#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MTERF4	130916	broad.mit.edu	37	2	242038854	242038854	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:242038854C>G	ENST00000391980.2	-	2	535	c.477G>C	c.(475-477)atG>atC	p.M159I	MTERFD2_ENST00000495694.1_Missense_Mutation_p.M159I|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Missense_Mutation_p.M159I|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		159					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		AGCGCTTCCTCATTTGCATAA	0.458																																						ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(475-477)atG>atC		MTERF domain containing 2							107.0	107.0	107.0					2																	242038854		2203	4300	6503	SO:0001583	missense	130916							g.chr2:242038854C>G																												ENST00000391980.2:c.477G>C	2.37:g.242038854C>G	ENSP00000375840:p.Met159Ile					MTERFD2_ENST00000495694.1_Missense_Mutation_p.M159I|MTERFD2_ENST00000407095.3_Missense_Mutation_p.M159I|MTERFD2_ENST00000406593.1_Intron	p.M159I	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	2	535	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	159					A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	c.477G>C	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	C	6.019	0.371947	0.11409	.	.	ENSG00000122085	ENST00000495694;ENST00000401626;ENST00000391980;ENST00000424798;ENST00000407095;ENST00000434791	T;T;T;T;T;T	0.49432	0.78;0.84;2.93;2.93;2.93;0.87	4.71	2.91	0.33838	.	0.492431	0.19880	N	0.103999	T	0.37598	0.1009	M	0.63428	1.95	0.09310	N	1	B;B	0.18461	0.011;0.028	B;B	0.15484	0.009;0.013	T	0.28299	-1.0048	10	0.12766	T	0.61	-7.7288	5.9928	0.19476	0.0:0.6698:0.1562:0.174	.	159;159	B4DKD5;Q7Z6M4	.;MTER2_HUMAN	I	159;159;159;152;159;138	ENSP00000419315:M159I;ENSP00000385183:M159I;ENSP00000375840:M159I;ENSP00000409023:M152I;ENSP00000385630:M159I;ENSP00000393063:M138I	ENSP00000241527:M159I	M	-	3	0	MTERFD2	241687527	0.835000	0.29415	0.027000	0.17364	0.193000	0.23685	0.718000	0.25866	0.539000	0.28788	0.591000	0.81541	ATG		0.458	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			19	77	0	0	0	1	0	19	77				
KRT14	3861	broad.mit.edu	37	17	39739591	39739591	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:39739591C>T	ENST00000167586.6	-	6	1256	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	390	Coil 2.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GCTGCTCCATCTCGCAGCGGA	0.637																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(1168-1170)gaG>gaA		keratin 14							51.0	50.0	50.0					17																	39739591		2203	4300	6503	SO:0001819	synonymous_variant	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39739591C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1170G>A	17.37:g.39739591C>T							p.E390E	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			6	1256	-		Breast(137;0.000307)	390			Coil 2.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	ENST00000167586.6	37	c.1170G>A	CCDS11400.1																																																																																				0.637	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		15	69	0	0	0	1	0	15	69				
OR10G2	26534	broad.mit.edu	37	14	22102114	22102114	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:22102114C>T	ENST00000542433.1	-	1	982	c.885G>A	c.(883-885)ctG>ctA	p.L295L		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	295						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		CCTGGTTCCTCAGTGTATAGA	0.478																																						ENST00000542433.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22						c.(883-885)ctG>ctA		olfactory receptor, family 10, subfamily G, member 2							93.0	90.0	91.0					14																	22102114		2203	4298	6501	SO:0001819	synonymous_variant	26534				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22102114C>T		CCDS32047.1	14q11.2	2013-09-24			ENSG00000255582	ENSG00000255582		"""GPCR / Class A : Olfactory receptors"""	8170	protein-coding gene	gene with protein product						8188290	Standard	NM_001005466		Approved		uc010tmc.2	Q8NGC3	OTTHUMG00000168890	ENST00000542433.1:c.885G>A	14.37:g.22102114C>T							p.L295L	NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN		GBM - Glioblastoma multiforme(265;0.0142)	1	982	-	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)	295					B2RPD0	Silent	SNP	ENST00000542433.1	37	c.885G>A	CCDS32047.1																																																																																				0.478	OR10G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401525.1			6	82	0	0	0	1	0	6	82				
MTERF4	130916	broad.mit.edu	37	2	242038896	242038896	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:242038896C>G	ENST00000391980.2	-	2	493	c.435G>C	c.(433-435)ttG>ttC	p.L145F	MTERFD2_ENST00000495694.1_Missense_Mutation_p.L145F|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Missense_Mutation_p.L145F|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		145					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GACTTTTCTTCAAGACCACAC	0.463																																						ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(433-435)ttG>ttC		MTERF domain containing 2							117.0	119.0	119.0					2																	242038896		2203	4300	6503	SO:0001583	missense	130916							g.chr2:242038896C>G																												ENST00000391980.2:c.435G>C	2.37:g.242038896C>G	ENSP00000375840:p.Leu145Phe					MTERFD2_ENST00000495694.1_Missense_Mutation_p.L145F|MTERFD2_ENST00000407095.3_Missense_Mutation_p.L145F|MTERFD2_ENST00000406593.1_Intron	p.L145F	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	2	493	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	145					A8K6K0|Q9P0E0	Missense_Mutation	SNP	ENST00000391980.2	37	c.435G>C	CCDS2544.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954686	0.53293	.	.	ENSG00000122085	ENST00000495694;ENST00000401626;ENST00000391980;ENST00000424798;ENST00000407095;ENST00000434791	T;T;T;T;T;T	0.63255	-0.03;-0.0;2.64;2.64;2.64;0.15	5.03	2.22	0.28083	.	0.147317	0.29995	N	0.010677	T	0.73133	0.3548	M	0.74881	2.28	0.24750	N	0.992985	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.62015	-0.6943	10	0.41790	T	0.15	-2.7983	7.0885	0.25272	0.1383:0.7088:0.0:0.1529	.	145;145	B4DKD5;Q7Z6M4	.;MTER2_HUMAN	F	145;145;145;138;145;124	ENSP00000419315:L145F;ENSP00000385183:L145F;ENSP00000375840:L145F;ENSP00000409023:L138F;ENSP00000385630:L145F;ENSP00000393063:L124F	ENSP00000241527:L145F	L	-	3	2	MTERFD2	241687569	1.000000	0.71417	0.035000	0.18076	0.995000	0.86356	1.744000	0.38268	0.155000	0.19261	0.591000	0.81541	TTG		0.463	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			19	82	0	0	0	1	0	19	82				
