variant	440107				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr12:93149620G>A	AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"""Pleckstrin homology (PH) domain containing"""	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.510G>A	12.37:g.93149620G>A							p.V170V	NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN			7	740	+			170			DH.		B2RNR7	Silent	SNP	ENST00000344636.3	37	c.510G>A	CCDS31873.1																																																																																				0.383	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407288.1		NM_001004330		27	65	0	0	0	0.00106085	0	27	65		
CCDC63	160762	broad.mit.edu	37	12	111319049	111319049	+	Missense_Mutation	SNP	G	G	A	rs536653873		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr12:111319049G>A	ENST00000308208.5	+	7	1044	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	CCDC63_ENST00000552694.1_Missense_Mutation_p.V189I|CCDC63_ENST00000550317.1_3'UTR|CCDC63_ENST00000545036.1_Missense_Mutation_p.V228I	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	268										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CTTCCTGCTCGTCAAGCTGAA	0.532													G|||	1	0.000199681	0.0	0.0014	5008	,	,		21172	0.0		0.0	False		,,,				2504	0.0					uc001trv.1		NaN																	0				skin(6)|ovary(1)|pancreas(1)	8						c.(802-804)GTC>ATC		coiled-coil domain containing 63							79.0	67.0	71.0					12																	111319049		2203	4300	6503	SO:0001583	missense	160762							g.chr12:111319049G>A	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.802G>A	12.37:g.111319049G>A	ENSP00000312399:p.Val268Ile					CCDC63_uc009zvt.1_3'UTR|CCDC63_uc010sye.1_Missense_Mutation_p.V228I|CCDC63_uc001trw.1_Missense_Mutation_p.V183I	p.V268I	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN			7	997	+			268			Potential.		B4DY03|Q0P603|Q6P2E1	Missense_Mutation	SNP	ENST00000308208.5	37	c.802G>A	CCDS9151.1	.	.	.	.	.	.	.	.	.	.	G	0.072	-1.200948	0.01581	.	.	ENSG00000173093	ENST00000545036;ENST00000308208;ENST00000552694	T;T;T	0.21932	1.98;1.98;1.98	4.65	-8.41	0.00961	.	1.716060	0.03184	N	0.172453	T	0.09379	0.0231	N	0.12569	0.235	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.18903	-1.0322	10	0.22706	T	0.39	.	6.7001	0.23221	0.1689:0.0:0.4731:0.358	.	268	Q8NA47	CCD63_HUMAN	I	228;268;189	ENSP00000445881:V228I;ENSP00000312399:V268I;ENSP00000450217:V189I	ENSP00000312399:V268I	V	+	1	0	CCDC63	109803432	0.000000	0.05858	0.312000	0.25196	0.155000	0.21991	-1.354000	0.02614	-1.562000	0.01682	-1.365000	0.01206	GTC		0.532	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2		NM_152591		12	28	0	0	0	0.000978159	0	12	28		
SNX6	58533	broad.mit.edu	37	14	35036931	35036931	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr14:35036931A>T	ENST00000362031.4	-	13	1194	c.1164T>A	c.(1162-1164)aaT>aaA	p.N388K	SNX6_ENST00000396534.3_Missense_Mutation_p.N260K|SNX6_ENST00000396526.3_Missense_Mutation_p.N260K|SNX6_ENST00000355110.5_Missense_Mutation_p.N264K	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	376					intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		GTTCCACTAAATTTTTTCTGA	0.269																																						uc001wsf.1		NaN																	0					0						c.(1162-1164)AAT>AAA		sorting nexin 6 isoform b							80.0	78.0	79.0					14																	35036931		2202	4297	6499	SO:0001583	missense	58533				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity	g.chr14:35036931A>T	AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"""Sorting nexins"""	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.1164T>A	14.37:g.35036931A>T	ENSP00000355217:p.Asn388Lys					SNX6_uc001wse.1_Missense_Mutation_p.N260K|SNX6_uc010tpm.1_Missense_Mutation_p.N264K	p.N388K	NM_152233	NP_689419	Q9UNH7	SNX6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)	13	1172	-	Breast(36;0.0473)|Hepatocellular(127;0.158)		376					C0H5W9|Q9Y449	Missense_Mutation	SNP	ENST00000362031.4	37	c.1164T>A	CCDS41942.1	.	.	.	.	.	.	.	.	.	.	A	18.81	3.702091	0.68501	.	.	ENSG00000129515	ENST00000396526;ENST00000396534;ENST00000362031;ENST00000355110	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.0	1.24	0.21308	Vps5 C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.59046	0.2165	M	0.86343	2.81	0.80722	D	1	B;B	0.24132	0.051;0.098	B;B	0.31869	0.044;0.137	T	0.55742	-0.8093	10	0.66056	D	0.02	-26.4582	4.6702	0.12685	0.6572:0.0:0.2135:0.1293	.	264;376	B4DJS7;Q9UNH7	.;SNX6_HUMAN	K	260;260;388;264	ENSP00000379779:N260K;ENSP00000379785:N260K;ENSP00000355217:N388K;ENSP00000347230:N264K	ENSP00000347230:N264K	N	-	3	2	SNX6	34106682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.068000	0.57534	0.105000	0.17753	0.455000	0.32223	AAT		0.269	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276642.3				21	46	0	0	0	0.000295444	0	21	46		
MTHFD1	4522	broad.mit.edu	37	14	64921557	64921557	+	Silent	SNP	C	C	T	rs565206627		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr14:64921557C>T	ENST00000545908.1	+	26	3079	c.2850C>T	c.(2848-2850)agC>agT	p.S950S	MTHFD1_ENST00000216605.8_Silent_p.S894S|ZBTB25_ENST00000555220.1_Intron|MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_Intron			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	894					folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	TCCGCGCCAGCGTTGGGGCTG	0.532																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)	uc001xhb.2		NaN																	0				ovary(2)	2						c.(2680-2682)AGC>AGT		methylenetetrahydrofolate dehydrogenase 1	NADH(DB00157)|Tetrahydrofolic acid(DB00116)						150.0	136.0	141.0					14																	64921557		2203	4300	6503	SO:0001819	synonymous_variant	4522				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|methylenetetrahydrofolate dehydrogenase|protein binding	g.chr14:64921557C>T	J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2850C>T	14.37:g.64921557C>T						MTHFD1_uc010aqf.2_Silent_p.S950S|ZBTB25_uc001xhc.2_Intron	p.S894S	NM_005956	NP_005947	P11586	C1TC_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	26	3069	+			894			Formyltetrahydrofolate synthetase.		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Silent	SNP	ENST00000545908.1	37	c.2682C>T																																																																																					0.532	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1				37	93	0	0	0	0.000319135	0	37	93		
KIF26A	26153	broad.mit.edu	37	14	104641739	104641739	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr14:104641739G>A	ENST00000423312.2	+	12	2614	c.2614G>A	c.(2614-2616)Gcc>Acc	p.A872T	KIF26A_ENST00000315264.7_Missense_Mutation_p.A733T	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	872					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GGCCAGCCCCGCCCGAGGGGG	0.711																																						uc001yos.3		NaN																	0				pancreas(1)	1						c.(2614-2616)GCC>ACC		kinesin family member 26A							9.0	13.0	12.0					14																	104641739		1937	4098	6035	SO:0001583	missense	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104641739G>A	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2614G>A	14.37:g.104641739G>A	ENSP00000388241:p.Ala872Thr						p.A872T	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	12	2614	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	872					Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	ENST00000423312.2	37	c.2614G>A	CCDS45171.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483302	0.26598	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.78126	-1.15;-1.15	3.9	1.8	0.24995	.	.	.	.	.	T	0.66489	0.2794	L	0.46157	1.445	0.09310	N	1	B	0.25955	0.138	B	0.14023	0.01	T	0.48990	-0.8985	9	0.15952	T	0.53	.	9.8438	0.41015	0.0:0.0:0.4547:0.5452	.	872	Q9ULI4	KI26A_HUMAN	T	872;733	ENSP00000388241:A872T;ENSP00000325452:A733T	ENSP00000325452:A733T	A	+	1	0	KIF26A	103711492	0.190000	0.23276	0.020000	0.16555	0.253000	0.25986	0.439000	0.21575	0.726000	0.32339	0.462000	0.41574	GCC		0.711	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1				10	16	0	0	0	0.000978159	0	10	16		
LRRC49	54839	broad.mit.edu	37	15	71302329	71302329	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr15:71302329G>C	ENST00000260382.5	+	13	1851	c.1591G>C	c.(1591-1593)Gag>Cag	p.E531Q	LRRC49_ENST00000560158.2_Missense_Mutation_p.E219Q|LRRC49_ENST00000560691.1_Missense_Mutation_p.E237Q|LRRC49_ENST00000560369.1_Missense_Mutation_p.E536Q|LRRC49_ENST00000443425.2_Missense_Mutation_p.E487Q|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.E521Q	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	531						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAATGGAACAGAGGTAAGCTA	0.299																																						uc002asw.2		NaN																	0				ovary(1)	1						c.(1591-1593)GAG>CAG		leucine rich repeat containing 49							53.0	55.0	54.0					15																	71302329		2199	4297	6496	SO:0001583	missense	54839					cytoplasm|microtubule		g.chr15:71302329G>C		CCDS32282.1, CCDS55971.1, CCDS58376.1, CCDS61694.1	15q23	2005-08-09				ENSG00000137821			25965	protein-coding gene	gene with protein product						12477932	Standard	NM_001199017		Approved	FLJ20156	uc010ukf.2	Q8IUZ0		ENST00000260382.5:c.1591G>C	15.37:g.71302329G>C	ENSP00000260382:p.Glu531Gln					LRRC49_uc002asu.2_Missense_Mutation_p.E521Q|LRRC49_uc002asx.2_Missense_Mutation_p.E487Q|LRRC49_uc010ukf.1_Missense_Mutation_p.E536Q|LRRC49_uc002asy.2_Missense_Mutation_p.E237Q|LRRC49_uc002asz.2_Missense_Mutation_p.E503Q	p.E531Q	NM_017691	NP_060161	Q8IUZ0	LRC49_HUMAN			13	1838	+			531					B3KVX1|B7Z366|F5H1J4|G5E9T5|H0YLN4|Q9NXM6	Missense_Mutation	SNP	ENST00000260382.5	37	c.1591G>C	CCDS32282.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634857	0.87760	.	.	ENSG00000137821	ENST00000544974;ENST00000260382;ENST00000443425;ENST00000436542	T;T;T	0.39592	1.08;1.09;1.07	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.65091	0.2658	M	0.74881	2.28	0.58432	D	0.999992	D;D;D;D;D	0.76494	0.986;0.985;0.985;0.975;0.999	P;P;P;P;D	0.71184	0.642;0.687;0.733;0.545;0.972	T	0.66460	-0.5918	10	0.56958	D	0.05	-23.585	17.1509	0.86778	0.0:0.0:1.0:0.0	.	536;503;487;531;521	B7Z366;G5E9Q1;G5E9T5;Q8IUZ0;F5H1J4	.;.;.;LRC49_HUMAN;.	Q	521;531;487;503	ENSP00000439600:E521Q;ENSP00000260382:E531Q;ENSP00000414065:E487Q	ENSP00000260382:E531Q	E	+	1	0	LRRC49	69089383	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.494000	0.66905	2.643000	0.89663	0.591000	0.81541	GAG		0.299	LRRC49-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417209.3		NM_017691		19	39	0	0	0	0.000132079	0	19	39		
MAN2C1	4123	broad.mit.edu	37	15	75651976	75651976	+	Missense_Mutation	SNP	C	C	A	rs147452674		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr15:75651976C>A	ENST00000267978.5	-	16	1979	c.1933G>T	c.(1933-1935)Ggg>Tgg	p.G645W	MAN2C1_ENST00000569482.1_Missense_Mutation_p.G645W|MAN2C1_ENST00000565683.1_Missense_Mutation_p.G645W|MAN2C1_ENST00000563622.1_Missense_Mutation_p.G546W	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	645					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CTGTGGGCCCCGCCCGGTTTG	0.647																																						uc002baf.2		NaN																	0					0						c.(1933-1935)GGG>TGG		mannosidase, alpha, class 2C, member 1							33.0	33.0	33.0					15																	75651976		2197	4294	6491	SO:0001583	missense	4123				mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	g.chr15:75651976C>A	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.1933G>T	15.37:g.75651976C>A	ENSP00000267978:p.Gly645Trp					MAN2C1_uc002bag.2_Missense_Mutation_p.G645W|MAN2C1_uc002bah.2_Missense_Mutation_p.G645W|MAN2C1_uc010bkk.2_Missense_Mutation_p.G546W|MAN2C1_uc010umi.1_Missense_Mutation_p.G427W	p.G645W	NM_006715	NP_006706	Q9NTJ4	MA2C1_HUMAN			16	1950	-			645					H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	c.1933G>T	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	13.38	2.218951	0.39201	.	.	ENSG00000140400	ENST00000267978	T	0.79247	-1.25	5.05	4.13	0.48395	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.304667	0.34700	N	0.003747	D	0.88373	0.6419	M	0.88979	2.995	0.45415	D	0.998399	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.81914	0.995;0.989;0.964	D	0.89246	0.3587	10	0.87932	D	0	-7.7571	10.552	0.45095	0.0:0.9083:0.0:0.0917	.	427;645;645	B4DVP6;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	W	645	ENSP00000267978:G645W	ENSP00000267978:G645W	G	-	1	0	MAN2C1	73439029	0.499000	0.26083	0.516000	0.27786	0.169000	0.22640	3.304000	0.51866	1.131000	0.42111	0.455000	0.32223	GGG		0.647	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1				16	36	1	0	2.94398e-08	0.000958276	2.84824e-07	16	36		
MYLK3	91807	broad.mit.edu	37	16	46766260	46766260	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr16:46766260C>A	ENST00000394809.4	-	4	1437	c.1322G>T	c.(1321-1323)gGg>gTg	p.G441V	MYLK3_ENST00000536476.1_Missense_Mutation_p.G100V	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	441					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCCCAGGGCCCCAACCTCGTG	0.662																																						uc002eei.3		NaN																	0				stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	7						c.(1321-1323)GGG>GTG		myosin light chain kinase 3							64.0	72.0	69.0					16																	46766260		2203	4300	6503	SO:0001583	missense	91807				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	g.chr16:46766260C>A	AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1322G>T	16.37:g.46766260C>A	ENSP00000378288:p.Gly441Val					MYLK3_uc010vge.1_Missense_Mutation_p.G100V|MYLK3_uc002eej.1_Missense_Mutation_p.G100V	p.G441V	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN			4	1438	-		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	441					B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	c.1322G>T	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	11.88	1.769889	0.31320	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.69561	-0.41;-0.36	5.38	1.29	0.21616	.	0.436372	0.17020	N	0.190168	T	0.56804	0.2010	M	0.63428	1.95	0.19575	N	0.999969	P;B	0.45902	0.868;0.264	B;B	0.39706	0.307;0.03	T	0.46652	-0.9176	10	0.26408	T	0.33	.	7.3457	0.26662	0.0:0.6511:0.0:0.3489	.	441;441	B5BUL9;Q32MK0	.;MYLK3_HUMAN	V	441;100	ENSP00000378288:G441V;ENSP00000439297:G100V	ENSP00000378288:G441V	G	-	2	0	MYLK3	45323761	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.190000	0.17057	0.013000	0.14918	-0.258000	0.10820	GGG		0.662	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2		NM_182493		38	102	1	0	1.67305e-13	0.000228196	1.68723e-12	38	102		
BANP	54971	broad.mit.edu	37	16	88098939	88098939	+	Splice_Site	SNP	G	G	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr16:88098939G>T	ENST00000393207.1	+	12	1565		c.e12+1		BANP_ENST00000355022.4_Intron|BANP_ENST00000393208.2_Splice_Site|BANP_ENST00000355163.5_Splice_Site|BANP_ENST00000479780.2_Intron|BANP_ENST00000286122.7_Splice_Site|BANP_ENST00000538234.1_Intron	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein						cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		cagtggccaggtgagtccttt	0.582																																						uc002fkr.2		NaN																	0					0						c.e12+1		BTG3 associated nuclear protein isoform b							35.0	40.0	38.0					16																	88098939		1903	4125	6028	SO:0001630	splice_region_variant	54971				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr16:88098939G>T	AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.1344+1G>T	16.37:g.88098939G>T						BANP_uc002fkp.2_Splice_Site_p.Q420_splice|BANP_uc002fkq.2_Intron|BANP_uc010vow.1_Intron|BANP_uc002fks.3_Intron	p.Q447_splice	NM_079837	NP_524576	Q8N9N5	BANP_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.00551)	12	1565	+								A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	Splice_Site	SNP	ENST00000393207.1	37	c.1341_splice	CCDS54054.1																																																																																				0.582	BANP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269166.1		NM_017869	Intron	15	35	1	0	2.23348e-06	0.000422831	2.09279e-05	15	35		
SNAI3	333929	broad.mit.edu	37	16	88745035	88745035	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr16:88745035C>T	ENST00000332281.5	-	3	786	c.700G>A	c.(700-702)Gag>Aag	p.E234K	SNAI3-AS1_ENST00000563261.1_RNA	NM_178310.3	NP_840101.1	Q3KNW1	SNAI3_HUMAN	snail family zinc finger 3	234					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	copper ion binding (GO:0005507)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(80;0.048)		TAGGGCTTCTCCCCTGTGGGA	0.612																																					Colon(27;366 710 19748 23199 27567)	uc002flj.2		NaN																	0				ovary(1)	1						c.(700-702)GAG>AAG		snail homolog 3							43.0	38.0	39.0					16																	88745035		2197	4298	6495	SO:0001583	missense	333929				oxidation-reduction process		copper ion binding|DNA binding|zinc ion binding	g.chr16:88745035C>T	BC041461	CCDS32505.1	16q24.3	2013-05-23	2013-05-23			ENSG00000185669		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	18411	protein-coding gene	gene with protein product		612741	"""zinc finger protein 293"", ""snail homolog 3 (Drosophila)"""	ZNF293		12579345	Standard	NM_178310		Approved	SMUC, Zfp293	uc002flj.3	Q3KNW1		ENST00000332281.5:c.700G>A	16.37:g.88745035C>T	ENSP00000327968:p.Glu234Lys					MGC23284_uc002fli.3_Intron	p.E234K	NM_178310	NP_840101	Q3KNW1	SNAI3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.048)	3	768	-			234					Q86SU5	Missense_Mutation	SNP	ENST00000332281.5	37	c.700G>A	CCDS32505.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890055	0.91889	.	.	ENSG00000185669	ENST00000332281	T	0.24350	1.86	5.09	5.09	0.68999	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.49201	0.1543	L	0.58669	1.825	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49725	-0.8909	10	0.87932	D	0	-33.5496	17.6108	0.88053	0.0:1.0:0.0:0.0	.	234	Q3KNW1	SNAI3_HUMAN	K	234	ENSP00000327968:E234K	ENSP00000327968:E234K	E	-	1	0	SNAI3	87272536	1.000000	0.71417	0.999000	0.59377	0.501000	0.33797	7.447000	0.80620	2.521000	0.84997	0.561000	0.74099	GAG		0.612	SNAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422582.1				15	23	0	0	0	0.000219431	0	15	23		
GALNS	2588	broad.mit.edu	37	16	88893122	88893122	+	Missense_Mutation	SNP	C	C	T	rs150734270	byFrequency	TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr16:88893122C>T	ENST00000268695.5	-	10	1215	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q	GALNS_ENST00000542788.1_Missense_Mutation_p.R301Q|AC092384.1_ENST00000593752.1_5'Flank	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	376	Catalytic domain.		R -> Q (in MPS4A; severe form; dbSNP:rs150734270). {ECO:0000269|PubMed:9521421}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		GTCCATCAGCCGGCCCTGCAG	0.662													C|||	7	0.00139776	0.0	0.0029	5008	,	,		14448	0.0		0.005	False		,,,				2504	0.0				GBM(129;1929 2344 25209 33204)	uc002fly.3		NaN																	0				large_intestine(2)	2	GRCh37	CM980820	GALNS	M	rs150734270	c.(1126-1128)CGG>CAG		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)	C	GLN/ARG	1,4393	2.1+/-5.4	0,1,2196	28.0	29.0	28.0		1127	-2.8	0.2	16	dbSNP_134	28	16,8584	10.5+/-38.8	0,16,4284	yes	missense	GALNS	NM_000512.4	43	0,17,6480	TT,TC,CC		0.186,0.0228,0.1308	benign	376/523	88893122	17,12977	2197	4300	6497	SO:0001583	missense	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88893122C>T	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.1127G>A	16.37:g.88893122C>T	ENSP00000268695:p.Arg376Gln					GALNS_uc010cid.2_Missense_Mutation_p.R382Q|GALNS_uc002flz.3_Missense_Mutation_p.R59Q	p.R376Q	NM_000512	NP_000503	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	10	1216	-			376		R -> Q (in MPS4A; severe form).			Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	c.1127G>A	CCDS10970.1	5	0.0022893772893772895	0	0.0	2	0.0055248618784530384	0	0.0	3	0.00395778364116095	C	6.207	0.406403	0.11754	2.28E-4	0.00186	ENSG00000141012	ENST00000268695;ENST00000542788	D;D	0.93488	-3.23;-3.23	5.43	-2.81	0.05805	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.908483	0.09491	N	0.794912	T	0.80358	0.4608	N	0.12853	0.265	0.09310	N	1	B;B	0.18310	0.007;0.027	B;B	0.08055	0.003;0.003	T	0.66064	-0.6016	10	0.31617	T	0.26	.	12.0153	0.53311	0.0:0.2983:0.0:0.7017	.	376;376	B2R6P1;P34059	.;GALNS_HUMAN	Q	376;301	ENSP00000268695:R376Q;ENSP00000438197:R301Q	ENSP00000268695:R376Q	R	-	2	0	GALNS	87420623	0.004000	0.15560	0.161000	0.22692	0.072000	0.16883	-0.448000	0.06820	-0.733000	0.04850	-0.755000	0.03482	CGG		0.662	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1				21	20	0	0	0	0.000586117	0	21	20		
