#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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988	byFrequency	TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483																																						uc001auk.2		NA																	1	Substitution - Missense(1)		endometrium(1)		0						c.(250-252)TGC>TCC		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887606C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.251G>C	1.37:g.12887606C>G	ENSP00000439551:p.Cys84Ser						p.C84S	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			3	447	-			84						Missense_Mutation	SNP	ENST00000535591.1	37	c.251G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	8.676	0.903882	0.17760	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.18016	2.24;2.24	1.48	-0.635	0.11512	.	1.371720	0.04624	N	0.402516	T	0.15825	0.0381	L	0.54908	1.71	0.09310	N	1	P	0.44816	0.844	B	0.41764	0.366	T	0.23904	-1.0175	10	0.16896	T	0.51	.	3.692	0.08350	0.2835:0.4381:0.2784:0.0	rs58074988	84	O60813	PRA11_HUMAN	S	84;125;84	ENSP00000439551:C84S;ENSP00000391839:C84S	ENSP00000328783:C125S	C	-	2	0	PRAMEF11	12810193	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.358000	0.07641	-0.176000	0.10707	-1.934000	0.00508	TGC		0.483	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		6	194	0	0	0	0	6	194				
RSG1	79363	broad.mit.edu	37	1	16559457	16559457	+	Silent	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr1:16559457G>A	ENST00000375599.3	-	3	740	c.321C>T	c.(319-321)gtC>gtT	p.V107V		NM_030907.3	NP_112169.2	Q9BU20	RSG1_HUMAN	REM2 and RAB-like small GTPase 1	107	Small GTPase-like.				cellular protein localization (GO:0034613)|cilium assembly (GO:0042384)|exocytosis (GO:0006887)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle fusion (GO:0031338)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)	GTP binding (GO:0005525)			large_intestine(2)|lung(2)|pancreas(1)|prostate(1)	6						GAAACATGACGACACGGCTGC	0.577																																						uc001ayd.2		NA																	0					0						c.(319-321)GTC>GTT		hypothetical protein LOC79363							108.0	107.0	108.0					1																	16559457		2203	4300	6503	SO:0001819	synonymous_variant	79363				cellular protein localization|cilium assembly|exocytosis|protein transport|regulation of exocytosis|regulation of vesicle fusion|small GTPase mediated signal transduction	cilium|microtubule basal body	GTP binding	g.chr1:16559457G>A	BC008702	CCDS171.1	1p36.13	2014-02-21	2011-02-22	2011-02-22	ENSG00000132881	ENSG00000132881			28127	protein-coding gene	gene with protein product	"""Rem/Rab-Similar GTPase 1"""		"""chromosome 1 open reading frame 89"""	C1orf89		19767740	Standard	NM_030907		Approved	MGC10731	uc001ayd.3	Q9BU20	OTTHUMG00000002214	ENST00000375599.3:c.321C>T	1.37:g.16559457G>A							p.V107V	NM_030907	NP_112169	Q9BU20	RSG1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.2e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)	3	743	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	107			Small GTPase-like.		Q5TEV7	Silent	SNP	ENST00000375599.3	37	c.321C>T	CCDS171.1																																																																																				0.577	RSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006279.2	NM_030907		22	58	0	0	0	0	22	58				
AKR7L	246181	broad.mit.edu	37	1	19596120	19596120	+	RNA	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr1:19596120G>A	ENST00000429712.1	-	0	680				AKR7L_ENST00000420396.2_RNA			Q8NHP1	ARK74_HUMAN	aldo-keto reductase family 7-like							extracellular vesicular exosome (GO:0070062)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						CAAAGTGCCTGAGGCAGGGGA	0.602																																						uc010ocx.1		NA																	0					0						c.(559-561)CTC>CTT		aflatoxin B1 aldehyde reductase 3 isoform 1							82.0	84.0	83.0					1																	19596120		692	1591	2283			246181							g.chr1:19596120G>A			1p36.1-p35	2008-12-09			ENSG00000211454	ENSG00000211454			24056	protein-coding gene	gene with protein product		608478				12879023	Standard	NR_040288		Approved	AFAR3	uc021ohn.1	Q8NHP1	OTTHUMG00000002520		1.37:g.19596120G>A						AKR7L_uc010ocy.1_Intron	p.L187L	NM_201252	NP_957704					5	561	-								Q5U614	Silent	SNP	ENST00000429712.1	37	c.561C>T																																																																																					0.602	AKR7L-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000007163.3	NM_201252		20	42	0	0	0	0	20	42				
MAP3K6	9064	broad.mit.edu	37	1	27682188	27682188	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr1:27682188G>A	ENST00000493901.1	-	29	3999	c.3760C>T	c.(3760-3762)Cga>Tga	p.R1254*	MAP3K6_ENST00000374040.3_Nonsense_Mutation_p.R1246*|MAP3K6_ENST00000357582.2_Nonsense_Mutation_p.R1254*	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1254					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGGTCATCTCGAGTGGCATAG	0.527																																						uc001bny.1		NA																	0				breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9						c.(3760-3762)CGA>TGA		mitogen-activated protein kinase kinase kinase							151.0	139.0	143.0					1																	27682188		2203	4300	6503	SO:0001587	stop_gained	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27682188G>A	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.3760C>T	1.37:g.27682188G>A	ENSP00000419591:p.Arg1254*					MAP3K6_uc009vsw.1_Nonsense_Mutation_p.R1246*	p.R1254*	NM_004672	NP_004663	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	28	4009	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1254					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Nonsense_Mutation	SNP	ENST00000493901.1	37	c.3760C>T	CCDS299.1	.	.	.	.	.	.	.	.	.	.	G	44	10.634821	0.99441	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000357582	.	.	.	5.26	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6956	0.57001	0.0:0.0:0.6649:0.3351	.	.	.	.	X	1246;1254;1254	.	ENSP00000350195:R1254X	R	-	1	2	MAP3K6	27554775	0.079000	0.21365	0.999000	0.59377	0.997000	0.91878	0.488000	0.22371	0.667000	0.31107	0.655000	0.94253	CGA		0.527	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672		9	71	0	0	0	0	9	71				
MACF1	23499	broad.mit.edu	37	1	39812685	39812685	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr1:39812685C>A	ENST00000372915.3	+	40	10720	c.10633C>A	c.(10633-10635)Ctg>Atg	p.L3545M	MACF1_ENST00000567887.1_Missense_Mutation_p.L3577M|MACF1_ENST00000564288.1_Missense_Mutation_p.L3540M|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.L1980M|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3545					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAAAGCTCAGCTGGATGCTCT	0.413																																						uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(5938-5940)CTG>ATG		microfilament and actin filament cross-linker							94.0	91.0	92.0					1																	39812685		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39812685C>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.10633C>A	1.37:g.39812685C>A	ENSP00000362006:p.Leu3545Met					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.L1980M	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		5	6069	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3545					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.5938C>A		.	.	.	.	.	.	.	.	.	.	C	14.58	2.577225	0.45902	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.39406	1.08;1.08	5.3	3.44	0.39384	.	0.341651	0.20970	N	0.082412	T	0.58119	0.2100	M	0.70275	2.135	0.80722	D	1	D	0.65815	0.995	P	0.61328	0.887	T	0.58429	-0.7638	10	0.54805	T	0.06	.	11.762	0.51910	0.0:0.8569:0.0:0.1431	.	3545	Q9UPN3	MACF1_HUMAN	M	3545;1980	ENSP00000362006:L3545M;ENSP00000289893:L1980M	ENSP00000289893:L1980M	L	+	1	2	MACF1	39585272	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	1.455000	0.35190	0.638000	0.30545	-0.140000	0.14226	CTG		0.413	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		14	36	1	0	9.31e-06	9.82e-06	14	36				
YBX1	4904	broad.mit.edu	37	1	43166568	43166568	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr1:43166568A>G	ENST00000321358.7	+	7	996	c.857A>G	c.(856-858)aAt>aGt	p.N286S		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	286					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGCAACTTCAATTACCGACGC	0.527																																						uc001chs.2		NA																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(856-858)AAT>AGT		nuclease sensitive element binding protein 1							72.0	65.0	68.0					1																	43166568		2203	4300	6503	SO:0001583	missense	4904				CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:43166568A>G	BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"""nuclease sensitive element binding protein 1"""	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.857A>G	1.37:g.43166568A>G	ENSP00000361626:p.Asn286Ser						p.N286S	NM_004559	NP_004550	P67809	YBOX1_HUMAN			7	1028	+	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	286					P16990|P16991|Q14972|Q15325|Q5FVF0	Missense_Mutation	SNP	ENST00000321358.7	37	c.857A>G	CCDS470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.43|16.43	3.121542|3.121542	0.56613|0.56613	.|.	.|.	ENSG00000065978|ENSG00000065978	ENST00000436427|ENST00000321358;ENST00000318612	.|T	.|0.33865	.|1.39	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.080919	.|0.85682	.|N	.|0.000000	T|T	0.42063|0.42063	0.1186|0.1186	M|M	0.77712|0.77712	2.385|2.385	0.58432|0.58432	D|D	0.999998|0.999998	.|B	.|0.29862	.|0.259	.|B	.|0.32393	.|0.145	T|T	0.34030|0.34030	-0.9845|-0.9845	5|10	.|0.34782	.|T	.|0.22	-5.0878|-5.0878	13.3434|13.3434	0.60557|0.60557	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|286	.|P67809	.|YBOX1_HUMAN	V|S	336|286;276	.|ENSP00000361626:N286S	.|ENSP00000361621:N276S	I|N	+|+	1|2	0|0	YBX1|YBX1	42939155|42939155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.169000|8.169000	0.89672|0.89672	2.023000|2.023000	0.59567|0.59567	0.451000|0.451000	0.29950|0.29950	ATT|AAT		0.527	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019786.2	NM_004559		12	33	0	0	0	0	12	33				
TDRD10	126668	broad.mit.edu	37	1	154516537	154516537	+	Missense_Mutation	SNP	C	C	T	rs546615227		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr1:154516537C>T	ENST00000368480.3	+	9	687	c.602C>T	c.(601-603)aCg>aTg	p.T201M	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Missense_Mutation_p.T201M			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	201							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGCTGGTGACGAGTATCGTC	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17691	0.0		0.0	False		,,,				2504	0.0					uc009wow.2		NA																	0				ovary(1)	1						c.(601-603)ACG>ATG		tudor domain containing 10 isoform a							143.0	113.0	123.0					1																	154516537		2203	4300	6503	SO:0001583	missense	126668						nucleotide binding|RNA binding	g.chr1:154516537C>T	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.602C>T	1.37:g.154516537C>T	ENSP00000357465:p.Thr201Met					TDRD10_uc001ffd.2_Missense_Mutation_p.T201M|TDRD10_uc001ffe.2_Missense_Mutation_p.T122M	p.T201M	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		9	1440	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		201					A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	c.602C>T	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868482	0.51588	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.11930	2.73;2.73	4.47	4.47	0.54385	Maternal tudor protein (1);	0.000000	0.52532	D	0.000067	T	0.15219	0.0367	L	0.32530	0.975	0.26235	N	0.978951	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.983	T	0.01935	-1.1244	10	0.87932	D	0	-30.0634	12.5051	0.55977	0.0:1.0:0.0:0.0	.	201;201	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	M	201	ENSP00000357467:T201M;ENSP00000357465:T201M	ENSP00000357465:T201M	T	+	2	0	TDRD10	152783161	0.896000	0.30565	0.784000	0.31847	0.246000	0.25737	2.008000	0.40893	2.331000	0.79229	0.555000	0.69702	ACG		0.622	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499		25	48	0	0	0	0	25	48				
CCNJ	54619	broad.mit.edu	37	10	97817643	97817643	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr10:97817643A>G	ENST00000265992.5	+	6	1131	c.764A>G	c.(763-765)cAg>cGg	p.Q255R	CCNJ_ENST00000465148.2_Missense_Mutation_p.Q266R|ENTPD1-AS1_ENST00000427846.1_RNA|CCNJ_ENST00000534974.1_Missense_Mutation_p.Q255R|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CCNJ_ENST00000403870.3_Missense_Mutation_p.Q254R	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	255						nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		GCAGGACCTCAGTCAGCGCAA	0.468																																						uc001klm.2		NA																	0				ovary(1)	1						c.(763-765)CAG>CGG		cyclin J isoform 2							176.0	151.0	159.0					10																	97817643		2203	4300	6503	SO:0001583	missense	54619					nucleus		g.chr10:97817643A>G	AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.764A>G	10.37:g.97817643A>G	ENSP00000265992:p.Gln255Arg					uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Missense_Mutation_p.Q266R|CCNJ_uc001kln.2_Missense_Mutation_p.Q254R	p.Q255R	NM_019084	NP_061957	Q5T5M9	CCNJ_HUMAN		Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)	6	1123	+			255					B7Z4E7|Q86XL1|Q9NV69	Missense_Mutation	SNP	ENST00000265992.5	37	c.764A>G	CCDS7445.1	.	.	.	.	.	.	.	.	.	.	A	3.278	-0.147565	0.06627	.	.	ENSG00000107443	ENST00000265992;ENST00000419934;ENST00000403870;ENST00000534974	T;T;T	0.45668	0.89;1.47;0.89	5.5	5.5	0.81552	.	0.244914	0.43110	D	0.000614	T	0.23532	0.0569	N	0.08118	0	0.40131	D	0.976719	P;P;P	0.37914	0.557;0.557;0.611	B;B;B	0.34652	0.167;0.117;0.187	T	0.14090	-1.0485	10	0.33940	T	0.23	-11.3448	13.4336	0.61071	1.0:0.0:0.0:0.0	.	266;254;255	Q5T5M9-3;Q5T5M9-2;Q5T5M9	.;.;CCNJ_HUMAN	R	255;266;254;255	ENSP00000265992:Q255R;ENSP00000384498:Q254R;ENSP00000441415:Q255R	ENSP00000265992:Q255R	Q	+	2	0	CCNJ	97807633	1.000000	0.71417	1.000000	0.80357	0.287000	0.27160	4.259000	0.58828	2.216000	0.71823	0.533000	0.62120	CAG		0.468	CCNJ-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090166.3	NM_019084		31	17	0	0	0	0	31	17				
HRAS	3265	broad.mit.edu	37	11	534285	534285	+	Missense_Mutation	SNP	C	C	A	rs104894226		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr11:534285C>A	ENST00000451590.1	-	2	225	c.38G>T	c.(37-39)gGt>gTt	p.G13V	HRAS_ENST00000417302.1_Missense_Mutation_p.G13V|HRAS_ENST00000397596.2_Missense_Mutation_p.G13V|HRAS_ENST00000311189.7_Missense_Mutation_p.G13V|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G13V	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTTGCCCACACCGCCGGCGCC	0.642		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		25	Substitution - Missense(24)|Insertion - In frame(1)	p.G13R(33)|p.G13V(10)|p.G13D(9)|p.G13S(9)|p.G13C(6)|p.G13G(1)|p.G12_G13insAG(1)	upper_aerodigestive_tract(9)|thyroid(5)|urinary_tract(5)|lung(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|thymus(1)	urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749	GRCh37	CM053285	HRAS	M	rs104894226	c.(37-39)GGT>GTT		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						89.0	83.0	85.0					11																	534285		2202	4300	6502	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534285C>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.38G>T	11.37:g.534285C>A	ENSP00000407586:p.Gly13Val	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.G13V|HRAS_uc010qvx.1_Missense_Mutation_p.G13V|HRAS_uc010qvy.1_RNA	p.G13V	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	226	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	13		G -> D (in FCSS).|G -> C (in FCSS).	GTP.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.38G>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344392	0.61073	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.88716	0.6512	H	0.94264	3.515	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.69824	0.943;0.966	D	0.92025	0.5629	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	V	13	ENSP00000380722:G13V;ENSP00000380723:G13V;ENSP00000407586:G13V;ENSP00000388246:G13V;ENSP00000309845:G13V	ENSP00000309845:G13V	G	-	2	0	HRAS	524285	1.000000	0.71417	0.470000	0.27216	0.232000	0.25224	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT		0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		21	12	1	0	1.98e-07	2.12e-07	21	12				
HRAS	3265	broad.mit.edu	37	11	534291	534291	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr11:534291G>T	ENST00000451590.1	-	2	219	c.32C>A	c.(31-33)gCc>gAc	p.A11D	HRAS_ENST00000417302.1_Missense_Mutation_p.A11D|HRAS_ENST00000397596.2_Missense_Mutation_p.A11D|HRAS_ENST00000311189.7_Missense_Mutation_p.A11D|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.A11D	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	11					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACACCGCCGGCGCCCACCAC	0.652		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		0		p.A11A(2)|p.G10_A11insG(1)|p.A11S(1)		urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749						c.(31-33)GCC>GAC		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						72.0	69.0	70.0					11																	534291		2202	4300	6502	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534291G>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.32C>A	11.37:g.534291G>T	ENSP00000407586:p.Ala11Asp	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.A11D|HRAS_uc010qvx.1_Missense_Mutation_p.A11D|HRAS_uc010qvy.1_RNA	p.A11D	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	220	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	11			GTP.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.32C>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316626	0.40996	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.39759	0.1090	N	0.00483	-1.445	0.80722	D	1	B;B	0.30179	0.026;0.271	B;B	0.34385	0.024;0.181	T	0.48328	-0.9045	10	0.30854	T	0.27	.	14.1516	0.65389	0.0:0.0:1.0:0.0	.	11;11	P01112-2;P01112	.;RASH_HUMAN	D	11	ENSP00000380722:A11D;ENSP00000380723:A11D;ENSP00000407586:A11D;ENSP00000388246:A11D;ENSP00000309845:A11D	ENSP00000309845:A11D	A	-	2	0	HRAS	524291	1.000000	0.71417	0.838000	0.33150	0.377000	0.30045	6.284000	0.72652	1.986000	0.57962	0.561000	0.74099	GCC		0.652	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		19	11	1	0	3.99e-14	4.53e-14	19	11				