RB1	5925	broad.mit.edu	37	13	48936983	48936983	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr13:48936983C>T	ENST00000267163.4	+	8	889	c.751C>T	c.(751-753)Cga>Tga	p.R251*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	251					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.R251*(5)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGGTTCACCTCGAACACCCAG	0.343		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		26	Whole gene deletion(15)|Unknown(6)|Substitution - Nonsense(5)	p.0?(15)|p.?(6)|p.R251*(5)	bone(11)|breast(5)|eye(3)|central_nervous_system(2)|lung(2)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM941204	RB1	M		c.(751-753)Cga>Tga		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						104.0	106.0	105.0					13																	48936983		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48936983C>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.751C>T	13.37:g.48936983C>T	ENSP00000267163:p.Arg251*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.R251*	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	8	889	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	251					A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.751C>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097506	0.94197	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	6.03	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0593	0.86542	0.1354:0.8646:0.0:0.0	.	.	.	.	X	230;251	.	ENSP00000267163:R251X	R	+	1	2	RB1	47834984	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.479000	0.45197	2.854000	0.98071	0.655000	0.94253	CGA		0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			19	36	0	0	0	1	0	19	36				
SH3PXD2B	285590	broad.mit.edu	37	5	171766223	171766223	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr5:171766223G>A	ENST00000311601.5	-	13	2056	c.1886C>T	c.(1885-1887)gCc>gTc	p.A629V	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	629					adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGGGGAGTGGCATCTGGCTT	0.567																																						ENST00000311601.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1885-1887)gCc>gTc		SH3 and PX domains 2B							68.0	71.0	70.0					5																	171766223		2203	4300	6503	SO:0001583	missense	285590				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding	g.chr5:171766223G>A	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.1886C>T	5.37:g.171766223G>A	ENSP00000309714:p.Ala629Val					SH3PXD2B_ENST00000519643.1_Intron	p.A629V	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		13	2056	-	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	629					B6F0V2|Q9P2Q1	Missense_Mutation	SNP	ENST00000311601.5	37	c.1886C>T	CCDS34291.1	.	.	.	.	.	.	.	.	.	.	G	9.189	1.025522	0.19512	.	.	ENSG00000174705	ENST00000311601	T	0.61040	0.14	5.46	3.66	0.41972	.	0.591196	0.17688	N	0.165392	T	0.38480	0.1042	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.18713	-1.0328	9	.	.	.	-6.9966	9.1484	0.36948	0.0814:0.1477:0.7709:0.0	.	629	A1X283	SPD2B_HUMAN	V	629	ENSP00000309714:A629V	.	A	-	2	0	SH3PXD2B	171698828	0.813000	0.29090	0.001000	0.08648	0.664000	0.39144	3.696000	0.54757	0.658000	0.30925	0.555000	0.69702	GCC		0.567	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372449.1	NM_017963		4	109	0	0	0	1	0	4	109				
BCKDHA	593	broad.mit.edu	37	19	41931603	41931603	+	IGR	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:41931603C>T	ENST00000269980.2	+	0	2103				CTC-435M10.6_ENST00000598887.1_RNA|B3GNT8_ENST00000601379.1_5'Flank|B3GNT8_ENST00000321702.2_Missense_Mutation_p.D361N	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide						branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						GCAGTGCGGTCTGCTGGCCAG	0.657																																						ENST00000321702.2																			0				cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						c.(1081-1083)Gac>Aac		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8							33.0	37.0	36.0					19																	41931603		2203	4300	6503	SO:0001628	intergenic_variant	374907				poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity	g.chr19:41931603C>T	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128		19.37:g.41931603C>T						CTC-435M10.6_ENST00000598887.1_RNA	p.D361N	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN			3	1534	-			361					B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.1081G>A	CCDS12581.1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858151	0.51376	.	.	ENSG00000177191	ENST00000321702	T	0.34275	1.37	3.81	1.62	0.23740	.	3.160070	0.01076	N	0.004914	T	0.29458	0.0734	L	0.34521	1.04	0.28304	N	0.922976	B	0.31318	0.319	B	0.30029	0.11	T	0.22347	-1.0219	10	0.23302	T	0.38	.	8.1906	0.31366	0.0:0.7372:0.1653:0.0975	.	361	Q7Z7M8	B3GN8_HUMAN	N	361	ENSP00000312700:D361N	ENSP00000312700:D361N	D	-	1	0	B3GNT8	46623443	0.000000	0.05858	0.926000	0.36857	0.865000	0.49528	0.429000	0.21412	0.916000	0.36871	0.655000	0.94253	GAC		0.657	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		14	68	0	0	0	1	0	14	68				