MYBBP1A	10514	broad.mit.edu	37	17	4445105	4445105	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr17:4445105C>A	ENST00000254718.4	-	23	3475	c.3169G>T	c.(3169-3171)Ggc>Tgc	p.G1057C	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.G1057C			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1057					cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGGACCTGGCCCATCAGCTGC	0.627																																						uc002fyb.3		NaN																	0				ovary(1)|skin(1)	2						c.(3169-3171)GGC>TGC		MYB binding protein 1a isoform 2							83.0	77.0	79.0					17																	4445105		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4445105C>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.3169G>T	17.37:g.4445105C>A	ENSP00000254718:p.Gly1057Cys					MYBBP1A_uc002fxz.3_Missense_Mutation_p.G1057C|MYBBP1A_uc002fya.3_Missense_Mutation_p.G2C|MYBBP1A_uc010vsa.1_Missense_Mutation_p.G99C	p.G1057C	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN			23	3231	-			1057					Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.3169G>T	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	C	15.06	2.722162	0.48728	.	.	ENSG00000132382	ENST00000381556;ENST00000254718	T;T	0.69175	-0.38;-0.38	4.73	0.473	0.16763	Armadillo-type fold (1);	1.014770	0.07842	N	0.963258	T	0.66297	0.2775	L	0.27053	0.805	0.09310	N	1	D;D	0.76494	0.998;0.999	P;P	0.61722	0.784;0.893	T	0.55335	-0.8157	10	0.62326	D	0.03	-10.1605	6.5642	0.22503	0.0:0.5804:0.0:0.4196	.	1057;1057	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	C	1057	ENSP00000370968:G1057C;ENSP00000254718:G1057C	ENSP00000254718:G1057C	G	-	1	0	MYBBP1A	4391854	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-1.997000	0.01470	-0.019000	0.14055	0.655000	0.94253	GGC		0.627	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2		NM_014520		30	96	1	0	1.99505e-19	0.000409698	2.02916e-18	30	96		
NCOR1	9611	broad.mit.edu	37	17	16029478	16029478	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr17:16029478C>A	ENST00000268712.3	-	15	1809	c.1552G>T	c.(1552-1554)Gaa>Taa	p.E518*	NCOR1_ENST00000395851.1_Nonsense_Mutation_p.E518*|NCOR1_ENST00000395848.1_Nonsense_Mutation_p.E409*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	518					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ttatcctcttctttttcttct	0.318																																						uc002gpo.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(1552-1554)GAA>TAA		nuclear receptor co-repressor 1							32.0	32.0	32.0					17																	16029478		2198	4295	6493	SO:0001587	stop_gained	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16029478C>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.1552G>T	17.37:g.16029478C>A	ENSP00000268712:p.Glu518*					NCOR1_uc002gpn.2_Nonsense_Mutation_p.E518*|NCOR1_uc002gpp.1_Nonsense_Mutation_p.E409*|NCOR1_uc002gpr.2_Nonsense_Mutation_p.E409*|NCOR1_uc002gps.1_Nonsense_Mutation_p.E527*|NCOR1_uc010coz.1_Nonsense_Mutation_p.E334*|NCOR1_uc010cpb.1_Nonsense_Mutation_p.E528*|NCOR1_uc010cpa.1_Nonsense_Mutation_p.E519*	p.E518*	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	15	1792	-			518			Potential.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	ENST00000268712.3	37	c.1552G>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	c	36	5.650487	0.96714	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000458113;ENST00000395848;ENST00000411510;ENST00000436828	.	.	.	4.88	4.88	0.63580	.	0.420309	0.26951	N	0.021668	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-11.6423	15.1693	0.72858	0.0:1.0:0.0:0.0	.	.	.	.	X	518;518;409;527;409;519;527	.	ENSP00000268712:E518X	E	-	1	0	NCOR1	15970203	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.343000	0.59348	2.417000	0.82017	0.552000	0.68991	GAA		0.318	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311		19	28	1	0	6.49762e-13	0.00074312	6.49762e-12	19	28		
SLC13A2	9058	broad.mit.edu	37	17	26821083	26821083	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr17:26821083C>T	ENST00000314669.5	+	8	1566	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	SLC13A2_ENST00000537681.1_Silent_p.F311F|SLC13A2_ENST00000444914.3_Silent_p.F431F|SLC13A2_ENST00000545060.1_Silent_p.F339F	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	382					dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TAATTATGTTCATCATACCCT	0.607																																						uc002hbh.2		NaN																	0					0						c.(1144-1146)TTC>TTT		solute carrier family 13, member 2 isoform b	Succinic acid(DB00139)						68.0	69.0	69.0					17																	26821083		2203	4300	6503	SO:0001819	synonymous_variant	9058					integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	g.chr17:26821083C>T	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.1146C>T	17.37:g.26821083C>T						SLC13A2_uc010wal.1_3'UTR|SLC13A2_uc010wam.1_Silent_p.F338F|SLC13A2_uc010wan.1_Silent_p.F431F|SLC13A2_uc010wao.1_Silent_p.F339F|SLC13A2_uc002hbi.2_Silent_p.F311F	p.F382F	NM_003984	NP_003975	Q13183	S13A2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	8	1213	+	all_lung(13;0.000871)|Lung NSC(42;0.0027)		382			Helical; (Potential).		B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	ENST00000314669.5	37	c.1146C>T	CCDS11231.1																																																																																				0.607	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255722.1		NM_003984		17	91	0	0	0	0.000175454	0	17	91		
SRCIN1	80725	broad.mit.edu	37	17	36705305	36705305	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr17:36705305G>A	ENST00000264659.7	-	16	3328	c.3104C>T	c.(3103-3105)tCg>tTg	p.S1035L	SRCIN1_ENST00000578925.1_Missense_Mutation_p.S1069L|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	907					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GATGAAGGCCGAGTCCTTCTT	0.632																																						uc002hqd.2		NaN																	0					0						c.(3103-3105)TCG>TTG		SNAP25-interacting protein							48.0	52.0	51.0					17																	36705305		1920	4135	6055	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36705305G>A		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.3104C>T	17.37:g.36705305G>A	ENSP00000264659:p.Ser1035Leu					SRCIN1_uc002hqf.1_Missense_Mutation_p.S907L|SRCIN1_uc002hqe.2_Missense_Mutation_p.S889L	p.S1035L	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN			16	3329	-			907					Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.3104C>T	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448436	0.63178	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.48201	0.82	5.3	5.3	0.74995	.	0.428883	0.23431	N	0.048248	T	0.40272	0.1110	L	0.50333	1.59	0.35292	D	0.782243	P;P;P	0.48089	0.769;0.905;0.769	B;B;B	0.32393	0.088;0.145;0.088	T	0.61292	-0.7092	10	0.62326	D	0.03	-3.8132	17.719	0.88345	0.0:0.0:1.0:0.0	.	907;907;1035	Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;SRCN1_HUMAN;.	L	1035;816;889	ENSP00000264659:S1035L	ENSP00000264659:S1035L	S	-	2	0	SRCIN1	33958831	0.960000	0.32886	0.936000	0.37596	0.927000	0.56198	6.525000	0.73795	2.479000	0.83701	0.561000	0.74099	TCG		0.632	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4		NM_025248		35	62	0	0	0	0.000319135	0	35	62		
EFCAB13	124989	broad.mit.edu	37	17	45447812	45447812	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr17:45447812T>C	ENST00000331493.2	+	11	1226	c.815T>C	c.(814-816)aTg>aCg	p.M272T	EFCAB13_ENST00000517484.1_Missense_Mutation_p.M176T	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	272						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										GGTAACCACATGGTGGATATT	0.318																																						uc002iln.2		NaN																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(814-816)ATG>ACG		hypothetical protein LOC124989							130.0	137.0	135.0					17																	45447812		2203	4293	6496	SO:0001583	missense	124989						calcium ion binding	g.chr17:45447812T>C	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.815T>C	17.37:g.45447812T>C	ENSP00000332111:p.Met272Thr					C17orf57_uc002ilm.2_Missense_Mutation_p.M176T|C17orf57_uc002ill.1_Missense_Mutation_p.M28T|C17orf57_uc010daz.1_Missense_Mutation_p.M224T	p.M272T	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN			11	1226	+			272					G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.815T>C	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	T	9.358	1.067183	0.20067	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.63096	0.99;-0.02	3.86	0.0981	0.14496	EF-hand-like domain (1);	0.147352	0.32120	N	0.006557	T	0.38480	0.1042	L	0.34521	1.04	0.20926	N	0.999829	B;B;B	0.25312	0.123;0.123;0.02	B;B;B	0.16289	0.015;0.015;0.009	T	0.09509	-1.0671	10	0.30854	T	0.27	-15.137	0.7848	0.01047	0.1989:0.1202:0.2056:0.4754	.	224;272;176	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	T	272;176;224	ENSP00000332111:M272T;ENSP00000430048:M176T	ENSP00000332111:M272T	M	+	2	0	C17orf57	42802811	0.878000	0.30173	0.282000	0.24776	0.915000	0.54546	-0.012000	0.12699	-0.126000	0.11682	0.482000	0.46254	ATG		0.318	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4		NM_152347		23	54	0	0	0	0.000375601	0	23	54		
ANKRD30B	374860	broad.mit.edu	37	18	14779986	14779986	+	Missense_Mutation	SNP	G	G	A	rs76927023		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr18:14779986G>A	ENST00000358984.4	+	11	1628	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.R483Q|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	483										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAATCCAAACGAGAGGAAGAT	0.284																																						uc010dlo.2		NaN																	0				ovary(1)|skin(1)	2						c.(1447-1449)CGA>CAA		ankyrin repeat domain 30B							169.0	160.0	163.0					18																	14779986		692	1591	2283	SO:0001583	missense	374860							g.chr18:14779986G>A	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1448G>A	18.37:g.14779986G>A	ENSP00000351875:p.Arg483Gln					ANKRD30B_uc010xak.1_RNA	p.R483Q	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN			11	1628	+			483					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1448G>A	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	0.006	-2.092170	0.00364	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.36520	1.51;1.25	1.69	0.451	0.16629	.	.	.	.	.	T	0.09905	0.0243	N	0.00926	-1.1	0.09310	N	1	B	0.23854	0.092	B	0.08055	0.003	T	0.28138	-1.0053	9	0.22109	T	0.4	.	3.9288	0.09275	0.7996:0.0:0.2004:0.0	.	483	F8WAG3	.	Q	483	ENSP00000351875:R483Q;ENSP00000399031:R483Q	ENSP00000351875:R483Q	R	+	2	0	ANKRD30B	14769986	0.999000	0.42202	0.002000	0.10522	0.094000	0.18550	1.139000	0.31504	0.127000	0.18452	-1.326000	0.01283	CGA		0.284	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1		NM_001145029		7	29	0	0	0	0.000673444	0	7	29		
CCDC102B	79839	broad.mit.edu	37	18	66678339	66678339	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr18:66678339G>A	ENST00000360242.5	+	7	1549	c.1432G>A	c.(1432-1434)Gag>Aag	p.E478K	CCDC102B_ENST00000319445.6_Missense_Mutation_p.E478K|CCDC102B_ENST00000584156.1_Missense_Mutation_p.E478K	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	478										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AAAAGAAGATGAGGTACTACT	0.368																																						uc002lkk.2		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(1432-1434)GAG>AAG		coiled-coil domain containing 102B							89.0	86.0	87.0					18																	66678339		2203	4300	6503	SO:0001583	missense	79839							g.chr18:66678339G>A	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.1432G>A	18.37:g.66678339G>A	ENSP00000353377:p.Glu478Lys					CCDC102B_uc002lki.2_Missense_Mutation_p.E478K	p.E478K	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN			9	1655	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	478			Potential.		Q7Z467|Q8NDK7|Q9H5C1	Missense_Mutation	SNP	ENST00000360242.5	37	c.1432G>A	CCDS11996.2	.	.	.	.	.	.	.	.	.	.	G	7.580	0.668609	0.14776	.	.	ENSG00000150636	ENST00000319445;ENST00000360242	T;T	0.18016	2.24;2.24	5.2	-0.031	0.13911	.	0.583448	0.15354	N	0.266777	T	0.16385	0.0394	M	0.71036	2.16	0.80722	D	1	B	0.19935	0.04	B	0.19666	0.026	T	0.06935	-1.0799	10	0.62326	D	0.03	-1.4304	3.0171	0.06063	0.2873:0.0:0.3901:0.3226	.	478	Q68D86	C102B_HUMAN	K	478	ENSP00000316237:E478K;ENSP00000353377:E478K	ENSP00000316237:E478K	E	+	1	0	CCDC102B	64829319	0.813000	0.29090	0.006000	0.13384	0.278000	0.26855	1.299000	0.33424	-0.348000	0.08286	0.591000	0.81541	GAG		0.368	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2		NM_024781		6	33	0	0	0	3.59834e-05	0	6	33		
MUC16	94025	broad.mit.edu	37	19	9014673	9014673	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:9014673C>G	ENST00000397910.4	-	31	38505	c.38302G>C	c.(38302-38304)Gat>Cat	p.D12768H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12770	SEA 5. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGATGGCATCCACTCCAGTG	0.547																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(38302-38304)GAT>CAT		mucin 16							53.0	42.0	45.0					19																	9014673		1792	4031	5823	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9014673C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38302G>C	19.37:g.9014673C>G	ENSP00000381008:p.Asp12768His					MUC16_uc010xki.1_5'Flank	p.D12768H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			31	38506	-			12770	Missing (in Ref. 3; AAK74120).		SEA 5.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.38302G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	11.09	1.535663	0.27475	.	.	ENSG00000181143	ENST00000397910	T	0.34859	1.34	3.03	3.03	0.35002	.	.	.	.	.	T	0.59487	0.2197	M	0.84082	2.675	.	.	.	D	0.89917	1.0	D	0.87578	0.998	T	0.71899	-0.4453	8	0.87932	D	0	.	9.6627	0.39965	0.0:1.0:0.0:0.0	.	12768	B5ME49	.	H	12768	ENSP00000381008:D12768H	ENSP00000381008:D12768H	D	-	1	0	MUC16	8875673	0.310000	0.24527	0.472000	0.27241	0.043000	0.13939	1.824000	0.39072	1.672000	0.50884	0.305000	0.20034	GAT		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		20	28	0	0	0	0.000227799	0	20	28		
MUC16	94025	broad.mit.edu	37	19	9017487	9017487	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:9017487C>G	ENST00000397910.4	-	26	38040	c.37837G>C	c.(37837-37839)Gat>Cat	p.D12613H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12615	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGATGGCATCCACTCCAGTG	0.547																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(37837-37839)GAT>CAT		mucin 16							52.0	50.0	51.0					19																	9017487		1808	4037	5845	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9017487C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37837G>C	19.37:g.9017487C>G	ENSP00000381008:p.Asp12613His						p.D12613H	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			26	38041	-			12615			SEA 4.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37837G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	4.524	0.097282	0.08681	.	.	ENSG00000181143	ENST00000397910	T	0.34859	1.34	3.35	2.19	0.27852	.	.	.	.	.	T	0.58293	0.2112	M	0.84326	2.69	.	.	.	D	0.89917	1.0	D	0.87578	0.998	T	0.68953	-0.5273	8	0.87932	D	0	.	8.2365	0.31629	0.2353:0.7647:0.0:0.0	.	12613	B5ME49	.	H	12613	ENSP00000381008:D12613H	ENSP00000381008:D12613H	D	-	1	0	MUC16	8878487	0.263000	0.24083	0.007000	0.13788	0.012000	0.07955	1.358000	0.34102	1.572000	0.49736	0.400000	0.26472	GAT		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		8	75	0	0	0	0.00010058	0	8	75		
COL5A3	50509	broad.mit.edu	37	19	10116237	10116237	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:10116237G>A	ENST00000264828.3	-	4	676	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	197	Laminin G-like.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTCCTACCTCGAAAGTCTTTT	0.532																																						uc002mmq.1		NaN																	0				ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(589-591)TTC>TTT		collagen, type V, alpha 3 preproprotein							67.0	68.0	68.0					19																	10116237		2203	4300	6503	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10116237G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.591C>T	19.37:g.10116237G>A							p.F197F	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		4	677	-			197			TSP N-terminal.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.591C>T	CCDS12222.1																																																																																				0.532	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1		NM_015719		11	96	0	0	0	0.000151284	0	11	96		
ICAM3	3385	broad.mit.edu	37	19	10445810	10445811	+	Missense_Mutation	DNP	CG	CG	AT			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:10445810_10445811CG>AT	ENST00000160262.5	-	4	1076_1077	c.868_869CG>AT	c.(868-870)CGg>ATg	p.R290M	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Missense_Mutation_p.R213M	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	290	Ig-like C2-type 3.				extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			GACGATCTCCCGGGCACCCTCC	0.668																																						uc002mob.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(868-870)CGG>ATG		intercellular adhesion molecule 3 precursor																																				SO:0001583	missense	3385				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding	g.chr19:10445810_10445811CG>AT		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.868_869delinsAT	19.37:g.10445810_10445811delinsAT	ENSP00000160262:p.Arg290Met					RAVER1_uc002moa.2_5'Flank|ICAM3_uc010dxd.1_Missense_Mutation_p.R213M|ICAM3_uc010xlf.1_3'UTR	p.R290M	NM_002162	NP_002153	P32942	ICAM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)		4	923_924	-			290			Extracellular (Potential).|Ig-like C2-type 3.		Q6PD68	Missense_Mutation	DNP	ENST00000160262.5	37	c.868_869CG>AT	CCDS12235.1																																																																																				0.668	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451234.1				13	274	0	0	0	6.4e-05	0	13	274		