DNHD1	144132	broad.mit.edu	37	11	6593070	6593070	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr11:6593070T>A	ENST00000527990.2	+	41	14116	c.14116T>A	c.(14116-14118)Tcg>Acg	p.S4706T	DNHD1_ENST00000254579.6_Missense_Mutation_p.S4706T			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4706					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GACTGTGTACTCGTGTCCTGT	0.627																																						uc001mdw.3		NA																	0				ovary(2)	2						c.(14116-14118)TCG>ACG		dynein heavy chain domain 1 isoform 1							76.0	84.0	81.0					11																	6593070		2128	4244	6372	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6593070T>A	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.14116T>A	11.37:g.6593070T>A	ENSP00000436180:p.Ser4706Thr					DNHD1_uc001mea.3_Missense_Mutation_p.S975T|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Missense_Mutation_p.S974T|DNHD1_uc010rao.1_Missense_Mutation_p.S964T|DNHD1_uc009yfg.2_Missense_Mutation_p.S331T	p.S4706T	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	43	14680	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	4706					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.14116T>A	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.152577	0.57259	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000530197	T;T	0.08546	3.08;3.08	4.75	3.6	0.41247	Dynein heavy chain (1);	0.365968	0.26251	N	0.025453	T	0.15739	0.0379	M	0.63428	1.95	0.26090	N	0.980979	D;D;D	0.65815	0.995;0.995;0.995	D;D;P	0.64506	0.926;0.926;0.894	T	0.16070	-1.0415	10	0.13108	T	0.6	-16.2202	4.0332	0.09717	0.0:0.2759:0.0:0.7241	.	3794;759;4706	B0I1S4;Q9NSW8;Q96M86	.;.;DNHD1_HUMAN	T	4706;4706;974	ENSP00000254579:S4706T;ENSP00000436180:S4706T	ENSP00000254579:S4706T	S	+	1	0	DNHD1	6549646	0.986000	0.35501	0.996000	0.52242	0.926000	0.56050	2.189000	0.42621	1.997000	0.58415	0.533000	0.62120	TCG		0.627	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		13	54	0	0	0	0	13	54				
ANO5	203859	broad.mit.edu	37	11	22276979	22276979	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr11:22276979G>C	ENST00000324559.8	+	13	1560	c.1243G>C	c.(1243-1245)Gtg>Ctg	p.V415L		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	415					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGGGACCTGGTGGACTTTGA	0.363																																						uc001mqi.2		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(1243-1245)GTG>CTG		anoctamin 5 isoform a							163.0	166.0	165.0					11																	22276979		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22276979G>C	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1243G>C	11.37:g.22276979G>C	ENSP00000315371:p.Val415Leu					ANO5_uc001mqj.2_Missense_Mutation_p.V414L	p.V415L	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			13	1560	+			415			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.1243G>C	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330791	0.81690	.	.	ENSG00000171714	ENST00000324559	T	0.60920	0.15	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	L	0.33668	1.02	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.57300	-0.7835	10	0.09338	T	0.73	.	18.5352	0.91008	0.0:0.0:1.0:0.0	.	415	Q75V66	ANO5_HUMAN	L	415	ENSP00000315371:V415L	ENSP00000315371:V415L	V	+	1	0	ANO5	22233555	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.510000	0.73729	2.372000	0.80975	0.563000	0.77884	GTG		0.363	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		52	82	0	0	0	0	52	82				
MARK2	2011	broad.mit.edu	37	11	63668102	63668102	+	Silent	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr11:63668102G>A	ENST00000509502.2	+	9	1204	c.741G>A	c.(739-741)ctG>ctA	p.L247L	MARK2_ENST00000402010.2_Silent_p.L280L|MARK2_ENST00000377809.4_Silent_p.L280L|MARK2_ENST00000413835.2_Silent_p.L280L|MARK2_ENST00000315032.8_Silent_p.L280L|MARK2_ENST00000502399.3_Silent_p.L280L|MARK2_ENST00000377810.3_Silent_p.L247L|MARK2_ENST00000425897.2_Silent_p.L247L|MARK2_ENST00000361128.5_Silent_p.L280L|MARK2_ENST00000513765.2_Silent_p.L247L|MARK2_ENST00000408948.3_Silent_p.L247L|MARK2_ENST00000350490.7_Silent_p.L280L|MARK2_ENST00000508192.1_Silent_p.L280L	NM_017490.3	NP_059672.2			MAP/microtubule affinity-regulating kinase 2											autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GTGAAAACCTGCTTAAGAAAT	0.507																																						uc001nxw.2		NA																	0				stomach(1)|ovary(1)|lung(1)	3						c.(838-840)CTG>CTA		MAP/microtubule affinity-regulating kinase 2							185.0	216.0	205.0					11																	63668102		2201	4297	6498	SO:0001819	synonymous_variant	2011				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:63668102G>A	BC008771	CCDS8051.1, CCDS41665.1, CCDS8051.2, CCDS53649.1, CCDS53650.1, CCDS53651.1	11q13.1	2013-06-27	2002-07-26	2002-08-01	ENSG00000072518	ENSG00000072518			3332	protein-coding gene	gene with protein product	"""ELKL motif kinase 1"", ""serine/threonine kinase"", ""protein-serine/threonine kinase"", ""Ser/Thr protein kinase PAR-1B"""	600526	"""ELKL motif kinase"""	EMK1		9730619, 10516437	Standard	NM_017490		Approved	PAR-1, Par1b, PAR-1B	uc001nxw.3	Q7KZI7	OTTHUMG00000160504	ENST00000509502.2:c.741G>A	11.37:g.63668102G>A						MARK2_uc001nxx.2_Silent_p.L280L|MARK2_uc001nxy.2_Silent_p.L280L|MARK2_uc001nxv.3_Silent_p.L280L|MARK2_uc001nxz.3_Silent_p.L247L|MARK2_uc009yoy.2_Silent_p.L247L	p.L280L	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN			9	1419	+			280			Protein kinase.			Silent	SNP	ENST00000509502.2	37	c.840G>A	CCDS41665.1																																																																																				0.507	MARK2-003	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000360862.2	NM_017490		97	180	0	0	0	0	97	180				
ADAMTS20	80070	broad.mit.edu	37	12	43826253	43826253	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr12:43826253C>T	ENST00000389420.3	-	21	2949	c.2950G>A	c.(2950-2952)Gga>Aga	p.G984R	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.G138R|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G984R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	984	TSP type-1 4. {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)		CTTTCCCCTCCTCCACAACTC	0.368																																						uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(2950-2952)GGA>AGA		a disintegrin-like and metalloprotease with							89.0	91.0	90.0					12																	43826253		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43826253C>T	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.2950G>A	12.37:g.43826253C>T	ENSP00000374071:p.Gly984Arg					ADAMTS20_uc001rno.1_Missense_Mutation_p.G138R|ADAMTS20_uc001rnp.1_Missense_Mutation_p.G138R	p.G984R	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	21	2950	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	984			TSP type-1 4.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.2950G>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707722	0.30322	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	4.89	0.857	0.19025	.	0.549843	0.16358	N	0.217924	T	0.30479	0.0766	L	0.28014	0.82	0.24320	N	0.99505	B;B	0.31730	0.337;0.04	B;B	0.37943	0.261;0.096	T	0.22977	-1.0201	10	0.14252	T	0.57	.	5.3643	0.16105	0.0:0.2449:0.4933:0.2618	.	984;138	P59510;E9PBD5	ATS20_HUMAN;.	R	984;150;138;984;984	ENSP00000374071:G984R;ENSP00000447427:G150R;ENSP00000378911:G138R;ENSP00000448341:G984R	ENSP00000374068:G984R	G	-	1	0	ADAMTS20	42112520	0.806000	0.28996	0.993000	0.49108	0.989000	0.77384	0.463000	0.21972	0.278000	0.22164	-0.136000	0.14681	GGA		0.368	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		18	35	0	0	0	0	18	35				
LRP1	4035	broad.mit.edu	37	12	57601972	57601972	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr12:57601972A>G	ENST00000243077.3	+	77	12477	c.12011A>G	c.(12010-12012)cAc>cGc	p.H4004R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4004					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACGAGCCCCACGCCATTGTG	0.657																																						uc001snd.2		NA																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(12010-12012)CAC>CGC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						50.0	41.0	44.0					12																	57601972		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57601972A>G	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12011A>G	12.37:g.57601972A>G	ENSP00000243077:p.His4004Arg						p.H4004R	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	77	12477	+			4004			LDL-receptor class B 32.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.12011A>G	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441078	0.43326	.	.	ENSG00000123384	ENST00000243077	D	0.94931	-3.56	4.4	4.4	0.53042	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.074240	0.50627	D	0.000105	T	0.78698	0.4324	N	0.00217	-1.83	0.80722	D	1	P	0.47191	0.891	P	0.45753	0.492	D	0.83786	0.0228	10	0.02654	T	1	.	13.0389	0.58887	1.0:0.0:0.0:0.0	.	4004	Q07954	LRP1_HUMAN	R	4004	ENSP00000243077:H4004R	ENSP00000243077:H4004R	H	+	2	0	LRP1	55888239	0.680000	0.27605	0.997000	0.53966	0.988000	0.76386	4.302000	0.59092	1.973000	0.57446	0.533000	0.62120	CAC		0.657	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		7	12	0	0	0	0	7	12				
PAN3	255967	broad.mit.edu	37	13	28771372	28771372	+	Silent	SNP	A	A	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr13:28771372A>T	ENST00000380958.3	+	5	893	c.741A>T	c.(739-741)ggA>ggT	p.G247G	PAN3_ENST00000399613.1_Intron	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TTCCGATGGGATCAAAGGCAC	0.493																																						uc001urz.2		NA																	0				ovary(1)	1						c.(301-303)GGA>GGT		PABP1-dependent poly A-specific ribonuclease							50.0	47.0	48.0					13																	28771372		1568	3582	5150	SO:0001819	synonymous_variant	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28771372A>T	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.741A>T	13.37:g.28771372A>T						PAN3_uc010tdo.1_Silent_p.G247G|PAN3_uc001ury.2_5'UTR|PAN3_uc001urx.2_Intron	p.G101G	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	4	311	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	247			Interaction with polyadenylate-binding protein.			Silent	SNP	ENST00000380958.3	37	c.303A>T	CCDS9329.2																																																																																				0.493	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854		5	7	0	0	0	0	5	7				
DNAJC15	29103	broad.mit.edu	37	13	43597852	43597852	+	Silent	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr13:43597852C>T	ENST00000379221.2	+	1	514	c.90C>T	c.(88-90)gaC>gaT	p.D30D	DNAJC15_ENST00000474320.1_3'UTR	NM_013238.2	NP_037370.2	Q9Y5T4	DJC15_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 15	30					cellular response to starvation (GO:0009267)|negative regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902957)|negative regulation of protein complex assembly (GO:0031333)|protein transport (GO:0015031)|regulation of lipid metabolic process (GO:0019216)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|kidney(1)|urinary_tract(1)	4		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		CAGACGCCGACGTCGACCAGC	0.642																																						uc001uyy.2		NA																	0					0						c.(88-90)GAC>GAT		DNAJ domain-containing							23.0	23.0	23.0					13																	43597852		2203	4299	6502	SO:0001819	synonymous_variant	29103					integral to membrane	heat shock protein binding	g.chr13:43597852C>T	AF126743	CCDS9388.1	13q14.1	2011-09-02	2005-06-30	2005-06-30	ENSG00000120675	ENSG00000120675		"""Heat shock proteins / DNAJ (HSP40)"""	20325	protein-coding gene	gene with protein product		615339	"""DnaJ (Hsp40) homolog, subfamily D, member 1"""	DNAJD1		11358853	Standard	NM_013238		Approved	MCJ	uc001uyy.3	Q9Y5T4	OTTHUMG00000016813	ENST00000379221.2:c.90C>T	13.37:g.43597852C>T							p.D30D	NM_013238	NP_037370	Q9Y5T4	DJC15_HUMAN		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)	1	491	+		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	30					B2R4L0|Q5T219|Q6X963	Silent	SNP	ENST00000379221.2	37	c.90C>T	CCDS9388.1																																																																																				0.642	DNAJC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044709.2	NM_013238		4	9	0	0	0	0	4	9				
ATP4B	496	broad.mit.edu	37	13	114304774	114304774	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr13:114304774G>A	ENST00000335288.4	-	6	702	c.661C>T	c.(661-663)Ccc>Tcc	p.P221S		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	221	immunoglobulin-like.				cell adhesion (GO:0007155)|hydrogen ion transmembrane transport (GO:1902600)|ion transmembrane transport (GO:0034220)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	hydrogen:potassium-exchanging ATPase activity (GO:0008900)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)			GTGCCGTTGGGAGGGTAGTAC	0.622																																						uc001vtz.2		NA																	0				ovary(1)	1						c.(661-663)CCC>TCC		hydrogen/potassium-exchanging ATPase 4B	Rabeprazole(DB01129)						100.0	86.0	91.0					13																	114304774		2203	4300	6503	SO:0001583	missense	496				ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity	g.chr13:114304774G>A		CCDS9539.1	13q34	2011-08-01			ENSG00000186009	ENSG00000186009	3.6.3.10	"""ATPases / P-type"""	820	protein-coding gene	gene with protein product		137217				1330887, 15057823	Standard	NM_000705		Approved	ATP6B	uc001vtz.3	P51164	OTTHUMG00000140234	ENST00000335288.4:c.661C>T	13.37:g.114304774G>A	ENSP00000334216:p.Pro221Ser						p.P221S	NM_000705	NP_000696	P51164	ATP4B_HUMAN	all cancers(43;0.171)		6	703	-	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	221			Extracellular (Potential).		B1B0N8	Missense_Mutation	SNP	ENST00000335288.4	37	c.661C>T	CCDS9539.1	.	.	.	.	.	.	.	.	.	.	G	0.064	-1.216433	0.01542	.	.	ENSG00000186009	ENST00000335288	T	0.27402	1.67	4.0	1.16	0.20824	.	0.693870	0.12904	N	0.429484	T	0.14184	0.0343	N	0.17723	0.515	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.32534	-0.9903	10	0.09084	T	0.74	-0.0866	3.937	0.09310	0.0973:0.4551:0.3012:0.1464	.	221	P51164	ATP4B_HUMAN	S	221	ENSP00000334216:P221S	ENSP00000334216:P221S	P	-	1	0	ATP4B	113352775	0.709000	0.27886	0.743000	0.31040	0.137000	0.21094	1.634000	0.37123	0.419000	0.25927	-0.274000	0.10170	CCC		0.622	ATP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276703.2	NM_000705		24	37	0	0	0	0	24	37				
TPPP2	122664	broad.mit.edu	37	14	21499180	21499180	+	Silent	SNP	C	C	T	rs202091704		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr14:21499180C>T	ENST00000321760.6	+	3	331	c.183C>T	c.(181-183)aaC>aaT	p.N61N	RP11-998D10.1_ENST00000531638.1_5'Flank|NDRG2_ENST00000403829.3_Intron|AL161668.5_ENST00000533984.1_lincRNA|TPPP2_ENST00000460647.2_Silent_p.N61N|TPPP2_ENST00000530140.2_Silent_p.N61N	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	61						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGGCCAAGAACGCCCGAACCA	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		23217	0.001		0.0	False		,,,				2504	0.0					uc001vzh.2		NA																	0					0						c.(181-183)AAC>AAT		tubulin polymerization-promoting protein family							73.0	70.0	71.0					14																	21499180		2203	4300	6503	SO:0001819	synonymous_variant	122664					cytoplasm		g.chr14:21499180C>T	AY072034	CCDS9566.1	14q11.2	2014-01-21	2007-05-02	2007-05-02	ENSG00000179636	ENSG00000179636			19293	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 8"""	C14orf8		15590652, 17105200	Standard	NM_173846		Approved	p25beta, p18, CT152	uc001vzh.3	P59282	OTTHUMG00000029642	ENST00000321760.6:c.183C>T	14.37:g.21499180C>T						NDRG2_uc010tll.1_Intron	p.N61N	NM_173846	NP_776245	P59282	TPPP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)	3	371	+	all_cancers(95;0.000759)		61					Q2VYF3	Silent	SNP	ENST00000321760.6	37	c.183C>T	CCDS9566.1																																																																																				0.483	TPPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073914.3	NM_173846		12	23	0	0	0	0	12	23				
TINF2	26277	broad.mit.edu	37	14	24709835	24709835	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr14:24709835G>A	ENST00000267415.7	-	6	1192	c.851C>T	c.(850-852)aCa>aTa	p.T284I	TINF2_ENST00000540705.1_Missense_Mutation_p.T249I|TINF2_ENST00000559019.1_3'UTR|TINF2_ENST00000399423.4_Missense_Mutation_p.T284I|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000558510.1_5'Flank|TINF2_ENST00000538777.1_Missense_Mutation_p.T70I	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	284					negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of protein ADP-ribosylation (GO:0010836)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of telomere maintenance (GO:0032206)|protein localization to chromosome (GO:0034502)|protein localization to chromosome, telomeric region (GO:0070198)|telomere assembly (GO:0032202)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	chromosome, telomeric region (GO:0000781)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinucleolar chromocenter (GO:0010370)	telomeric DNA binding (GO:0042162)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CAGCATGACTGTGGGGCGCTC	0.552									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome																													uc001woa.3		NA																	0					0						c.(850-852)ACA>ATA		TERF1 (TRF1)-interacting nuclear factor 2							70.0	68.0	69.0					14																	24709835		1970	4152	6122	SO:0001583	missense	26277	Ataxia_Pancytopenia_syndrome|Congenital_Dyskeratosis	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita;Myelocerebellar disorder	negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|protein binding|telomeric DNA binding	g.chr14:24709835G>A	AF195512	CCDS41936.1, CCDS41937.1	14q12	2008-07-29				ENSG00000092330			11824	protein-coding gene	gene with protein product		604319				10581025, 18252230	Standard	NM_012461		Approved	TIN2	uc001woa.4	Q9BSI4		ENST00000267415.7:c.851C>T	14.37:g.24709835G>A	ENSP00000267415:p.Thr284Ile					TINF2_uc010alm.2_Missense_Mutation_p.T108I|TINF2_uc001wob.3_Missense_Mutation_p.T284I|TINF2_uc010tof.1_Missense_Mutation_p.T249I|TINF2_uc001woc.3_3'UTR	p.T284I	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN		GBM - Glioblastoma multiforme(265;0.0185)	6	1193	-			284					B3W5Q7|Q9H904|Q9UHC2	Missense_Mutation	SNP	ENST00000267415.7	37	c.851C>T	CCDS41936.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518620	0.64634	.	.	ENSG00000092330	ENST00000267415;ENST00000540705;ENST00000399423;ENST00000538777	D;D;D;D	0.92911	-2.73;-2.73;-2.71;-3.13	5.16	4.27	0.50696	.	0.153579	0.41712	D	0.000834	D	0.94594	0.8258	M	0.66939	2.045	0.36265	D	0.854807	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.95837	0.8863	10	0.87932	D	0	-8.7709	9.6388	0.39826	0.096:0.0:0.904:0.0	.	249;284	B4DFJ1;Q9BSI4	.;TINF2_HUMAN	I	284;249;284;70	ENSP00000267415:T284I;ENSP00000442154:T249I;ENSP00000382350:T284I;ENSP00000437495:T70I	ENSP00000267415:T284I	T	-	2	0	TINF2	23779675	0.991000	0.36638	0.997000	0.53966	0.979000	0.70002	2.075000	0.41538	1.179000	0.42884	0.462000	0.41574	ACA		0.552	TINF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415406.2			17	28	0	0	0	0	17	28				