DCAF12L2	340578	broad.mit.edu	37	X	125298763	125298763	+	Missense_Mutation	SNP	A	A	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:125298763A>G	ENST00000360028.2	-	1	1171	c.1145T>C	c.(1144-1146)tTc>tCc	p.F382S	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.F382S			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	382										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTCCTCCAGGAACTTCTGGGC	0.632																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(1144-1146)tTc>tCc		DDB1 and CUL4 associated factor 12-like 2							66.0	71.0	69.0					X																	125298763		2197	4297	6494	SO:0001583	missense	340578							g.chrX:125298763A>G	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1145T>C	X.37:g.125298763A>G	ENSP00000353128:p.Phe382Ser					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.F382S	p.F382S	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	1225	-			382					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1145T>C	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796917	0.70567	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.62364	0.03;0.03	4.14	4.14	0.48551	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.37761	N	0.001943	T	0.76630	0.4014	M	0.79258	2.445	0.43399	D	0.995525	D	0.76494	0.999	D	0.83275	0.996	T	0.77935	-0.2401	10	0.51188	T	0.08	.	10.5135	0.44876	1.0:0.0:0.0:0.0	.	382	Q5VW00	DC122_HUMAN	S	382	ENSP00000441489:F382S;ENSP00000353128:F382S	ENSP00000353128:F382S	F	-	2	0	DCAF12L2	125126444	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.476000	0.81055	1.844000	0.53588	0.486000	0.48141	TTC		0.632	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		5	140	0	0	0	1	0	5	140				
TLN2	83660	broad.mit.edu	37	15	62989911	62989911	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr15:62989911C>T	ENST00000561311.1	+	14	1547	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	TLN2_ENST00000306829.6_Silent_p.F439F			Q9Y4G6	TLN2_HUMAN	talin 2	439					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGCAGCAGTTCAACCGGACCG	0.617																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(1315-1317)ttC>ttT		talin 2							98.0	109.0	105.0					15																	62989911		2203	4300	6503	SO:0001819	synonymous_variant	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62989911C>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1317C>T	15.37:g.62989911C>T						TLN2_ENST00000306829.6_Silent_p.F439F	p.F439F			Q9Y4G6	TLN2_HUMAN			14	1547	+			439					A6NLB8	Silent	SNP	ENST00000561311.1	37	c.1317C>T	CCDS32261.1																																																																																				0.617	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			6	178	0	0	0	1	0	6	178				
SOCS6	9306	broad.mit.edu	37	18	67993164	67993164	+	Silent	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:67993164G>A	ENST00000397942.3	+	2	1576	c.1260G>A	c.(1258-1260)ttG>ttA	p.L420L	SOCS6_ENST00000582322.1_Silent_p.L420L	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	420	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TTTTAAGCTTGAGCTTTCGCT	0.463																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(1258-1260)ttG>ttA		suppressor of cytokine signaling 6							144.0	134.0	138.0					18																	67993164		2203	4300	6503	SO:0001819	synonymous_variant	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67993164G>A	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.1260G>A	18.37:g.67993164G>A						SOCS6_ENST00000582322.1_Silent_p.L420L	p.L420L	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN			2	1576	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	420			SH2.		Q8WUM3	Silent	SNP	ENST00000397942.3	37	c.1260G>A	CCDS11998.1																																																																																				0.463	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			17	71	0	0	0	1	0	17	71				
KIF16B	55614	broad.mit.edu	37	20	16347835	16347835	+	Intron	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr20:16347835G>A	ENST00000354981.2	-	22	3656				KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.Q1379*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B						ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GCCTCATCTTGAGAATTGAAA	0.408																																						ENST00000408042.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(4135-4137)Caa>Taa		kinesin family member 16B							82.0	78.0	79.0					20																	16347835		876	1991	2867	SO:0001627	intron_variant	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16347835G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3498+3395C>T	20.37:g.16347835G>A						KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000355755.3_Intron	p.Q1379*	NM_001199866.1	NP_001186795.1	Q96L93	KI16B_HUMAN			23	4292	-			0					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Nonsense_Mutation	SNP	ENST00000354981.2	37	c.4135C>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	41	8.818304	0.98966	.	.	ENSG00000089177	ENST00000408042	.	.	.	5.63	3.64	0.41730	.	0.737577	0.13698	N	0.369065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	4.5714	0.12212	0.0788:0.29:0.4802:0.151	.	.	.	.	X	1379	.	ENSP00000384164:Q1379X	Q	-	1	0	KIF16B	16295835	0.964000	0.33143	0.987000	0.45799	0.830000	0.47004	0.805000	0.27112	0.691000	0.31592	0.637000	0.83480	CAA		0.408	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		7	39	0	0	0	1	0	7	39				