CYP4F12	66002	broad.mit.edu	37	19	15791063	15791063	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:15791063C>T	ENST00000550308.1	+	4	733	c.353C>T	c.(352-354)gCa>gTa	p.A118V	CYP4F12_ENST00000324632.10_Missense_Mutation_p.A118V	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	118					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	GCTGCCATTGCACCCAAGGAT	0.567																																						uc002nbl.2		NaN																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(352-354)GCA>GTA		cytochrome P450, family 4, subfamily F,							143.0	146.0	145.0					19																	15791063		2190	4291	6481	SO:0001583	missense	66002							g.chr19:15791063C>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.353C>T	19.37:g.15791063C>T	ENSP00000448998:p.Ala118Val					CYP4F12_uc010xoo.1_Missense_Mutation_p.A118V|CYP4F12_uc010xop.1_Missense_Mutation_p.A118V	p.A118V	NM_023944	NP_076433					4	414	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.353C>T	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	8.713	0.912488	0.17907	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.78707	-1.2;-1.2	2.36	1.32	0.21799	.	0.390235	0.21201	U	0.078467	T	0.70281	0.3206	L	0.45285	1.41	0.09310	N	1	P;P;B	0.39551	0.678;0.51;0.025	P;P;B	0.45406	0.458;0.479;0.17	T	0.59736	-0.7398	10	0.42905	T	0.14	.	5.2443	0.15488	0.0:0.8299:0.0:0.1701	.	118;118;118	B4E2R2;B4E270;Q9HCS2	.;.;CP4FC_HUMAN	V	118	ENSP00000448998:A118V;ENSP00000321821:A118V	ENSP00000321821:A118V	A	+	2	0	CYP4F12	15652063	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	-0.136000	0.10405	0.550000	0.28991	-0.424000	0.05967	GCA		0.567	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9				67	174	0	0	0	0.000781405	0	67	174		
MAST3	23031	broad.mit.edu	37	19	18245741	18245741	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:18245741G>A	ENST00000262811.6	+	16	1732	c.1732G>A	c.(1732-1734)Gtg>Atg	p.V578M		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	578	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GGTGGGCTGCGTGCCTTTCTT	0.617																																						uc002nhz.3		NaN																	0				large_intestine(2)|ovary(2)|stomach(1)	5						c.(1732-1734)GTG>ATG		microtubule associated serine/threonine kinase							108.0	115.0	113.0					19																	18245741		2077	4225	6302	SO:0001583	missense	23031						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr19:18245741G>A	AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.1732G>A	19.37:g.18245741G>A	ENSP00000262811:p.Val578Met						p.V578M	NM_015016	NP_055831	O60307	MAST3_HUMAN			16	1732	+			578			Protein kinase.		Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	ENST00000262811.6	37	c.1732G>A	CCDS46014.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785572	0.90282	.	.	ENSG00000099308	ENST00000262811	T	0.25085	1.82	4.8	4.8	0.61643	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056271	0.64402	D	0.000001	T	0.35248	0.0925	N	0.16567	0.415	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.37407	-0.9707	10	0.87932	D	0	-31.0561	16.8248	0.85928	0.0:0.0:1.0:0.0	.	578	O60307	MAST3_HUMAN	M	578	ENSP00000262811:V578M	ENSP00000262811:V578M	V	+	1	0	MAST3	18106741	1.000000	0.71417	0.995000	0.50966	0.973000	0.67179	9.729000	0.98795	2.222000	0.72286	0.313000	0.20887	GTG		0.617	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466526.2		XM_038150		45	91	0	0	0	0.000781405	0	45	91		
ZNF569	148266	broad.mit.edu	37	19	37903795	37903795	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:37903795G>A	ENST00000316950.6	-	6	2322	c.1765C>T	c.(1765-1767)Caa>Taa	p.Q589*	ZNF569_ENST00000392150.2_Nonsense_Mutation_p.Q430*|ZNF569_ENST00000392149.2_Nonsense_Mutation_p.Q589*	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	589					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAGTTCTTTGAGAGAAGGCT	0.418																																						uc002ogi.2		NaN																	0				breast(2)|skin(1)	3						c.(1765-1767)CAA>TAA		zinc finger protein 569							107.0	106.0	106.0					19																	37903795		2203	4300	6503	SO:0001587	stop_gained	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37903795G>A	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1765C>T	19.37:g.37903795G>A	ENSP00000325018:p.Gln589*					ZNF569_uc002ogh.2_Nonsense_Mutation_p.Q430*|ZNF569_uc002ogj.2_Nonsense_Mutation_p.Q613*	p.Q589*	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	2323	-			589			C2H2-type 15.		A8K1S2|Q15925|Q17RR6|Q96MQ2	Nonsense_Mutation	SNP	ENST00000316950.6	37	c.1765C>T	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	G	41	9.066694	0.99053	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	5.2989	0.15768	0.1046:0.0:0.6911:0.2043	.	.	.	.	X	589;245;430	.	ENSP00000325018:Q589X	Q	-	1	0	ZNF569	42595635	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.792000	0.26929	2.261000	0.74972	0.655000	0.94253	CAA		0.418	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2		NM_152484		32	72	0	0	0	0.000339439	0	32	72		
SIPA1L3	23094	broad.mit.edu	37	19	38682830	38682830	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:38682830G>A	ENST00000222345.6	+	17	4985	c.4476G>A	c.(4474-4476)ttG>ttA	p.L1492L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1492					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AACCGAGGTTGAGGGCATCCC	0.552																																						uc002ohk.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(4474-4476)TTG>TTA		signal-induced proliferation-associated 1 like							111.0	91.0	98.0					19																	38682830		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38682830G>A	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4476G>A	19.37:g.38682830G>A							p.L1492L	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		17	4985	+			1492					Q2TV87	Silent	SNP	ENST00000222345.6	37	c.4476G>A	CCDS33007.1																																																																																				0.552	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2		XM_032278		21	44	0	0	0	0.000295444	0	21	44		
NUMBL	9253	broad.mit.edu	37	19	41188699	41188699	+	Silent	SNP	T	T	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:41188699T>C	ENST00000252891.4	-	5	500	c.333A>G	c.(331-333)cgA>cgG	p.R111R	NUMBL_ENST00000598779.1_Silent_p.R70R|NUMBL_ENST00000540131.1_Silent_p.R70R|NUMBL_ENST00000599594.1_5'Flank	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	111	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TCACGGACTTTCGGCCCATCT	0.657																																						uc002oon.2		NaN																	0				lung(3)|ovary(1)|breast(1)	5						c.(331-333)CGA>CGG		numb homolog (Drosophila)-like							94.0	86.0	88.0					19																	41188699		2203	4300	6503	SO:0001819	synonymous_variant	9253				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	g.chr19:41188699T>C	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.333A>G	19.37:g.41188699T>C						NUMBL_uc010xvq.1_Silent_p.R70R|NUMBL_uc002ooo.2_Silent_p.R111R|NUMBL_uc010xvr.1_Silent_p.R70R	p.R111R	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)		5	501	-			111			PID.		Q7Z4J9	Silent	SNP	ENST00000252891.4	37	c.333A>G	CCDS12561.1																																																																																				0.657	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2		NM_004756		15	55	0	0	0	0.000308642	0	15	55		
ERCC2	2068	broad.mit.edu	37	19	45867337	45867337	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:45867337G>A	ENST00000391945.4	-	10	933	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	ERCC2_ENST00000221481.6_3'UTR|ERCC2_ENST00000391944.3_Missense_Mutation_p.R208W|ERCC2_ENST00000485403.2_Missense_Mutation_p.R262W|ERCC2_ENST00000391940.4_Missense_Mutation_p.R262W	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	286					7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		ACCAGACGCCGGTACTCGTCC	0.701			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NaN	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(2)|pancreas(1)	3						c.(856-858)CGG>TGG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							6.0	8.0	7.0					19																	45867337		2097	4180	6277	SO:0001583	missense	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45867337G>A		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.856C>T	19.37:g.45867337G>A	ENSP00000375809:p.Arg286Trp					ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.R208W|ERCC2_uc002pbk.2_Missense_Mutation_p.R262W|ERCC2_uc002pbl.3_Missense_Mutation_p.R262W|ERCC2_uc010xxj.1_RNA	p.R286W	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	10	903	-		Ovarian(192;0.0728)|all_neural(266;0.112)	286					Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.856C>T	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.112843	0.77210	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.65178	-0.14;-0.14;-0.14	5.55	4.51	0.55191	Domain of unknown function DUF1227 (1);	0.111681	0.64402	D	0.000014	T	0.71256	0.3318	L	0.58810	1.83	0.80722	D	1	D;D;D	0.65815	0.985;0.995;0.995	D;P;P	0.66979	0.948;0.892;0.849	T	0.72676	-0.4221	10	0.72032	D	0.01	-31.6183	7.8863	0.29653	0.0862:0.162:0.7518:0.0	.	208;262;286	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	W	236;262;286;208;262	ENSP00000375809:R286W;ENSP00000375808:R208W;ENSP00000375804:R262W	ENSP00000375804:R262W	R	-	1	2	ERCC2	50559177	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	1.315000	0.33608	1.335000	0.45486	0.561000	0.74099	CGG		0.701	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		NM_000400		9	16	0	0	0	0.000274275	0	9	16		
PLA2G4C	8605	broad.mit.edu	37	19	48609779	48609779	+	Splice_Site	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr19:48609779C>T	ENST00000599921.1	-	2	365	c.8G>A	c.(7-9)aGc>aAc	p.S3N	PLA2G4C_ENST00000599111.1_Splice_Site_p.K23K|PLA2G4C_ENST00000413144.2_Splice_Site_p.S3N|PLA2G4C_ENST00000354276.3_Splice_Site_p.S3N			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	3	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GAGGACTTACCTTCCCATGGT	0.502																																						uc002phx.2		NaN																	0				ovary(1)|skin(1)	2						c.(7-9)AGC>AAC		phospholipase A2, group IVC isoform 1 precursor							171.0	138.0	149.0					19																	48609779		2203	4300	6503	SO:0001630	splice_region_variant	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48609779C>T	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.8+1G>A	19.37:g.48609779C>T						PLA2G4C_uc002phw.2_5'Flank|PLA2G4C_uc010elr.2_Missense_Mutation_p.S3N|PLA2G4C_uc010xzd.1_Silent_p.K23K|PLA2G4C_uc002phy.3_Missense_Mutation_p.S3N	p.S3N	NM_003706	NP_003697	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	2	406	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	3			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.8G>A	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100955	0.37048	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.02863	4.15;4.13	0.72	0.72	0.18214	Lysophospholipase, catalytic domain (2);	0.544639	0.14694	U	0.303967	T	0.07188	0.0182	.	.	.	0.09310	N	0.999998	D;D	0.69078	0.969;0.997	P;P	0.58577	0.505;0.841	T	0.24119	-1.0169	7	.	.	.	-9.6043	.	.	.	.	3;3	Q8WWC5;Q9UP65	.;PA24C_HUMAN	N	3	ENSP00000346228:S3N;ENSP00000400036:S3N	.	S	-	2	0	PLA2G4C	53301591	0.066000	0.20996	0.243000	0.24186	0.055000	0.15305	0.212000	0.17497	0.654000	0.30846	0.205000	0.17691	AGC		0.502	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			Missense_Mutation	38	82	0	0	0	0.000319135	0	38	82		
NBAS	51594	broad.mit.edu	37	2	15676631	15676631	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:15676631C>G	ENST00000281513.5	-	8	583	c.558G>C	c.(556-558)ttG>ttC	p.L186F	NBAS_ENST00000441750.1_Missense_Mutation_p.L186F	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	186					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTAAAAATATCAACCCAGCAA	0.348																																						uc002rcc.1		NaN																	0				ovary(2)|liver(1)|skin(1)	4						c.(556-558)TTG>TTC		neuroblastoma-amplified protein							103.0	111.0	108.0					2																	15676631		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15676631C>G	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.558G>C	2.37:g.15676631C>G	ENSP00000281513:p.Leu186Phe					NBAS_uc002rcd.1_RNA	p.L186F	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			8	584	-			186					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.558G>C	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	14.25	2.479555	0.44044	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.58358	0.34;0.34	4.9	2.92	0.33932	Quinoprotein amine dehydrogenase, beta chain-like (1);	0.080085	0.52532	D	0.000076	T	0.62171	0.2406	L	0.50333	1.59	0.25244	N	0.989727	D	0.89917	1.0	D	0.85130	0.997	T	0.51180	-0.8738	10	0.87932	D	0	.	7.8827	0.29631	0.0:0.6114:0.3007:0.0878	.	186	A2RRP1	NBAS_HUMAN	F	186	ENSP00000413201:L186F;ENSP00000281513:L186F	ENSP00000281513:L186F	L	-	3	2	NBAS	15594082	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	1.420000	0.34804	0.980000	0.38523	0.585000	0.79938	TTG		0.348	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1		NM_015909		64	179	0	0	0	0.000781405	0	64	179		
MATN3	4148	broad.mit.edu	37	2	20202935	20202935	+	Silent	SNP	C	C	T	rs200161462		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:20202935C>T	ENST00000407540.3	-	3	965	c.903G>A	c.(901-903)aaG>aaA	p.K301K	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Intron	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	301	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACACGTTTTCTTGTCGGCAT	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18705	0.0		0.0	False		,,,				2504	0.0					uc002rdl.2		NaN																	0					0						c.(901-903)AAG>AAA		matrilin 3 precursor							128.0	120.0	123.0					2																	20202935		2029	4174	6203	SO:0001819	synonymous_variant	4148				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr2:20202935C>T	AJ001047	CCDS46226.1	2p24-p23	2008-06-03			ENSG00000132031	ENSG00000132031			6909	protein-coding gene	gene with protein product		602109				9287130, 9350998	Standard	NM_002381		Approved	EDM5, HOA	uc002rdl.3	O15232	OTTHUMG00000151788	ENST00000407540.3:c.903G>A	2.37:g.20202935C>T						MATN3_uc010exu.1_Intron	p.K301K	NM_002381	NP_002372	O15232	MATN3_HUMAN			3	966	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		301			EGF-like 1.		B2CPU0|Q4ZG02	Silent	SNP	ENST00000407540.3	37	c.903G>A	CCDS46226.1																																																																																				0.527	MATN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323925.1		NM_002381		20	45	0	0	0	0.000295444	0	20	45		
TMEM214	54867	broad.mit.edu	37	2	27259978	27259978	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:27259978G>T	ENST00000238788.9	+	8	1004	c.942G>T	c.(940-942)atG>atT	p.M314I	TMEM214_ENST00000404032.3_Missense_Mutation_p.M269I	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	314					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCTTCGGCATGATTGGCCCCA	0.567																																						uc002ria.3		NaN																	0					0						c.(940-942)ATG>ATT		transmembrane protein 214 isoform 1							177.0	171.0	173.0					2																	27259978		2012	4166	6178	SO:0001583	missense	54867					integral to membrane	protein binding	g.chr2:27259978G>T		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.942G>T	2.37:g.27259978G>T	ENSP00000238788:p.Met314Ile					TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Missense_Mutation_p.M269I	p.M314I	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN			8	1052	+			314					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	c.942G>T	CCDS42664.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	11.47|11.47|11.47	1.649708|1.649708|1.649708	0.29336|0.29336|0.29336	.|.|.	.|.|.	ENSG00000119777|ENSG00000119777|ENSG00000119777	ENST00000537397|ENST00000238788;ENST00000404032|ENST00000425720	.|T;T|.	.|0.38722|.	.|1.12;1.12|.	5.5|5.5|5.5	3.72|3.72|3.72	0.42706|0.42706|0.42706	.|.|.	.|0.223997|.	.|0.53938|.	.|N|.	.|0.000042|.	T|T|.	0.54870|0.54870|.	0.1885|0.1885|.	L|L|L	0.41710|0.41710|0.41710	1.295|1.295|1.295	0.36865|0.36865|0.36865	D|D|D	0.888625|0.888625|0.888625	.|B;P|.	.|0.36944|.	.|0.307;0.574|.	.|B;B|.	.|0.31101|.	.|0.046;0.124|.	T|T|.	0.56444|0.56444|.	-0.7978|-0.7978|.	6|10|.	0.36615|0.17832|.	T|T|.	0.2|0.49|.	-4.993|-4.993|-4.993	11.4214|11.4214|11.4214	0.49985|0.49985|0.49985	0.147:0.0:0.853:0.0|0.147:0.0:0.853:0.0|0.147:0.0:0.853:0.0	.|.|.	.|269;314|.	.|Q6NUQ4-2;Q6NUQ4|.	.|.;TM214_HUMAN|.	Y|I|L	56|314;269|73	.|ENSP00000238788:M314I;ENSP00000384417:M269I|.	ENSP00000445286:D56Y|ENSP00000238788:M314I|.	D|M|X	+|+|+	1|3|2	0|0|2	TMEM214|TMEM214|TMEM214	27113482|27113482|27113482	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.894000|0.894000|0.894000	0.52154|0.52154|0.52154	1.432000|1.432000|1.432000	0.34936|0.34936|0.34936	0.717000|0.717000|0.717000	0.32145|0.32145|0.32145	-0.339000|-0.339000|-0.339000	0.08088|0.08088|0.08088	GAT|ATG|TGA		0.567	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1		NM_017727		65	163	1	0	3.8128e-34	0.000781405	3.91141e-33	65	163		
PRR30	339779	broad.mit.edu	37	2	27361074	27361074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:27361074G>A	ENST00000335524.3	-	3	649	c.124C>T	c.(124-126)Cag>Tag	p.Q42*		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		42	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGGCCCTGATGGGGAGAG	0.627																																						uc002rjb.2		NaN																	0					0						c.(124-126)CAG>TAG		hypothetical protein LOC339779							80.0	76.0	78.0					2																	27361074		2203	4300	6503	SO:0001587	stop_gained	339779							g.chr2:27361074G>A																												ENST00000335524.3:c.124C>T	2.37:g.27361074G>A	ENSP00000335017:p.Gln42*						p.Q42*	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN			3	704	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		42			Pro-rich.		Q86UE2	Nonsense_Mutation	SNP	ENST00000335524.3	37	c.124C>T	CCDS1739.1	.	.	.	.	.	.	.	.	.	.	G	36	5.658402	0.96734	.	.	ENSG00000186143	ENST00000335524	.	.	.	4.19	3.28	0.37604	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	7.4598	11.1245	0.48310	0.0:0.0:0.8132:0.1868	.	.	.	.	X	42	.	ENSP00000335017:Q42X	Q	-	1	0	C2orf53	27214578	0.210000	0.23517	0.001000	0.08648	0.019000	0.09904	3.724000	0.54962	0.812000	0.34326	0.561000	0.74099	CAG		0.627	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1				19	30	0	0	0	0.00074312	0	19	30		
ACYP2	98	broad.mit.edu	37	2	54531938	54531938	+	Silent	SNP	A	A	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:54531938A>G	ENST00000394666.3	+	4	494	c.299A>G	c.(298-300)tAa>tGa	p.*100*	ACYP2_ENST00000606865.1_Silent_p.*84*|ACYP2_ENST00000607452.1_Silent_p.*173*|ACYP2_ENST00000303536.4_3'UTR	NM_138448.3	NP_612457.1	P14621	ACYP2_HUMAN	acylphosphatase 2, muscle type	0					phosphate-containing compound metabolic process (GO:0006796)	mitochondrion (GO:0005739)	acylphosphatase activity (GO:0003998)			lung(1)	1						ATTAGATACTAATAGAAGAGA	0.333																																						uc002rxq.3		NaN																	0					0						c.(298-300)TAA>TGA		acylphosphatase 2							31.0	33.0	32.0					2																	54531938		2202	4298	6500	SO:0001819	synonymous_variant	98				phosphate metabolic process		acylphosphatase activity	g.chr2:54531938A>G	X84195	CCDS1850.1	2p16.2	2008-02-05			ENSG00000170634	ENSG00000170634	3.6.1.7		180	protein-coding gene	gene with protein product		102595				8268218	Standard	NM_138448		Approved		uc002rxq.4	P14621	OTTHUMG00000129287	ENST00000394666.3:c.299A>G	2.37:g.54531938A>G							p.*100*	NM_138448	NP_612457	P14621	ACYP2_HUMAN			4	725	+			100						Silent	SNP	ENST00000394666.3	37	c.299A>G	CCDS1850.1																																																																																				0.333	ACYP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251415.3				14	16	0	0	0	0.000151284	0	14	16		