TP53BP1	7158	broad.mit.edu	37	15	43720231	43720231	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr15:43720231C>T	ENST00000263801.3	-	18	4048	c.3796G>A	c.(3796-3798)Gaa>Aaa	p.E1266K	TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1271K|TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1271K|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1271K	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1266					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACTTTTCTTTCTACTTCTGTT	0.383								Other conserved DNA damage response genes																														uc001zrs.2		NA																	0				ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1)	7						c.(3796-3798)GAA>AAA	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	tumor protein p53 binding protein 1 isoform 3							195.0	190.0	192.0					15																	43720231		2201	4298	6499	SO:0001583	missense	7158				double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity	g.chr15:43720231C>T	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3796G>A	15.37:g.43720231C>T	ENSP00000263801:p.Glu1266Lys					TP53BP1_uc010udp.1_Missense_Mutation_p.E1266K|TP53BP1_uc001zrq.3_Missense_Mutation_p.E1271K|TP53BP1_uc001zrr.3_Missense_Mutation_p.E1271K|TP53BP1_uc010udq.1_Missense_Mutation_p.E1271K	p.E1266K	NM_005657	NP_005648	Q12888	TP53B_HUMAN		GBM - Glioblastoma multiforme(94;1.59e-06)	18	3944	-		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)	1266					F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	37	c.3796G>A	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945488	0.92593	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.07114	3.3;3.3;3.22;3.29	5.51	5.51	0.81932	.	0.123593	0.53938	D	0.000053	T	0.12944	0.0314	N	0.24115	0.695	0.50813	D	0.999898	P;P;D;P	0.55605	0.953;0.877;0.972;0.925	P;P;P;P	0.52159	0.551;0.494;0.691;0.691	T	0.05115	-1.0905	10	0.36615	T	0.2	-16.6438	19.7689	0.96353	0.0:1.0:0.0:0.0	.	1271;1266;1271;1271	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	K	1266;1271;1271;1271	ENSP00000263801:E1266K;ENSP00000371475:E1271K;ENSP00000371470:E1271K;ENSP00000393497:E1271K	ENSP00000263801:E1266K	E	-	1	0	TP53BP1	41507523	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.650000	0.67944	2.747000	0.94245	0.650000	0.86243	GAA		0.383	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			39	90	0	0	0	0	39	90				
SEC11A	23478	broad.mit.edu	37	15	85230875	85230875	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr15:85230875C>G	ENST00000268220.7	-	3	932	c.292G>C	c.(292-294)Gtc>Ctc	p.V98L	RP11-245C17.2_ENST00000558044.1_RNA|SEC11A_ENST00000558134.1_Missense_Mutation_p.V98L|SEC11A_ENST00000455959.3_Missense_Mutation_p.V72L|SEC11A_ENST00000560266.1_Missense_Mutation_p.V98L	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	98					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	serine-type peptidase activity (GO:0008236)			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			ATCTTCAAGACTCGGTGAACT	0.343																																						uc002blb.1		NA																	0				ovary(1)	1						c.(292-294)GTC>CTC		SEC11-like 1							182.0	175.0	177.0					15																	85230875		1844	4092	5936	SO:0001583	missense	23478				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity	g.chr15:85230875C>G	AF061737	CCDS45340.1, CCDS61742.1, CCDS61743.1, CCDS61744.1, CCDS73776.1	15q25.2	2006-11-07	2006-11-07	2006-11-07		ENSG00000140612			17718	protein-coding gene	gene with protein product			"""SEC11-like 1 (S. cerevisiae)"""	SEC11L1			Standard	NM_001271919		Approved	SPC18, sid2895, SPCS4A	uc031qtg.1	P67812		ENST00000268220.7:c.292G>C	15.37:g.85230875C>G	ENSP00000268220:p.Val98Leu					SEC11A_uc002blc.1_Missense_Mutation_p.V72L	p.V98L	NM_014300	NP_055115	P67812	SC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.199)		3	660	-			98			Lumenal (Potential).		B2RAD7|B4DUL4|H0YK72|H0YK83|O75957|P21378|Q53FQ8	Missense_Mutation	SNP	ENST00000268220.7	37	c.292G>C	CCDS45340.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770933	0.90108	.	.	ENSG00000140612	ENST00000268220;ENST00000455959	.	.	.	5.42	5.42	0.78866	Peptidase S24/S26A/S26B/S26C (1);Peptidase S24/S26A/S26B/S26C, beta-ribbon domain (1);Peptidase S24/S26A/S26B (1);	0.000000	0.85682	D	0.000000	D	0.83626	0.5295	M	0.91768	3.24	0.80722	D	1	D	0.61697	0.99	P	0.59546	0.859	D	0.87237	0.2264	9	0.66056	D	0.02	.	16.7174	0.85400	0.0:1.0:0.0:0.0	.	98	P67812	SC11A_HUMAN	L	98;72	.	ENSP00000268220:V98L	V	-	1	0	SEC11A	83031879	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.755000	0.85180	2.545000	0.85829	0.585000	0.79938	GTC		0.343	SEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418777.1	NM_014300		21	75	0	0	0	0	21	75				
CACNA1H	8912	broad.mit.edu	37	16	1265063	1265063	+	Missense_Mutation	SNP	G	G	A	rs369914175		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr16:1265063G>A	ENST00000348261.5	+	28	5269	c.5021G>A	c.(5020-5022)cGt>cAt	p.R1674H	CACNA1H_ENST00000565831.1_Missense_Mutation_p.R1668H|CACNA1H_ENST00000358590.4_Missense_Mutation_p.R1668H	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1674					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TTTGGGTTCCGTCGGTTCTTC	0.622																																						uc002cks.2		NA																	0				breast(2)	2						c.(5020-5022)CGT>CAT		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)	G	HIS/ARG,HIS/ARG	0,4076		0,0,2038	160.0	155.0	157.0		5003,5021	3.1	1.0	16		157	1,8333		0,1,4166	no	missense,missense	CACNA1H	NM_001005407.1,NM_021098.2	29,29	0,1,6204	AA,AG,GG		0.012,0.0,0.0081	probably-damaging,probably-damaging	1668/2348,1674/2354	1265063	1,12409	2038	4167	6205	SO:0001583	missense	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1265063G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.5021G>A	16.37:g.1265063G>A	ENSP00000334198:p.Arg1674His					CACNA1H_uc002ckt.2_Missense_Mutation_p.R1668H|CACNA1H_uc002cku.2_Missense_Mutation_p.R380H|CACNA1H_uc010brj.2_Missense_Mutation_p.R385H|CACNA1H_uc002ckv.2_Missense_Mutation_p.R374H	p.R1674H	NM_021098	NP_066921	O95180	CAC1H_HUMAN			28	5269	+		Hepatocellular(780;0.00369)	1674			IV.|Cytoplasmic (Potential).		B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.5021G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.360566	0.24598	0.0	1.2E-4	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.97831	-4.56;-4.56	4.04	3.08	0.35506	Ion transport (1);	0.569246	0.18050	N	0.153307	D	0.98083	0.9368	M	0.63428	1.95	0.39642	D	0.970333	P;D;D;D;D	0.89917	0.811;0.987;0.987;0.972;1.0	B;P;P;B;D	0.75484	0.155;0.708;0.708;0.445;0.986	D	0.98411	1.0572	10	0.72032	D	0.01	.	12.6206	0.56601	0.0:0.0:0.8329:0.1671	.	420;409;415;1668;1674	A2SX38;A2SX35;A2SX37;O95180-2;O95180	.;.;.;.;CAC1H_HUMAN	H	1674;1668	ENSP00000334198:R1674H;ENSP00000351401:R1668H	ENSP00000334198:R1674H	R	+	2	0	CACNA1H	1205064	1.000000	0.71417	0.992000	0.48379	0.546000	0.35178	5.959000	0.70339	1.040000	0.40099	-0.336000	0.08194	CGT		0.622	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		7	10	0	0	0	0	7	10				
TBC1D24	57465	broad.mit.edu	37	16	2546268	2546268	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr16:2546268G>A	ENST00000293970.5	+	2	252	c.119G>A	c.(118-120)cGc>cAc	p.R40H	TBC1D24_ENST00000434757.2_Missense_Mutation_p.R40H|TBC1D24_ENST00000567020.1_Missense_Mutation_p.R40H|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.R40H	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	40			R -> C (in DOORS). {ECO:0000269|PubMed:24291220}.		neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CAGCTGGCGCGCCAGGGCTAC	0.642																																						uc002cql.2		NA																	0					0						c.(118-120)CGC>CAC		TBC1 domain family, member 24							41.0	50.0	47.0					16																	2546268		2099	4218	6317	SO:0001583	missense	57465				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity	g.chr16:2546268G>A	AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.119G>A	16.37:g.2546268G>A	ENSP00000293970:p.Arg40His					TBC1D24_uc002cqk.2_Missense_Mutation_p.R40H|TBC1D24_uc002cqm.2_Missense_Mutation_p.R40H|TBC1D24_uc010bsm.2_5'Flank	p.R40H	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN			2	259	+			40					A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	ENST00000293970.5	37	c.119G>A	CCDS55980.1	.	.	.	.	.	.	.	.	.	.	G	28.3	4.907087	0.92107	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.63417	-0.04;-0.04	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.78691	0.4323	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.79931	-0.1595	10	0.72032	D	0.01	-53.2261	18.1789	0.89771	0.0:0.0:1.0:0.0	.	40;40;40	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	H	40	ENSP00000293970:R40H;ENSP00000390106:R40H	ENSP00000293970:R40H	R	+	2	0	TBC1D24	2486269	1.000000	0.71417	0.995000	0.50966	0.907000	0.53573	9.460000	0.97641	2.642000	0.89623	0.549000	0.68633	CGC		0.642	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000435637.1	NM_020705		13	31	0	0	0	0	13	31				
GRIN2A	2903	broad.mit.edu	37	16	9943686	9943686	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr16:9943686C>T	ENST00000396573.2	-	6	1564	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	GRIN2A_ENST00000535259.1_Missense_Mutation_p.V262M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V419M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V419M|GRIN2A_ENST00000562109.1_Missense_Mutation_p.V419M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V419M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	419					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATGTCTTCCACGATGACGAAT	0.572																																						uc002czo.3		NA																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(1255-1257)GTG>ATG		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						179.0	141.0	154.0					16																	9943686		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9943686C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1255G>A	16.37:g.9943686C>T	ENSP00000379818:p.Val419Met					GRIN2A_uc010uym.1_Missense_Mutation_p.V419M|GRIN2A_uc010uyn.1_Missense_Mutation_p.V262M|GRIN2A_uc002czr.3_Missense_Mutation_p.V419M	p.V419M	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			5	1803	-			419			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.1255G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144854	0.94603	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.15952	2.4;2.38;2.42;2.4;2.4	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.49150	0.1540	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.991;0.993	T	0.55547	-0.8124	9	.	.	.	.	17.7785	0.88516	0.0:1.0:0.0:0.0	.	262;419;419	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	M	419;419;262;419;419	ENSP00000379818:V419M;ENSP00000385872:V419M;ENSP00000441572:V262M;ENSP00000332549:V419M;ENSP00000379820:V419M	.	V	-	1	0	GRIN2A	9851187	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.684000	0.84104	2.430000	0.82344	0.655000	0.94253	GTG		0.572	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			24	45	0	0	0	0	24	45				
ZFHX3	463	broad.mit.edu	37	16	72993515	72993515	+	Missense_Mutation	SNP	G	G	A	rs202071159	byFrequency	TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr16:72993515G>A	ENST00000268489.5	-	2	1202	c.530C>T	c.(529-531)gCg>gTg	p.A177V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	177					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTGCCCCCCGCGCCAGGGAG	0.637													g|||	21	0.00419329	0.0	0.0	5008	,	,		14802	0.001		0.0	False		,,,				2504	0.0204					uc002fck.2		NA																	0				ovary(2)|skin(2)	4						c.(529-531)GCG>GTG		zinc finger homeobox 3 isoform A		A	,VAL/ALA	2,4394	4.2+/-10.8	0,2,2196	35.0	41.0	39.0		,530	1.6	0.5	16		39	0,8600		0,0,4300	yes	intron,missense	ZFHX3	NM_001164766.1,NM_006885.3	,64	0,2,6496	AA,AG,GG		0.0,0.0455,0.0154	,possibly-damaging	,177/3704	72993515	2,12994	2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72993515G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.530C>T	16.37:g.72993515G>A	ENSP00000268489:p.Ala177Val					ZFHX3_uc002fcl.2_Intron	p.A177V	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	1203	-		Ovarian(137;0.13)	177					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.530C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	g	1.348	-0.592304	0.03799	4.55E-4	0.0	ENSG00000140836	ENST00000268489	T	0.73681	-0.77	4.7	1.6	0.23607	.	0.596471	0.13772	N	0.363857	T	0.63082	0.2481	N	0.24115	0.695	0.58432	D	0.999999	D	0.64830	0.994	P	0.48063	0.565	T	0.51957	-0.8639	10	0.19147	T	0.46	.	10.7325	0.46104	0.25:0.0:0.75:0.0	.	177	Q15911	ZFHX3_HUMAN	V	177	ENSP00000268489:A177V	ENSP00000268489:A177V	A	-	2	0	ZFHX3	71551016	0.346000	0.24844	0.493000	0.27502	0.064000	0.16182	2.155000	0.42301	-0.057000	0.13199	-2.299000	0.00261	GCG		0.637	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		12	44	0	0	0	0	12	44				
NEK8	284086	broad.mit.edu	37	17	27067575	27067575	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr17:27067575C>G	ENST00000268766.6	+	11	1546	c.1512C>G	c.(1510-1512)atC>atG	p.I504M	AC010761.6_ENST00000584779.1_RNA|AC010761.6_ENST00000582536.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	504					organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TATGTGGTATCGATTCCTCCA	0.587																																					NSCLC(6;19 293 14866 25253 49845)	uc002hcp.2		NA																	0				stomach(2)|ovary(1)|pancreas(1)|liver(1)|skin(1)	6						c.(1510-1512)ATC>ATG		NIMA-related kinase 8							126.0	114.0	118.0					17																	27067575		2203	4300	6503	SO:0001583	missense	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27067575C>G	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1512C>G	17.37:g.27067575C>G	ENSP00000268766:p.Ile504Met						p.I504M	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN			11	1512	+	Lung NSC(42;0.0158)		504			RCC1 3.		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	ENST00000268766.6	37	c.1512C>G	CCDS32597.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.159569	0.38119	.	.	ENSG00000160602	ENST00000268766	D	0.84660	-1.88	5.56	-8.74	0.00838	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.053662	0.85682	D	0.000000	D	0.84174	0.5414	L	0.43152	1.355	0.35870	D	0.828142	D	0.55172	0.97	P	0.57371	0.819	D	0.87660	0.2534	10	0.54805	T	0.06	.	18.0846	0.89453	0.0:0.6728:0.0:0.3272	.	504	Q86SG6	NEK8_HUMAN	M	504	ENSP00000268766:I504M	ENSP00000268766:I504M	I	+	3	3	NEK8	24091702	0.000000	0.05858	0.640000	0.29408	0.434000	0.31775	-2.854000	0.00730	-1.892000	0.01108	-2.320000	0.00252	ATC		0.587	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2			28	43	0	0	0	0	28	43				
NF1	4763	broad.mit.edu	37	17	29657375	29657375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr17:29657375C>T	ENST00000358273.4	+	39	6054	c.5671C>T	c.(5671-5673)Cag>Tag	p.Q1891*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q1870*|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1891					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)|p.Q1891*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATCGAGGGCCAGTTACTAGA	0.398			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(3)|Substitution - Nonsense(1)		soft_tissue(7)|autonomic_ganglia(2)|lung(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(5671-5673)CAG>TAG		neurofibromin isoform 1							109.0	102.0	104.0					17																	29657375		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29657375C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.5671C>T	17.37:g.29657375C>T	ENSP00000351015:p.Gln1891*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Nonsense_Mutation_p.Q1870*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q903*|NF1_uc010cso.2_Nonsense_Mutation_p.Q79*	p.Q1891*	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	39	6004	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1891					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.5671C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	44	11.087046	0.99514	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	18.6083	0.91275	0.0:1.0:0.0:0.0	.	.	.	.	X	1891;1870;1536	.	ENSP00000348498:Q1870X	Q	+	1	0	NF1	26681501	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.456000	0.80751	2.627000	0.88993	0.650000	0.86243	CAG		0.398	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		5	69	0	0	0	0	5	69				
NPEPPS	9520	broad.mit.edu	37	17	45663002	45663002	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr17:45663002A>G	ENST00000322157.4	+	6	1022	c.785A>G	c.(784-786)gAt>gGt	p.D262G	NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.D182G|NPEPPS_ENST00000530173.1_Missense_Mutation_p.D258G	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	262					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						AGGTCAAAAGATGGTGTGTGT	0.418																																						uc002ilr.3		NA																	0					0						c.(784-786)GAT>GGT		aminopeptidase puromycin sensitive							201.0	187.0	191.0					17																	45663002		1895	4115	6010	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45663002A>G	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.785A>G	17.37:g.45663002A>G	ENSP00000320324:p.Asp262Gly					NPEPPS_uc010wkt.1_Missense_Mutation_p.D258G|NPEPPS_uc010wku.1_Missense_Mutation_p.D226G|NPEPPS_uc010dba.1_Missense_Mutation_p.D107G|NPEPPS_uc010wkv.1_5'Flank	p.D262G	NM_006310	NP_006301	P55786	PSA_HUMAN			6	1008	+			262					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.785A>G	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.666500	0.67814	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660	T;T;T	0.02890	4.12;4.12;4.12	4.99	4.99	0.66335	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.145674	0.64402	N	0.000009	T	0.07818	0.0196	L	0.45352	1.415	0.80722	D	1	D;B;B	0.56035	0.974;0.004;0.004	P;B;B	0.57009	0.811;0.034;0.034	T	0.38478	-0.9659	10	0.36615	T	0.2	.	14.8449	0.70254	1.0:0.0:0.0:0.0	.	262;258;262	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	G	258;262;249;182	ENSP00000433287:D258G;ENSP00000320324:D262G;ENSP00000442461:D182G	ENSP00000320324:D262G	D	+	2	0	NPEPPS	43018001	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.124000	0.94394	2.100000	0.63781	0.528000	0.53228	GAT		0.418	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		45	101	0	0	0	0	45	101				
USP32	84669	broad.mit.edu	37	17	58257980	58257980	+	Missense_Mutation	SNP	C	C	T	rs17405746		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr17:58257980C>T	ENST00000300896.4	-	33	4761	c.4567G>A	c.(4567-4569)Ggt>Agt	p.G1523S	USP32_ENST00000592339.1_Missense_Mutation_p.G1193S	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1523	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGGCCCCCACCCAGAATTCCT	0.443																																						uc002iyo.1		NA																	0				lung(2)|breast(2)|large_intestine(1)	5						c.(4567-4569)GGT>AGT		ubiquitin specific protease 32							119.0	105.0	110.0					17																	58257980		2203	4300	6503	SO:0001583	missense	84669				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:58257980C>T	AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.4567G>A	17.37:g.58257980C>T	ENSP00000300896:p.Gly1523Ser					USP32_uc002iyn.1_Missense_Mutation_p.G1193S	p.G1523S	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)		33	4853	-	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1523					Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	ENST00000300896.4	37	c.4567G>A	CCDS32697.1	.	.	.	.	.	.	.	.	.	.	C	35	5.414921	0.96092	.	.	ENSG00000170832	ENST00000300896	T	0.27890	1.64	5.72	5.72	0.89469	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	M	0.70842	2.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.52801	-0.8527	10	0.42905	T	0.14	.	18.852	0.92235	0.0:1.0:0.0:0.0	rs17405746	1523	Q8NFA0	UBP32_HUMAN	S	1523	ENSP00000300896:G1523S	ENSP00000300896:G1523S	G	-	1	0	USP32	55612762	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.780000	0.85658	2.690000	0.91761	0.650000	0.86243	GGT		0.443	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449235.2	NM_032582		12	22	0	0	0	0	12	22				