CHD9	80205	broad.mit.edu	37	16	53358331	53358331	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr16:53358331G>A	ENST00000398510.3	+	38	8305	c.8218G>A	c.(8218-8220)Gaa>Aaa	p.E2740K	CHD9_ENST00000447540.1_Missense_Mutation_p.E2725K|CHD9_ENST00000564845.1_Missense_Mutation_p.E2724K|CHD9_ENST00000566029.1_Missense_Mutation_p.E2724K			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2740					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATCTGGGACAGAAGACAAAAA	0.478																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(8170-8172)Gaa>Aaa		chromodomain helicase DNA binding protein 9							69.0	67.0	68.0					16																	53358331		1918	4133	6051	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53358331G>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8218G>A	16.37:g.53358331G>A	ENSP00000381522:p.Glu2740Lys					CHD9_ENST00000564845.1_Missense_Mutation_p.E2724K|CHD9_ENST00000447540.1_Missense_Mutation_p.E2725K|CHD9_ENST00000398510.3_Missense_Mutation_p.E2740K	p.E2724K			Q3L8U1	CHD9_HUMAN			39	8379	+		all_cancers(37;0.0212)	2740					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.8170G>A		.	.	.	.	.	.	.	.	.	.	G	13.19	2.163585	0.38217	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.85773	-2.03	5.47	5.47	0.80525	.	0.000000	0.56097	D	0.000023	D	0.89550	0.6747	L	0.50333	1.59	0.51767	D	0.999936	B;B;D;B	0.58268	0.068;0.112;0.982;0.112	B;B;D;B	0.67548	0.014;0.029;0.952;0.029	D	0.85222	0.1027	10	0.16896	T	0.51	-21.8132	19.6972	0.96030	0.0:0.0:1.0:0.0	.	806;2725;2740;2724	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	K	2725;2724;806	ENSP00000396345:E2725K	ENSP00000381522:E2724K	E	+	1	0	CHD9	51915832	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.495000	0.97964	2.729000	0.93468	0.655000	0.94253	GAA		0.478	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		15	42	0	0	0	1	0	15	42				
KIF19	124602	broad.mit.edu	37	17	72338069	72338069	+	Missense_Mutation	SNP	C	C	T	rs374148526		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:72338069C>T	ENST00000389916.4	+	3	313	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	59	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCGGGCGCATCGCTCCCGGGA	0.667																																						ENST00000389916.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(175-177)Cgc>Tgc		kinesin family member 19							129.0	125.0	127.0					17																	72338069		2203	4300	6503	SO:0001583	missense	124602				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr17:72338069C>T	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.175C>T	17.37:g.72338069C>T	ENSP00000374566:p.Arg59Cys						p.R59C	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN			3	313	+			59			Kinesin-motor.		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	c.175C>T	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	C	29.6	5.016346	0.93404	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.76186	-1.0;-0.97	5.5	4.5	0.54988	Kinesin, motor domain (4);	.	.	.	.	D	0.88584	0.6476	M	0.91038	3.17	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;1.0;0.999;0.997	D	0.90963	0.4814	9	0.87932	D	0	.	15.4285	0.75072	0.1395:0.8605:0.0:0.0	.	59;59;59;59	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	C	59	ENSP00000449134:R59C;ENSP00000374566:R59C	ENSP00000374566:R59C	R	+	1	0	KIF19	69849664	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	5.497000	0.66924	2.598000	0.87819	0.549000	0.68633	CGC		0.667	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		25	165	0	0	0	1	0	25	165				
SERPINA3	12	broad.mit.edu	37	14	95088735	95088735	+	Silent	SNP	C	C	T	rs372600839		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:95088735C>T	ENST00000467132.1	+	4	2123	c.975C>T	c.(973-975)aaC>aaT	p.N325N	SERPINA3_ENST00000393078.3_Silent_p.N325N|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_Silent_p.N107N|SERPINA3_ENST00000393080.4_Silent_p.N325N			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	325					acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ATAACCTGAACGACATACTTC	0.498													A|||	1	0.000199681	0.0	0.0	5008	,	,		19797	0.001		0.0	False		,,,				2504	0.0					ENST00000553947.1																			0				NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40						c.(1048-1050)aaC>aaT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3		A		0,4406		0,0,2203	125.0	114.0	118.0		975	-3.0	0.0	14		118	1,8599		0,1,4299	no	coding-synonymous	SERPINA3	NM_001085.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		325/424	95088735	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	12				acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	g.chr14:95088735C>T	K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.975C>T	14.37:g.95088735C>T						SERPINA3_ENST00000467132.1_Silent_p.N325N|SERPINA3_ENST00000393078.3_Silent_p.N325N|SERPINA3_ENST00000393080.4_Silent_p.N325N|SERPINA3_ENST00000556388.1_3'UTR|SERPINA3_ENST00000482740.1_Silent_p.N107N	p.N350N			P01011	AACT_HUMAN		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)	7	1938	+		all_cancers(154;0.0525)|all_epithelial(191;0.179)	325					B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Silent	SNP	ENST00000467132.1	37	c.1050C>T	CCDS32150.1																																																																																				0.498	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085		7	69	0	0	0	1	0	7	69				
EPB41L3	23136	broad.mit.edu	37	18	5395094	5395094	+	Missense_Mutation	SNP	G	G	A	rs147930423		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:5395094G>A	ENST00000341928.2	-	21	3465	c.3125C>T	c.(3124-3126)aCg>aTg	p.T1042M	EPB41L3_ENST00000400111.3_Missense_Mutation_p.T820M|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T1042M|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T820M|EPB41L3_ENST00000542146.1_Missense_Mutation_p.T347M|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T873M|EPB41L3_ENST00000427684.2_Missense_Mutation_p.T339M|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1042	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGCATCCCCCGTGATGACTAT	0.448																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(3124-3126)aCg>aTg		erythrocyte membrane protein band 4.1-like 3		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	150.0	128.0	136.0		3125	5.9	1.0	18	dbSNP_134	136	0,8600		0,0,4300	no	missense	EPB41L3	NM_012307.