PAPOLG	64895	broad.mit.edu	37	2	60996024	60996024	+	Splice_Site	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:60996024G>A	ENST00000238714.3	+	5	686	c.437G>A	c.(436-438)aGa>aAa	p.R146K		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	146					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			AGAAACTTAAGAGTAAGTATC	0.284																																					GBM(183;1497 2932 21839 46797)	uc002sai.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(436-438)AGA>AAA		poly(A) polymerase gamma							33.0	34.0	34.0					2																	60996024		2200	4292	6492	SO:0001630	splice_region_variant	64895				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr2:60996024G>A	AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.438+1G>A	2.37:g.60996024G>A						PAPOLG_uc002saj.2_5'UTR|PAPOLG_uc002sak.2_5'UTR	p.R146K	NM_022894	NP_075045	Q9BWT3	PAPOG_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)		5	668	+	all_hematologic(2;0.0797)		146					B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	ENST00000238714.3	37	c.437G>A	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.753966	0.89843	.	.	ENSG00000115421	ENST00000238714	.	.	.	5.61	5.61	0.85477	Nucleotidyl transferase domain (1);Poly(A) polymerase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.81875	0.4915	M	0.88310	2.945	0.80722	D	1	P	0.34662	0.462	P	0.48166	0.569	D	0.83509	0.0079	9	0.72032	D	0.01	-13.0566	18.1901	0.89804	0.0:0.0:1.0:0.0	.	146	Q9BWT3	PAPOG_HUMAN	K	146	.	ENSP00000238714:R146K	R	+	2	0	PAPOLG	60849528	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.667000	0.98616	2.654000	0.90174	0.491000	0.48974	AGA		0.284	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3		NM_022894	Missense_Mutation	12	15	0	0	0	0.00010058	0	12	15		
EIF2AK3	9451	broad.mit.edu	37	2	88894996	88894996	+	Silent	SNP	A	A	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:88894996A>G	ENST00000303236.3	-	3	925	c.624T>C	c.(622-624)taT>taC	p.Y208Y	EIF2AK3_ENST00000419748.1_Silent_p.Y57Y	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	208					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|bone mineralization (GO:0030282)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|chondrocyte development (GO:0002063)|endocrine pancreas development (GO:0031018)|endoplasmic reticulum organization (GO:0007029)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|fat cell differentiation (GO:0045444)|insulin secretion (GO:0030073)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of myelination (GO:0031642)|negative regulation of translation (GO:0017148)|negative regulation of translational initiation in response to stress (GO:0032057)|ossification (GO:0001503)|positive regulation of protein binding (GO:0032092)|positive regulation of signal transduction (GO:0009967)|protein autophosphorylation (GO:0046777)|protein homooligomerization (GO:0051260)|protein phosphorylation (GO:0006468)|regulation of fatty acid metabolic process (GO:0019217)|response to endoplasmic reticulum stress (GO:0034976)|skeletal system development (GO:0001501)|SREBP signaling pathway (GO:0032933)|translation (GO:0006412)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)			ovary(3)	3						CCTTTCCACTATATGCACTGA	0.318																																					GBM(138;671 1851 16235 39058 45249)	uc002stc.3		NaN																	0				ovary(3)	3						c.(622-624)TAT>TAC		eukaryotic translation initiation factor 2-alpha							66.0	63.0	64.0					2																	88894996		2203	4300	6503	SO:0001819	synonymous_variant	9451				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding	g.chr2:88894996A>G	AF110146	CCDS33241.1	2p12	2008-05-21			ENSG00000172071	ENSG00000172071			3255	protein-coding gene	gene with protein product		604032				10026192, 10575235	Standard	NM_004836		Approved	PEK, PERK	uc002stc.4	Q9NZJ5	OTTHUMG00000155046	ENST00000303236.3:c.624T>C	2.37:g.88894996A>G							p.Y208Y	NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN			3	826	-			208			Lumenal (Potential).		A0AVH1|A0AVH2|B2RCU9|O95846|Q53QY0|Q53SB1	Silent	SNP	ENST00000303236.3	37	c.624T>C	CCDS33241.1																																																																																				0.318	EIF2AK3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000338233.2		NM_004836		16	37	0	0	0	0.000566183	0	16	37		
BOLL	66037	broad.mit.edu	37	2	198621229	198621229	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:198621229A>T	ENST00000392296.4	-	9	961	c.652T>A	c.(652-654)Tat>Aat	p.Y218N	BOLL_ENST00000430004.1_Missense_Mutation_p.Y240N|BOLL_ENST00000282278.8_Missense_Mutation_p.Y109N|BOLL_ENST00000321801.7_Missense_Mutation_p.Y230N|AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000433157.1_Missense_Mutation_p.Y218N	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	218					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						ACTGGTTGATAAATAACCTCA	0.373																																						uc002uus.2		NaN																	0				ovary(2)	2						c.(652-654)TAT>AAT		boule isoform 2							81.0	77.0	79.0					2																	198621229		2203	4300	6503	SO:0001583	missense	66037				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity	g.chr2:198621229A>T		CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.652T>A	2.37:g.198621229A>T	ENSP00000376116:p.Tyr218Asn					uc002uup.2_Intron|BOLL_uc002uur.2_Missense_Mutation_p.Y224N|BOLL_uc002uut.2_Missense_Mutation_p.Y230N|BOLL_uc010zha.1_Missense_Mutation_p.Y109N|BOLL_uc002uuu.1_Missense_Mutation_p.Y246N	p.Y218N	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN			9	962	-			218					B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	ENST00000392296.4	37	c.652T>A	CCDS2325.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057213	0.76074	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000282278;ENST00000433157	T;T;T;T	0.34275	1.37;1.64;1.65;1.64	5.46	5.46	0.80206	.	0.000000	0.64402	D	0.000008	T	0.45856	0.1363	N	0.24115	0.695	0.44373	D	0.997276	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.985;0.998	D;D;D;P;D	0.85130	0.997;0.997;0.994;0.71;0.934	T	0.49643	-0.8918	10	0.87932	D	0	-12.9467	13.0562	0.58982	1.0:0.0:0.0:0.0	.	109;246;230;218;224	B4DZA4;Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;.;BOLL_HUMAN;.	N	240;218;230;109;218	ENSP00000397711:Y240N;ENSP00000376116:Y218N;ENSP00000314792:Y230N;ENSP00000396099:Y218N	ENSP00000282278:Y109N	Y	-	1	0	BOLL	198329474	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.659000	0.68010	2.083000	0.62718	0.455000	0.32223	TAT		0.373	BOLL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256107.3		NM_033030		8	28	0	0	0	0.000274275	0	8	28		
PIKFYVE	200576	broad.mit.edu	37	2	209189658	209189658	+	Silent	SNP	A	A	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:209189658A>T	ENST00000264380.4	+	19	2513	c.2355A>T	c.(2353-2355)cgA>cgT	p.R785R		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	785					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)			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						GAATCAGTCGAATGACCCAAG	0.343																																						uc002vcz.2		NaN																	0				ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(2353-2355)CGA>CGT		phosphatidylinositol-3-phosphate 5-kinase type							129.0	124.0	126.0					2																	209189658		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:209189658A>T	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.2355A>T	2.37:g.209189658A>T						PIKFYVE_uc010fun.1_Silent_p.R466R|PIKFYVE_uc002vcy.1_Silent_p.R729R	p.R785R	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			19	2513	+			785					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Silent	SNP	ENST00000264380.4	37	c.2355A>T	CCDS2382.1																																																																																				0.343	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2		NM_015040		25	58	0	0	0	0.00106085	0	25	58		
CXCR2	3579	broad.mit.edu	37	2	219000386	219000386	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:219000386C>T	ENST00000318507.2	+	3	1289	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	288					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)	p.R288S(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GACCTGTGAGCGCCGCAATCA	0.592																																						uc002vgz.1		NaN																	2	Substitution - Missense(2)		lung(2)	lung(1)|breast(1)	2						c.(862-864)CGC>TGC		interleukin 8 receptor beta							83.0	78.0	79.0					2																	219000386		2203	4300	6503	SO:0001583	missense	3579				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	g.chr2:219000386C>T	U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.862C>T	2.37:g.219000386C>T	ENSP00000319635:p.Arg288Cys					CXCR2_uc002vha.1_Missense_Mutation_p.R288C|CXCR2_uc002vhb.1_Missense_Mutation_p.R288C	p.R288C	NM_001557	NP_001548	P25025	CXCR2_HUMAN			4	1087	+			288			Extracellular (Potential).		Q8IUZ1|Q9P2T6|Q9P2T7	Missense_Mutation	SNP	ENST00000318507.2	37	c.862C>T	CCDS2408.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.654347	0.29425	.	.	ENSG00000180871	ENST00000318507	T	0.72167	-0.63	5.36	5.36	0.76844	GPCR, rhodopsin-like superfamily (1);	0.421540	0.25900	N	0.027577	T	0.80210	0.4581	M	0.61703	1.905	0.09310	N	0.999994	D	0.89917	1.0	D	0.75020	0.985	T	0.72030	-0.4413	9	.	.	.	.	11.4286	0.50027	0.0:0.9156:0.0:0.0844	.	288	P25025	CXCR2_HUMAN	C	288	ENSP00000319635:R288C	.	R	+	1	0	CXCR2	218708631	0.002000	0.14202	0.431000	0.26735	0.048000	0.14542	0.365000	0.20348	2.529000	0.85273	0.456000	0.33151	CGC		0.592	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2		NM_001557		7	95	0	0	0	8.12818e-05	0	7	95		
FAM134A	79137	broad.mit.edu	37	2	220047272	220047272	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:220047272C>T	ENST00000430297.2	+	9	1689	c.1553C>T	c.(1552-1554)cCt>cTt	p.P518L		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	518						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAAAACCCCCTGATGCTCCA	0.607																																						uc002vjw.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1552-1554)CCT>CTT		hypothetical protein LOC79137							58.0	63.0	61.0					2																	220047272		2203	4300	6503	SO:0001583	missense	79137					endoplasmic reticulum|integral to membrane		g.chr2:220047272C>T	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.1553C>T	2.37:g.220047272C>T	ENSP00000395249:p.Pro518Leu					FAM134A_uc010fwc.2_Missense_Mutation_p.P311L|FAM134A_uc002vjx.2_Missense_Mutation_p.P276L	p.P518L	NM_024293	NP_077269	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1689	+		Renal(207;0.0915)	518					Q6P1P5|Q9H0K7	Missense_Mutation	SNP	ENST00000430297.2	37	c.1553C>T	CCDS2434.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366533	0.61513	.	.	ENSG00000144567	ENST00000430297;ENST00000443518	T	0.34275	1.37	5.24	5.24	0.73138	.	0.422063	0.24652	N	0.036715	T	0.35278	0.0926	L	0.60455	1.87	0.45307	D	0.998309	B;B	0.22414	0.069;0.041	B;B	0.21360	0.034;0.025	T	0.13575	-1.0504	10	0.12766	T	0.61	-4.0891	16.7684	0.85529	0.0:1.0:0.0:0.0	.	276;518	E7EUL4;Q8NC44	.;F134A_HUMAN	L	518;276	ENSP00000395249:P518L	ENSP00000395249:P518L	P	+	2	0	FAM134A	219755516	0.997000	0.39634	1.000000	0.80357	0.930000	0.56654	5.190000	0.65104	2.724000	0.93272	0.563000	0.77884	CCT		0.607	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2		NM_024293		27	66	0	0	0	0.000720815	0	27	66		
TMEM198	130612	broad.mit.edu	37	2	220412380	220412380	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:220412380G>A	ENST00000344458.2	+	4	904	c.319G>A	c.(319-321)Ggg>Agg	p.G107R	MIR3132_ENST00000581997.1_RNA|RP11-256I23.1_ENST00000596829.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.G107R			Q66K66	TM198_HUMAN	transmembrane protein 198	107	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCTGCTCTGCGGGCTGGTGGC	0.687																																						uc002vme.2		NaN																	0				ovary(1)	1						c.(319-321)GGG>AGG		transmembrane protein 198							78.0	78.0	78.0					2																	220412380		2203	4299	6502	SO:0001583	missense	130612					integral to membrane		g.chr2:220412380G>A	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.319G>A	2.37:g.220412380G>A	ENSP00000343507:p.Gly107Arg					TMEM198_uc002vmf.2_Missense_Mutation_p.G107R	p.G107R	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	4	904	+		Renal(207;0.0376)	107			Helical; (Potential).|Leu-rich.			Missense_Mutation	SNP	ENST00000344458.2	37	c.319G>A	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.895138	0.91962	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	4.05	4.05	0.47172	.	0.110985	0.64402	D	0.000009	D	0.83663	0.5303	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87494	0.2429	9	0.87932	D	0	-19.2847	16.3706	0.83357	0.0:0.0:1.0:0.0	.	107	Q66K66	TM198_HUMAN	R	107	.	ENSP00000343507:G107R	G	+	1	0	TMEM198	220120624	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.472000	0.97709	2.253000	0.74438	0.591000	0.81541	GGG		0.687	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1		NM_001005209		14	125	0	0	0	0.000151284	0	14	125		
MTERF4	130916	broad.mit.edu	37	2	242039054	242039054	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:242039054C>G	ENST00000391980.2	-	2	335	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	MTERFD2_ENST00000495694.1_Missense_Mutation_p.E93Q|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000407095.3_Missense_Mutation_p.E93Q|MTERFD2_ENST00000406593.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		93					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		ATGACCCTCTCTAGCTCCAAG	0.507																																						uc002wan.1		NaN																	0				ovary(1)	1						c.(364-366)GAG>CAG		MTERF domain containing 2							115.0	114.0	114.0					2																	242039054		2203	4300	6503	SO:0001583	missense	130916							g.chr2:242039054C>G																												ENST00000391980.2:c.277G>C	2.37:g.242039054C>G	ENSP00000375840:p.Glu93Gln					MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Missense_Mutation_p.E93Q	p.E122Q	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	1	857	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	93					A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	c.364G>C	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.145130	0.57044	.	.	ENSG00000122085	ENST00000495694;ENST00000401626;ENST00000391980;ENST00000424798;ENST00000407095;ENST00000434791	T;T;T;T;T;T	0.59083	0.29;0.31;2.51;2.51;2.51;0.37	4.68	3.77	0.43336	.	0.431979	0.19082	N	0.123239	T	0.59459	0.2195	M	0.70595	2.14	0.09310	N	1	P;P	0.43169	0.8;0.8	P;P	0.44447	0.45;0.45	T	0.51156	-0.8741	10	0.32370	T	0.25	-4.3444	11.7984	0.52112	0.0:0.8218:0.1782:0.0	.	93;93	B4DKD5;Q7Z6M4	.;MTER2_HUMAN	Q	93;93;93;86;93;72	ENSP00000419315:E93Q;ENSP00000385183:E93Q;ENSP00000375840:E93Q;ENSP00000409023:E86Q;ENSP00000385630:E93Q;ENSP00000393063:E72Q	ENSP00000241527:E93Q	E	-	1	0	MTERFD2	241687727	0.010000	0.17322	0.006000	0.13384	0.007000	0.05969	2.364000	0.44187	0.924000	0.37069	0.591000	0.81541	GAG		0.507	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4				44	82	0	0	0	0.000781405	0	44	82		
ZNF343	79175	broad.mit.edu	37	20	2464291	2464291	+	Missense_Mutation	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr20:2464291C>A	ENST00000278772.4	-	6	1803	c.1316G>T	c.(1315-1317)tGc>tTc	p.C439F	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						ACACTCCCTGCAAACATAAGG	0.522																																						uc002wge.1		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1315-1317)TGC>TTC		zinc finger protein 343							111.0	95.0	100.0					20																	2464291		2203	4300	6503	SO:0001583	missense	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2464291C>A	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1316G>T	20.37:g.2464291C>A	ENSP00000278772:p.Cys439Phe					ZNF343_uc010gao.1_Missense_Mutation_p.C439F|ZNF343_uc002wgd.1_Missense_Mutation_p.C349F	p.C439F	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN			6	1804	-			439			C2H2-type 7.		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	c.1316G>T	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557267	0.45590	.	.	ENSG00000088876	ENST00000278772	D	0.85088	-1.94	2.65	1.67	0.24075	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93370	0.7886	H	0.96208	3.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91498	0.5217	9	0.87932	D	0	.	7.3566	0.26723	0.0:0.8562:0.0:0.1438	.	439	Q6P1L6	ZN343_HUMAN	F	439	ENSP00000278772:C439F	ENSP00000278772:C439F	C	-	2	0	ZNF343	2412291	0.996000	0.38824	0.002000	0.10522	0.026000	0.11368	3.832000	0.55783	0.444000	0.26612	0.586000	0.80456	TGC		0.522	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1		NM_024325		16	41	1	0	6.72482e-11	0.000308642	6.61367e-10	16	41		
DLGAP4	22839	broad.mit.edu	37	20	35064675	35064675	+	Nonsense_Mutation	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr20:35064675C>A	ENST00000373907.2	+	3	1362	c.1163C>A	c.(1162-1164)tCa>tAa	p.S388*	DLGAP4_ENST00000373913.3_Nonsense_Mutation_p.S388*|DLGAP4_ENST00000339266.5_Nonsense_Mutation_p.S388*|DLGAP4_ENST00000401952.2_Nonsense_Mutation_p.S388*			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	388					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCAAGCCCTCACCCAAGACC	0.711																																						uc002xff.2		NaN																	0				skin(2)|ovary(1)	3						c.(1162-1164)TCA>TAA		disks large-associated protein 4 isoform a							15.0	19.0	18.0					20																	35064675		2172	4286	6458	SO:0001587	stop_gained	22839				cell-cell signaling	membrane	protein binding	g.chr20:35064675C>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.1163C>A	20.37:g.35064675C>A	ENSP00000363014:p.Ser388*					DLGAP4_uc010zvp.1_Nonsense_Mutation_p.S388*	p.S388*	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN			4	1598	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	388					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Nonsense_Mutation	SNP	ENST00000373907.2	37	c.1163C>A		.	.	.	.	.	.	.	.	.	.	C	40	8.423783	0.98806	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	.	.	.	3.69	3.69	0.42338	.	0.144585	0.48286	D	0.000200	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.6107	0.68514	0.0:1.0:0.0:0.0	.	.	.	.	X	388	.	ENSP00000341633:S388X	S	+	2	0	DLGAP4	34498089	1.000000	0.71417	0.875000	0.34327	0.571000	0.35966	7.606000	0.82863	1.913000	0.55393	0.555000	0.69702	TCA		0.711	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2		NM_014902		14	29	1	0	1.3612e-06	0.000308642	1.28558e-05	14	29		
MAFB	9935	broad.mit.edu	37	20	39316580	39316580	+	Missense_Mutation	SNP	G	G	A	rs374680666		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr20:39316580G>A	ENST00000373313.2	-	1	1300	c.911C>T	c.(910-912)tCc>tTc	p.S304F	MAFB_ENST00000396967.1_Missense_Mutation_p.S304F	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	304					brain segmentation (GO:0035284)|inner ear morphogenesis (GO:0042472)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|respiratory gaseous exchange (GO:0007585)|rhombomere 5 development (GO:0021571)|rhombomere 6 development (GO:0021572)|segment specification (GO:0007379)|sensory organ development (GO:0007423)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				CCTGAAGCCGGAGTTGGCGAG	0.667			T	IGH@	MM																																	uc002xji.2		NaN		Dom	yes		20	20q11.2-q13.1	9935	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)			L	IGH@		MM		0					0						c.(910-912)TCC>TTC		transcription factor MAFB							65.0	71.0	69.0					20																	39316580		2203	4300	6503	SO:0001583	missense	9935				negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr20:39316580G>A	AF134157	CCDS13311.1	20q11.1-q13.1	2013-07-09	2013-07-09	2001-11-30	ENSG00000204103	ENSG00000204103			6408	protein-coding gene	gene with protein product		608968	"""Kreisler (mouse) maf-related leucine zipper homolog"""	KRML		10444328	Standard	NM_005461		Approved		uc002xji.3	Q9Y5Q3	OTTHUMG00000033052	ENST00000373313.2:c.911C>T	20.37:g.39316580G>A	ENSP00000362410:p.Ser304Phe						p.S304F	NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN			1	1297	-		Myeloproliferative disorder(115;0.00878)	304					B3KNE1|Q9H1F1	Missense_Mutation	SNP	ENST00000373313.2	37	c.911C>T	CCDS13311.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512546	0.27123	.	.	ENSG00000204103	ENST00000373313;ENST00000396967	D;D	0.97620	-4.46;-4.46	3.67	2.61	0.31194	.	1.447810	0.04095	N	0.312038	D	0.95937	0.8677	L	0.55834	1.745	0.35874	D	0.828424	P	0.37997	0.614	B	0.39738	0.308	D	0.91504	0.5221	10	0.42905	T	0.14	-5.2707	10.9241	0.47182	0.0:0.0:0.7307:0.2693	.	304	Q9Y5Q3	MAFB_HUMAN	F	304	ENSP00000362410:S304F;ENSP00000380167:S304F	ENSP00000362410:S304F	S	-	2	0	MAFB	38749994	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.206000	0.32321	2.072000	0.62099	0.456000	0.33151	TCC		0.667	MAFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080375.2				19	105	0	0	0	0.000958276	0	19	105		