NEDD4L	23327	broad.mit.edu	37	18	55711935	55711935	+	Missense_Mutation	SNP	G	G	A	rs12968145		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr18:55711935G>A	ENST00000400345.3	+	1	326	c.43G>A	c.(43-45)Gac>Aac	p.D15N	NEDD4L_ENST00000382850.4_Missense_Mutation_p.D15N|NEDD4L_ENST00000356462.6_Missense_Mutation_p.D15N|NEDD4L_ENST00000456986.1_5'Flank|NEDD4L_ENST00000589054.1_Missense_Mutation_p.D15N|NEDD4L_ENST00000256832.7_5'UTR|NEDD4L_ENST00000256830.9_Missense_Mutation_p.D15N	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	15	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						ACTTTCCGAAGACGAGGTGAG	0.741																																						uc002lgy.2		NA																	0				lung(4)	4						c.(43-45)GAC>AAC		neural precursor cell expressed, developmentally							26.0	30.0	29.0					18																	55711935		1799	4056	5855	SO:0001583	missense	23327				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	g.chr18:55711935G>A	AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.43G>A	18.37:g.55711935G>A	ENSP00000383199:p.Asp15Asn					NEDD4L_uc002lgz.2_Missense_Mutation_p.D15N|NEDD4L_uc002lgx.2_Missense_Mutation_p.D15N|NEDD4L_uc010xee.1_5'Flank|NEDD4L_uc002lha.1_5'Flank	p.D15N	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN			1	317	+			15			C2.		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	ENST00000400345.3	37	c.43G>A	CCDS45872.1	.	.	.	.	.	.	.	.	.	.	G	8.037	0.763122	0.15914	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830	T;T;T;T	0.33865	1.4;1.39;1.39;1.4	3.32	2.44	0.29823	C2 membrane targeting protein (1);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.14356	0.0347	N	0.03154	-0.405	0.80722	D	1	B;B;B	0.21606	0.001;0.058;0.056	B;B;B	0.19391	0.002;0.017;0.025	T	0.07578	-1.0765	9	0.21014	T	0.42	.	6.7669	0.23573	0.1396:0.0:0.8604:0.0	.	15;15;15	Q96PU5-2;Q96PU5;Q96PU5-5	.;NED4L_HUMAN;.	N	15	ENSP00000383199:D15N;ENSP00000372301:D15N;ENSP00000348847:D15N;ENSP00000256830:D15N	ENSP00000256830:D15N	D	+	1	0	NEDD4L	53862933	1.000000	0.71417	0.761000	0.31378	0.063000	0.16089	2.653000	0.46691	0.400000	0.25396	-0.700000	0.03674	GAC		0.741	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000448749.1			5	23	0	0	0	0	5	23				
ZNF461	92283	broad.mit.edu	37	19	37130912	37130912	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:37130912G>T	ENST00000588268.1	-	6	562	c.335C>A	c.(334-336)tCt>tAt	p.S112Y	ZNF461_ENST00000360357.4_Missense_Mutation_p.S89Y|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCTTTTTGGAGATAACTTCTG	0.348																																						uc002oem.2		NA																	0					0						c.(334-336)TCT>TAT		gonadotropin inducible transcription repressor							59.0	58.0	58.0					19																	37130912		1808	4068	5876	SO:0001583	missense	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37130912G>T	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.335C>A	19.37:g.37130912G>T	ENSP00000467931:p.Ser112Tyr					ZNF461_uc002oen.2_Missense_Mutation_p.S81Y|ZNF461_uc010xtj.1_Missense_Mutation_p.S89Y	p.S112Y	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	563	-	Esophageal squamous(110;0.198)		112					A8K9W9|Q6VSF7|Q9ULZ8	Missense_Mutation	SNP	ENST00000588268.1	37	c.335C>A	CCDS54257.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.703132	0.00096	.	.	ENSG00000197808	ENST00000396893;ENST00000360357;ENST00000396892	T	0.07021	3.23	3.31	-0.186	0.13272	.	.	.	.	.	T	0.05456	0.0144	L	0.55481	1.735	0.09310	N	1	B;B;B	0.33299	0.278;0.407;0.407	B;B;B	0.25405	0.037;0.06;0.06	T	0.38802	-0.9644	9	0.02654	T	1	.	5.2421	0.15477	0.4593:0.0:0.5407:0.0	.	89;34;112	B4DRP8;Q59G30;Q8TAF7	.;.;ZN461_HUMAN	Y	112;89;47	ENSP00000353515:S89Y	ENSP00000353515:S89Y	S	-	2	0	ZNF461	41822752	0.005000	0.15991	0.021000	0.16686	0.213000	0.24496	-0.058000	0.11750	0.034000	0.15491	0.655000	0.94253	TCT		0.348	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	NM_153257		12	85	1	0	2.27e-07	2.42e-07	12	85				
SNRPA	6626	broad.mit.edu	37	19	41268965	41268965	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:41268965C>T	ENST00000243563.3	+	4	1136	c.586C>T	c.(586-588)Ccc>Tcc	p.P196S		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	196	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGGACAGATGCCCCCTGCCCA	0.607																																						uc002ooz.2		NA																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(586-588)CCC>TCC		small nuclear ribonucleoprotein polypeptide A							21.0	24.0	23.0					19																	41268965		2203	4300	6503	SO:0001583	missense	6626					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:41268965C>T	X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"""RNA binding motif (RRM) containing"""	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.586C>T	19.37:g.41268965C>T	ENSP00000243563:p.Pro196Ser					SNRPA_uc002opa.2_Missense_Mutation_p.P146S	p.P196S	NM_004596	NP_004587	P09012	SNRPA_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		4	1121	+			196			Pro-rich.			Missense_Mutation	SNP	ENST00000243563.3	37	c.586C>T	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	C	14.30	2.495091	0.44352	.	.	ENSG00000077312	ENST00000243563;ENST00000545469	T	0.27104	1.69	5.24	5.24	0.73138	.	0.125017	0.53938	D	0.000046	T	0.19046	0.0457	L	0.40543	1.245	0.41216	D	0.986479	B	0.18741	0.03	B	0.13407	0.009	T	0.04635	-1.0937	10	0.07482	T	0.82	-5.0128	12.6146	0.56569	0.0:0.7161:0.2839:0.0	.	196	P09012	SNRPA_HUMAN	S	196;117	ENSP00000243563:P196S	ENSP00000243563:P196S	P	+	1	0	SNRPA	45960805	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	3.150000	0.50662	2.430000	0.82344	0.655000	0.94253	CCC		0.607	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596		12	42	0	0	0	0	12	42				
GRIK5	2901	broad.mit.edu	37	19	42563637	42563637	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:42563637G>C	ENST00000262895.3	-	5	550	c.551C>G	c.(550-552)tCc>tGc	p.S184C	GRIK5_ENST00000593562.1_Missense_Mutation_p.S184C|GRIK5_ENST00000301218.4_Missense_Mutation_p.S184C	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	184					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				CGTCTCCTTGGAGATGAGGAA	0.607																																						uc002osj.1		NA																	0					0						c.(550-552)TCC>TGC		glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)						104.0	83.0	90.0					19																	42563637		2203	4300	6503	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42563637G>C		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.551C>G	19.37:g.42563637G>C	ENSP00000262895:p.Ser184Cys					GRIK5_uc010eib.1_Missense_Mutation_p.S103C	p.S184C	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			5	586	-		Prostate(69;0.059)	184			Extracellular (Potential).		Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.551C>G	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269103	0.80469	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	D;D	0.83335	-1.71;-1.71	4.62	4.62	0.57501	Extracellular ligand-binding receptor (1);	0.311546	0.30365	N	0.009793	D	0.89434	0.6714	M	0.63428	1.95	0.48830	D	0.99971	D	0.89917	1.0	D	0.87578	0.998	D	0.89133	0.3511	10	0.42905	T	0.14	.	16.6235	0.84936	0.0:0.0:1.0:0.0	.	184	Q16478	GRIK5_HUMAN	C	184	ENSP00000262895:S184C;ENSP00000301218:S184C	ENSP00000262895:S184C	S	-	2	0	GRIK5	47255477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.249000	0.95470	2.280000	0.76307	0.549000	0.68633	TCC		0.607	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			13	68	0	0	0	0	13	68				
MARK4	57787	broad.mit.edu	37	19	45774927	45774927	+	Silent	SNP	C	C	T	rs140158030		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:45774927C>T	ENST00000262891.4	+	8	1078	c.747C>T	c.(745-747)ctC>ctT	p.L249L	MARK4_ENST00000300843.4_Silent_p.L249L	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGTACACCCTCGTCAGCGGCT	0.672																																						uc002pbb.1		NA																	0				central_nervous_system(2)|large_intestine(1)	3						c.(745-747)CTC>CTT		RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;		C	,	1,4405	2.1+/-5.4	0,1,2202	61.0	64.0	63.0		747,747	-2.3	1.0	19	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MARK4	NM_001199867.1,NM_031417.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	249/753,249/689	45774927	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45774927C>T	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.747C>T	19.37:g.45774927C>T						MARK4_uc002paz.1_Missense_Mutation_p.S60L|MARK4_uc002pba.1_Silent_p.L249L|MARK4_uc002pbc.1_Silent_p.L115L	p.L249L			Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	8	752	+		all_neural(266;0.224)|Ovarian(192;0.231)	249			Protein kinase.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	c.747C>T	CCDS56097.1																																																																																				0.672	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		68	42	0	0	0	0	68	42				
ZNF347	84671	broad.mit.edu	37	19	53643919	53643919	+	Missense_Mutation	SNP	C	C	A	rs150489253	byFrequency	TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:53643919C>A	ENST00000334197.7	-	5	2230	c.2162G>T	c.(2161-2163)cGt>cTt	p.R721L	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.R722L|ZNF347_ENST00000452676.2_Missense_Mutation_p.R722L	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	721					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TAGGCTTGAACGGACACTAAA	0.423																																					Melanoma(64;205 1597 17324 45721)	uc002qbb.1		NA																	0					0						c.(2161-2163)CGT>CTT		zinc finger protein 347							163.0	151.0	155.0					19																	53643919		2203	4300	6503	SO:0001583	missense	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53643919C>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.2162G>T	19.37:g.53643919C>A	ENSP00000334146:p.Arg721Leu					ZNF347_uc010eql.1_Missense_Mutation_p.R722L|ZNF347_uc002qbc.1_Missense_Mutation_p.R722L	p.R721L	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2231	-			721			C2H2-type 17.		B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	SNP	ENST00000334197.7	37	c.2162G>T	CCDS33097.1	.	.	.	.	.	.	.	.	.	.	C	5.501	0.277357	0.10403	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.20598	2.06;2.06	2.59	-5.18	0.02840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07773	0.0195	N	0.20845	0.615	0.09310	N	1	P;B	0.50617	0.937;0.016	B;B	0.38056	0.264;0.002	T	0.06698	-1.0812	9	0.31617	T	0.26	.	0.3986	0.00422	0.2395:0.1509:0.2632:0.3465	.	722;721	G5E9N4;Q96SE7	.;ZN347_HUMAN	L	721;722	ENSP00000334146:R721L;ENSP00000405218:R722L	ENSP00000334146:R721L	R	-	2	0	ZNF347	58335731	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-5.362000	0.00128	-2.501000	0.00510	-0.311000	0.09066	CGT		0.423	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		41	168	1	0	4.16e-14	4.7e-14	41	168				
EPN1	29924	broad.mit.edu	37	19	56203254	56203254	+	Silent	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:56203254C>T	ENST00000270460.6	+	7	1208	c.897C>T	c.(895-897)ccC>ccT	p.P299P	AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000411543.2_Silent_p.P385P|EPN1_ENST00000085079.7_Silent_p.P274P	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	299	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GGGGCGGCCCCCCTGTCCCTC	0.756																																						uc002qlw.2		NA																	0					0						c.(895-897)CCC>CCT		epsin 1 isoform b							12.0	15.0	14.0					19																	56203254		1775	4001	5776	SO:0001819	synonymous_variant	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56203254C>T	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.897C>T	19.37:g.56203254C>T						EPN1_uc002qlv.2_Silent_p.P274P|EPN1_uc010etd.2_Silent_p.P299P|EPN1_uc002qlx.2_Silent_p.P385P	p.P299P	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	7	1239	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	299			Ala/Gly/Pro-rich.|8 X 3 AA repeats of [ED]-P-W.		Q86ST3|Q9HA18	Silent	SNP	ENST00000270460.6	37	c.897C>T	CCDS46199.1																																																																																				0.756	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		9	29	0	0	0	0	9	29				
AURKC	6795	broad.mit.edu	37	19	57743501	57743501	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr19:57743501G>A	ENST00000302804.7	+	3	391	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	AURKC_ENST00000599062.1_Missense_Mutation_p.V66M|AURKC_ENST00000598785.1_Missense_Mutation_p.V35M|AURKC_ENST00000448930.1_Missense_Mutation_p.V35M|AURKC_ENST00000415300.2_Missense_Mutation_p.V50M	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	69	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CCATTTCATTGTGGCCCTGAA	0.542																																						uc002qoe.2		NA																	0				lung(4)|ovary(2)	6						c.(205-207)GTG>ATG		aurora kinase C isoform 1							61.0	52.0	55.0					19																	57743501		2203	4300	6503	SO:0001583	missense	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57743501G>A		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.205G>A	19.37:g.57743501G>A	ENSP00000302898:p.Val69Met					AURKC_uc002qoc.2_Missense_Mutation_p.V50M|AURKC_uc002qod.2_Missense_Mutation_p.V35M|AURKC_uc010etv.2_Missense_Mutation_p.V66M	p.V69M	NM_001015878	NP_001015878	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	3	394	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	69			Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	c.205G>A	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.022814	0.54683	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.72282	-0.64;-0.64;-0.64	3.79	3.79	0.43588	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.143121	0.50627	D	0.000112	T	0.80507	0.4636	M	0.82517	2.595	0.46185	D	0.998918	D;D;D	0.59357	0.985;0.959;0.981	P;P;P	0.62089	0.898;0.848;0.773	T	0.81495	-0.0907	10	0.62326	D	0.03	-27.3925	7.4375	0.27164	0.1141:0.0:0.8859:0.0	.	66;69;50	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	M	50;35;69	ENSP00000407162:V50M;ENSP00000406798:V35M;ENSP00000302898:V69M	ENSP00000302898:V69M	V	+	1	0	AURKC	62435313	0.879000	0.30193	1.000000	0.80357	0.724000	0.41520	1.172000	0.31908	2.421000	0.82119	0.555000	0.69702	GTG		0.542	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		34	30	0	0	0	0	34	30				
NBAS	51594	broad.mit.edu	37	2	15557650	15557650	+	Splice_Site	SNP	C	C	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr2:15557650C>A	ENST00000281513.5	-	24	2789		c.e24+1		NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence						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						ATAAAACCTACACTATTCATC	0.323																																						uc002rcc.1		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.e24+1		neuroblastoma-amplified protein							53.0	50.0	51.0					2																	15557650		2203	4300	6503	SO:0001630	splice_region_variant	51594							g.chr2:15557650C>A	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.2763+1G>T	2.37:g.15557650C>A						NBAS_uc010exl.1_Intron|NBAS_uc002rcd.1_Splice_Site	p.S921_splice	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			24	2789	-								O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Splice_Site	SNP	ENST00000281513.5	37	c.2763_splice	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.038807	0.75617	.	.	ENSG00000151779	ENST00000281513;ENST00000429842	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8685	0.96840	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NBAS	15475101	1.000000	0.71417	0.609000	0.28983	0.970000	0.65996	7.372000	0.79612	2.715000	0.92844	0.585000	0.79938	.		0.323	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	Intron	13	20	1	0	0.000219431	0.00022769	13	20				
HK2	3099	broad.mit.edu	37	2	75116479	75116479	+	Missense_Mutation	SNP	G	G	A	rs148653106		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr2:75116479G>A	ENST00000290573.2	+	17	3083	c.2483G>A	c.(2482-2484)cGg>cAg	p.R828Q	HK2_ENST00000409174.1_Missense_Mutation_p.R800Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	828	Catalytic.|Hexokinase type-2 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GTGGTGGCCCGGCGGGCAGCC	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19759	0.0		0.0	False		,,,				2504	0.0					uc002snd.2		NA																	0				ovary(1)|lung(1)	2						c.(2482-2484)CGG>CAG		hexokinase 2		G	GLN/ARG	0,4406		0,0,2203	82.0	72.0	75.0		2483	4.0	0.7	2	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	missense	HK2	NM_000189.4	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	828/918	75116479	1,13005	2203	4300	6503	SO:0001583	missense	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75116479G>A		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.2483G>A	2.37:g.75116479G>A	ENSP00000290573:p.Arg828Gln						p.R828Q	NM_000189	NP_000180	P52789	HXK2_HUMAN			17	4409	+			828			Catalytic.		D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	37	c.2483G>A	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044427	0.55110	0.0	1.16E-4	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96365	-3.99;-3.99	4.86	3.98	0.46160	Hexokinase, C-terminal (1);	0.178695	0.45606	D	0.000360	D	0.92299	0.7557	L	0.55103	1.725	0.40775	D	0.983126	P	0.51537	0.946	B	0.34385	0.181	D	0.90657	0.4587	10	0.38643	T	0.18	-11.6776	10.6668	0.45734	0.0932:0.0:0.9068:0.0	.	828	P52789	HXK2_HUMAN	Q	828;828;800	ENSP00000290573:R828Q;ENSP00000387140:R800Q	ENSP00000290573:R828Q	R	+	2	0	HK2	74969987	0.995000	0.38212	0.713000	0.30519	0.219000	0.24729	3.916000	0.56416	1.278000	0.44430	0.561000	0.74099	CGG		0.607	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189		10	17	0	0	0	0	10	17				
NFE2L2	4780	broad.mit.edu	37	2	178098956	178098956	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr2:178098956A>T	ENST00000397062.3	-	2	643	c.89T>A	c.(88-90)cTt>cAt	p.L30H	NFE2L2_ENST00000446151.2_Missense_Mutation_p.L14H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.L14H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L14H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.L14H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	30					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L30R(2)|p.L30H(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTTACTCCAAGATCTATATC	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NA		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		3	Substitution - Missense(3)		endometrium(2)|kidney(1)	central_nervous_system(1)	1						c.(88-90)CTT>CAT		nuclear factor erythroid 2-like 2 isoform 1							68.0	61.0	63.0					2																	178098956		1839	4101	5940	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098956A>T		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.89T>A	2.37:g.178098956A>T	ENSP00000380252:p.Leu30His	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.L14H|NFE2L2_uc010zfa.1_Missense_Mutation_p.L14H|NFE2L2_uc002uli.3_Missense_Mutation_p.L14H|NFE2L2_uc010fra.2_Missense_Mutation_p.L14H|NFE2L2_uc010frb.2_Missense_Mutation_p.L14H	p.L30H	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	644	-			30					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.89T>A	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	A	19.86	3.906080	0.72868	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.72959	-0.4133	10	0.87932	D	0	.	16.098	0.81144	1.0:0.0:0.0:0.0	.	14;14;14;30	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	H	14;30;14;14;14;14;14	ENSP00000380253:L14H;ENSP00000380252:L30H;ENSP00000411575:L14H;ENSP00000391590:L14H;ENSP00000400073:L14H;ENSP00000412191:L14H;ENSP00000410015:L14H	ENSP00000380252:L30H	L	-	2	0	NFE2L2	177807202	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.210000	0.71456	0.460000	0.39030	CTT		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		19	15	0	0	0	0	19	15				