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1042/1088	5395094	1,13005	2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5395094G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3125C>T	18.37:g.5395094G>A	ENSP00000343158:p.Thr1042Met					EPB41L3_ENST00000427684.2_Missense_Mutation_p.T339M|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T873M|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T820M|EPB41L3_ENST00000400111.3_Missense_Mutation_p.T820M|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T1042M|EPB41L3_ENST00000542146.1_Missense_Mutation_p.T347M|EPB41L3_ENST00000542652.2_5'UTR	p.T1042M	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			21	3465	-			1042			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.3125C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600445	0.87055	2.27E-4	0.0	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.93	5.93	0.95920	Band 4.1, C-terminal (1);	0.096362	0.64402	D	0.000001	D	0.92583	0.7644	M	0.86028	2.79	0.58432	D	0.999998	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.971;0.983;0.998;0.996	D	0.92734	0.6202	10	0.87932	D	0	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	873;339;347;434;711;820;1042;277	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	M	1042;711;873;711;339;347;1042;820	ENSP00000343158:T1042M;ENSP00000441174:T873M;ENSP00000392195:T339M;ENSP00000442233:T347M;ENSP00000341138:T1042M;ENSP00000382981:T820M	ENSP00000343158:T1042M	T	-	2	0	EPB41L3	5385094	1.000000	0.71417	0.992000	0.48379	0.955000	0.61496	6.466000	0.73543	2.826000	0.97356	0.655000	0.94253	ACG		0.448	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		5	86	0	0	0	1	0	5	86				
LAMA3	3909	broad.mit.edu	37	18	21461945	21461945	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:21461945G>A	ENST00000313654.9	+	40	5399	c.5158G>A	c.(5158-5160)Gag>Aag	p.E1720K	LAMA3_ENST00000399516.3_Missense_Mutation_p.E1720K|LAMA3_ENST00000587184.1_Missense_Mutation_p.E111K|LAMA3_ENST00000269217.6_Missense_Mutation_p.E111K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1720	Domain III A.|Laminin EGF-like 13. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					ACGCTGCCAGGAGGGCTACTA	0.572																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(5158-5160)Gag>Aag		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						91.0	69.0	76.0					18																	21461945		2203	4299	6502	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21461945G>A	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.5158G>A	18.37:g.21461945G>A	ENSP00000324532:p.Glu1720Lys					LAMA3_ENST00000399516.3_Missense_Mutation_p.E1720K|LAMA3_ENST00000587184.1_Missense_Mutation_p.E111K|LAMA3_ENST00000269217.6_Missense_Mutation_p.E111K	p.E1720K	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			40	5399	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1720			Domain III A.|Laminin EGF-like 13.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.5158G>A	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351788	0.82132	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.61859	0.07;0.07;0.07	5.61	5.61	0.85477	EGF-like, laminin (4);Growth factor, receptor (1);	.	.	.	.	T	0.70334	0.3212	L	0.60455	1.87	0.47994	D	0.999562	P;P;P;P	0.46020	0.454;0.515;0.868;0.871	B;B;P;P	0.57009	0.176;0.229;0.811;0.622	T	0.66027	-0.6025	9	0.35671	T	0.21	.	19.2248	0.93814	0.0:0.0:1.0:0.0	.	111;111;1720;1720	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	K	1720;1720;111	ENSP00000324532:E1720K;ENSP00000382432:E1720K;ENSP00000269217:E111K	ENSP00000269217:E111K	E	+	1	0	LAMA3	19715943	1.000000	0.71417	0.997000	0.53966	0.513000	0.34164	8.593000	0.90832	2.660000	0.90430	0.655000	0.94253	GAG		0.572	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		15	53	0	0	0	1	0	15	53				
UBE2E2	7325	broad.mit.edu	37	3	23574161	23574161	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:23574161C>T	ENST00000396703.1	+	5	657	c.477C>T	c.(475-477)tcC>tcT	p.S159S	UBE2E2_ENST00000425792.1_Silent_p.S159S	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2	159					ISG15-protein conjugation (GO:0032020)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)		ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						TTCTCCTCTCCATCTGCTCAC	0.388																																					GBM(85;1941 2083 9456)	ENST00000396703.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						c.(475-477)tcC>tcT		ubiquitin-conjugating enzyme E2E 2							90.0	88.0	89.0					3																	23574161		2203	4300	6503	SO:0001819	synonymous_variant	7325				ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity	g.chr3:23574161C>T	AK057886	CCDS2637.1	3p24.2	2011-05-19	2011-05-19		ENSG00000182247	ENSG00000182247		"""Ubiquitin-conjugating enzymes E2"""	12478	protein-coding gene	gene with protein product		602163	"""ubiquitin-conjugating enzyme E2E 2 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 2 (UBC4/5 homolog, yeast)"""			9371400	Standard	NM_152653		Approved	UbcH8, FLJ25157	uc003ccg.2	Q96LR5	OTTHUMG00000130482	ENST00000396703.1:c.477C>T	3.37:g.23574161C>T						UBE2E2_ENST00000425792.1_Silent_p.S159S	p.S159S	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN			5	657	+			159						Silent	SNP	ENST00000396703.1	37	c.477C>T	CCDS2637.1																																																																																				0.388	UBE2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252881.2	NM_152653		17	37	0	0	0	1	0	17	37				