EDN3	1908	broad.mit.edu	37	20	57875894	57875894	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr20:57875894C>T	ENST00000337938.2	+	1	413	c.27C>T	c.(25-27)ttC>ttT	p.F9F	EDN3_ENST00000371028.2_Silent_p.F9F|EDN3_ENST00000371025.3_Silent_p.F9F|EDN3_ENST00000395654.3_Silent_p.F9F|EDN3_ENST00000311585.7_Silent_p.F9F	NM_207034.1	NP_996917.1	P14138	EDN3_HUMAN	endothelin 3	9					blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|inositol phosphate-mediated signaling (GO:0048016)|melanocyte differentiation (GO:0030318)|multicellular organismal development (GO:0007275)|neural crest cell migration (GO:0001755)|neuron differentiation (GO:0030182)|neutrophil chemotaxis (GO:0030593)|peptide hormone secretion (GO:0030072)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|regulation of developmental pigmentation (GO:0048070)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|signal transduction (GO:0007165)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)|receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	19	all_lung(29;0.0115)					GGCTCCTTTTCGGGCTCACAG	0.721																																						uc002yap.2		NaN																	0				skin(1)	1						c.(25-27)TTC>TTT		endothelin 3 isoform 1 preproprotein							12.0	14.0	14.0					20																	57875894		2198	4288	6486	SO:0001819	synonymous_variant	1908				cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space|soluble fraction	endothelin B receptor binding|hormone activity	g.chr20:57875894C>T	X52001	CCDS13477.1, CCDS13478.1, CCDS13479.1	20q13.2-q13.3	2013-02-26			ENSG00000124205	ENSG00000124205		"""Endogenous ligands"""	3178	protein-coding gene	gene with protein product		131242					Standard	NM_000114		Approved	ET3	uc002yaq.3	P14138	OTTHUMG00000032867	ENST00000337938.2:c.27C>T	20.37:g.57875894C>T						EDN3_uc002yao.1_Silent_p.F9F|EDN3_uc002yaq.2_Silent_p.F9F|EDN3_uc002yar.2_Silent_p.F9F|EDN3_uc002yas.2_Silent_p.F9F	p.F9F	NM_000114	NP_000105	P14138	EDN3_HUMAN			1	396	+	all_lung(29;0.0115)		9					E1P5I5|Q03229|Q7Z6D2|Q9UGT7	Silent	SNP	ENST00000337938.2	37	c.27C>T	CCDS13477.1																																																																																				0.721	EDN3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079919.2		NM_000114		12	22	0	0	0	0.000308642	0	12	22		
POTEH	23784	broad.mit.edu	37	22	16287731	16287731	+	Missense_Mutation	SNP	G	G	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr22:16287731G>T	ENST00000343518.6	-	1	206	c.155C>A	c.(154-156)tCt>tAt	p.S52Y		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	52										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTTCATAGCAGAATCGTCGTG	0.612																																						uc010gqp.2		NaN																	0				skin(1)	1						c.(154-156)TCT>TAT		ANKRD26-like family C, member 3							98.0	114.0	109.0					22																	16287731		1720	3276	4996	SO:0001583	missense	23784							g.chr22:16287731G>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.155C>A	22.37:g.16287731G>T	ENSP00000340610:p.Ser52Tyr					POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Translation_Start_Site	p.S52Y	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN			1	207	-			52					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.155C>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	8.523	0.869239	0.17322	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.42131	0.98	.	.	.	.	.	.	.	.	T	0.45458	0.1343	L	0.27053	0.805	0.09310	N	1	D	0.69078	0.997	D	0.76071	0.987	T	0.31668	-0.9935	7	0.87932	D	0	.	.	.	.	.	52	Q6S545	POTEH_HUMAN	Y	52	ENSP00000340610:S52Y	ENSP00000340610:S52Y	S	-	2	0	POTEH	14667731	0.002000	0.14202	0.001000	0.08648	0.001000	0.01503	0.224000	0.17738	0.073000	0.16731	0.074000	0.15403	TCT		0.612	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4		NM_001136213		87	442	1	0	5.96743e-59	0.000781405	6.17499e-58	87	442		
TOB2	10766	broad.mit.edu	37	22	41833080	41833080	+	Silent	SNP	C	C	T	rs61756254		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr22:41833080C>T	ENST00000327492.3	-	2	976	c.270G>A	c.(268-270)ctG>ctA	p.L90L		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	90					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						TCCAGACACTCAGCTCCTCAG	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17589	0.0		0.0	False		,,,				2504	0.0					uc003azz.1		NaN																	0				ovary(1)	1						c.(268-270)CTG>CTA		transducer of ERBB2, 2							86.0	75.0	79.0					22																	41833080		2203	4300	6503	SO:0001819	synonymous_variant	10766				female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus		g.chr22:41833080C>T	D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.270G>A	22.37:g.41833080C>T							p.L90L	NM_016272	NP_057356	Q14106	TOB2_HUMAN			2	977	-			90					Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Silent	SNP	ENST00000327492.3	37	c.270G>A	CCDS14015.1																																																																																				0.597	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320699.1		NM_016272		40	88	0	0	0	0.000589545	0	40	88		
SRGAP3	9901	broad.mit.edu	37	3	9032407	9032407	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:9032407C>T	ENST00000383836.3	-	21	3102	c.2675G>A	c.(2674-2676)tGc>tAc	p.C892Y	SRGAP3_ENST00000360413.3_Missense_Mutation_p.C868Y	NM_014850.3	NP_055665.1	O43295	SRGP3_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	892					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		GCTGCTGGGGCAGGCAGCAGC	0.697			T	RAF1	pilocytic astrocytoma																																	uc003brf.1		NaN		Dom	yes		3	3p25.3	9901	T	SLIT-ROBO Rho GTPase activating protein 3			M	RAF1		pilocytic astrocytoma	SRGAP3/RAF1(4)	0				central_nervous_system(4)|skin(3)|urinary_tract(1)|breast(1)	9						c.(2674-2676)TGC>TAC		SLIT-ROBO Rho GTPase activating protein 3							10.0	13.0	12.0					3																	9032407		2183	4272	6455	SO:0001583	missense	9901				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr3:9032407C>T	AB007871	CCDS2572.1, CCDS33689.1	3p25.3	2011-07-04	2004-11-12	2004-11-12	ENSG00000196220	ENSG00000196220		"""Rho GTPase activating proteins"""	19744	protein-coding gene	gene with protein product		606525	"""SLIT-ROBO Rho GTPase activating protein 2"""	SRGAP2		12195014	Standard	NM_014850		Approved	KIAA0411, MEGAP, WRP, ARHGAP14	uc003brf.2	O43295	OTTHUMG00000090589	ENST00000383836.3:c.2675G>A	3.37:g.9032407C>T	ENSP00000373347:p.Cys892Tyr					SRGAP3_uc003brg.1_Missense_Mutation_p.C868Y	p.C892Y	NM_014850	NP_055665	O43295	SRGP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0563)	21	3351	-			892					Q8IX13|Q8IZV8	Missense_Mutation	SNP	ENST00000383836.3	37	c.2675G>A	CCDS2572.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044192	0.75732	.	.	ENSG00000196220	ENST00000383836;ENST00000360413	T;T	0.24538	1.85;2.25	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.33469	0.0864	L	0.36672	1.1	0.80722	D	1	D;D	0.60160	0.987;0.978	P;P	0.52217	0.693;0.496	T	0.03148	-1.1067	10	0.45353	T	0.12	.	18.1734	0.89753	0.0:1.0:0.0:0.0	.	868;892	O43295-2;O43295	.;SRGP2_HUMAN	Y	892;868	ENSP00000373347:C892Y;ENSP00000353587:C868Y	ENSP00000353587:C868Y	C	-	2	0	SRGAP3	9007407	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.487000	0.81328	2.392000	0.81423	0.655000	0.94253	TGC		0.697	SRGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207137.3				12	18	0	0	0	0.00010058	0	12	18		
ZKSCAN7	55888	broad.mit.edu	37	3	44598778	44598778	+	Missense_Mutation	SNP	G	G	A	rs370899432		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:44598778G>A	ENST00000273320.3	+	2	668	c.239G>A	c.(238-240)cGc>cAc	p.R80H	ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.R80H|ZKSCAN7_ENST00000431636.1_Missense_Mutation_p.R80H|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Missense_Mutation_p.R80H	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	80	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)										GAGCTCTGCCGCTGGTGGCTC	0.607																																						uc010hin.2		NaN																	0				ovary(2)	2						c.(238-240)CGC>CAC		zinc finger protein 167 isoform 1		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	52.0	53.0	52.0		239,239	-7.0	0.3	3		52	1,8599		0,1,4299	no	missense,missense	ZNF167	NM_018651.2,NM_025169.1	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	80/755,80/277	44598778	1,13005	2203	4300	6503	SO:0001583	missense	55888				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44598778G>A	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.239G>A	3.37:g.44598778G>A	ENSP00000273320:p.Arg80His					ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Missense_Mutation_p.R80H|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Missense_Mutation_p.R80H|ZNF167_uc003cnk.2_Missense_Mutation_p.R80H	p.R80H	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)	2	627	+			80			SCAN box.		A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.239G>A	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	5.240	0.229844	0.09916	0.0	1.16E-4	ENSG00000196345	ENST00000431636;ENST00000426540;ENST00000341840;ENST00000273320	T;T;T;T	0.05786	3.39;3.39;3.39;3.39	4.9	-7.0	0.01599	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	1.123200	0.07041	N	0.830067	T	0.05731	0.0150	L	0.35593	1.075	0.31377	N	0.679473	B;B	0.10296	0.0;0.003	B;B	0.09377	0.004;0.001	T	0.29640	-1.0005	10	0.22109	T	0.4	-0.1153	16.3261	0.82979	0.676:0.0:0.324:0.0	.	80;80	Q9P0L1;Q9P0L1-2	ZN167_HUMAN;.	H	80	ENSP00000416681:R80H;ENSP00000395524:R80H;ENSP00000345404:R80H;ENSP00000273320:R80H	ENSP00000273320:R80H	R	+	2	0	ZNF167	44573782	0.000000	0.05858	0.283000	0.24790	0.907000	0.53573	-1.674000	0.01949	-2.231000	0.00718	-1.731000	0.00696	CGC		0.607	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4		NM_018651		14	38	0	0	0	0.000151284	0	14	38		
CACNA2D2	9254	broad.mit.edu	37	3	50414954	50414954	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:50414954C>T	ENST00000479441.1	-	17	1569	c.1570G>A	c.(1570-1572)Gtg>Atg	p.V524M	CACNA2D2_ENST00000395083.1_Missense_Mutation_p.V524M|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.V524M|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.V524M|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.V524M|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.V455M|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.V524M|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.V524M			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	524	Cache.				energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	ATGCCCATCACGCCCAGGATC	0.602																																						uc003daq.2		NaN																	0				lung(1)	1						c.(1570-1572)GTG>ATG		calcium channel, voltage-dependent, alpha	Gabapentin(DB00996)						89.0	62.0	71.0					3																	50414954		2203	4300	6503	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50414954C>T	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.1570G>A	3.37:g.50414954C>T	ENSP00000418081:p.Val524Met					CACNA2D2_uc003dap.2_Missense_Mutation_p.V524M	p.V524M	NM_006030	NP_006021	Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	17	1608	-			524			Cache.|Extracellular (Potential).		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.1570G>A	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981614	0.93044	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.24723	1.92;1.86;1.84;1.89;1.92;1.85;1.85;1.92	5.35	5.35	0.76521	Cache (1);	0.000000	0.64402	D	0.000001	T	0.66733	0.2819	H	0.96889	3.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	T	0.79492	-0.1781	10	0.87932	D	0	-17.5549	18.0362	0.89303	0.0:1.0:0.0:0.0	.	524;524	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	M	524;524;524;455;524;524;524;524	ENSP00000407393:V524M;ENSP00000404631:V524M;ENSP00000266039:V524M;ENSP00000354228:V455M;ENSP00000390526:V524M;ENSP00000378519:V524M;ENSP00000390329:V524M;ENSP00000418081:V524M	ENSP00000266039:V524M	V	-	1	0	CACNA2D2	50389958	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.688000	0.84153	2.489000	0.83994	0.585000	0.79938	GTG		0.602	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1		NM_006030		11	24	0	0	0	0.000673444	0	11	24		
BOC	91653	broad.mit.edu	37	3	112998756	112998756	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:112998756G>A	ENST00000495514.1	+	13	2810	c.2106G>A	c.(2104-2106)tcG>tcA	p.S702S	BOC_ENST00000355385.3_Silent_p.S702S|BOC_ENST00000273395.4_Silent_p.S703S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	702	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			ACGTGGTGTCGGGCTACAGCG	0.607																																						uc003dzx.2		NaN																	0				ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6						c.(2104-2106)TCG>TCA		brother of CDO precursor							66.0	67.0	67.0					3																	112998756		2203	4300	6503	SO:0001819	synonymous_variant	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:112998756G>A	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2106G>A	3.37:g.112998756G>A						BOC_uc003dzy.2_Silent_p.S702S|BOC_uc003dzz.2_Silent_p.S703S|BOC_uc003eab.2_Silent_p.S403S|BOC_uc003eac.2_Silent_p.S17S	p.S702S	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		13	2727	+			702			Extracellular (Potential).		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Silent	SNP	ENST00000495514.1	37	c.2106G>A	CCDS2971.1																																																																																				0.607	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3		NM_033254		46	81	0	0	0	0.000589545	0	46	81		
KIAA1407	57577	broad.mit.edu	37	3	113753924	113753924	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:113753924C>T	ENST00000295878.3	-	6	812	c.666G>A	c.(664-666)tcG>tcA	p.S222S	KIAA1407_ENST00000545063.1_Silent_p.S53S	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	222										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CCAAGAAGGCCGATTTTTTCA	0.423																																						uc003eax.2		NaN																	0				ovary(2)	2						c.(664-666)TCG>TCA		hypothetical protein LOC57577							131.0	130.0	131.0					3																	113753924		2203	4300	6503	SO:0001819	synonymous_variant	57577							g.chr3:113753924C>T	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.666G>A	3.37:g.113753924C>T						KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Silent_p.S200S|KIAA1407_uc011bip.1_Silent_p.S209S	p.S222S	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN			6	813	-			222			Potential.		B4DYL1|Q9P2E0	Silent	SNP	ENST00000295878.3	37	c.666G>A	CCDS2977.1																																																																																				0.423	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2		NM_020817		26	69	0	0	0	0.000586117	0	26	69		
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		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.E542K(545)|p.E542Q(10)		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)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	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	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		555	Substitution - Missense(555)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	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.(1624-1626)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	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.chr3:178936082G>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.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	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)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				16	42	0	0	0	0.000422831	0	16	42		
KLHL8	57563	broad.mit.edu	37	4	88099702	88099702	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr4:88099702G>A	ENST00000273963.5	-	5	1364	c.1023C>T	c.(1021-1023)atC>atT	p.I341I	KLHL8_ENST00000512111.1_Silent_p.I341I|KLHL8_ENST00000545252.1_5'UTR|KLHL8_ENST00000425278.2_Silent_p.I158I|KLHL8_ENST00000498875.2_Silent_p.I265I	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	341					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TGTTTTTGTTGATAGAATAGC	0.428																																						uc011cdb.1		NaN																	0					0						c.(1021-1023)ATC>ATT		kelch-like 8							152.0	140.0	144.0					4																	88099702		2203	4300	6503	SO:0001819	synonymous_variant	57563							g.chr4:88099702G>A	AB037799	CCDS3617.1, CCDS75163.1	4q21.3	2013-01-30	2013-01-30		ENSG00000145332	ENSG00000145332		"""Kelch-like"", ""BTB/POZ domain containing"""	18644	protein-coding gene	gene with protein product		611967	"""kelch-like 8 (Drosophila)"""				Standard	XM_005263153		Approved	KIAA1378	uc003hql.1	Q9P2G9	OTTHUMG00000130593	ENST00000273963.5:c.1023C>T	4.37:g.88099702G>A						KLHL8_uc003hql.1_Silent_p.I341I|KLHL8_uc003hqm.1_Silent_p.I265I|KLHL8_uc003hqn.1_Silent_p.I158I|KLHL8_uc010ikj.1_5'UTR	p.I341I	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000603)	5	1408	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	341			Kelch 1.		Q53XA3|Q6N018	Silent	SNP	ENST00000273963.5	37	c.1023C>T	CCDS3617.1																																																																																				0.428	KLHL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253040.1				8	64	0	0	0	0.000442599	0	8	64		
FGA	2243	broad.mit.edu	37	4	155506820	155506820	+	Silent	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr4:155506820C>G	ENST00000302053.3	-	5	1839	c.1761G>C	c.(1759-1761)acG>acC	p.T587T	FGA_ENST00000403106.3_Silent_p.T587T	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	587					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.T587T(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TGTTGTAACTCGTGCTACTAG	0.433																																					NSCLC(143;340 1922 20892 22370 48145)	uc003iod.1		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(1759-1761)ACG>ACC		fibrinogen, alpha polypeptide isoform alpha-E	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						130.0	125.0	127.0					4																	155506820		2203	4300	6503	SO:0001819	synonymous_variant	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155506820C>G		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1761G>C	4.37:g.155506820C>G						FGA_uc003ioe.1_Silent_p.T587T|FGA_uc003iof.1_3'UTR	p.T587T	NM_000508	NP_000499	P02671	FIBA_HUMAN			5	1819	-	all_hematologic(180;0.215)	Renal(120;0.0458)	587			By similarity.		A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Silent	SNP	ENST00000302053.3	37	c.1761G>C	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	C	2.443	-0.328084	0.05314	.	.	ENSG00000171560	ENST00000457487	.	.	.	4.89	-9.78	0.00496	.	.	.	.	.	T	0.26846	0.0657	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26155	-1.0111	5	0.38643	T	0.18	.	5.1969	0.15243	0.1522:0.2135:0.0756:0.5587	.	.	.	.	P	229	.	ENSP00000407891:R229P	R	-	2	0	FGA	155726270	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.365000	0.01079	-3.909000	0.00092	-1.731000	0.00696	CGA		0.433	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1		NM_000508		27	49	0	0	0	0.000878237	0	27	49		