CASP8	841	broad.mit.edu	37	2	202131240	202131240	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr2:202131240G>A	ENST00000432109.2	+	3	220	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	CASP8_ENST00000392266.3_Missense_Mutation_p.G11R|CASP8_ENST00000264275.5_Missense_Mutation_p.G11R|CASP8_ENST00000392259.2_Missense_Mutation_p.G11R|CASP8_ENST00000392258.3_Missense_Mutation_p.G11R|CASP8_ENST00000264274.9_Missense_Mutation_p.G11R|CASP8_ENST00000323492.7_Missense_Mutation_p.G11R|CASP8_ENST00000358485.4_Missense_Mutation_p.G70R	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	11	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.G11R(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTATGATATTGGGGAACAACT	0.403										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	1	Substitution - Missense(1)	p.G11R(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(31-33)GGG>AGG		caspase 8 isoform B precursor							68.0	72.0	70.0					2																	202131240		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202131240G>A	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.31G>A	2.37:g.202131240G>A	ENSP00000412523:p.Gly11Arg	HNSCC(4;0.00038)				CASP8_uc010ftc.1_Missense_Mutation_p.G11R|CASP8_uc002uxo.1_Missense_Mutation_p.G11R|CASP8_uc002uxp.1_Missense_Mutation_p.G11R|CASP8_uc002uxq.1_Missense_Mutation_p.G11R|CASP8_uc002uxs.1_Missense_Mutation_p.G11R|CASP8_uc002uxt.1_Missense_Mutation_p.G70R|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.G11R|CASP8_uc002uxw.1_Missense_Mutation_p.G11R|CASP8_uc002uxy.1_Missense_Mutation_p.G11R|CASP8_uc002uxx.1_Missense_Mutation_p.G11R|CASP8_uc010ftf.2_Missense_Mutation_p.G11R	p.G11R	NM_033355	NP_203519	Q14790	CASP8_HUMAN			3	240	+			11			DED 1.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.31G>A	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506052	0.26949	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.46	4.58	0.56647	DEATH-like (2);Death effector (3);	0.740466	0.13477	N	0.384987	D	0.88716	0.6512	M	0.78637	2.42	0.09310	N	1	D;P;D;D;D;P;P;D;D	0.76494	0.999;0.924;0.995;0.992;0.991;0.843;0.948;0.995;0.999	D;P;D;D;P;P;P;D;D	0.70016	0.961;0.732;0.939;0.964;0.891;0.77;0.759;0.943;0.967	T	0.78856	-0.2039	10	0.59425	D	0.04	.	4.4631	0.11676	0.2353:0.0:0.604:0.1607	.	11;11;11;11;70;11;11;11;11	Q14790-3;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;CASP8_HUMAN;.;.;.	R	11;11;11;11;11;11;11;11;11;70;11;11;11;11	ENSP00000376091:G11R;ENSP00000264274:G11R;ENSP00000376088:G11R;ENSP00000376094:G11R;ENSP00000412523:G11R;ENSP00000264275:G11R;ENSP00000396869:G11R;ENSP00000376087:G11R;ENSP00000388306:G11R;ENSP00000351273:G70R;ENSP00000397528:G11R;ENSP00000325722:G11R;ENSP00000390641:G11R	ENSP00000264274:G11R	G	+	1	0	CASP8	201839485	1.000000	0.71417	0.067000	0.19924	0.012000	0.07955	2.392000	0.44433	1.272000	0.44329	0.655000	0.94253	GGG		0.403	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		33	17	0	0	0	0	33	17				
MPP4	58538	broad.mit.edu	37	2	202509991	202509991	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr2:202509991T>A	ENST00000409474.3	-	22	2063	c.1856A>T	c.(1855-1857)cAg>cTg	p.Q619L	RNU6-651P_ENST00000411040.1_RNA|MPP4_ENST00000359962.5_Missense_Mutation_p.Q619L|MPP4_ENST00000409143.1_Missense_Mutation_p.Q561L|MPP4_ENST00000396886.3_Missense_Mutation_p.Q544L|TMEM237_ENST00000409883.2_5'Flank|MPP4_ENST00000447335.2_Missense_Mutation_p.Q612L|TMEM237_ENST00000409444.2_5'Flank|MPP4_ENST00000315506.7_Missense_Mutation_p.Q575L|MPP4_ENST00000428900.2_Missense_Mutation_p.Q595L	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	619					protein localization to synapse (GO:0035418)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|presynaptic membrane (GO:0042734)				kidney(1)|lung(11)	12						AGGCTCCTCCTGAGCCTTCTG	0.443																																						uc002uyk.3		NA																	0					0						c.(1855-1857)CAG>CTG		membrane protein, palmitoylated 4							71.0	71.0	71.0					2																	202509991		1913	4137	6050	SO:0001583	missense	58538					cytoplasm	protein binding	g.chr2:202509991T>A	AF316032	CCDS46491.1	2q33.2	2008-05-15			ENSG00000082126	ENSG00000082126			13680	protein-coding gene	gene with protein product		606575		DLG6		11414766	Standard	NM_033066		Approved		uc002uyk.4	Q96JB8	OTTHUMG00000154525	ENST00000409474.3:c.1856A>T	2.37:g.202509991T>A	ENSP00000387278:p.Gln619Leu					ALS2CR4_uc002uyg.1_5'Flank|ALS2CR4_uc002uyh.1_5'Flank|MPP4_uc002uyi.3_Missense_Mutation_p.Q237L|MPP4_uc010ftj.2_Missense_Mutation_p.Q612L|MPP4_uc010zhq.1_Missense_Mutation_p.Q588L|MPP4_uc010zhr.1_Missense_Mutation_p.Q595L|MPP4_uc010zhs.1_Missense_Mutation_p.Q544L|MPP4_uc002uyj.3_Missense_Mutation_p.Q584L|MPP4_uc010zht.1_Missense_Mutation_p.Q561L|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.Q575L	p.Q619L	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN			22	2064	-			619			Potential.		C9IZK4|Q53TT3|Q6ZNH6|Q96Q43|Q96Q44	Missense_Mutation	SNP	ENST00000409474.3	37	c.1856A>T	CCDS46491.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.688287	0.88639	.	.	ENSG00000082126	ENST00000409474;ENST00000315506;ENST00000396886;ENST00000359962;ENST00000315549;ENST00000374605;ENST00000428900;ENST00000409143;ENST00000447335	T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22	5.48	5.48	0.80851	Guanylate kinase/L-type calcium channel (1);	0.228496	0.38663	N	0.001609	T	0.36580	0.0972	L	0.57536	1.79	0.80722	D	1	D;B;D;D;D;D;D;D	0.61697	0.99;0.255;0.983;0.983;0.99;0.969;0.983;0.973	P;B;P;P;P;P;P;D	0.63283	0.897;0.197;0.791;0.791;0.897;0.791;0.791;0.913	T	0.07868	-1.0750	10	0.62326	D	0.03	.	15.6059	0.76672	0.0:0.0:0.0:1.0	.	561;544;595;588;575;612;619;584	F6Q0Y6;B4DUF3;E7ET46;B7ZM19;Q96JB8-2;E7EUL8;Q96JB8;Q96JB8-4	.;.;.;.;.;.;MPP4_HUMAN;.	L	619;575;544;619;584;548;595;561;612	ENSP00000387278:Q619L;ENSP00000319363:Q575L;ENSP00000353047:Q619L;ENSP00000416781:Q595L;ENSP00000387293:Q561L;ENSP00000406160:Q612L	ENSP00000319363:Q575L	Q	-	2	0	MPP4	202218236	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.499000	0.81566	2.081000	0.62600	0.533000	0.62120	CAG		0.443	MPP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335748.2			20	8	0	0	0	0	20	8				
SIGLEC1	6614	broad.mit.edu	37	20	3684688	3684688	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr20:3684688G>A	ENST00000344754.4	-	4	756	c.757C>T	c.(757-759)Ctt>Ttt	p.L253F	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L253F	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	253	Ig-like C2-type 2.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TCACCTGGAAGGATGTTCCTC	0.577																																						uc002wja.2		NA																	0				pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(757-759)CTT>TTT		sialoadhesin precursor							92.0	75.0	81.0					20																	3684688		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3684688G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.757C>T	20.37:g.3684688G>A	ENSP00000341141:p.Leu253Phe					SIGLEC1_uc002wiz.3_Missense_Mutation_p.L253F|SIGLEC1_uc002wjc.2_Missense_Mutation_p.L164F	p.L253F	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			4	757	-			253			Ig-like C2-type 2.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.757C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168627	0.57584	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.11277	2.79;2.79	5.16	5.16	0.70880	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.260464	0.20455	N	0.092020	T	0.14874	0.0359	N	0.20483	0.58	0.32598	N	0.526319	D;D;D	0.63880	0.984;0.993;0.964	P;P;P	0.57960	0.807;0.83;0.804	T	0.04976	-1.0914	10	0.56958	D	0.05	.	11.276	0.49168	0.0:0.0:0.8176:0.1824	.	253;253;253	Q9BZZ2-2;Q9BZZ2;Q9BZZ2-3	.;SN_HUMAN;.	F	253	ENSP00000341141:L253F;ENSP00000202578:L253F	ENSP00000202578:L253F	L	-	1	0	SIGLEC1	3632688	0.998000	0.40836	1.000000	0.80357	0.566000	0.35808	2.528000	0.45624	2.398000	0.81561	0.655000	0.94253	CTT		0.577	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		18	38	0	0	0	0	18	38				
CDS2	8760	broad.mit.edu	37	20	5169814	5169814	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr20:5169814A>C	ENST00000460006.1	+	11	1390	c.1083A>C	c.(1081-1083)aaA>aaC	p.K361N	CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Missense_Mutation_p.K241N|CDS2_ENST00000535100.1_Missense_Mutation_p.K131N	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	361					CDP-diacylglycerol biosynthetic process (GO:0016024)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	phosphatidate cytidylyltransferase activity (GO:0004605)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GTGGATTCAAACGAGCCTTTA	0.517																																						uc002wls.2		NA																	0					0						c.(1081-1083)AAA>AAC		phosphatidate cytidylyltransferase 2							132.0	131.0	131.0					20																	5169814		2203	4300	6503	SO:0001583	missense	8760				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity	g.chr20:5169814A>C	AF069532	CCDS13088.1	20p13	2006-03-28			ENSG00000101290	ENSG00000101290	2.7.7.41		1801	protein-coding gene	gene with protein product		603549				9806839, 9889000	Standard	NM_003818		Approved		uc002wls.3	O95674	OTTHUMG00000031801	ENST00000460006.1:c.1083A>C	20.37:g.5169814A>C	ENSP00000419879:p.Lys361Asn					CDS2_uc010zqt.1_RNA|CDS2_uc002wlu.2_Missense_Mutation_p.N313T|CDS2_uc010zqu.1_Missense_Mutation_p.K241N|CDS2_uc002wlv.2_Missense_Mutation_p.K263N|CDS2_uc010zqv.1_Missense_Mutation_p.K131N	p.K361N	NM_003818	NP_003809	O95674	CDS2_HUMAN			11	1340	+			361					B2RDC6|D3DW04|Q5TDY2|Q5TDY3|Q5TDY4|Q5TDY5|Q9BYK5|Q9NTT2	Missense_Mutation	SNP	ENST00000460006.1	37	c.1083A>C	CCDS13088.1	.	.	.	.	.	.	.	.	.	.	A	18.49	3.635055	0.67130	.	.	ENSG00000101290	ENST00000460006;ENST00000379062;ENST00000535100	T;T;T	0.73897	-0.79;-0.79;-0.79	5.6	-0.834	0.10779	.	0.000000	0.85682	D	0.000000	D	0.88880	0.6557	H	0.97158	3.95	0.58432	D	0.999997	D;D;D	0.89917	0.996;0.988;1.0	D;P;D	0.97110	0.981;0.901;1.0	D	0.88777	0.3268	10	0.87932	D	0	-4.2746	11.9284	0.52833	0.4976:0.0:0.5024:0.0	.	131;241;361	F6VWC5;E7EQ83;O95674	.;.;CDS2_HUMAN	N	361;241;131	ENSP00000419879:K361N;ENSP00000368352:K241N;ENSP00000440555:K131N	ENSP00000368352:K241N	K	+	3	2	CDS2	5117814	0.991000	0.36638	0.949000	0.38748	0.988000	0.76386	0.375000	0.20518	-0.366000	0.08064	-0.443000	0.05667	AAA		0.517	CDS2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077858.2			23	41	0	0	0	0	23	41				
PYGB	5834	broad.mit.edu	37	20	25239873	25239873	+	Splice_Site	SNP	C	C	T	rs201508171		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr20:25239873C>T	ENST00000216962.4	+	2	354	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	82					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GCTTCCTCAGCGCATTTATTA	0.478																																						uc002wup.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(244-246)CGC>TGC		brain glycogen phosphorylase	Pyridoxal Phosphate(DB00114)						97.0	100.0	99.0					20																	25239873		2203	4300	6503	SO:0001630	splice_region_variant	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25239873C>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.244-1C>T	20.37:g.25239873C>T							p.R82C	NM_002862	NP_002853	P11216	PYGB_HUMAN			2	353	+			82					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.244C>T	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132719	0.77662	.	.	ENSG00000100994	ENST00000216962	D	0.88975	-2.45	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	D	0.96097	0.8728	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97332	0.9951	9	.	.	.	-20.4752	16.214	0.82191	0.0:1.0:0.0:0.0	.	82	P11216	PYGB_HUMAN	C	82	ENSP00000216962:R82C	.	R	+	1	0	PYGB	25187873	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.038000	0.41184	2.431000	0.82371	0.655000	0.94253	CGC		0.478	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862	Missense_Mutation	10	27	0	0	0	0	10	27				
DNTTIP1	116092	broad.mit.edu	37	20	44439538	44439538	+	Silent	SNP	C	C	T	rs148278422		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr20:44439538C>T	ENST00000372622.3	+	12	878	c.810C>T	c.(808-810)atC>atT	p.I270I	UBE2C_ENST00000405520.1_5'Flank|UBE2C_ENST00000352551.5_5'Flank|UBE2C_ENST00000372568.4_5'Flank|UBE2C_ENST00000335046.3_5'Flank|UBE2C_ENST00000243893.6_5'Flank|UBE2C_ENST00000356455.4_5'Flank	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	270						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				ACCTCCTCATCGAGGAGGACA	0.507																																						uc002xpk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(808-810)ATC>ATT		terminal deoxynucleotidyltransferase interacting		C		2,4404	6.2+/-15.9	0,2,2201	105.0	89.0	94.0		810	-11.4	0.6	20	dbSNP_134	94	0,8600		0,0,4300	no	coding-synonymous	DNTTIP1	NM_052951.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		270/330	44439538	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	116092					nucleus		g.chr20:44439538C>T	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.810C>T	20.37:g.44439538C>T						UBE2C_uc002xpl.2_5'Flank|UBE2C_uc002xpm.2_5'Flank|UBE2C_uc002xpn.2_5'Flank|UBE2C_uc002xpo.2_5'Flank|UBE2C_uc002xpp.2_5'Flank|UBE2C_uc002xpq.2_5'Flank	p.I270I	NM_052951	NP_443183	Q9H147	TDIF1_HUMAN			12	878	+		Myeloproliferative disorder(115;0.0122)	270					B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	ENST00000372622.3	37	c.810C>T	CCDS13369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.820|5.820	0.335574|0.335574	0.11013|0.11013	4.54E-4|4.54E-4	0.0|0.0	ENSG00000101457|ENSG00000101457	ENST00000456939|ENST00000435014	.|.	.|.	.|.	5.68|5.68	-11.4|-11.4	0.00090|0.00090	.|.	.|.	.|.	.|.	.|.	.|T	.|0.40423	.|0.1116	.|.	.|.	.|.	0.52099|0.52099	D|D	0.99994|0.99994	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.49093	.|-0.8975	.|4	.|.	.|.	.|.	-12.6626|-12.6626	5.3687|5.3687	0.16127|0.16127	0.0927:0.5037:0.1383:0.2653|0.0927:0.5037:0.1383:0.2653	.|.	.|.	.|.	.|.	X|L	221|173	.|.	.|.	R|S	+|+	1|2	2|0	DNTTIP1|DNTTIP1	43872945|43872945	0.000000|0.000000	0.05858|0.05858	0.602000|0.602000	0.28890|0.28890	0.664000|0.664000	0.39144|0.39144	-2.983000|-2.983000	0.00661|0.00661	-1.728000|-1.728000	0.01366|0.01366	-2.537000|-2.537000	0.00180|0.00180	CGA|TCG		0.507	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		14	28	0	0	0	0	14	28				
TIAM1	7074	broad.mit.edu	37	21	32639127	32639127	+	Silent	SNP	C	C	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr21:32639127C>G	ENST00000286827.3	-	5	633	c.162G>C	c.(160-162)gtG>gtC	p.V54V	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.V54V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	54					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ATCGGGTGCTCACTTCGGAGT	0.637																																						uc002yow.1		NA																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(160-162)GTG>GTC		T-cell lymphoma invasion and metastasis 1							44.0	47.0	46.0					21																	32639127		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32639127C>G		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.162G>C	21.37:g.32639127C>G						TIAM1_uc011adk.1_Silent_p.V54V|TIAM1_uc011adl.1_Silent_p.V54V|TIAM1_uc002yox.1_Intron	p.V54V	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			5	634	-			54					B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.162G>C	CCDS13609.1																																																																																				0.637	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		10	31	0	0	0	0	10	31				
TIAM1	7074	broad.mit.edu	37	21	32639148	32639148	+	Silent	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr21:32639148C>T	ENST00000286827.3	-	5	612	c.141G>A	c.(139-141)gtG>gtA	p.V47V	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.V47V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	47					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCCTGTGGATCACCTTCCCCG	0.627																																						uc002yow.1		NA																	0				lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(139-141)GTG>GTA		T-cell lymphoma invasion and metastasis 1							46.0	48.0	47.0					21																	32639148		2203	4300	6503	SO:0001819	synonymous_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32639148C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.141G>A	21.37:g.32639148C>T						TIAM1_uc011adk.1_Silent_p.V47V|TIAM1_uc011adl.1_Silent_p.V47V|TIAM1_uc002yox.1_Intron	p.V47V	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			5	613	-			47					B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	c.141G>A	CCDS13609.1																																																																																				0.627	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		7	30	0	0	0	0	7	30				
TTC3	7267	broad.mit.edu	37	21	38538338	38538338	+	Silent	SNP	C	C	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr21:38538338C>G	ENST00000399017.2	+	33	6569	c.3822C>G	c.(3820-3822)gtC>gtG	p.V1274V	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Silent_p.V1274V|TTC3_ENST00000354749.2_Silent_p.V1274V	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1274					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CCAAAGGGGTCTCTTCTAATT	0.458																																					Ovarian(38;194 1649 35661)	uc002yvz.2		NA																	0				skin(3)|ovary(2)|lung(2)|breast(2)	9						c.(3820-3822)GTC>GTG		tetratricopeptide repeat domain 3							62.0	68.0	66.0					21																	38538338		2202	4300	6502	SO:0001819	synonymous_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38538338C>G	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.3822C>G	21.37:g.38538338C>G						TTC3_uc011aee.1_Silent_p.V964V|TTC3_uc002ywa.2_Silent_p.V1274V|TTC3_uc002ywb.2_Silent_p.V1274V|TTC3_uc010gnf.2_Silent_p.V1039V|TTC3_uc002ywc.2_Silent_p.V964V|TTC3_uc002ywd.1_Silent_p.V338V	p.V1274V	NM_001001894	NP_001001894	P53804	TTC3_HUMAN			33	3927	+		Myeloproliferative disorder(46;0.0412)	1274					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Silent	SNP	ENST00000399017.2	37	c.3822C>G	CCDS13651.1																																																																																				0.458	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1			30	53	0	0	0	0	30	53				
CCT8L2	150160	broad.mit.edu	37	22	17072531	17072531	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr22:17072531G>A	ENST00000359963.3	-	1	1169	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	304					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCCAGTGTGAGGGTCTCCTCG	0.512																																						uc002zlp.1		NA																	0				ovary(1)	1						c.(910-912)CTC>TTC		T-complex protein 1							199.0	175.0	183.0					22																	17072531		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072531G>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.910C>T	22.37:g.17072531G>A	ENSP00000353048:p.Leu304Phe						p.L304F	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	1170	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	304					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.910C>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	12.76	2.033535	0.35893	.	.	ENSG00000198445	ENST00000359963	D	0.82255	-1.59	1.98	1.98	0.26296	.	0.265748	0.19846	U	0.104743	D	0.87704	0.6244	M	0.78049	2.395	0.09310	N	1	D	0.63046	0.992	D	0.66497	0.944	T	0.76408	-0.2970	10	0.39692	T	0.17	-8.7229	7.4423	0.27190	0.0:0.0:1.0:0.0	.	304	Q96SF2	TCPQM_HUMAN	F	304	ENSP00000353048:L304F	ENSP00000353048:L304F	L	-	1	0	CCT8L2	15452531	0.765000	0.28485	0.021000	0.16686	0.019000	0.09904	3.699000	0.54778	1.115000	0.41800	0.379000	0.24179	CTC		0.512	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			53	81	0	0	0	0	53	81				