MEOX1	4222	broad.mit.edu	37	17	41738457	41738457	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:41738457G>C	ENST00000318579.4	-	1	865	c.446C>G	c.(445-447)tCc>tGc	p.S149C	MEOX1_ENST00000329168.3_Missense_Mutation_p.S149C|MEOX1_ENST00000549132.1_Missense_Mutation_p.P120A|MEOX1_ENST00000393661.2_Missense_Mutation_p.S34C	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	149					multicellular organismal development (GO:0007275)|somite specification (GO:0001757)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		TCTCCGCCTGGATGATTTCTT	0.577																																						ENST00000318579.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8						c.(445-447)tCc>tGc		mesenchyme homeobox 1							197.0	197.0	197.0					17																	41738457		2203	4300	6503	SO:0001583	missense	4222					nucleus	sequence-specific DNA binding	g.chr17:41738457G>C		CCDS11466.1, CCDS11467.1, CCDS42343.1	17q21.31	2014-07-15	2005-12-22					"""Homeoboxes / ANTP class : HOXL subclass"""	7013	protein-coding gene	gene with protein product		600147	"""mesenchyme homeo box 1"""			7987315	Standard	NM_013999		Approved	MOX1	uc002idz.3	P50221	OTTHUMG00000170513	ENST00000318579.4:c.446C>G	17.37:g.41738457G>C	ENSP00000321684:p.Ser149Cys					MEOX1_ENST00000549132.1_Missense_Mutation_p.P120A|MEOX1_ENST00000393661.2_Missense_Mutation_p.S34C|MEOX1_ENST00000329168.3_Missense_Mutation_p.S149C	p.S149C	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0753)	1	865	-		Breast(137;0.00908)	149					A8K524|A8MWF9|Q15069	Missense_Mutation	SNP	ENST00000318579.4	37	c.446C>G	CCDS11466.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.00|15.00	2.703524|2.703524	0.48412|0.48412	.|.	.|.	ENSG00000005102|ENSG00000005102	ENST00000549132|ENST00000318579;ENST00000329168;ENST00000393661	.|D;T;D	.|0.92048	.|-2.96;0.42;-2.92	4.99|4.99	2.95|2.95	0.34219|0.34219	.|.	.|0.711794	.|0.14610	.|N	.|0.309064	D|D	0.91199|0.91199	0.7227|0.7227	L|L	0.42245|0.42245	1.32|1.32	0.37262|0.37262	D|D	0.90703|0.90703	.|D;P	.|0.60575	.|0.988;0.805	.|P;P	.|0.53593	.|0.73;0.503	D|D	0.90156|0.90156	0.4224|0.4224	6|10	0.87932|0.72032	D|D	0|0.01	-11.643|-11.643	9.0032|9.0032	0.36094|0.36094	0.0785:0.147:0.7746:0.0|0.0785:0.147:0.7746:0.0	.|.	.|149;149	.|Q15069;P50221	.|.;MEOX1_HUMAN	A|C	120|149;149;34	.|ENSP00000321684:S149C;ENSP00000328678:S149C;ENSP00000377271:S34C	ENSP00000449049:P120A|ENSP00000321684:S149C	P|S	-|-	1|2	0|0	MEOX1|MEOX1	39093983|39093983	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.997000|0.997000	0.91878|0.91878	2.401000|2.401000	0.44513|0.44513	0.666000|0.666000	0.31087|0.31087	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.577	MEOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409452.1			10	269	0	0	0	1	0	10	269				
PCLO	27445	broad.mit.edu	37	7	82584883	82584883	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:82584883C>G	ENST00000333891.9	-	5	5723	c.5386G>C	c.(5386-5388)Gaa>Caa	p.E1796Q	PCLO_ENST00000423517.2_Missense_Mutation_p.E1796Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTTGCTGTTCTATTTCCCTC	0.383																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5386-5388)Gaa>Caa		piccolo presynaptic cytomatrix protein							113.0	105.0	107.0					7																	82584883		1829	4080	5909	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584883C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5386G>C	7.37:g.82584883C>G	ENSP00000334319:p.Glu1796Gln					PCLO_ENST00000333891.8_Missense_Mutation_p.E1796Q	p.E1796Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	5723	-			1727						Missense_Mutation	SNP	ENST00000333891.9	37	c.5386G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	10.71	1.425487	0.25639	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.36520	1.25;1.28	5.56	5.56	0.83823	.	.	.	.	.	T	0.48677	0.1513	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.54016	-0.8356	9	0.87932	D	0	.	19.5207	0.95184	0.0:1.0:0.0:0.0	.	1796;1796	Q9Y6V0-5;Q9Y6V0-6	.;.	Q	1727;1796;1796	ENSP00000334319:E1796Q;ENSP00000388393:E1796Q	ENSP00000334319:E1796Q	E	-	1	0	PCLO	82422819	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	5.733000	0.68571	2.614000	0.88457	0.650000	0.86243	GAA		0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		28	56	0	0	0	1	0	28	56				
PRDM4	11108	broad.mit.edu	37	12	108128117	108128117	+	Nonsense_Mutation	SNP	G	G	T	rs148191921		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:108128117G>T	ENST00000228437.5	-	12	2735	c.2276C>A	c.(2275-2277)tCg>tAg	p.S759*	RP11-864J10.4_ENST00000546714.1_RNA|RP11-864J10.4_ENST00000546829.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	759					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGGTGCTGACGAACTGGAGGT	0.473																																						ENST00000228437.5																			0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(2275-2277)tCg>tAg		PR domain containing 4							162.0	157.0	159.0					12																	108128117		2203	4300	6503	SO:0001587	stop_gained	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108128117G>T	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2276C>A	12.37:g.108128117G>T	ENSP00000228437:p.Ser759*						p.S759*	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN			12	2735	-			759					Q9UFA6	Nonsense_Mutation	SNP	ENST00000228437.5	37	c.2276C>A	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	G	42	9.456185	0.99175	.	.	ENSG00000110851	ENST00000228437	.	.	.	6.03	5.13	0.70059	.	0.414968	0.27284	N	0.020072	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.8807	9.2345	0.37457	0.1561:0.0:0.8439:0.0	.	.	.	.	X	759	.	ENSP00000228437:S759X	S	-	2	0	PRDM4	106652247	0.713000	0.27926	0.996000	0.52242	0.992000	0.81027	2.179000	0.42528	2.868000	0.98415	0.555000	0.69702	TCG		0.473	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406		21	93	1	0	2.54575e-18	1	2.73698e-18	21	93				