TLL1	7092	broad.mit.edu	37	4	166795194	166795194	+	Missense_Mutation	SNP	G	G	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr4:166795194G>C	ENST00000061240.2	+	1	785	c.138G>C	c.(136-138)gaG>gaC	p.E46D	TLL1_ENST00000513213.1_Missense_Mutation_p.E46D|TLL1_ENST00000507499.1_Missense_Mutation_p.E46D	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	46					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATAAAACAGAGACTATAGATT	0.577																																						uc003irh.1		NaN																	0				skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(136-138)GAG>GAC		tolloid-like 1 precursor							159.0	170.0	166.0					4																	166795194		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166795194G>C	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.138G>C	4.37:g.166795194G>C	ENSP00000061240:p.Glu46Asp					TLL1_uc011cjn.1_Missense_Mutation_p.E46D|TLL1_uc011cjo.1_5'UTR	p.E46D	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	1	785	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	46					B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.138G>C	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	5.814	0.334404	0.11013	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.61742	0.31;0.21;0.08	4.29	2.46	0.29980	.	0.072092	0.53938	U	0.000049	T	0.45357	0.1338	L	0.49126	1.545	0.37780	D	0.926996	B;B	0.31318	0.319;0.319	B;B	0.24701	0.055;0.034	T	0.47114	-0.9142	10	0.48119	T	0.1	.	7.8016	0.29178	0.0929:0.1658:0.7413:0.0	.	46;46	E9PD25;O43897	.;TLL1_HUMAN	D	46	ENSP00000061240:E46D;ENSP00000426082:E46D;ENSP00000422937:E46D	ENSP00000061240:E46D	E	+	3	2	TLL1	167014644	0.927000	0.31430	0.070000	0.20053	0.025000	0.11179	1.191000	0.32138	0.722000	0.32252	0.462000	0.41574	GAG		0.577	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1				94	177	0	0	0	0.000781405	0	94	177		
DNAH5	1767	broad.mit.edu	37	5	13814929	13814929	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr5:13814929C>T	ENST00000265104.4	-	43	7119	c.7015G>A	c.(7015-7017)Ggt>Agt	p.G2339S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2339	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTACTGGACCATCAAGAATT	0.383									Kartagener syndrome																													uc003jfd.2		NaN																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(7015-7017)GGT>AGT		dynein, axonemal, heavy chain 5							69.0	63.0	65.0					5																	13814929		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13814929C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7015G>A	5.37:g.13814929C>T	ENSP00000265104:p.Gly2339Ser						p.G2339S	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			43	7057	-	Lung NSC(4;0.00476)		2339			AAA 2 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.7015G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	34	5.360580	0.95877	.	.	ENSG00000039139	ENST00000265104	D	0.98876	-5.2	5.22	5.22	0.72569	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	D	0.99390	0.9785	M	0.93978	3.48	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98681	1.0692	10	0.87932	D	0	.	18.765	0.91868	0.0:1.0:0.0:0.0	.	2339	Q8TE73	DYH5_HUMAN	S	2339	ENSP00000265104:G2339S	ENSP00000265104:G2339S	G	-	1	0	DNAH5	13867929	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.431000	0.82371	0.650000	0.86243	GGT		0.383	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2		NM_001369		13	24	0	0	0	0.000151284	0	13	24		
SKIV2L2	23517	broad.mit.edu	37	5	54674240	54674240	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr5:54674240G>A	ENST00000230640.5	+	17	2163	c.1909G>A	c.(1909-1911)Ggt>Agt	p.G637S	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.G536S	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	637					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGCCAAATTGGGTAAAGAAAT	0.308																																					Melanoma(2;92 134 23744 29976 33782)	uc003jpy.3		NaN																	0				ovary(1)|skin(1)	2						c.(1909-1911)GGT>AGT		superkiller viralicidic activity 2-like 2							55.0	59.0	57.0					5																	54674240		2202	4292	6494	SO:0001583	missense	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54674240G>A	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	ENST00000230640.5:c.1909G>A	5.37:g.54674240G>A	ENSP00000230640:p.Gly637Ser					SKIV2L2_uc011cqi.1_Missense_Mutation_p.G536S	p.G637S	NM_015360	NP_056175	P42285	SK2L2_HUMAN			17	2175	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	637					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Missense_Mutation	SNP	ENST00000230640.5	37	c.1909G>A	CCDS3967.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017901	0.35606	.	.	ENSG00000039123	ENST00000230640;ENST00000545714	T;T	0.28454	1.61;1.62	5.75	5.75	0.90469	.	0.147424	0.64402	D	0.000009	T	0.28234	0.0697	L	0.41124	1.26	0.80722	D	1	B;B	0.12013	0.005;0.005	B;B	0.15870	0.009;0.014	T	0.10965	-1.0607	10	0.11794	T	0.64	-17.69	19.9159	0.97061	0.0:0.0:1.0:0.0	.	536;637	F5H7E2;P42285	.;SK2L2_HUMAN	S	637;536	ENSP00000230640:G637S;ENSP00000442583:G536S	ENSP00000230640:G637S	G	+	1	0	SKIV2L2	54709997	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.279000	0.65597	2.700000	0.92200	0.655000	0.94253	GGT		0.308	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1				23	69	0	0	0	0.000375601	0	23	69		
PCDHA7	56141	broad.mit.edu	37	5	140215322	140215322	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr5:140215322G>A	ENST00000525929.1	+	1	1354	c.1354G>A	c.(1354-1356)Gcc>Acc	p.A452T	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A452T|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	452	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.A452T(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCCCCGGCGTT	0.677																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NaN																	2	Substitution - Missense(2)		biliary_tract(2)	ovary(2)|skin(2)	4						c.(1354-1356)GCC>ACC		protocadherin alpha 7 isoform 1 precursor							64.0	68.0	66.0					5																	140215322		2203	4298	6501	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215322G>A	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1354G>A	5.37:g.140215322G>A	ENSP00000436426:p.Ala452Thr					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.A452T	p.A452T	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1354	+			452			Cadherin 4.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.1354G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109955	0.37242	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.02682	4.2;4.2	4.0	4.0	0.46444	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.31519	U	0.007517	T	0.09468	0.0233	M	0.69185	2.1	0.22081	N	0.999376	D;P	0.63880	0.993;0.949	P;P	0.53224	0.721;0.572	T	0.03231	-1.1058	10	0.54805	T	0.06	.	16.5501	0.84470	0.0:0.0:1.0:0.0	.	452;452	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	T	452	ENSP00000436426:A452T;ENSP00000367365:A452T	ENSP00000367365:A452T	A	+	1	0	PCDHA7	140195506	0.000000	0.05858	0.271000	0.24616	0.033000	0.12548	0.057000	0.14279	1.951000	0.56629	0.298000	0.19748	GCC		0.677	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2		NM_018910		50	99	0	0	0	0.000781405	0	50	99		
PCDHA7	56141	broad.mit.edu	37	5	140215822	140215822	+	Silent	SNP	G	G	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr5:140215822G>C	ENST00000525929.1	+	1	1854	c.1854G>C	c.(1852-1854)gcG>gcC	p.A618A	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.A618A|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCCGGTGCGAGCATCCCGT	0.637																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2		NaN																	0				ovary(2)|skin(2)	4						c.(1852-1854)GCG>GCC		protocadherin alpha 7 isoform 1 precursor							108.0	106.0	106.0					5																	140215822		2203	4300	6503	SO:0001819	synonymous_variant	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140215822G>C	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1854G>C	5.37:g.140215822G>C						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Silent_p.A618A	p.A618A	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1854	+			618			Cadherin 6.|Extracellular (Potential).		O75282	Silent	SNP	ENST00000525929.1	37	c.1854G>C	CCDS54918.1																																																																																				0.637	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2		NM_018910		41	92	0	0	0	0.000589545	0	41	92		
PCDHGB6	56100	broad.mit.edu	37	5	140787909	140787909	+	Missense_Mutation	SNP	T	T	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr5:140787909T>A	ENST00000520790.1	+	1	140	c.140T>A	c.(139-141)gTg>gAg	p.V47E	PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	47	Cadherin 1. {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)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTCGGTGGTGGGGAACCTC	0.612																																						uc003lkj.1		NaN																	0					0						c.(139-141)GTG>GAG		protocadherin gamma subfamily B, 6 isoform 1							52.0	57.0	55.0					5																	140787909		1960	4143	6103	SO:0001583	missense	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140787909T>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.140T>A	5.37:g.140787909T>A	ENSP00000428603:p.Val47Glu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Missense_Mutation_p.V47E	p.V47E	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	140	+			47			Extracellular (Potential).|Cadherin 1.		Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.140T>A	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	t	26.5	4.741183	0.89573	.	.	ENSG00000253305	ENST00000520790	T	0.55234	0.53	5.38	5.38	0.77491	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	D	0.84674	0.5524	H	0.99368	4.535	0.39713	D	0.971359	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92074	0.5667	9	0.87932	D	0	.	15.393	0.74760	0.0:0.0:0.0:1.0	.	47;47	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	E	47	ENSP00000428603:V47E	ENSP00000428603:V47E	V	+	2	0	PCDHGB6	140768093	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.033000	0.88852	2.036000	0.60181	0.383000	0.25322	GTG		0.612	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1		NM_018926		20	55	0	0	0	0.000132079	0	20	55		
DBN1	1627	broad.mit.edu	37	5	176885084	176885084	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr5:176885084T>C	ENST00000309007.5	-	12	1970	c.1751A>G	c.(1750-1752)gAg>gGg	p.E584G	DBN1_ENST00000393565.1_Missense_Mutation_p.E630G|DBN1_ENST00000512501.1_Missense_Mutation_p.E316G|DBN1_ENST00000292385.5_Missense_Mutation_p.E586G|DBN1_ENST00000393563.4_Missense_Mutation_p.E316G	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	584					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGGTGGTCTCGCCATTGGT	0.682																																						uc003mgy.2		NaN																	0				breast(3)|ovary(1)|lung(1)|skin(1)	6						c.(1750-1752)GAG>GGG		drebrin 1 isoform a							53.0	58.0	56.0					5																	176885084		2192	4271	6463	SO:0001583	missense	1627				actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding	g.chr5:176885084T>C		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1751A>G	5.37:g.176885084T>C	ENSP00000308532:p.Glu584Gly					DBN1_uc011dga.1_Missense_Mutation_p.E316G|DBN1_uc003mgx.2_Missense_Mutation_p.E586G|DBN1_uc010jkn.1_Missense_Mutation_p.E534G|DBN1_uc003mgz.1_Missense_Mutation_p.E567G	p.E584G	NM_004395	NP_004386	Q16643	DREB_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		12	1923	-	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	584					A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	37	c.1751A>G	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.915688	0.73098	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000512501;ENST00000393563	D;D;D;T;D	0.95690	-3.78;-3.78;-3.78;0.41;-3.78	4.71	4.71	0.59529	.	0.238443	0.41712	D	0.000823	D	0.95430	0.8516	L	0.27053	0.805	0.54753	D	0.999982	D;D;D;D	0.76494	0.999;0.996;0.999;0.999	D;D;D;D	0.77557	0.99;0.941;0.976;0.99	D	0.96064	0.9041	10	0.87932	D	0	-22.357	13.5856	0.61928	0.0:0.0:0.0:1.0	.	534;630;584;586	B3KSQ7;A8MV58;Q16643;Q16643-2	.;.;DREB_HUMAN;.	G	584;586;630;316;316	ENSP00000308532:E584G;ENSP00000292385:E586G;ENSP00000377195:E630G;ENSP00000423208:E316G;ENSP00000377193:E316G	ENSP00000292385:E586G	E	-	2	0	DBN1	176817690	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.906000	0.63293	2.115000	0.64714	0.379000	0.24179	GAG		0.682	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2		NM_080881		31	88	0	0	0	0.000339439	0	31	88		
HIVEP1	3096	broad.mit.edu	37	6	12124529	12124529	+	Missense_Mutation	SNP	A	A	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:12124529A>C	ENST00000379388.2	+	4	4833	c.4501A>C	c.(4501-4503)Acc>Ccc	p.T1501P	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1501					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTCCAGCTCTACCAACGTTTT	0.438																																						uc003nac.2		NaN																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(4501-4503)ACC>CCC		human immunodeficiency virus type I enhancer							99.0	95.0	96.0					6																	12124529		1947	4151	6098	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12124529A>C	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.4501A>C	6.37:g.12124529A>C	ENSP00000368698:p.Thr1501Pro					HIVEP1_uc011diq.1_RNA	p.T1501P	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	4680	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1501					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.4501A>C	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	A	11.33	1.606194	0.28623	.	.	ENSG00000095951	ENST00000379388	T	0.09445	2.98	6.08	-7.04	0.01578	.	0.211164	0.24022	N	0.042263	T	0.01870	0.0059	L	0.43701	1.375	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.42932	-0.9422	9	.	.	.	-0.6953	7.5514	0.27800	0.1418:0.2897:0.4788:0.0896	.	1501	P15822	ZEP1_HUMAN	P	1501	ENSP00000368698:T1501P	.	T	+	1	0	HIVEP1	12232515	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.154000	0.03166	-1.367000	0.02152	0.482000	0.46254	ACC		0.438	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114		27	40	0	0	0	0.00106085	0	27	40		
HIST1H2BG	8339	broad.mit.edu	37	6	26216573	26216573	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:26216573C>T	ENST00000244601.3	-	1	299	c.299G>A	c.(298-300)cGt>cAt	p.R100H	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	100					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)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				AAGCAGCAGACGCACGGCGGT	0.567																																						uc003ngz.2		NaN																	0				ovary(1)	1						c.(298-300)CGT>CAT		histone cluster 1, H2bg							93.0	94.0	94.0					6																	26216573		2203	4300	6503	SO:0001583	missense	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216573C>T	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.299G>A	6.37:g.26216573C>T	ENSP00000244601:p.Arg100His					HIST1H2AE_uc003nha.1_5'Flank	p.R100H	NM_003518	NP_003509	P62807	H2B1C_HUMAN			1	300	-		all_hematologic(11;0.196)	100					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	37	c.299G>A	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	13.32	2.201517	0.38905	.	.	ENSG00000187990	ENST00000244601	T	0.52526	0.66	3.89	3.89	0.44902	.	0.000000	0.29987	U	0.010700	T	0.54759	0.1878	.	.	.	0.39128	D	0.961792	.	.	.	.	.	.	T	0.62358	-0.6871	7	0.72032	D	0.01	.	15.3699	0.74554	0.0:1.0:0.0:0.0	.	.	.	.	H	100	ENSP00000244601:R100H	ENSP00000244601:R100H	R	-	2	0	HIST1H2BG	26324552	1.000000	0.71417	0.999000	0.59377	0.034000	0.12701	7.499000	0.81566	2.172000	0.68678	0.561000	0.74099	CGT		0.567	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2		NM_003518		26	148	0	0	0	0.000878237	0	26	148		
HLA-F	3134	broad.mit.edu	37	6	29694776	29694776	+	IGR	SNP	C	C	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:29694776C>A	ENST00000376861.1	+	0	1544				HLA-F_ENST00000259951.7_Silent_p.R385R|HLA-F_ENST00000440587.2_Silent_p.R256R|HLA-F_ENST00000475996.1_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CTTGGGCCGCCGGAAGGTGGG	0.512																																						uc003nno.3		NaN																	0					0						c.(1153-1155)CGG>AGG		major histocompatibility complex, class I, F							158.0	184.0	175.0					6																	29694776		1412	2647	4059	SO:0001628	intergenic_variant	3134				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29694776C>A	AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156		6.37:g.29694776C>A						HLA-F_uc011dlx.1_Silent_p.R385R|HLA-F_uc011dly.1_RNA|LOC285830_uc003nnp.2_RNA|LOC285830_uc011dlz.1_RNA	p.R385R	NM_001098479	NP_001091949	P30511	HLAF_HUMAN			7	1277	+			Error:Variant_position_missing_in_P30511_after_alignment					Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Silent	SNP	ENST00000376861.1	37	c.1153C>A	CCDS43438.1																																																																																				0.512	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195083.1		NM_018950		21	244	1	0	1.50039e-11	0.000229342	1.48789e-10	21	244		
HLA-C	3107	broad.mit.edu	37	6	31239532	31239532	+	Missense_Mutation	SNP	C	C	T	rs281860364		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:31239532C>T	ENST00000376228.5	-	2	201	c.187G>A	c.(187-189)Gac>Aac	p.D63N	HLA-C_ENST00000383329.3_Missense_Mutation_p.D63N	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	63	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CTCGCGGCGTCGCTGTCGAAC	0.687																																						uc003nsy.2		NaN																	0					0						c.(187-189)GAC>AAC		major histocompatibility complex, class I, C							40.0	40.0	40.0					6																	31239532		1511	2707	4218	SO:0001583	missense	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31239532C>T	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.187G>A	6.37:g.31239532C>T	ENSP00000365402:p.Asp63Asn					HLA-C_uc011dnj.1_Missense_Mutation_p.D35N|HLA-C_uc003nsx.2_5'UTR|HLA-C_uc003nsz.2_Missense_Mutation_p.D63N|HLA-C_uc010jsl.2_Missense_Mutation_p.D63N|HLA-C_uc003nta.2_Missense_Mutation_p.D63N|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_5'UTR|HLA-B_uc003ntf.2_Intron	p.D63N	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN			2	194	-			63			Extracellular (Potential).|Alpha-1.		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	c.187G>A	CCDS34393.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	-|-	14.57|14.57	2.575043|2.575043	0.45902|0.45902	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307|ENST00000415537	T;T|.	0.00824|.	5.65;5.65|.	2.81|2.81	2.81|2.81	0.32909|0.32909	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	1.355990|.	0.05646|.	U|.	0.584331|.	T|T	0.47432|0.47432	0.1445|0.1445	M|M	0.83483|0.83483	2.645|2.645	0.26875|0.26875	N|N	0.967667|0.967667	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.997;0.997;0.997;0.998|.	T|T	0.34502|0.34502	-0.9826|-0.9826	10|5	0.87932|.	D|.	0|.	.|.	9.2778|9.2778	0.37709|0.37709	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	63;63;63;63|.	A2AEA4;A6H578;A2AEA2;P10321|.	.;.;.;1C07_HUMAN|.	N|Q	63;63;63;100|62	ENSP00000365402:D63N;ENSP00000372819:D63N|.	ENSP00000365402:D63N|.	D|R	-|-	1|2	0|0	HLA-C|HLA-C	31347511|31347511	0.018000|0.018000	0.18449|0.18449	0.998000|0.998000	0.56505|0.56505	0.365000|0.365000	0.29674|0.29674	-0.159000|-0.159000	0.10056|0.10056	1.886000|1.886000	0.54624|0.54624	0.305000|0.305000	0.20034|0.20034	GAC|CGA		0.687	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3		NM_002117		63	50	0	0	0	0.000781405	0	63	50		