SEC14L4	284904	broad.mit.edu	37	22	30891410	30891410	+	Missense_Mutation	SNP	G	G	A	rs145663781	byFrequency	TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr22:30891410G>A	ENST00000255858.7	-	5	337	c.254C>T	c.(253-255)tCg>tTg	p.S85L	RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000540456.1_Missense_Mutation_p.S70L|RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000381982.3_Missense_Mutation_p.S85L|SEC14L4_ENST00000392772.2_Missense_Mutation_p.S31L	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	85	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AAGACCACCCGAGTCATACAG	0.582																																						uc003aid.2		NA																	0				skin(1)	1						c.(253-255)TCG>TTG		SEC14p-like protein TAP3 isoform a	Vitamin E(DB00163)	G	LEU/SER,LEU/SER	2,4404	4.2+/-10.8	0,2,2201	92.0	83.0	86.0		254,254	4.9	0.0	22	dbSNP_134	86	0,8600		0,0,4300	yes	missense,missense	SEC14L4	NM_001161368.1,NM_174977.3	145,145	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	85/361,85/407	30891410	2,13004	2203	4300	6503	SO:0001583	missense	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30891410G>A	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.254C>T	22.37:g.30891410G>A	ENSP00000255858:p.Ser85Leu					SEC14L4_uc011akz.1_Missense_Mutation_p.S85L|SEC14L4_uc003aie.2_Missense_Mutation_p.S70L|SEC14L4_uc003aif.2_Missense_Mutation_p.S31L	p.S85L	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN			5	354	-			85			CRAL-TRIO.		A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	37	c.254C>T	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	g	16.83	3.232077	0.58777	4.54E-4	0.0	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	4.9	4.9	0.64082	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.323825	0.30126	N	0.010341	T	0.44477	0.1295	M	0.62088	1.915	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.997	P;P;P	0.56474	0.799;0.776;0.799	T	0.46289	-0.9202	10	0.87932	D	0	0.2002	18.0306	0.89282	0.0:0.0:1.0:0.0	.	31;70;85	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	L	85;70;31;85	ENSP00000255858:S85L;ENSP00000440848:S70L;ENSP00000376525:S31L;ENSP00000371412:S85L	ENSP00000255858:S85L	S	-	2	0	SEC14L4	29221410	1.000000	0.71417	0.004000	0.12327	0.068000	0.16541	9.267000	0.95665	2.403000	0.81681	0.655000	0.94253	TCG		0.582	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		25	44	0	0	0	0	25	44				
KIAA0930	23313	broad.mit.edu	37	22	45607844	45607844	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr22:45607844C>T	ENST00000336156.5	-	2	274	c.209G>A	c.(208-210)gGg>gAg	p.G70E	KIAA0930_ENST00000492273.1_Missense_Mutation_p.G75E|KIAA0930_ENST00000391627.2_Missense_Mutation_p.G36E|KIAA0930_ENST00000443310.3_Missense_Mutation_p.G52E|KIAA0930_ENST00000496226.1_Missense_Mutation_p.G79E|KIAA0930_ENST00000251993.7_Missense_Mutation_p.G75E	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	70										endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						CACCTTCCTCCCGTCTGCACC	0.617																																						uc003bfx.1		NA																	0					0						c.(208-210)GGG>GAG		hypothetical protein LOC23313 isoform b							66.0	72.0	70.0					22																	45607844		2203	4300	6503	SO:0001583	missense	23313						protein binding	g.chr22:45607844C>T	AK025608	CCDS33665.1, CCDS33666.1	22q13.31	2011-02-23	2011-02-23	2011-02-23	ENSG00000100364	ENSG00000100364			1314	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 9"""	C22orf9		10231032	Standard	NM_015264		Approved	bK268H5.C22.1	uc003bfw.1	Q6ICG6	OTTHUMG00000151263	ENST00000336156.5:c.209G>A	22.37:g.45607844C>T	ENSP00000336720:p.Gly70Glu					C22orf9_uc003bfv.1_Missense_Mutation_p.G79E|C22orf9_uc003bfw.1_Missense_Mutation_p.G75E|C22orf9_uc010gzx.2_Missense_Mutation_p.G52E	p.G70E	NM_001009880	NP_001009880	Q6ICG6	K0930_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024)	2	275	-		Ovarian(80;0.00965)|all_neural(38;0.0244)	70					B0QY17|B0QY19|B3KT48|Q6ZVE5|Q7Z6K9|Q8IZ76|Q9Y2E2	Missense_Mutation	SNP	ENST00000336156.5	37	c.209G>A	CCDS33665.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555543	0.65425	.	.	ENSG00000100364	ENST00000336156;ENST00000251993;ENST00000391627;ENST00000443310;ENST00000414854;ENST00000424508	.	.	.	5.33	3.16	0.36331	.	0.049946	0.85682	N	0.000000	T	0.67163	0.2864	L	0.58101	1.795	0.58432	D	0.999998	B;B;D;B	0.76494	0.0;0.013;0.999;0.059	B;B;D;B	0.70016	0.002;0.042;0.967;0.066	T	0.61893	-0.6969	9	0.22706	T	0.39	-16.8411	11.0472	0.47865	0.0:0.8006:0.1289:0.0705	.	52;70;75;141	B0AZU2;Q6ICG6;Q6ICG6-2;Q8IUY4	.;K0930_HUMAN;.;.	E	70;75;36;52;36;52	.	ENSP00000251993:G75E	G	-	2	0	KIAA0930	43986508	0.205000	0.23458	0.499000	0.27577	0.351000	0.29236	1.360000	0.34125	0.595000	0.29777	0.561000	0.74099	GGG		0.617	KIAA0930-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321975.2	NM_001009880		37	74	0	0	0	0	37	74				
SETD2	29072	broad.mit.edu	37	3	47163754	47163754	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr3:47163754G>C	ENST00000409792.3	-	3	2414	c.2372C>G	c.(2371-2373)tCa>tGa	p.S791*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	791					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTATATGTCTGAATCTTTGGT	0.358			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2		NA		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		0				kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.(2371-2373)TCA>TGA		SET domain containing 2							129.0	123.0	125.0					3																	47163754		2203	4300	6503	SO:0001587	stop_gained	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47163754G>C	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2372C>G	3.37:g.47163754G>C	ENSP00000386759:p.Ser791*					SETD2_uc003cqv.2_Nonsense_Mutation_p.S780*	p.S791*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	3	2425	-		Acute lymphoblastic leukemia(5;0.0169)	791					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	c.2372C>G	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	G	36	5.851419	0.97023	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	.	.	.	5.18	4.22	0.49857	.	0.448959	0.18965	N	0.126288	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	12.3712	0.55256	0.0892:0.0:0.9108:0.0	.	.	.	.	X	791;791;791;747	.	ENSP00000386759:S791X	S	-	2	0	SETD2	47138758	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	3.448000	0.52943	2.679000	0.91253	0.655000	0.94253	TCA		0.358	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		24	47	0	0	0	0	24	47				
NPHP3	27031	broad.mit.edu	37	3	132423041	132423041	+	Splice_Site	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr3:132423041C>T	ENST00000337331.5	-	9	1611		c.e9+1		NPHP3_ENST00000326682.8_Splice_Site|NPHP3_ENST00000476742.1_5'Flank	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)						atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAAGCACTTACTTTCTCAAAT	0.343																																						uc003epe.1		NA																	0				ovary(1)	1						c.e9+1		nephrocystin 3							144.0	142.0	143.0					3																	132423041		2203	4300	6503	SO:0001630	splice_region_variant	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132423041C>T	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.1524+1G>A	3.37:g.132423041C>T						NPHP3_uc003epf.1_Splice_Site_p.K263_splice	p.K508_splice	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			9	1601	-								Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Splice_Site	SNP	ENST00000337331.5	37	c.1524_splice	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516146	0.85495	.	.	ENSG00000113971	ENST00000326682;ENST00000337331	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9052	0.97004	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NPHP3	133905731	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.061000	0.76699	2.776000	0.95493	0.655000	0.94253	.		0.343	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240	Intron	37	66	0	0	0	0	37	66				
FNDC3B	64778	broad.mit.edu	37	3	172003763	172003763	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr3:172003763G>A	ENST00000336824.4	+	7	937	c.838G>A	c.(838-840)Gag>Aag	p.E280K	FNDC3B_ENST00000415807.2_Missense_Mutation_p.E280K|FNDC3B_ENST00000416957.1_Missense_Mutation_p.E280K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	280	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTCGGGAATAGAGAAACCACA	0.353																																						uc003fhy.2		NA																	0				ovary(2)|breast(1)	3						c.(838-840)GAG>AAG		fibronectin type III domain containing 3B							102.0	105.0	104.0					3																	172003763		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172003763G>A	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.838G>A	3.37:g.172003763G>A	ENSP00000338523:p.Glu280Lys					FNDC3B_uc003fhz.3_Missense_Mutation_p.E280K|FNDC3B_uc003fia.2_Missense_Mutation_p.E211K	p.E280K	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	7	1010	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		280			Fibronectin type-III 1.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.838G>A	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.504063	0.64410	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.57907	0.37;0.37;0.37	6.03	6.03	0.97812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.187313	0.56097	D	0.000022	T	0.60366	0.2263	M	0.76328	2.33	0.80722	D	1	P;B	0.44139	0.827;0.425	B;B	0.44133	0.442;0.229	T	0.55970	-0.8056	10	0.21014	T	0.42	-25.5643	20.5568	0.99304	0.0:0.0:1.0:0.0	.	280;280	Q53EP0-2;Q53EP0	.;FND3B_HUMAN	K	280	ENSP00000411242:E280K;ENSP00000338523:E280K;ENSP00000389094:E280K	ENSP00000338523:E280K	E	+	1	0	FNDC3B	173486457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.389000	0.90172	2.861000	0.98227	0.655000	0.94253	GAG		0.353	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763		15	38	0	0	0	0	15	38				
UGT2B10	7365	broad.mit.edu	37	4	69696413	69696413	+	Missense_Mutation	SNP	G	G	A	rs375571968		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr4:69696413G>A	ENST00000265403.7	+	6	1430	c.1403G>A	c.(1402-1404)cGc>cAc	p.R468H	UGT2B10_ENST00000458688.2_Missense_Mutation_p.R384H	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	468					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTTGTCATGCGCCACAAAGGA	0.448																																					Melanoma(133;755 1763 25578 26334 46021)	uc003hee.2		NA																	0				skin(3)|ovary(2)	5						c.(1402-1404)CGC>CAC		UDP glucuronosyltransferase 2B10 isoform 1		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	165.0	158.0	160.0		1151,1403	2.4	1.0	4		160	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UGT2B10	NM_001144767.1,NM_001075.4	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	384/445,468/529	69696413	1,13005	2203	4300	6503	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69696413G>A	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1403G>A	4.37:g.69696413G>A	ENSP00000265403:p.Arg468His					UGT2B10_uc011cam.1_Missense_Mutation_p.R384H	p.R468H	NM_001075	NP_001066	P36537	UDB10_HUMAN			6	1428	+			468					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.1403G>A		.	.	.	.	.	.	.	.	.	.	g	11.14	1.549761	0.27652	0.0	1.16E-4	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.72725	-0.68;-0.68	2.43	2.43	0.29744	.	0.000000	0.64402	U	0.000003	T	0.73048	0.3537	M	0.82716	2.605	0.29103	N	0.881351	P;B	0.48162	0.906;0.425	P;B	0.45343	0.477;0.178	T	0.72137	-0.4381	10	0.62326	D	0.03	.	10.2585	0.43412	0.0:0.0:1.0:0.0	.	384;468	B4DPP1;P36537	.;UDB10_HUMAN	H	468;384	ENSP00000265403:R468H;ENSP00000413420:R384H	ENSP00000265403:R468H	R	+	2	0	UGT2B10	69731002	1.000000	0.71417	0.998000	0.56505	0.099000	0.18886	6.547000	0.73892	1.194000	0.43101	0.194000	0.17425	CGC		0.448	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		39	60	0	0	0	0	39	60				
KLKB1	3818	broad.mit.edu	37	4	187171481	187171481	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr4:187171481G>A	ENST00000264690.6	+	7	870	c.683G>A	c.(682-684)cGg>cAg	p.R228Q	KLKB1_ENST00000513864.1_Missense_Mutation_p.R228Q	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	228	Apple 3. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTTGTGTGTCGGACCATCTGC	0.463																																						uc003iyy.2		NA																	0				ovary(1)	1						c.(682-684)CGG>CAG		plasma kallikrein B1 precursor							231.0	194.0	206.0					4																	187171481		2203	4300	6503	SO:0001583	missense	3818				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr4:187171481G>A	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.683G>A	4.37:g.187171481G>A	ENSP00000264690:p.Arg228Gln					KLKB1_uc011clc.1_Missense_Mutation_p.G16R|KLKB1_uc011cld.1_Missense_Mutation_p.R190Q	p.R228Q	NM_000892	NP_000883	P03952	KLKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)	7	754	+		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	228			Apple 3.		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	ENST00000264690.6	37	c.683G>A	CCDS34120.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	2.114|2.114	-0.403090|-0.403090	0.04865|0.04865	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	.|D;D	.|0.88509	.|-2.39;-2.39	5.21|5.21	2.01|2.01	0.26516|0.26516	.|Apple domain (3);PAN-1 domain (1);Apple-like (1);	.|0.481200	.|0.19144	.|N	.|0.121623	T|T	0.64638|0.64638	0.2616|0.2616	N|N	0.02129|0.02129	-0.67|-0.67	0.09310|0.09310	N|N	0.999998|0.999998	.|P;P	.|0.37330	.|0.504;0.59	.|B;B	.|0.27715	.|0.071;0.082	T|T	0.61431|0.61431	-0.7064|-0.7064	5|10	.|0.12103	.|T	.|0.63	.|.	8.5835|8.5835	0.33644|0.33644	0.4641:0.0:0.5359:0.0|0.4641:0.0:0.5359:0.0	.|.	.|190;228	.|E7EQA8;P03952	.|.;KLKB1_HUMAN	R|Q	276|228;228;190	.|ENSP00000264690:R228Q;ENSP00000424469:R228Q	.|ENSP00000264690:R228Q	G|R	+|+	1|2	0|0	KLKB1|KLKB1	187408475|187408475	0.773000|0.773000	0.28580|0.28580	0.130000|0.130000	0.21974|0.21974	0.013000|0.013000	0.08279|0.08279	1.149000|1.149000	0.31626|0.31626	0.167000|0.167000	0.19631|0.19631	0.550000|0.550000	0.68814|0.68814	GGA|CGG		0.463	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317732.1	NM_000892		26	67	0	0	0	0	26	67				
UGT3A1	133688	broad.mit.edu	37	5	35955843	35955843	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:35955843C>T	ENST00000274278.3	-	6	1556	c.1199G>A	c.(1198-1200)cGa>cAa	p.R400Q	UGT3A1_ENST00000503189.1_Missense_Mutation_p.R400Q|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.R366Q	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	400						integral component of membrane (GO:0016021)|UDP-N-acetylglucosamine transferase complex (GO:0043541)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.R400L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGCTACTACTCGGACCATGTT	0.483																																						uc003jjv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1198-1200)CGA>CAA		UDP glycosyltransferase 3 family, polypeptide A1							234.0	208.0	217.0					5																	35955843		2203	4300	6503	SO:0001583	missense	133688					integral to membrane	glucuronosyltransferase activity	g.chr5:35955843C>T		CCDS3913.1, CCDS54841.1	5p13.2	2014-05-20			ENSG00000145626	ENSG00000145626		"""UDP glucuronosyltransferases"""	26625	protein-coding gene	gene with protein product							Standard	NM_152404		Approved	FLJ34658	uc003jjv.2	Q6NUS8	OTTHUMG00000131107	ENST00000274278.3:c.1199G>A	5.37:g.35955843C>T	ENSP00000274278:p.Arg400Gln					UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.R400Q|UGT3A1_uc011cor.1_Missense_Mutation_p.R366Q	p.R400Q	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		6	1356	-	all_lung(31;0.000197)		400			Extracellular (Potential).		G5E961|Q8IYS9|Q8NAW4|Q96DM6	Missense_Mutation	SNP	ENST00000274278.3	37	c.1199G>A	CCDS3913.1	.	.	.	.	.	.	.	.	.	.	.	17.13	3.309895	0.60414	.	.	ENSG00000145626	ENST00000274278;ENST00000503189;ENST00000507113	T;T;T	0.64991	-0.13;-0.13;-0.13	3.97	-1.3	0.09259	.	0.000000	0.64402	U	0.000017	T	0.68550	0.3013	M	0.80422	2.495	0.09310	N	1	P;D;P	0.59767	0.924;0.986;0.954	B;P;P	0.54026	0.413;0.74;0.698	T	0.64626	-0.6363	10	0.72032	D	0.01	.	9.4947	0.38982	0.0:0.5688:0.0:0.4312	.	366;400;400	E9PD17;B7Z8Q8;Q6NUS8	.;.;UD3A1_HUMAN	Q	400;400;366	ENSP00000274278:R400Q;ENSP00000427079:R400Q;ENSP00000426100:R366Q	ENSP00000274278:R400Q	R	-	2	0	UGT3A1	35991600	0.000000	0.05858	0.000000	0.03702	0.801000	0.45260	0.694000	0.25512	-0.280000	0.09154	-0.373000	0.07131	CGA		0.483	UGT3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253770.2	NM_152404		23	50	0	0	0	0	23	50				
HCN1	348980	broad.mit.edu	37	5	45262411	45262411	+	Missense_Mutation	SNP	G	G	A	rs544168876		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:45262411G>A	ENST00000303230.4	-	8	2342	c.2285C>T	c.(2284-2286)aCg>aTg	p.T762M		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	762					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATTTTTCGGCGTGGAGCTGCC	0.647													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17487	0.0		0.0	False		,,,				2504	0.0					uc003jok.2		NA																	0				ovary(1)	1						c.(2284-2286)ACG>ATG		hyperpolarization activated cyclic							67.0	66.0	66.0					5																	45262411		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262411G>A	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2285C>T	5.37:g.45262411G>A	ENSP00000307342:p.Thr762Met						p.T762M	NM_021072	NP_066550	O60741	HCN1_HUMAN			8	2310	-			762			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000303230.4	37	c.2285C>T	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089056	0.55968	.	.	ENSG00000164588	ENST00000303230	T	0.80033	-1.33	5.32	5.32	0.75619	.	0.201627	0.34750	N	0.003705	T	0.67249	0.2873	N	0.08118	0	0.39675	D	0.970812	D	0.55385	0.971	B	0.42386	0.386	T	0.74979	-0.3479	10	0.49607	T	0.09	.	17.1903	0.86877	0.0:0.0:1.0:0.0	.	762	O60741	HCN1_HUMAN	M	762	ENSP00000307342:T762M	ENSP00000307342:T762M	T	-	2	0	HCN1	45298168	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.525000	0.81892	2.491000	0.84063	0.655000	0.94253	ACG		0.647	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		12	29	0	0	0	0	12	29				