MTPN	136319	broad.mit.edu	37	7	135635385	135635385	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:135635385C>T	ENST00000393085.3	-	3	447	c.232G>A	c.(232-234)Gag>Aag	p.E78K	MTPN_ENST00000435723.1_Intron	NM_001128619.2|NM_145808.3	NP_001122091.2|NP_665807.1	P58546	MTPN_HUMAN	myotrophin	78					catecholamine metabolic process (GO:0006584)|cell growth (GO:0016049)|cerebellar granule cell differentiation (GO:0021707)|neuron differentiation (GO:0030182)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell growth (GO:0030307)|positive regulation of macromolecule biosynthetic process (GO:0010557)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein metabolic process (GO:0051247)|regulation of barbed-end actin filament capping (GO:2000812)|regulation of striated muscle tissue development (GO:0016202)|regulation of translation (GO:0006417)|skeletal muscle tissue regeneration (GO:0043403)|striated muscle cell differentiation (GO:0051146)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|nucleus (GO:0005634)				endometrium(1)|lung(4)|prostate(1)	6						ACATGACCCTCATAGACAGCA	0.338																																						ENST00000393085.3																			0				endometrium(1)|lung(4)|prostate(1)	6						c.(232-234)Gag>Aag		myotrophin							147.0	148.0	148.0					7																	135635385		2203	4300	6503	SO:0001583	missense	136319				cell growth|regulation of striated muscle tissue development|regulation of translation	cytoplasm	protein binding	g.chr7:135635385C>T	AC015987	CCDS5842.1	7q33-q35	2013-01-10			ENSG00000105887	ENSG00000105887		"""Ankyrin repeat domain containing"""	15667	protein-coding gene	gene with protein product	"""granule cell differentiation protein"""	606484				11474205	Standard	NM_145808		Approved	MYOTROPHIN, GCDP, V-1		P58546	OTTHUMG00000155627	ENST00000393085.3:c.232G>A	7.37:g.135635385C>T	ENSP00000376800:p.Glu78Lys					MTPN_ENST00000435723.1_Intron	p.E78K	NM_001128619.2|NM_145808.3	NP_001122091.2|NP_665807.1	P58546	MTPN_HUMAN			3	447	-			78						Missense_Mutation	SNP	ENST00000393085.3	37	c.232G>A	CCDS5842.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441244	0.96187	.	.	ENSG00000105887	ENST00000393085	T	0.63417	-0.04	5.69	5.69	0.88448	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.61248	0.2332	N	0.11255	0.115	0.80722	D	1	D	0.53462	0.96	D	0.69824	0.966	T	0.58934	-0.7548	10	0.20046	T	0.44	.	15.3242	0.74147	0.0:1.0:0.0:0.0	.	78	P58546	MTPN_HUMAN	K	78	ENSP00000376800:E78K	ENSP00000376800:E78K	E	-	1	0	MTPN	135285925	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.358000	0.73055	2.699000	0.92147	0.591000	0.81541	GAG		0.338	MTPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340921.1	NM_145808		6	104	0	0	0	1	0	6	104				
CHD3	1107	broad.mit.edu	37	17	7796794	7796794	+	Missense_Mutation	SNP	A	A	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:7796794A>C	ENST00000330494.7	+	5	850	c.700A>C	c.(700-702)Ata>Cta	p.I234L	CHD3_ENST00000380358.4_Missense_Mutation_p.I293L|CHD3_ENST00000358181.4_Missense_Mutation_p.I234L	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	234					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GGCCACCCCCATAGCACCCTC	0.657																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(877-879)Ata>Cta		chromodomain helicase DNA binding protein 3							17.0	19.0	18.0					17																	7796794		2201	4295	6496	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7796794A>C	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.700A>C	17.37:g.7796794A>C	ENSP00000332628:p.Ile234Leu					CHD3_ENST00000358181.4_Missense_Mutation_p.I234L|CHD3_ENST00000330494.7_Missense_Mutation_p.I234L	p.I293L	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			5	878	+		Prostate(122;0.202)	234					D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.877A>C	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.126|8.126	0.781961|0.781961	0.16189|0.16189	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000452447|ENST00000380358;ENST00000358181;ENST00000330494	.|D;D;D	.|0.89681	.|-2.55;-2.48;-2.49	4.82|4.82	2.56|2.56	0.30785|0.30785	.|.	.|0.265497	.|0.26574	.|N	.|0.023613	T|T	0.74366|0.74366	0.3707|0.3707	N|N	0.12569|0.12569	0.235|0.235	0.27264|0.27264	N|N	0.958547|0.958547	.|B;B;B	.|0.09022	.|0.0;0.0;0.002	.|B;B;B	.|0.04013	.|0.001;0.001;0.001	T|T	0.60239|0.60239	-0.7302|-0.7302	5|10	.|0.30078	.|T	.|0.28	-5.5046|-5.5046	4.7364|4.7364	0.12989|0.12989	0.6287:0.0:0.2401:0.1313|0.6287:0.0:0.2401:0.1313	.|.	.|234;234;293	.|Q12873-2;Q12873;E9PG89	.|.;CHD3_HUMAN;.	P|L	108|293;234;234	.|ENSP00000369716:I293L;ENSP00000350907:I234L;ENSP00000332628:I234L	.|ENSP00000332628:I234L	H|I	+|+	2|1	0|0	CHD3|CHD3	7737519|7737519	.|.	.|.	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	.|.	.|.	0.338000|0.338000	0.23692|0.23692	-0.388000|-0.388000	0.06559|0.06559	CAT|ATA		0.657	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		3	13	0	0	0	1	0	3	13				
SERBP1	26135	broad.mit.edu	37	1	67885715	67885715	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:67885715G>C	ENST00000370995.2	-	6	1058	c.973C>G	c.(973-975)Ctt>Gtt	p.L325V	SERBP1_ENST00000484880.1_5'UTR|SERBP1_ENST00000361219.6_Missense_Mutation_p.L310V|RNU6-387P_ENST00000411331.1_RNA|SERBP1_ENST00000370994.4_Missense_Mutation_p.L304V|SERBP1_ENST00000370990.5_Missense_Mutation_p.L319V			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	325					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						GATTTATGAAGAACAAATCCC	0.323																																						ENST00000370994.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						c.(910-912)Ctt>Gtt		SERPINE1 mRNA binding protein 1							76.0	77.0	77.0					1																	67885715		2203	4299	6502	SO:0001583	missense	26135				regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding	g.chr1:67885715G>C	AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.973C>G	1.37:g.67885715G>C	ENSP00000360034:p.Leu325Val					SERBP1_ENST00000370990.5_Missense_Mutation_p.L319V|SERBP1_ENST00000484880.1_5'UTR|SERBP1_ENST00000361219.6_Missense_Mutation_p.L310V|SERBP1_ENST00000370995.2_Missense_Mutation_p.L325V	p.L304V	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN			6	1024	-			325					Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	ENST00000370995.2	37	c.910C>G	CCDS30746.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770352	0.90108	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.76054	0.3934	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.76494	0.993;0.999;0.996;0.999	D;D;D;D	0.85130	0.967;0.99;0.928;0.997	T	0.78135	-0.2322	9	0.72032	D	0.01	-15.165	19.2786	0.94042	0.0:0.0:1.0:0.0	.	367;382;310;325	D3DQ69;D3DQ70;Q8NC51-3;Q8NC51	.;.;.;PAIRB_HUMAN	V	304;325;310;319	.	ENSP00000354591:L310V	L	-	1	0	SERBP1	67658303	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.553000	0.73918	2.552000	0.86080	0.460000	0.39030	CTT		0.323	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025984.2	NM_001018067		8	49	0	0	0	1	0	8	49				