HSPA1A	3303	broad.mit.edu	37	6	31785219	31785219	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:31785219C>T	ENST00000375651.5	+	1	1929	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	HSPA1L_ENST00000417199.3_5'Flank|HSPA1A_ENST00000608703.1_Silent_p.I397I|HSPA1A_ENST00000458062.2_Silent_p.I471I|HSPA1L_ENST00000375654.4_5'Flank	NM_005345.5	NP_005336.3	P08107	HSP71_HUMAN	heat shock 70kDa protein 1A	562					ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			endometrium(1)|ovary(1)|stomach(1)	3						AGGGCAAGATCAGCGAGGCGG	0.587																																						uc003nxj.2		NaN																	0				ovary(1)	1						c.(1684-1686)ATC>ATT		heat shock 70kDa protein 1A							84.0	50.0	61.0					6																	31785219		1883	3920	5803	SO:0001819	synonymous_variant	3303				anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding	g.chr6:31785219C>T	BC002453	CCDS34414.1	6p21.3	2012-10-02	2002-08-29		ENSG00000204389	ENSG00000204389		"""Heat shock proteins / HSP70"""	5232	protein-coding gene	gene with protein product		140550	"""heat shock 70kD protein 1A"""	HSPA1			Standard	NM_005345		Approved	HSP70-1	uc003nxj.3	P08107	OTTHUMG00000031201	ENST00000375651.5:c.1686C>T	6.37:g.31785219C>T						HSPA1L_uc003nxh.2_5'Flank|HSPA1L_uc010jte.2_5'Flank|HSPA1A_uc011doj.1_Silent_p.I325I|HSPA1A_uc003nxi.1_Silent_p.I397I|uc011dok.1_RNA	p.I562I	NM_005345	NP_005336	P08107	HSP71_HUMAN			1	1929	+			562					B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Silent	SNP	ENST00000375651.5	37	c.1686C>T	CCDS34414.1																																																																																				0.587	HSPA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076401.2				53	64	0	0	0	0.000781405	0	53	64		
EPHA7	2045	broad.mit.edu	37	6	93955099	93955099	+	Silent	SNP	T	T	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:93955099T>C	ENST00000369303.4	-	16	2983	c.2799A>G	c.(2797-2799)caA>caG	p.Q933Q		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	933	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TCTTAATAGCTTGTAGCCATT	0.378																																						uc003poe.2		NaN																	0				lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(2797-2799)CAA>CAG		ephrin receptor EphA7 precursor							92.0	99.0	97.0					6																	93955099		2203	4300	6503	SO:0001819	synonymous_variant	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93955099T>C	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2799A>G	6.37:g.93955099T>C						EPHA7_uc003pof.2_Silent_p.Q928Q|EPHA7_uc011eac.1_Silent_p.Q929Q	p.Q933Q	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	16	3040	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	933			Cytoplasmic (Potential).|SAM.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Silent	SNP	ENST00000369303.4	37	c.2799A>G	CCDS5031.1																																																																																				0.378	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1				29	78	0	0	0	0.000227799	0	29	78		
HACE1	57531	broad.mit.edu	37	6	105225170	105225170	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr6:105225170C>T	ENST00000262903.4	-	15	1865	c.1589G>A	c.(1588-1590)tGg>tAg	p.W530*	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Intron	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	530					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTCATAGAACCATTCACAGCG	0.373																																						uc003pqu.1		NaN																	0				ovary(5)|lung(2)	7						c.(1588-1590)TGG>TAG		HECT domain and ankyrin repeat containing, E3							108.0	110.0	109.0					6																	105225170		2203	4300	6503	SO:0001587	stop_gained	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105225170C>T	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1589G>A	6.37:g.105225170C>T	ENSP00000262903:p.Trp530*					HACE1_uc010kcy.1_Nonsense_Mutation_p.W12*|HACE1_uc010kcz.1_Intron|HACE1_uc010kcx.1_5'UTR|HACE1_uc003pqt.1_Nonsense_Mutation_p.W183*	p.W530*	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	15	1866	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	530					A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Nonsense_Mutation	SNP	ENST00000262903.4	37	c.1589G>A	CCDS5050.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.024692|6.024692	0.97211|0.97211	.|.	.|.	ENSG00000085382|ENSG00000085382	ENST00000518503|ENST00000262903	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.38401|.	0.1039|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.35276|.	-0.9795|.	4|.	.|0.07030	.|T	.|0.85	.|.	19.3203|19.3203	0.94236|0.94236	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	I|X	12|530	.|.	.|ENSP00000262903:W530X	M|W	-|-	3|2	0|0	HACE1|HACE1	105331863|105331863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.431000|7.431000	0.80335|0.80335	2.555000|2.555000	0.86185|0.86185	0.650000|0.650000	0.86243|0.86243	ATG|TGG		0.373	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2		XM_045095		48	99	0	0	0	0.000781405	0	48	99		
CREB5	9586	broad.mit.edu	37	7	28843821	28843821	+	Silent	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr7:28843821G>A	ENST00000357727.2	+	8	1098	c.708G>A	c.(706-708)ttG>ttA	p.L236L	CREB5_ENST00000396299.2_Silent_p.L203L|CREB5_ENST00000396298.2_Silent_p.L97L|CREB5_ENST00000396300.2_Silent_p.L229L|CREB5_ENST00000409603.1_Silent_p.L203L	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	236					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TTCAGAGGTTGAAGGCTGCAT	0.458																																						uc003szq.2		NaN																	0				skin(2)	2						c.(706-708)TTG>TTA		cAMP responsive element binding protein 5							147.0	124.0	132.0					7																	28843821		2203	4300	6503	SO:0001819	synonymous_variant	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28843821G>A	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.708G>A	7.37:g.28843821G>A						CREB5_uc003szo.2_Silent_p.L203L|CREB5_uc003szr.2_Silent_p.L229L|CREB5_uc003szs.2_Silent_p.L97L	p.L236L	NM_182898	NP_878901	Q02930	CREB5_HUMAN			8	1098	+			236					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Silent	SNP	ENST00000357727.2	37	c.708G>A	CCDS5417.1																																																																																				0.458	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4		NM_004904		33	43	0	0	0	0.00058488	0	33	43		
ASB4	51666	broad.mit.edu	37	7	95157438	95157438	+	Silent	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr7:95157438C>T	ENST00000325885.5	+	3	872	c.801C>T	c.(799-801)ctC>ctT	p.L267L	ASB4_ENST00000428113.1_Silent_p.L267L	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	267					intracellular signal transduction (GO:0035556)|positive regulation of vasculogenesis (GO:2001214)|protein autoubiquitination (GO:0051865)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			ACCACGTGCTCATGCACATGA	0.562											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc011kij.1		NaN																	0				central_nervous_system(1)	1						c.(799-801)CTC>CTT		ankyrin repeat and SOCS box-containing protein 4							82.0	66.0	72.0					7																	95157438		2203	4300	6503	SO:0001819	synonymous_variant	51666				intracellular signal transduction			g.chr7:95157438C>T	AF156779	CCDS5641.1, CCDS5642.1	7q21-q22	2013-01-10	2011-01-25		ENSG00000005981	ENSG00000005981		"""Ankyrin repeat domain containing"""	16009	protein-coding gene	gene with protein product		605761	"""ankyrin repeat and SOCS box-containing 4"""				Standard	NM_145872		Approved	ASB-4	uc011kij.2	Q9Y574	OTTHUMG00000153960	ENST00000325885.5:c.801C>T	7.37:g.95157438C>T			OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1310	ASB4_uc003unx.2_Silent_p.L267L	p.L267L	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	STAD - Stomach adenocarcinoma(171;0.0151)		3	801	+	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		267			ANK 6.		A4D1H6|O14586|Q14D68|Q8TBT2	Silent	SNP	ENST00000325885.5	37	c.801C>T	CCDS5641.1																																																																																				0.562	ASB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333225.2		NM_016116		22	42	0	0	0	0.000175454	0	22	42		
DOCK4	9732	broad.mit.edu	37	7	111422965	111422965	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr7:111422965C>T	ENST00000437633.1	-	34	3769	c.3513G>A	c.(3511-3513)atG>atA	p.M1171I	DOCK4_ENST00000494651.2_Missense_Mutation_p.M54I|DOCK4_ENST00000428084.1_Missense_Mutation_p.M1180I	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1171					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTACCTCTCCCATTTTCATGC	0.383																																						uc003vfx.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.(3511-3513)ATG>ATA		dedicator of cytokinesis 4							162.0	159.0	160.0					7																	111422965		1846	4078	5924	SO:0001583	missense	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111422965C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3513G>A	7.37:g.111422965C>T	ENSP00000404179:p.Met1171Ile					DOCK4_uc011kml.1_Missense_Mutation_p.M52I|DOCK4_uc011kmm.1_Missense_Mutation_p.M78I|DOCK4_uc003vfw.2_Missense_Mutation_p.M621I|DOCK4_uc003vfy.2_Missense_Mutation_p.M1216I	p.M1171I	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			34	3782	-		Acute lymphoblastic leukemia(1;0.0441)	1171			DHR-2.		O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	c.3513G>A	CCDS47688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.645|9.645	1.140030|1.140030	0.21205|0.21205	.|.	.|.	ENSG00000128512|ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000494651;ENST00000437633;ENST00000342288;ENST00000437129;ENST00000450156;ENST00000417165|ENST00000423057;ENST00000445943	T;T;T;T;T;T|.	0.40225|.	2.04;1.04;2.04;2.04;2.04;2.04|.	5.42|5.42	3.56|3.56	0.40772|0.40772	.|.	0.138305|.	0.64402|.	N|.	0.000003|.	T|.	0.21921|.	0.0528|.	N|N	0.02011|0.02011	-0.69|-0.69	0.36627|0.36627	D|D	0.876082|0.876082	B;B;B;B;B|.	0.06786|.	0.001;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.06405|.	0.001;0.001;0.002;0.002;0.002|.	T|.	0.19031|.	-1.0318|.	10|.	0.30854|.	T|.	0.27|.	.|.	10.8985|10.8985	0.47036|0.47036	0.0:0.8452:0.0:0.1548|0.0:0.8452:0.0:0.1548	.|.	78;54;1216;1171;1180|.	B7Z2K9;F5GXW1;Q149N5;Q8N1I0;Q8N1I0-2|.	.;.;.;DOCK4_HUMAN;.|.	I|X	1159;1180;54;1171;1168;45;54;78|632;1204	ENSP00000410746:M1180I;ENSP00000440944:M54I;ENSP00000404179:M1171I;ENSP00000406298:M45I;ENSP00000406468:M54I;ENSP00000403504:M78I|.	ENSP00000345432:M1168I|.	M|W	-|-	3|2	0|0	DOCK4|DOCK4	111210201|111210201	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.091000|2.091000	0.41691|0.41691	1.387000|1.387000	0.46486|0.46486	0.557000|0.557000	0.71058|0.71058	ATG|TGG		0.383	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4		NM_014705		41	108	0	0	0	0.000509022	0	41	108		
TGS1	96764	broad.mit.edu	37	8	56711557	56711557	+	Missense_Mutation	SNP	G	G	A			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr8:56711557G>A	ENST00000260129.5	+	8	2104	c.1627G>A	c.(1627-1629)Gct>Act	p.A543T		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	543					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TGTGCACGACGCTTCCACAAG	0.388																																					Esophageal Squamous(34;275 823 4842 34837 48447)	uc003xsj.3		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(1627-1629)GCT>ACT		trimethylguanosine synthase homolog							125.0	107.0	113.0					8																	56711557		2203	4300	6503	SO:0001583	missense	96764				cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity	g.chr8:56711557G>A	AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.1627G>A	8.37:g.56711557G>A	ENSP00000260129:p.Ala543Thr					TGS1_uc010lyh.2_Missense_Mutation_p.A447T	p.A543T	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Epithelial(17;0.00027)|all cancers(17;0.00251)		8	2014	+		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	543					A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	ENST00000260129.5	37	c.1627G>A	CCDS34894.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.657615	0.00779	.	.	ENSG00000137574	ENST00000260129	T	0.42513	0.97	5.73	0.618	0.17624	.	0.864106	0.10465	N	0.671464	T	0.06917	0.0176	N	0.00085	-2.2	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.35201	-0.9798	10	0.02654	T	1	-4.238	3.7088	0.08411	0.4111:0.0:0.3046:0.2842	.	543;543	B2RBJ7;Q96RS0	.;TGS1_HUMAN	T	543	ENSP00000260129:A543T	ENSP00000260129:A543T	A	+	1	0	TGS1	56874111	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	0.233000	0.17911	-0.104000	0.12154	-0.247000	0.11927	GCT		0.388	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378152.1		NM_024831		23	48	0	0	0	0.00047179	0	23	48		
MCMDC2	157777	broad.mit.edu	37	8	67786681	67786681	+	Missense_Mutation	SNP	T	T	C			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr8:67786681T>C	ENST00000422365.2	+	3	386	c.215T>C	c.(214-216)gTc>gCc	p.V72A	MCMDC2_ENST00000469823.1_3'UTR|MCMDC2_ENST00000396592.3_Missense_Mutation_p.V72A|MCMDC2_ENST00000492775.1_Missense_Mutation_p.V72A|MCMDC2_ENST00000541540.1_Intron|MCMDC2_ENST00000313616.5_Missense_Mutation_p.V72A	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	72					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						GCTGCTGAAGTCTTTCAATCA	0.303																																						uc003xwz.3		NaN																	0				ovary(1)	1						c.(214-216)GTC>GCC		minichromosome maintenance complex							88.0	88.0	88.0					8																	67786681		2202	4296	6498	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67786681T>C	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.215T>C	8.37:g.67786681T>C	ENSP00000413632:p.Val72Ala					C8orf45_uc003xwv.2_Missense_Mutation_p.V72A|C8orf45_uc011lev.1_Missense_Mutation_p.V72A|C8orf45_uc011lew.1_Intron|C8orf45_uc011lex.1_5'UTR|C8orf45_uc003xwy.3_Missense_Mutation_p.V72A	p.V72A	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)		3	386	+	Breast(64;0.186)		72					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.215T>C	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	T	15.32	2.798698	0.50208	.	.	ENSG00000178460	ENST00000396592;ENST00000422365;ENST00000492775;ENST00000313616	T;T;T;T	0.03951	3.75;3.75;3.75;3.75	4.4	4.4	0.53042	.	0.366377	0.25119	N	0.032989	T	0.04588	0.0125	N	0.22421	0.69	0.80722	D	1	B;B;B	0.21606	0.01;0.01;0.058	B;B;B	0.18561	0.01;0.01;0.022	T	0.44019	-0.9355	10	0.44086	T	0.13	-11.3721	13.9182	0.63914	0.0:0.0:0.0:1.0	.	72;72;72	Q4G0Z9;B4DXX4;G3XAN3	CH045_HUMAN;.;.	A	72	ENSP00000379837:V72A;ENSP00000413632:V72A;ENSP00000428037:V72A;ENSP00000317234:V72A	ENSP00000317234:V72A	V	+	2	0	C8orf45	67949235	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.690000	0.68241	1.752000	0.51891	0.455000	0.32223	GTC		0.303	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1		NM_173518		28	61	0	0	0	0.000279167	0	28	61		
CDKN2B	1030	broad.mit.edu	37	9	22008871	22008871	+	Missense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr9:22008871C>G	ENST00000276925.6	-	1	491	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B_ENST00000380142.4_Missense_Mutation_p.E28Q|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B_ENST00000539462.1_Missense_Mutation_p.E28Q|CDKN2B-AS1_ENST00000582072.1_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	28					aging (GO:0007568)|cell cycle arrest (GO:0007050)|cellular response to extracellular stimulus (GO:0031668)|cellular response to nutrient (GO:0031670)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|liver development (GO:0001889)|megakaryocyte differentiation (GO:0030219)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to cytokine (GO:0034097)|response to organic cyclic compound (GO:0014070)|spleen development (GO:0048536)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CGCACCTTCTCCACTAGTCCC	0.716											OREG0019127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zpo.2		NaN																	2	Whole gene deletion(2)		lung(2)	lung(1)	1						c.(82-84)GAG>CAG		cyclin-dependent kinase inhibitor 2B isoform 1							12.0	13.0	13.0					9																	22008871		2196	4284	6480	SO:0001583	missense	1030	Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System			cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	g.chr9:22008871C>G	AB060808	CCDS6512.1, CCDS6513.1	9p21	2008-07-21			ENSG00000147883	ENSG00000147883			1788	protein-coding gene	gene with protein product		600431				8078588	Standard	NM_004936		Approved	P15, MTS2, INK4B, TP15, CDK4I, p15INK4b	uc003zpo.3	P42772	OTTHUMG00000019691	ENST00000276925.6:c.82G>C	9.37:g.22008871C>G	ENSP00000276925:p.Glu28Gln		OREG0019127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	752	MTAP_uc003zpi.1_Intron|CDKN2BAS_uc010miw.1_Intron|CDKN2BAS_uc010mix.1_Intron|CDKN2BAS_uc003zpm.2_Intron|CDKN2B_uc003zpn.2_Missense_Mutation_p.E28Q	p.E28Q	NM_004936	NP_004927	P42772	CDN2B_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)	1	442	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)	28			ANK 1; truncated.		O15125|Q6FI09	Missense_Mutation	SNP	ENST00000276925.6	37	c.82G>C	CCDS6512.1	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522725	0.64747	.	.	ENSG00000147883	ENST00000276925;ENST00000380142;ENST00000539462	T;T;T	0.80738	-1.41;1.42;1.42	5.86	4.95	0.65309	Ankyrin repeat-containing domain (3);	0.333543	0.30781	N	0.008888	T	0.81143	0.4761	L	0.49513	1.565	0.32358	N	0.557508	B;D	0.61080	0.13;0.989	B;P	0.52957	0.266;0.714	D	0.83857	0.0266	10	0.48119	T	0.1	-21.4222	11.2729	0.49150	0.0:0.9141:0.0:0.0859	.	28;28	P42772;O15125	CDN2B_HUMAN;.	Q	28	ENSP00000276925:E28Q;ENSP00000369487:E28Q;ENSP00000445136:E28Q	ENSP00000276925:E28Q	E	-	1	0	CDKN2B	21998871	0.592000	0.26832	1.000000	0.80357	0.971000	0.66376	0.732000	0.26072	2.775000	0.95449	0.650000	0.86243	GAG		0.716	CDKN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051932.2		NM_004936		9	16	0	0	0	0.000274275	0	9	16		
ASPN	54829	broad.mit.edu	37	9	95219645	95219645	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr9:95219645G>T	ENST00000375544.3	-	8	1311	c.1068C>A	c.(1066-1068)taC>taA	p.Y356*	CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_3'UTR	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	356					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GCATTTCCCAGTATTTCACCG	0.378																																						uc004ase.1		NaN																	0					0						c.(1066-1068)TAC>TAA		asporin precursor							120.0	116.0	117.0					9																	95219645		2203	4300	6503	SO:0001587	stop_gained	54829				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	g.chr9:95219645G>T	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.1068C>A	9.37:g.95219645G>T	ENSP00000364694:p.Tyr356*					CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_3'UTR	p.Y356*	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN			8	1312	-			356			LRR 10.		Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Nonsense_Mutation	SNP	ENST00000375544.3	37	c.1068C>A		.	.	.	.	.	.	.	.	.	.	G	31	5.082137	0.94050	.	.	ENSG00000106819	ENST00000375544	.	.	.	5.18	0.457	0.16661	.	0.121727	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1837	0.48644	0.2347:0.0:0.7653:0.0	.	.	.	.	X	356	.	ENSP00000364694:Y356X	Y	-	3	2	ASPN	94259466	1.000000	0.71417	0.981000	0.43875	0.888000	0.51559	4.579000	0.60936	-0.112000	0.11979	-0.274000	0.10170	TAC		0.378	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1		NM_017680		20	39	1	0	4.35082e-09	0.000175454	4.24383e-08	20	39		