RAD17	5884	broad.mit.edu	37	5	68682287	68682287	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:68682287A>G	ENST00000509734.1	+	10	1600	c.922A>G	c.(922-924)Aac>Gac	p.N308D	RAD17_ENST00000358030.2_Missense_Mutation_p.N132D|RAD17_ENST00000345306.6_Missense_Mutation_p.N297D|RAD17_ENST00000380774.3_Missense_Mutation_p.N308D|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000361732.2_Missense_Mutation_p.N297D|RAD17_ENST00000305138.4_Missense_Mutation_p.N297D|RAD17_ENST00000354868.5_Missense_Mutation_p.N297D|RAD17_ENST00000521422.1_Missense_Mutation_p.N132D|RAD17_ENST00000354312.3_Missense_Mutation_p.N297D|RAD17_ENST00000282891.6_Missense_Mutation_p.N211D			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	308					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TATAGAAGCTAACAAGGTAAG	0.284								Other conserved DNA damage response genes																														uc003jwo.2		NA																	0					0						c.(922-924)AAC>GAC	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	RAD17 homolog isoform 2							32.0	35.0	34.0					5																	68682287		2187	4259	6446	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68682287A>G	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.922A>G	5.37:g.68682287A>G	ENSP00000426191:p.Asn308Asp					RAD17_uc003jwg.2_Missense_Mutation_p.N297D|RAD17_uc003jwh.2_Missense_Mutation_p.N297D|RAD17_uc003jwi.2_Missense_Mutation_p.N297D|RAD17_uc003jwj.2_Missense_Mutation_p.N297D|RAD17_uc003jwk.2_Missense_Mutation_p.N297D|RAD17_uc003jwl.2_Missense_Mutation_p.N297D|RAD17_uc003jwm.2_Missense_Mutation_p.N132D|RAD17_uc003jwn.2_Missense_Mutation_p.N211D	p.N308D	NM_133339	NP_579917	O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	8	984	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	308					A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.922A>G	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	A	8.781	0.928185	0.18131	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774	T;T;T;T;T;T;T;T;T;T	0.23754	1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89;1.89	4.99	4.99	0.66335	.	0.500737	0.23367	N	0.048942	T	0.22859	0.0552	L	0.45581	1.43	0.32803	D	0.500348	B;B;B	0.26902	0.074;0.163;0.103	B;B;B	0.27380	0.079;0.047;0.047	T	0.20438	-1.0275	10	0.12430	T	0.62	-6.5308	13.9571	0.64155	1.0:0.0:0.0:0.0	.	308;211;297	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	D	297;308;297;132;297;297;297;211;132;308	ENSP00000355226:N297D;ENSP00000426191:N308D;ENSP00000346938:N297D;ENSP00000427743:N132D;ENSP00000346271:N297D;ENSP00000311227:N297D;ENSP00000303134:N297D;ENSP00000282891:N211D;ENSP00000350725:N132D;ENSP00000370151:N308D	ENSP00000282891:N211D	N	+	1	0	RAD17	68718043	0.989000	0.36119	1.000000	0.80357	0.667000	0.39255	4.468000	0.60162	1.998000	0.58463	0.377000	0.23210	AAC		0.284	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		8	16	0	0	0	0	8	16				
IQGAP2	10788	broad.mit.edu	37	5	75991296	75991296	+	Silent	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:75991296G>A	ENST00000274364.6	+	32	4308	c.4011G>A	c.(4009-4011)acG>acA	p.T1337T	IQGAP2_ENST00000379730.3_Silent_p.T839T|IQGAP2_ENST00000396234.3_Silent_p.T833T|IQGAP2_ENST00000502745.1_Silent_p.T833T|CTD-2384B11.2_ENST00000507514.1_RNA	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1337					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ACCATGCCACGGACATGGTGA	0.433																																						uc003kek.2		NA																	0				ovary(6)|central_nervous_system(1)	7						c.(4009-4011)ACG>ACA		IQ motif containing GTPase activating protein 2							72.0	65.0	67.0					5																	75991296		2203	4300	6503	SO:0001819	synonymous_variant	10788				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity	g.chr5:75991296G>A	U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.4011G>A	5.37:g.75991296G>A						IQGAP2_uc011csv.1_Silent_p.T833T|IQGAP2_uc003kel.2_Silent_p.T833T|IQGAP2_uc010izw.1_Silent_p.T38T	p.T1337T	NM_006633	NP_006624	Q13576	IQGA2_HUMAN		all cancers(79;1.38e-36)	32	4233	+		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)	1337					A8K4V1|B7Z8A4|J3KR91	Silent	SNP	ENST00000274364.6	37	c.4011G>A	CCDS34188.1																																																																																				0.433	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368877.1	NM_006633		12	27	0	0	0	0	12	27				
ARRDC3	57561	broad.mit.edu	37	5	90670932	90670932	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:90670932G>A	ENST00000265138.3	-	5	943	c.677C>T	c.(676-678)gCa>gTa	p.A226V	ARRDC3_ENST00000503192.1_5'Flank	NM_020801.2	NP_065852.1	Q96B67	ARRD3_HUMAN	arrestin domain containing 3	226					fat pad development (GO:0060613)|negative regulation of heat generation (GO:0031651)|negative regulation of locomotion involved in locomotory behavior (GO:0090327)|negative regulation of multicellular organismal metabolic process (GO:0044252)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|skin development (GO:0043588)|temperature homeostasis (GO:0001659)	endosome (GO:0005768)|plasma membrane (GO:0005886)	beta-3 adrenergic receptor binding (GO:0031699)			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		GTAAATGGCTGCCTTTGGCAC	0.418																																						uc003kjz.2		NA																	0				ovary(1)|breast(1)	2						c.(676-678)GCA>GTA		arrestin domain containing 3							86.0	73.0	77.0					5																	90670932		2203	4300	6503	SO:0001583	missense	57561				signal transduction	cytoplasm	protein binding	g.chr5:90670932G>A	AB037797	CCDS34202.1	5q14.3	2013-10-11			ENSG00000113369	ENSG00000113369			29263	protein-coding gene	gene with protein product	"""alpha-arrestin 3"""	612464				10718198, 19605364	Standard	NM_020801		Approved	KIAA1376	uc003kjz.2	Q96B67	OTTHUMG00000162616	ENST00000265138.3:c.677C>T	5.37:g.90670932G>A	ENSP00000265138:p.Ala226Val						p.A226V	NM_020801	NP_065852	Q96B67	ARRD3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)	5	917	-		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)	226					A8K6T8|Q9P2H1	Missense_Mutation	SNP	ENST00000265138.3	37	c.677C>T	CCDS34202.1	.	.	.	.	.	.	.	.	.	.	G	35	5.547273	0.96488	.	.	ENSG00000113369	ENST00000265138	T	0.14766	2.48	5.98	5.98	0.97165	Immunoglobulin E-set (1);Arrestin-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.18383	0.0441	L	0.58925	1.835	0.80722	D	1	P	0.36909	0.573	B	0.36666	0.23	T	0.03566	-1.1024	10	0.16420	T	0.52	-34.249	20.452	0.99131	0.0:0.0:1.0:0.0	.	226	Q96B67	ARRD3_HUMAN	V	226	ENSP00000265138:A226V	ENSP00000265138:A226V	A	-	2	0	ARRDC3	90706688	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.827000	0.99397	2.838000	0.97847	0.591000	0.81541	GCA		0.418	ARRDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369763.2	NM_020801		20	38	0	0	0	0	20	38				
NDST1	3340	broad.mit.edu	37	5	149901143	149901143	+	Silent	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:149901143C>T	ENST00000261797.6	+	2	829	c.327C>T	c.(325-327)ttC>ttT	p.F109F	NDST1_ENST00000523767.1_Silent_p.F109F	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	109	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGCCGCTTCAAATACCGCA	0.612																																						uc003lsk.3		NA																	0				breast(1)|skin(1)	2						c.(325-327)TTC>TTT		N-deacetylase/N-sulfotransferase (heparan							79.0	89.0	86.0					5																	149901143		2203	4300	6503	SO:0001819	synonymous_variant	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149901143C>T	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.327C>T	5.37:g.149901143C>T						NDST1_uc011dcj.1_Silent_p.F109F|NDST1_uc003lsl.2_Silent_p.F109F	p.F109F	NM_001543	NP_001534	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	829	+		all_hematologic(541;0.224)	109			Heparan sulfate N-deacetylase 1.|Lumenal (Potential).		Q96E57	Silent	SNP	ENST00000261797.6	37	c.327C>T	CCDS34277.1																																																																																				0.612	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		25	80	0	0	0	0	25	80				
GRIA1	2890	broad.mit.edu	37	5	153149755	153149755	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr5:153149755A>T	ENST00000285900.5	+	13	2393	c.2050A>T	c.(2050-2052)Atg>Ttg	p.M684L	GRIA1_ENST00000340592.5_Missense_Mutation_p.M684L|GRIA1_ENST00000518783.1_Missense_Mutation_p.M694L|GRIA1_ENST00000518142.1_Missense_Mutation_p.M604L|GRIA1_ENST00000521843.2_Missense_Mutation_p.M615L|GRIA1_ENST00000448073.4_Missense_Mutation_p.M694L	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	684					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GTTTGAGAAGATGTGGACATA	0.463																																						uc003lva.3		NA																	0				ovary(4)|skin(2)	6						c.(2050-2052)ATG>TTG		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						156.0	149.0	151.0					5																	153149755		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153149755A>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2050A>T	5.37:g.153149755A>T	ENSP00000285900:p.Met684Leu					GRIA1_uc003luy.3_Missense_Mutation_p.M684L|GRIA1_uc003luz.3_Missense_Mutation_p.M589L|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.M604L|GRIA1_uc011dcx.1_Missense_Mutation_p.M615L|GRIA1_uc011dcy.1_Missense_Mutation_p.M694L|GRIA1_uc011dcz.1_Missense_Mutation_p.M694L	p.M684L	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		13	2415	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	684			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2050A>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.414719	0.83449	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24;1.24;1.24	5.41	5.41	0.78517	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.60741	0.2292	M	0.76838	2.35	0.80722	D	1	P;P;D;P;D	0.69078	0.942;0.942;0.997;0.928;0.995	D;D;D;D;D	0.70227	0.96;0.96;0.966;0.933;0.968	T	0.66200	-0.5983	10	0.87932	D	0	.	14.6134	0.68531	1.0:0.0:0.0:0.0	.	694;694;604;684;684	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	L	684;684;604;638;684;617;615;694;694	ENSP00000285900:M684L;ENSP00000427920:M604L;ENSP00000339343:M684L;ENSP00000427864:M617L;ENSP00000442108:M615L;ENSP00000428994:M694L;ENSP00000415569:M694L	ENSP00000285900:M684L	M	+	1	0	GRIA1	153129948	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.125000	0.94402	2.042000	0.60477	0.533000	0.62120	ATG		0.463	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			33	62	0	0	0	0	33	62				
SNRNP48	154007	broad.mit.edu	37	6	7601664	7601664	+	Missense_Mutation	SNP	G	G	A	rs141422613		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:7601664G>A	ENST00000342415.5	+	5	561	c.502G>A	c.(502-504)Gta>Ata	p.V168I		NM_152551.3	NP_689764.3	Q6IEG0	SNR48_HUMAN	small nuclear ribonucleoprotein 48kDa (U11/U12)	168					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	U12-type spliceosomal complex (GO:0005689)	metal ion binding (GO:0046872)			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CTATGATTTCGTAGTTGAGGA	0.378																																						uc003mxr.2		NA																	0					0						c.(502-504)GTA>ATA		U11/U12 snRNP 48K		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	103.0	100.0	101.0		502	5.9	1.0	6	dbSNP_134	101	0,8600		0,0,4300	no	missense	SNRNP48	NM_152551.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	168/340	7601664	1,13005	2203	4300	6503	SO:0001583	missense	154007				mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding	g.chr6:7601664G>A	AK056796	CCDS4502.1	6p24.3	2011-10-11	2008-10-29	2008-10-29	ENSG00000168566	ENSG00000168566			21368	protein-coding gene	gene with protein product	"""U11/U12 snRNP 48K"""		"""chromosome 6 open reading frame 151"""	C6orf151		15146077	Standard	XR_427825		Approved	FLJ32234, dJ512B11.2, dJ336K20B.1	uc003mxr.3	Q6IEG0	OTTHUMG00000014213	ENST00000342415.5:c.502G>A	6.37:g.7601664G>A	ENSP00000339834:p.Val168Ile					SNRNP48_uc003mxs.2_RNA	p.V168I	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN			5	561	+			168					A8K8P4|Q14C91|Q5T339|Q5THM1|Q5THM2|Q96MK1	Missense_Mutation	SNP	ENST00000342415.5	37	c.502G>A	CCDS4502.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153443	0.94645	2.27E-4	0.0	ENSG00000168566	ENST00000342415	T	0.38560	1.13	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.52289	0.1725	L	0.59436	1.845	0.51767	D	0.99993	D	0.76494	0.999	D	0.72982	0.979	T	0.30504	-0.9976	10	0.27082	T	0.32	-15.1815	17.8657	0.88794	0.0:0.0:1.0:0.0	.	168	Q6IEG0	SNR48_HUMAN	I	168	ENSP00000339834:V168I	ENSP00000339834:V168I	V	+	1	0	SNRNP48	7546663	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	6.457000	0.73505	2.826000	0.97356	0.491000	0.48974	GTA		0.378	SNRNP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039787.3	NM_152551		23	32	0	0	0	0	23	32				
HLA-DQA2	3118	broad.mit.edu	37	6	32714066	32714066	+	Silent	SNP	C	C	T	rs572758897		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:32714066C>T	ENST00000374940.3	+	4	765	c.663C>T	c.(661-663)tgC>tgT	p.C221C		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	221					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	CTTTGGTCTGCGCCCTGGGGT	0.552													.|||	1	0.000199681	0.0	0.0	5008	,	,		21667	0.0		0.0	False		,,,				2504	0.001					uc003obx.2		NA																	0					0						c.(661-663)TGC>TGT		major histocompatibility complex, class II, DQ	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						163.0	160.0	161.0					6																	32714066		1511	2709	4220	SO:0001819	synonymous_variant	3118				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32714066C>T		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.663C>T	6.37:g.32714066C>T							p.C221C	NM_020056	NP_064440	P01906	DQA2_HUMAN			4	721	+			221			Helical; (Potential).		A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	ENST00000374940.3	37	c.663C>T	CCDS4753.1																																																																																				0.552	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056		28	57	0	0	0	0	28	57				
ZNF318	24149	broad.mit.edu	37	6	43306213	43306213	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:43306213C>A	ENST00000361428.2	-	10	5600	c.5523G>T	c.(5521-5523)ttG>ttT	p.L1841F	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1841					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTCCTGTCATCAATTTATTGG	0.378																																						uc003oux.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7						c.(5521-5523)TTG>TTT		zinc finger protein 318							123.0	115.0	118.0					6																	43306213		2203	4300	6503	SO:0001583	missense	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43306213C>A	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.5523G>T	6.37:g.43306213C>A	ENSP00000354964:p.Leu1841Phe					ZNF318_uc003ouw.2_Intron	p.L1841F	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	5601	-			1841					O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	ENST00000361428.2	37	c.5523G>T	CCDS4895.2	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813739	0.50527	.	.	ENSG00000171467	ENST00000361428	T	0.18810	2.19	5.84	0.922	0.19408	.	0.509224	0.16684	N	0.203810	T	0.13798	0.0334	L	0.32530	0.975	0.22378	N	0.999151	D	0.71674	0.998	D	0.69142	0.962	T	0.06127	-1.0844	10	0.56958	D	0.05	0.1119	5.3173	0.15862	0.0:0.498:0.2785:0.2235	.	1841	Q5VUA4	ZN318_HUMAN	F	1841	ENSP00000354964:L1841F	ENSP00000354964:L1841F	L	-	3	2	ZNF318	43414191	0.595000	0.26857	0.036000	0.18154	0.898000	0.52572	0.648000	0.24828	-0.043000	0.13513	0.650000	0.86243	TTG		0.378	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		28	39	1	0	2.49e-11	2.78e-11	28	39				
PTCHD4	442213	broad.mit.edu	37	6	47846396	47846396	+	Silent	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:47846396G>A	ENST00000339488.4	-	3	2217	c.2184C>T	c.(2182-2184)caC>caT	p.H728H		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	728						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GTGGTGCACAGTGGTCAATGG	0.438																																						uc011dwm.1		NA																	0				central_nervous_system(1)	1						c.(2131-2133)CAC>CAT		hypothetical protein LOC442213							103.0	95.0	98.0					6																	47846396		2203	4300	6503	SO:0001819	synonymous_variant	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846396G>A		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2184C>T	6.37:g.47846396G>A						C6orf138_uc011dwn.1_Silent_p.H475H	p.H711H	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	2218	-			728			Helical; (Potential).		B0QZ29|B4DRK3|Q5T884	Silent	SNP	ENST00000339488.4	37	c.2133C>T	CCDS34473.2																																																																																				0.438	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		8	11	0	0	0	0	8	11				
DOPEY1	23033	broad.mit.edu	37	6	83845504	83845504	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:83845504C>T	ENST00000349129.2	+	20	3297	c.3037C>T	c.(3037-3039)Cgt>Tgt	p.R1013C	DOPEY1_ENST00000369739.3_Missense_Mutation_p.R1004C|DOPEY1_ENST00000237163.5_Missense_Mutation_p.R994C	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1013					protein transport (GO:0015031)			p.R1013C(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TTCAGTACAGCGTGTACAAGC	0.433																																						uc003pjs.1		NA																	1	Substitution - Missense(1)		breast(1)	ovary(2)|breast(1)|central_nervous_system(1)	4						c.(3037-3039)CGT>TGT		dopey family member 1							144.0	130.0	135.0					6																	83845504		2203	4299	6502	SO:0001583	missense	23033				protein transport			g.chr6:83845504C>T	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3037C>T	6.37:g.83845504C>T	ENSP00000195654:p.Arg1013Cys					DOPEY1_uc011dyy.1_Missense_Mutation_p.R1004C|DOPEY1_uc010kbl.1_Missense_Mutation_p.R1004C|DOPEY1_uc003pjt.2_5'Flank	p.R1013C	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	20	3297	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	1013					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	c.3037C>T	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737367	0.69304	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.15256	2.44;2.44	5.55	5.55	0.83447	.	0.101437	0.64402	D	0.000004	T	0.15478	0.0373	N	0.21142	0.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;P;P	0.66602	0.945;0.791;0.791	T	0.04693	-1.0933	10	0.31617	T	0.26	.	13.0718	0.59066	0.2808:0.7192:0.0:0.0	.	904;1004;1013	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	C	1013;994;994	ENSP00000195654:R1013C;ENSP00000237163:R994C	ENSP00000237163:R994C	R	+	1	0	DOPEY1	83902223	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.064000	0.30579	2.603000	0.88011	0.655000	0.94253	CGT		0.433	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		40	62	0	0	0	0	40	62				
LATS1	9113	broad.mit.edu	37	6	150005729	150005729	+	Splice_Site	SNP	C	C	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:150005729C>T	ENST00000543571.1	-	4	1044		c.e4-1		LATS1_ENST00000253339.5_Splice_Site|LATS1_ENST00000542747.1_Splice_Site|LATS1_ENST00000392273.3_Splice_Site	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TGCACATTCCCTATGGTTATA	0.383																																						uc003qmu.1		NA																	0				lung(5)|central_nervous_system(1)	6						c.e4-1		LATS homolog 1							76.0	82.0	80.0					6																	150005729		2203	4300	6503	SO:0001630	splice_region_variant	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150005729C>T	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.497-1G>A	6.37:g.150005729C>T						LATS1_uc010kif.1_Splice_Site_p.G61_splice|LATS1_uc003qmv.1_Splice_Site_p.G166_splice|LATS1_uc003qmw.2_Intron|LATS1_uc010kig.1_Intron	p.G166_splice	NM_004690	NP_004681	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	4	1045	-		Ovarian(120;0.0164)							Splice_Site	SNP	ENST00000543571.1	37	c.497_splice	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522444	0.27211	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273;ENST00000458696	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5869	0.87984	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LATS1	150047422	1.000000	0.71417	0.987000	0.45799	0.506000	0.33950	4.714000	0.61902	2.382000	0.81193	0.557000	0.71058	.		0.383	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690	Intron	18	33	0	0	0	0	18	33				