STXBP1	6812	broad.mit.edu	37	9	130438119	130438119	+	Missense_Mutation	SNP	A	A	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr9:130438119A>T	ENST00000373299.1	+	14	1262	c.1147A>T	c.(1147-1149)Atc>Ttc	p.I383F	STXBP1_ENST00000373302.3_Missense_Mutation_p.I383F|STXBP1_ENST00000481942.1_3'UTR	NM_001032221.3	NP_001027392.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	383					axon target recognition (GO:0007412)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long term synaptic depression (GO:0060292)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|protein stabilization (GO:0050821)|protein transport (GO:0015031)|regulation of insulin secretion (GO:0050796)|regulation of SNARE complex assembly (GO:0035542)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|regulation of synaptic vesicle priming (GO:0010807)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|SNARE binding (GO:0000149)|syntaxin binding (GO:0019905)|syntaxin-1 binding (GO:0017075)			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						GGGAGAGAAGATCAAGGACCC	0.488																																						uc004brl.2		NaN																	0				skin(1)	1						c.(1147-1149)ATC>TTC		syntaxin binding protein 1 isoform b							144.0	106.0	119.0					9																	130438119		2203	4300	6503	SO:0001583	missense	6812				axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding	g.chr9:130438119A>T	AF004563	CCDS6874.1, CCDS35146.1	9q34.1	2008-07-21			ENSG00000136854	ENSG00000136854			11444	protein-coding gene	gene with protein product	"""syntaxin-binding protein 1"""	602926				9545644	Standard	NM_001032221		Approved	hUNC18, MUNC18-1, UNC18, rbSec1	uc004brk.2	P61764	OTTHUMG00000020713	ENST00000373299.1:c.1147A>T	9.37:g.130438119A>T	ENSP00000362396:p.Ile383Phe					STXBP1_uc004brk.2_Missense_Mutation_p.I383F	p.I383F	NM_001032221	NP_001027392	P61764	STXB1_HUMAN			14	1344	+			383					B1AM97|Q28208|Q62759|Q64320|Q96TG8	Missense_Mutation	SNP	ENST00000373299.1	37	c.1147A>T	CCDS35146.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.027083	0.93518	.	.	ENSG00000136854	ENST00000535154;ENST00000373302;ENST00000541198;ENST00000373299	T;T	0.80994	-1.44;-1.44	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.90721	0.7088	M	0.89840	3.065	0.80722	D	1	D;D	0.62365	0.985;0.991	D;D	0.67103	0.949;0.915	D	0.92472	0.5986	10	0.87932	D	0	-14.6628	14.0487	0.64722	1.0:0.0:0.0:0.0	.	383;383	P61764;P61764-2	STXB1_HUMAN;.	F	337;383;215;383	ENSP00000362399:I383F;ENSP00000362396:I383F	ENSP00000362396:I383F	I	+	1	0	STXBP1	129477940	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.184000	0.65070	2.254000	0.74563	0.533000	0.62120	ATC		0.488	STXBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054229.1		NM_003165		12	40	0	0	0	0.000151284	0	12	40		
CCBL1	883	broad.mit.edu	37	9	131600026	131600026	+	Missense_Mutation	SNP	C	C	T	rs572629163		TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr9:131600026C>T	ENST00000302586.3	-	6	667	c.505G>A	c.(505-507)Ggc>Agc	p.G169S	CCBL1_ENST00000320665.6_Missense_Mutation_p.G119S|CCBL1_ENST00000436267.2_Missense_Mutation_p.G263S|CCBL1_ENST00000483599.1_5'UTR	NM_001122671.1|NM_004059.4	NP_001116143.1|NP_004050.3	Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	169					cellular amino acid biosynthetic process (GO:0008652)|cellular modified amino acid metabolic process (GO:0006575)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine catabolic process (GO:0097053)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|glutamine-phenylpyruvate transaminase activity (GO:0047316)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-glutamine:pyruvate aminotransferase activity (GO:0047945)|L-phenylalanine-oxaloacetate transaminase activity (GO:0036141)|L-phenylalanine:pyruvate aminotransferase activity (GO:0047312)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)	GTGAATTTGCCGGCCAGCTCC	0.622													c|||	1	0.000199681	0.0	0.0014	5008	,	,		20004	0.0		0.0	False		,,,				2504	0.0					uc004bwh.2		NaN																	0				ovary(1)	1						c.(505-507)GGC>AGC		kynurenine aminotransferase I isoform a	L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)						78.0	83.0	82.0					9																	131600026		2049	4168	6217	SO:0001583	missense	883				kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr9:131600026C>T	Y17448	CCDS43884.1, CCDS48038.1, CCDS75915.1	9q34.11	2008-03-11	2008-03-11		ENSG00000171097	ENSG00000171097	2.6.1.64		1564	protein-coding gene	gene with protein product	"""glutamine transaminase K"", ""kyneurenine aminotransferase"""	600547	"""cysteine conjugate-beta lyase; cytoplasmic (glutamine transaminase K, kyneurenine aminotransferase)"""			7883047	Standard	NM_001122671		Approved	KATI, GTK	uc004bwh.3	Q16773	OTTHUMG00000020767	ENST00000302586.3:c.505G>A	9.37:g.131600026C>T	ENSP00000302227:p.Gly169Ser					CCBL1_uc004bwf.2_Missense_Mutation_p.G203S|CCBL1_uc004bwg.2_RNA|CCBL1_uc010myn.2_Missense_Mutation_p.G169S|CCBL1_uc004bwj.2_Missense_Mutation_p.G119S|CCBL1_uc011mbl.1_Missense_Mutation_p.G263S|CCBL1_uc004bwi.2_RNA|CCBL1_uc010myo.2_Intron	p.G169S	NM_004059	NP_004050	Q16773	KAT1_HUMAN			6	690	-			169					Q5T275|Q8N191	Missense_Mutation	SNP	ENST00000302586.3	37	c.505G>A	CCDS43884.1	.	.	.	.	.	.	.	.	.	.	c	4.010	-0.000702	0.07819	.	.	ENSG00000171097	ENST00000302586;ENST00000320665;ENST00000436267;ENST00000451800;ENST00000416084	D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6	5.36	4.22	0.49857	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.299263	0.39985	N	0.001217	T	0.59115	0.2170	N	0.00459	-1.475	0.23126	N	0.998255	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.57711	-0.7764	10	0.02654	T	1	-37.4672	5.1305	0.14907	0.1307:0.1649:0.0:0.7044	.	263;119;169;169	B7Z4W5;Q16773-2;Q16773;Q5T278	.;.;KAT1_HUMAN;.	S	169;119;263;169;169	ENSP00000302227:G169S;ENSP00000317342:G119S;ENSP00000399415:G263S;ENSP00000390377:G169S;ENSP00000412402:G169S	ENSP00000302227:G169S	G	-	1	0	CCBL1	130639847	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	1.309000	0.33539	0.335000	0.23614	-1.048000	0.02349	GGC		0.622	CCBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054521.2				13	127	0	0	0	0.000308642	0	13	127		
IQSEC2	23096	broad.mit.edu	37	X	53283763	53283763	+	Silent	SNP	A	A	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chrX:53283763A>G	ENST00000375368.5	-	3	1520	c.1320T>C	c.(1318-1320)tcT>tcC	p.S440S	IQSEC2_ENST00000396435.3_Silent_p.S450S|IQSEC2_ENST00000375365.2_Silent_p.S245S			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	440					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						AAAACTCTCCAGATGTGGTGA	0.572																																						uc004dsd.2		NaN																	0				ovary(3)	3						c.(1348-1350)TCT>TCC		IQ motif and Sec7 domain 2 isoform1							50.0	44.0	46.0					X																	53283763		2203	4300	6503	SO:0001819	synonymous_variant	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53283763A>G	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.1320T>C	X.37:g.53283763A>G						IQSEC2_uc004dsc.2_Silent_p.S245S	p.S450S	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN			4	1551	-			440					B3KT97|C7SDG1|O60275|Q5JUX1	Silent	SNP	ENST00000375368.5	37	c.1350T>C																																																																																					0.572	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding			XM_291345		27	30	0	0	0	0.000184323	0	27	30		
EFNB1	1947	broad.mit.edu	37	X	68060145	68060145	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chrX:68060145C>T	ENST00000204961.4	+	5	1469	c.689C>T	c.(688-690)cCt>cTt	p.P230L		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	230					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						AGCGGGGACCCTGATGGCTTC	0.582																																						uc004dxd.3		NaN																	0					0	GRCh37	CD084084	EFNB1	D		c.(688-690)CCT>CTT		ephrin-B1 precursor							57.0	58.0	58.0					X																	68060145		2203	4300	6503	SO:0001583	missense	1947				cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	g.chrX:68060145C>T	U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.689C>T	X.37:g.68060145C>T	ENSP00000204961:p.Pro230Leu					EFNB1_uc004dxe.2_Missense_Mutation_p.P230L	p.P230L	NM_004429	NP_004420	P98172	EFNB1_HUMAN			5	1469	+			230			Extracellular (Potential).		D3DVU0	Missense_Mutation	SNP	ENST00000204961.4	37	c.689C>T	CCDS14391.1	.	.	.	.	.	.	.	.	.	.	C	7.968	0.748464	0.15710	.	.	ENSG00000090776	ENST00000204961	D	0.90444	-2.67	5.16	5.16	0.70880	.	0.585252	0.18272	N	0.146289	D	0.82403	0.5029	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.68697	-0.5340	10	0.32370	T	0.25	-1.0562	8.4717	0.32988	0.0:0.8959:0.0:0.1041	.	230	P98172	EFNB1_HUMAN	L	230	ENSP00000204961:P230L	ENSP00000204961:P230L	P	+	2	0	EFNB1	67976870	0.660000	0.27420	0.214000	0.23707	0.937000	0.57800	-0.229000	0.09098	2.397000	0.81536	0.529000	0.55759	CCT		0.582	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057029.1		NM_004429		6	31	0	0	0	8.12818e-05	0	6	31		
SLC6A14	11254	broad.mit.edu	37	X	115584268	115584268	+	Missense_Mutation	SNP	C	C	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chrX:115584268C>T	ENST00000371900.4	+	9	1334	c.1246C>T	c.(1246-1248)Ctt>Ttt	p.L416F		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	416					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TTTTTTCATGCTTTTAACTTT	0.378																																						uc004eqi.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(1246-1248)CTT>TTT		solute carrier family 6 (amino acid	L-Proline(DB00172)						182.0	155.0	164.0					X																	115584268		2203	4300	6503	SO:0001583	missense	11254				cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chrX:115584268C>T	AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.1246C>T	X.37:g.115584268C>T	ENSP00000360967:p.Leu416Phe						p.L416F	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN			9	1350	+			416			Helical; Name=8; (Potential).		Q5H942	Missense_Mutation	SNP	ENST00000371900.4	37	c.1246C>T	CCDS14570.1	.	.	.	.	.	.	.	.	.	.	c	21.1	4.091322	0.76756	.	.	ENSG00000087916	ENST00000371900	D	0.82803	-1.65	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.88991	0.6588	M	0.78344	2.41	0.52501	D	0.999954	D	0.69078	0.997	P	0.62813	0.907	D	0.89754	0.3942	10	0.72032	D	0.01	.	9.8024	0.40773	0.0:0.9054:0.0:0.0946	.	416	Q9UN76	S6A14_HUMAN	F	416	ENSP00000360967:L416F	ENSP00000360967:L416F	L	+	1	0	SLC6A14	115498296	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.592000	0.61027	2.433000	0.82419	0.591000	0.81541	CTT		0.378	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057986.1				26	11	0	0	0	0.000720815	0	26	11		
LONRF3	79836	broad.mit.edu	37	X	118109240	118109240	+	Nonsense_Mutation	SNP	C	C	G			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chrX:118109240C>G	ENST00000371628.3	+	1	528	c.497C>G	c.(496-498)tCa>tGa	p.S166*	LONRF3_ENST00000304778.7_Nonsense_Mutation_p.S166*|LONRF3_ENST00000422289.2_5'Flank	NM_001031855.1	NP_001027026.1	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	166							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GGGTTTCTATCAGACCCCGTG	0.672																																						uc004eqw.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(496-498)TCA>TGA		LON peptidase N-terminal domain and ring finger							25.0	18.0	20.0					X																	118109240		2184	4219	6403	SO:0001587	stop_gained	79836				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding	g.chrX:118109240C>G	AK026265	CCDS14575.1, CCDS35374.1, CCDS76014.1	Xq24	2013-01-09	2005-08-19	2005-08-19	ENSG00000175556	ENSG00000175556		"""RING-type (C3HC4) zinc fingers"""	21152	protein-coding gene	gene with protein product			"""ring finger protein 127"""	RNF127			Standard	XM_005262476		Approved	FLJ22612	uc004eqw.3	Q496Y0	OTTHUMG00000022262	ENST00000371628.3:c.497C>G	X.37:g.118109240C>G	ENSP00000360690:p.Ser166*					LONRF3_uc004eqx.2_Nonsense_Mutation_p.S166*|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_5'Flank	p.S166*	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN			1	528	+			166			RING-type 1.		Q5JPN6|Q8NB00|Q9H647	Nonsense_Mutation	SNP	ENST00000371628.3	37	c.497C>G	CCDS35374.1	.	.	.	.	.	.	.	.	.	.	C	38	6.647433	0.97730	.	.	ENSG00000175556	ENST00000365713;ENST00000304778;ENST00000371628	.	.	.	4.7	3.83	0.44106	.	0.272209	0.29980	N	0.010712	.	.	.	.	.	.	0.52099	D	0.999947	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	-7.522	3.8087	0.08788	0.0:0.5803:0.2157:0.204	.	.	.	.	X	166	.	ENSP00000307732:S166X	S	+	2	0	LONRF3	117993268	0.074000	0.21230	0.053000	0.19242	0.703000	0.40648	0.399000	0.20916	0.970000	0.38263	0.529000	0.55759	TCA		0.672	LONRF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355124.2		NM_024778		21	6	0	0	0	0.00047179	0	21	6		
ARID1A	8289	broad.mit.edu	37	1	27102153	27102153	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr1:27102153delC	ENST00000324856.7	+	19	5450	c.5079delC	c.(5077-5079)atcfs	p.I1693fs	ARID1A_ENST00000540690.1_Frame_Shift_Del_p.I21fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.I1476fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.I1310fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1693					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCATCAACATCCTGCTGTATG	0.498			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NaN		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(5077-5079)ATCfs		AT rich interactive domain 1A isoform a							154.0	122.0	133.0					1																	27102153		2203	4300	6503	SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27102153delC	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5079delC	1.37:g.27102153delC	ENSP00000320485:p.Ile1693fs					ARID1A_uc001bmt.1_Frame_Shift_Del_p.I1692fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.I1476fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.I539fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.I21fs|ARID1A_uc009vsn.1_5'UTR	p.I1693fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	19	5452	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1693					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.5079delC	CCDS285.1																																																																																				0.498	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135		27	59	NaN	NaN	NaN	NaN	NaN	27	59	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76481915	76481915	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr16:76481915delA	ENST00000476707.1	+	4	693	c.554delA	c.(553-555)gaafs	p.E185fs	CNTNAP4_ENST00000377504.4_Frame_Shift_Del_p.E181fs|CNTNAP4_ENST00000307431.8_Frame_Shift_Del_p.E181fs|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Frame_Shift_Del_p.E157fs			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	182					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTAGGATCAGAAGTGGTTGAT	0.308																																						uc002feu.1		NaN																	0				ovary(1)|pancreas(1)	2						c.(544-546)GAAfs		cell recognition protein CASPR4 isoform 1							62.0	63.0	63.0					16																	76481915		2198	4300	6498	SO:0001589	frameshift_variant	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76481915delA	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.554delA	16.37:g.76481915delA	ENSP00000417628:p.Glu185fs					CNTNAP4_uc002fev.1_Frame_Shift_Del_p.E94fs|CNTNAP4_uc010chb.1_Frame_Shift_Del_p.E157fs|CNTNAP4_uc002fex.1_Frame_Shift_Del_p.E185fs|CNTNAP4_uc002few.2_Frame_Shift_Del_p.E157fs	p.E182fs	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			7	930	+			182			Extracellular (Potential).		E9PFZ6|Q86YZ7	Frame_Shift_Del	DEL	ENST00000476707.1	37	c.545delA																																																																																					0.308	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1		NM_033401		21	69	NaN	NaN	NaN	NaN	NaN	21	69	---	---
PTRF	284119	broad.mit.edu	37	17	40556948	40556949	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr17:40556948_40556949delGC	ENST00000357037.5	-	2	1348_1349	c.929_930delGC	c.(928-930)cgcfs	p.R310fs		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		CGGTCTTGGAGCGCGCGTACAC	0.649																																						uc002hzo.2		NaN																	0				breast(1)	1						c.(928-930)CGCfs		polymerase I and transcript release factor																																				SO:0001589	frameshift_variant	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40556948_40556949delGC	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.929_930delGC	17.37:g.40556952_40556953delGC	ENSP00000349541:p.Arg310fs					PTRF_uc010wgi.1_Frame_Shift_Del_p.R292fs	p.R310fs	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	2	1088_1089	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	310						Frame_Shift_Del	DEL	ENST00000357037.5	37	c.929_930delGC	CCDS11425.1																																																																																				0.649	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1		NM_012232		26	94	NaN	NaN	NaN	NaN	NaN	26	94	---	---
QPCT	25797	broad.mit.edu	37	2	37596833	37596834	+	Frame_Shift_Ins	INS	-	-	T			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr2:37596833_37596834insT	ENST00000338415.3	+	5	887_888	c.729_730insT	c.(730-732)ttgfs	p.L244fs	QPCT_ENST00000537448.1_Frame_Shift_Ins_p.L195fs	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	244					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CTCAGGATTTATTGGTCTTATT	0.366																																						uc002rqg.2		NaN																	0				central_nervous_system(1)	1						c.(727-732)TTATTGfs		glutaminyl-peptide cyclotransferase precursor																																				SO:0001589	frameshift_variant	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37596833_37596834insT	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.731dupT	2.37:g.37596835_37596835dupT	ENSP00000344829:p.Leu244fs					QPCT_uc002rqh.2_Frame_Shift_Ins_p.L194fs	p.L243fs	NM_012413	NP_036545	Q16769	QPCT_HUMAN			5	851_852	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	243_244					Q16770|Q3KRG6|Q53TR4	Frame_Shift_Ins	INS	ENST00000338415.3	37	c.729_730insT	CCDS1790.1																																																																																				0.366	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2				31	70	NaN	NaN	NaN	NaN	NaN	31	70	---	---
TLE4	7091	broad.mit.edu	37	9	82267521	82267521	+	Frame_Shift_Del	DEL	C	C	-			TCGA-H4-A2HO-01A-11D-A17V-08	TCGA-H4-A2HO-10A-01D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e327841-eef0-42dd-883e-7d5b5a0d3a93	ca6fa0fa-acad-4b0e-8fa7-33391d18e353	g.chr9:82267521delC	ENST00000376552.2	+	7	1422	c.404delC	c.(403-405)gccfs	p.A135fs	TLE4_ENST00000265284.6_Frame_Shift_Del_p.A110fs|TLE4_ENST00000376544.3_Frame_Shift_Del_p.A135fs|TLE4_ENST00000376537.4_Frame_Shift_Del_p.A135fs|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376520.4_Frame_Shift_Del_p.A135fs|TLE4_ENST00000455913.1_3'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	135	Gln-rich (Q domain).				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CAACTCCAGGCCCAGCATTTA	0.532																																						uc004ald.2		NaN																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(382-384)GCCfs		transducin-like enhancer protein 4							105.0	112.0	110.0					9																	82267521		2043	4183	6226	SO:0001589	frameshift_variant	7091							g.chr9:82267521delC	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.404delC	9.37:g.82267521delC	ENSP00000365735:p.Ala135fs					TLE4_uc004alc.2_Frame_Shift_Del_p.A135fs|TLE4_uc010mpr.2_Frame_Shift_Del_p.A14fs|TLE4_uc004ale.2_5'UTR|TLE4_uc011lsq.1_Frame_Shift_Del_p.A103fs|TLE4_uc010mps.2_Frame_Shift_Del_p.A128fs|TLE4_uc004alf.2_Frame_Shift_Del_p.A74fs	p.A128fs	NM_007005	NP_008936	O60756	BCE1_HUMAN			7	1232	+			Error:Variant_position_missing_in_O60756_after_alignment					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Frame_Shift_Del	DEL	ENST00000376552.2	37	c.383delC	CCDS43837.1																																																																																				0.532	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4		XM_212237		70	174	NaN	NaN	NaN	NaN	NaN	70	174	---	---