C7orf57	136288	broad.mit.edu	37	7	48080963	48080963	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr7:48080963G>A	ENST00000348904.3	+	3	300	c.88G>A	c.(88-90)Gag>Aag	p.E30K	C7orf57_ENST00000420324.1_Missense_Mutation_p.E75K|C7orf57_ENST00000539619.1_Missense_Mutation_p.E30K|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000430738.1_Missense_Mutation_p.E75K	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	30										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GAAGCGCTCTGAGAAGGCCGT	0.587																																						uc003toh.3		NA																	0				ovary(1)	1						c.(88-90)GAG>AAG		hypothetical protein LOC136288							52.0	56.0	55.0					7																	48080963		1944	4140	6084	SO:0001583	missense	136288							g.chr7:48080963G>A	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.88G>A	7.37:g.48080963G>A	ENSP00000335500:p.Glu30Lys					C7orf57_uc003toi.3_5'UTR	p.E30K	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN			3	300	+			30					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.88G>A	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968050	0.74131	.	.	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.69	5.69	0.88448	.	0.127778	0.53938	D	0.000059	T	0.54334	0.1852	L	0.49126	1.545	0.44373	D	0.99727	D	0.55385	0.971	P	0.55749	0.783	T	0.55029	-0.8204	10	0.72032	D	0.01	-22.7788	17.2972	0.87173	0.0:0.0:1.0:0.0	.	30	Q8NEG2	CG057_HUMAN	K	75;75;30;30	ENSP00000394648:E75K;ENSP00000410944:E75K;ENSP00000335500:E30K;ENSP00000442474:E30K	ENSP00000335500:E30K	E	+	1	0	C7orf57	48047488	1.000000	0.71417	0.972000	0.41901	0.084000	0.17831	4.489000	0.60309	2.670000	0.90874	0.563000	0.77884	GAG		0.587	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		9	25	0	0	0	0	9	25				
GRM3	2913	broad.mit.edu	37	7	86415775	86415775	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr7:86415775G>A	ENST00000361669.2	+	3	1766	c.667G>A	c.(667-669)Ggg>Agg	p.G223R	GRM3_ENST00000394720.2_Missense_Mutation_p.G221R|AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.G223R|GRM3_ENST00000536043.1_Missense_Mutation_p.G95R	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	223					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GGGTGATTACGGGGAGACAGG	0.612																																					GBM(52;969 1098 3139 52280)	uc003uid.2		NA																	0				lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(667-669)GGG>AGG		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						69.0	62.0	64.0					7																	86415775		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415775G>A		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.667G>A	7.37:g.86415775G>A	ENSP00000355316:p.Gly223Arg					GRM3_uc010lef.2_Missense_Mutation_p.G221R|GRM3_uc010leg.2_Missense_Mutation_p.G95R|GRM3_uc010leh.2_Intron	p.G223R	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	1766	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		223			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.667G>A	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.015709	0.75161	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0;-3.0	5.72	4.84	0.62591	Extracellular ligand-binding receptor (1);	0.047973	0.85682	N	0.000000	D	0.96907	0.8990	M	0.93678	3.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97660	1.0160	10	0.87932	D	0	.	13.8114	0.63266	0.0733:0.0:0.9267:0.0	.	95;223;223	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	R	223;95;95;223;221	ENSP00000355316:G223R;ENSP00000405427:G95R;ENSP00000441407:G95R;ENSP00000398767:G223R;ENSP00000378209:G221R	ENSP00000355316:G223R	G	+	1	0	GRM3	86253711	1.000000	0.71417	0.596000	0.28811	0.759000	0.43091	9.756000	0.98918	1.430000	0.47334	0.655000	0.94253	GGG		0.612	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			26	42	0	0	0	0	26	42				
PTDSS1	9791	broad.mit.edu	37	8	97311963	97311963	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr8:97311963G>A	ENST00000517309.1	+	6	968	c.642G>A	c.(640-642)tgG>tgA	p.W214*	PTDSS1_ENST00000518776.1_3'UTR|PTDSS1_ENST00000522072.1_Nonsense_Mutation_p.W11*|PTDSS1_ENST00000455950.2_Nonsense_Mutation_p.W68*	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	214					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CCGAGTGCTGGTGGGATCAAG	0.493																																						uc003yht.1		NA																	0				ovary(1)	1						c.(640-642)TGG>TGA		phosphatidylserine synthase 1	Phosphatidylserine(DB00144)						228.0	205.0	213.0					8																	97311963		2203	4300	6503	SO:0001587	stop_gained	9791				phosphatidylserine biosynthetic process	integral to membrane	transferase activity	g.chr8:97311963G>A	D14694	CCDS6271.1	8q22	2008-05-02			ENSG00000156471	ENSG00000156471			9587	protein-coding gene	gene with protein product		612792					Standard	NM_014754		Approved	KIAA0024, PSSA, PSS1	uc003yht.1	P48651	OTTHUMG00000164687	ENST00000517309.1:c.642G>A	8.37:g.97311963G>A	ENSP00000430548:p.Trp214*					PTDSS1_uc003yhu.1_Nonsense_Mutation_p.W68*	p.W214*	NM_014754	NP_055569	P48651	PTSS1_HUMAN			6	744	+	Breast(36;6.18e-05)		214					E5RFC5|Q9BUQ5	Nonsense_Mutation	SNP	ENST00000517309.1	37	c.642G>A	CCDS6271.1	.	.	.	.	.	.	.	.	.	.	G	40	8.378579	0.98784	.	.	ENSG00000156471	ENST00000517309;ENST00000455950;ENST00000522072	.	.	.	5.62	4.74	0.60224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4689	14.388	0.66958	0.0:0.0:0.8524:0.1476	.	.	.	.	X	214;68;11	.	ENSP00000401248:W68X	W	+	3	0	PTDSS1	97381139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	1.366000	0.46076	0.650000	0.86243	TGG		0.493	PTDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379743.2			47	68	0	0	0	0	47	68				
SPATA31D1	389763	broad.mit.edu	37	9	84609395	84609395	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr9:84609395C>G	ENST00000344803.2	+	4	4057	c.4010C>G	c.(4009-4011)tCc>tGc	p.S1337C		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1337					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AGCAAATCTTCCCCAACCTTG	0.478																																						uc004amn.2		NA																	0					0						c.(4009-4011)TCC>TGC		hypothetical protein LOC389763							22.0	22.0	22.0					9																	84609395		1896	4099	5995	SO:0001583	missense	389763					integral to membrane		g.chr9:84609395C>G		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.4010C>G	9.37:g.84609395C>G	ENSP00000341988:p.Ser1337Cys						p.S1337C	NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN			4	4057	+			1337						Missense_Mutation	SNP	ENST00000344803.2	37	c.4010C>G	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	5.307	0.241936	0.10077	.	.	ENSG00000214929	ENST00000344803	T	0.06687	3.27	3.08	-0.153	0.13403	.	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.09310	N	1	P	0.35844	0.524	B	0.32465	0.146	T	0.39722	-0.9600	9	0.56958	D	0.05	-0.674	5.0878	0.14693	0.0:0.4529:0.4181:0.129	.	1337	Q6ZQQ2	F75D1_HUMAN	C	1337	ENSP00000341988:S1337C	ENSP00000341988:S1337C	S	+	2	0	FAM75D1	83799215	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.265000	0.18515	-0.015000	0.14150	-0.140000	0.14226	TCC		0.478	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		5	9	0	0	0	0	5	9				
FAM47B	170062	broad.mit.edu	37	X	34962352	34962352	+	Nonsense_Mutation	SNP	G	G	A	rs367947257		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chrX:34962352G>A	ENST00000329357.5	+	1	1440	c.1404G>A	c.(1402-1404)tgG>tgA	p.W468*		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	468										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ACTTCAAGTGGGCTGGAGACC	0.433																																						uc004ddi.1		NA																	0				ovary(3)|breast(1)	4						c.(1402-1404)TGG>TGA		hypothetical protein LOC170062							128.0	117.0	121.0					X																	34962352		2202	4297	6499	SO:0001587	stop_gained	170062							g.chrX:34962352G>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1404G>A	X.37:g.34962352G>A	ENSP00000328307:p.Trp468*						p.W468*	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	1422	+			468					Q5JQN5|Q6PIG3	Nonsense_Mutation	SNP	ENST00000329357.5	37	c.1404G>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963443	0.34659	.	.	ENSG00000189132	ENST00000329357	.	.	.	0.235	0.235	0.15431	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	468	.	ENSP00000328307:W468X	W	+	3	0	FAM47B	34872273	0.005000	0.15991	0.004000	0.12327	0.004000	0.04260	0.362000	0.20284	0.288000	0.22398	0.292000	0.19580	TGG		0.433	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		4	45	0	0	0	0	4	45				
ELF4	2000	broad.mit.edu	37	X	129201147	129201147	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chrX:129201147G>A	ENST00000308167.5	-	9	1920	c.1541C>T	c.(1540-1542)tCt>tTt	p.S514F	ELF4_ENST00000335997.7_Missense_Mutation_p.S514F	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGGGGGCTGAGAGCTGGGCCC	0.642			T	ERG	AML																																	uc004evd.3		NA		Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				ovary(1)	1						c.(1540-1542)TCT>TTT		E74-like factor 4							27.0	29.0	29.0					X																	129201147		2201	4291	6492	SO:0001583	missense	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129201147G>A	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1541C>T	X.37:g.129201147G>A	ENSP00000311280:p.Ser514Phe					ELF4_uc004eve.3_Missense_Mutation_p.S514F	p.S514F	NM_001421	NP_001412	Q99607	ELF4_HUMAN			9	1926	-			514						Missense_Mutation	SNP	ENST00000308167.5	37	c.1541C>T	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	g	17.11	3.305036	0.60305	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.25085	1.82;1.82	4.24	4.24	0.50183	.	0.352028	0.25897	N	0.027589	T	0.21841	0.0526	L	0.29908	0.895	0.32327	N	0.561644	P	0.48407	0.91	B	0.44315	0.446	T	0.27673	-1.0067	10	0.87932	D	0	.	10.9562	0.47358	0.0:0.0:1.0:0.0	.	514	Q99607	ELF4_HUMAN	F	514	ENSP00000338608:S514F;ENSP00000311280:S514F	ENSP00000311280:S514F	S	-	2	0	ELF4	129028828	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.193000	0.50997	1.954000	0.56735	0.509000	0.49947	TCT		0.642	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		24	10	0	0	0	0	24	10				
ITSN2	50618	broad.mit.edu	37	2	24471709	24471710	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr2:24471709_24471710insT	ENST00000355123.4	-	26	3605_3606	c.3162_3163insA	c.(3160-3165)aaacctfs	p.P1055fs	ITSN2_ENST00000406921.3_Frame_Shift_Ins_p.P1055fs|ITSN2_ENST00000361999.3_Frame_Shift_Ins_p.P1028fs	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1055	SH3 4. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACGTACCAGGTTTTTTATTTG	0.342																																						uc002rfe.2		NA																	0				kidney(2)|ovary(1)|central_nervous_system(1)	4						c.(3160-3165)AAACCTfs		intersectin 2 isoform 1																																				SO:0001589	frameshift_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24471709_24471710insT	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3163dupA	2.37:g.24471715_24471715dupT	ENSP00000347244:p.Pro1055fs					ITSN2_uc002rff.2_Frame_Shift_Ins_p.K1027fs|ITSN2_uc002rfg.2_Frame_Shift_Ins_p.K1054fs|ITSN2_uc002rfh.1_RNA	p.K1054fs	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN			26	3420_3421	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1054_1055			SH3 4.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Frame_Shift_Ins	INS	ENST00000355123.4	37	c.3162_3163insA	CCDS1710.2																																																																																				0.342	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		24	70	NA	NA	NA	NA	24	70	---	---	---	---
ELF2	1998	broad.mit.edu	37	4	139980327	139980327	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr4:139980327delT	ENST00000394235.2	-	10	2058	c.1556delA	c.(1555-1557)aagfs	p.K519fs	ELF2_ENST00000379550.1_Frame_Shift_Del_p.K531fs|ELF2_ENST00000358635.3_Frame_Shift_Del_p.K471fs|ELF2_ENST00000515489.1_Intron|ELF2_ENST00000510408.1_Frame_Shift_Del_p.K459fs|ELF2_ENST00000379549.2_Frame_Shift_Del_p.K442fs|ELF2_ENST00000265495.4_Frame_Shift_Del_p.K519fs	NM_001276458.1	NP_001263387.1			E74-like factor 2 (ets domain transcription factor)											endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CTCTGGCCCCTTTATGACTGC	0.448																																						uc003ihp.1		NA																	0				ovary(1)|skin(1)	2						c.(1555-1557)AAGfs		E74-like factor 2 (ets domain transcription							172.0	174.0	173.0					4																	139980327		2203	4300	6503	SO:0001589	frameshift_variant	1998				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity	g.chr4:139980327delT	AF256222	CCDS3744.1, CCDS3745.1, CCDS64062.1, CCDS64063.1	4q28	2008-02-05			ENSG00000109381	ENSG00000109381			3317	protein-coding gene	gene with protein product						8756667	Standard	NM_201999		Approved	EU32, NERF, NERF-2, NERF-1A, NERF-1B	uc003ihm.2	Q15723	OTTHUMG00000133383	ENST00000394235.2:c.1556delA	4.37:g.139980327delT	ENSP00000377782:p.Lys519fs					ELF2_uc003ihm.1_Frame_Shift_Del_p.K471fs|ELF2_uc003ihn.1_Frame_Shift_Del_p.K459fs|ELF2_uc003iho.1_Frame_Shift_Del_p.K442fs|ELF2_uc011chc.1_Frame_Shift_Del_p.K334fs	p.K519fs	NM_201999	NP_973728	Q15723	ELF2_HUMAN			9	1762	-	all_hematologic(180;0.162)		531						Frame_Shift_Del	DEL	ENST00000394235.2	37	c.1556delA	CCDS3744.1																																																																																				0.448	ELF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257233.2	NM_006874		63	144	NA	NA	NA	NA	63	144	---	---	---	---
HLA-B	3106	broad.mit.edu	37	6	31323136	31323137	+	Frame_Shift_Ins	INS	-	-	ATGG	rs41551415|rs281864644		TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:31323136_31323137insATGG	ENST00000412585.2	-	4	880_881	c.852_853insCCAT	c.(850-855)catgtafs	p.V285fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	285	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCATGCTGTACATGGCATGTGT	0.564									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													uc003nth.2		NA																	0					0						c.(850-855)CATGTAfs		major histocompatibility complex, class I, B																																				SO:0001589	frameshift_variant	3106	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of	Familial Cancer Database	;Lichen Sclerosis, Familial	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 plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:31323136_31323137insATGG	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.849_852dupCCAT	6.37:g.31323137_31323140dupATGG	ENSP00000399168:p.Val285fs					HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Frame_Shift_Ins_p.H163fs|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA	p.H284fs	NM_005514	NP_005505	P01889	1B07_HUMAN			4	906_907	-			284_285			Alpha-3.|Ig-like C1-type.|Extracellular (Potential).		Q29764	Frame_Shift_Ins	INS	ENST00000412585.2	37	c.852_853insCCAT	CCDS34394.1																																																																																				0.564	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		8	42	NA	NA	NA	NA	8	42	---	---	---	---
DST	667	broad.mit.edu	37	6	56496014	56496017	+	Frame_Shift_Del	DEL	TATG	TATG	-			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:56496014_56496017delTATG	ENST00000361203.3	-	26	3508_3511	c.3501_3504delCATA	c.(3499-3504)tacatafs	p.YI1167fs	DST_ENST00000244364.6_Frame_Shift_Del_p.YI841fs|DST_ENST00000312431.6_Frame_Shift_Del_p.YI1167fs|DST_ENST00000518935.1_Frame_Shift_Del_p.YI841fs|DST_ENST00000421834.2_Frame_Shift_Del_p.YI1167fs|DST_ENST00000370765.6_Frame_Shift_Del_p.YI841fs|DST_ENST00000370788.2_Frame_Shift_Del_p.YI1167fs|DST_ENST00000370769.4_Frame_Shift_Del_p.YI1167fs|DST_ENST00000370754.5_Frame_Shift_Del_p.YI1345fs|DST_ENST00000446842.2_Frame_Shift_Del_p.YI841fs			Q03001	DYST_HUMAN	dystonin	1167					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATACTTATCTATGTAAGTGGAAG	0.304																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(4033-4038)TACATAfs		dystonin isoform 2																																				SO:0001589	frameshift_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56496014_56496017delTATG	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3501_3504delCATA	6.37:g.56496014_56496017delTATG	ENSP00000354508:p.Tyr1167fs					DST_uc003pcz.3_Frame_Shift_Del_p.Y1167fs|DST_uc011dxj.1_Frame_Shift_Del_p.Y1196fs|DST_uc011dxk.1_Frame_Shift_Del_p.Y1207fs|DST_uc003pcy.3_Frame_Shift_Del_p.Y841fs|DST_uc003pdb.2_Frame_Shift_Del_p.Y841fs|DST_uc003pdc.3_Frame_Shift_Del_p.Y841fs|DST_uc003pdd.3_Frame_Shift_Del_p.Y841fs	p.Y1345fs	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		29	4063_4066	-	Lung NSC(77;0.103)		1167_1168					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Del	DEL	ENST00000361203.3	37	c.4035_4038delCATA																																																																																					0.304	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		15	47	NA	NA	NA	NA	15	47	---	---	---	---
DST	667	broad.mit.edu	37	6	56496801	56496802	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CQ-5324-01A-01D-1683-08	TCGA-CQ-5324-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	67b184fe-c4f4-49f3-938e-5370eb6246b9	a635afcc-e437-4cc7-80ff-b710698cfde3	g.chr6:56496801_56496802delAG	ENST00000361203.3	-	25	3216_3217	c.3209_3210delCT	c.(3208-3210)tctfs	p.S1070fs	DST_ENST00000244364.6_Frame_Shift_Del_p.S744fs|DST_ENST00000312431.6_Frame_Shift_Del_p.S1070fs|DST_ENST00000518935.1_Frame_Shift_Del_p.S744fs|DST_ENST00000421834.2_Frame_Shift_Del_p.S1070fs|DST_ENST00000370765.6_Frame_Shift_Del_p.S744fs|DST_ENST00000370788.2_Frame_Shift_Del_p.S1070fs|DST_ENST00000370769.4_Frame_Shift_Del_p.S1070fs|DST_ENST00000370754.5_Frame_Shift_Del_p.S1248fs|DST_ENST00000446842.2_Frame_Shift_Del_p.S744fs			Q03001	DYST_HUMAN	dystonin	1070					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCGAACTTCAGAGATGTAGAG	0.361																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(3742-3744)TCTfs		dystonin isoform 2																																				SO:0001589	frameshift_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56496801_56496802delAG	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3209_3210delCT	6.37:g.56496803_56496804delAG	ENSP00000354508:p.Ser1070fs					DST_uc003pcz.3_Frame_Shift_Del_p.S1070fs|DST_uc011dxj.1_Frame_Shift_Del_p.S1099fs|DST_uc011dxk.1_Frame_Shift_Del_p.S1110fs|DST_uc003pcy.3_Frame_Shift_Del_p.S744fs|DST_uc003pdb.2_Frame_Shift_Del_p.S744fs|DST_uc003pdc.3_Frame_Shift_Del_p.S744fs|DST_uc003pdd.3_Frame_Shift_Del_p.S744fs	p.S1248fs	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		28	3771_3772	-	Lung NSC(77;0.103)		1070					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Del	DEL	ENST00000361203.3	37	c.3743_3744delCT																																																																																					0.361	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		17	37	NA	NA	NA	NA	17	37	---	---	---	---