EFHC1	114327	broad.mit.edu	37	6	52355018	52355018	+	Nonsense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:52355018C>G	ENST00000371068.5	+	10	1824	c.1721C>G	c.(1720-1722)tCa>tGa	p.S574*	EFHC1_ENST00000433625.2_Nonsense_Mutation_p.S483*|EFHC1_ENST00000538167.1_Nonsense_Mutation_p.S555*	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	574	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					AAAGATCACTCATGCAAAGAC	0.393																																						ENST00000371068.5																			0				breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27						c.(1720-1722)tCa>tGa		EF-hand domain (C-terminal) containing 1							118.0	107.0	111.0					6																	52355018		2203	4300	6503	SO:0001587	stop_gained	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52355018C>G	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.1721C>G	6.37:g.52355018C>G	ENSP00000360107:p.Ser574*					EFHC1_ENST00000433625.2_Nonsense_Mutation_p.S483*|EFHC1_ENST00000538167.1_Nonsense_Mutation_p.S555*	p.S574*	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN			10	1824	+	Lung NSC(77;0.109)		574			EF-hand.		B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Nonsense_Mutation	SNP	ENST00000371068.5	37	c.1721C>G	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	C	35	5.577545	0.96565	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	.	.	.	5.66	4.57	0.56435	.	0.701509	0.13146	N	0.410267	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	0.0101	6.2096	0.20621	0.0:0.8238:0.0:0.1762	.	.	.	.	X	574;483;555	.	ENSP00000360107:S574X	S	+	2	0	EFHC1	52462977	0.014000	0.17966	0.072000	0.20136	0.527000	0.34593	2.345000	0.44018	2.833000	0.97629	0.650000	0.86243	TCA		0.393	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		6	58	0	0	0	1	0	6	58				
CKAP2L	150468	broad.mit.edu	37	2	113514069	113514069	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:113514069C>G	ENST00000302450.6	-	4	957	c.879G>C	c.(877-879)aaG>aaC	p.K293N	CKAP2L_ENST00000481732.1_5'Flank|CKAP2L_ENST00000541405.1_Missense_Mutation_p.K128N	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	293						centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.K293N(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CTACTGGTTTCTTTGATGACT	0.398																																						ENST00000541405.1																			1	Substitution - Missense(1)	p.K293N(1)	large_intestine(1)	breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(382-384)aaG>aaC		cytoskeleton associated protein 2-like							94.0	98.0	96.0					2																	113514069		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113514069C>G	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.879G>C	2.37:g.113514069C>G	ENSP00000305204:p.Lys293Asn					CKAP2L_ENST00000302450.6_Missense_Mutation_p.K293N	p.K128N			Q8IYA6	CKP2L_HUMAN			4	907	-			293					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.384G>C	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446863	0.25987	.	.	ENSG00000169607	ENST00000541405;ENST00000302450	T;T	0.15256	2.44;3.11	4.69	1.93	0.25924	.	0.424342	0.23454	N	0.048004	T	0.22820	0.0551	M	0.68317	2.08	0.09310	N	1	P	0.48016	0.904	P	0.49887	0.625	T	0.05599	-1.0875	10	0.34782	T	0.22	-6.8178	6.6415	0.22911	0.0:0.7084:0.0:0.2916	.	293	Q8IYA6	CKP2L_HUMAN	N	128;293	ENSP00000438763:K128N;ENSP00000305204:K293N	ENSP00000305204:K293N	K	-	3	2	CKAP2L	113230540	0.346000	0.24844	0.010000	0.14722	0.117000	0.20001	0.044000	0.13992	0.456000	0.26937	0.585000	0.79938	AAG		0.398	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		17	42	0	0	0	1	0	17	42				
EEA1	8411	broad.mit.edu	37	12	93226487	93226487	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:93226487C>G	ENST00000322349.8	-	11	1319	c.1055G>C	c.(1054-1056)aGa>aCa	p.R352T		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	352					early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TGCAGACAATCTTGACTGAAG	0.363																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.(1054-1056)aGa>aCa		early endosome antigen 1							152.0	141.0	145.0					12																	93226487		2203	4299	6502	SO:0001583	missense	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93226487C>G	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1055G>C	12.37:g.93226487C>G	ENSP00000317955:p.Arg352Thr						p.R352T	NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			11	1319	-			352					Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	c.1055G>C	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	10.65	1.409396	0.25378	.	.	ENSG00000102189	ENST00000322349	D	0.82619	-1.63	5.7	4.62	0.57501	.	0.209207	0.32901	N	0.005520	T	0.71584	0.3357	L	0.29908	0.895	0.50313	D	0.999862	P	0.39665	0.682	B	0.32980	0.156	T	0.73563	-0.3943	10	0.40728	T	0.16	.	13.3029	0.60336	0.0:0.8806:0.0:0.1194	.	352	Q15075	EEA1_HUMAN	T	352	ENSP00000317955:R352T	ENSP00000317955:R352T	R	-	2	0	EEA1	91750618	1.000000	0.71417	0.997000	0.53966	0.296000	0.27459	3.085000	0.50151	2.685000	0.91497	0.655000	0.94253	AGA		0.363	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566		5	52	0	0	0	1	0	5	52				
SPEN	23013	broad.mit.edu	37	1	16255380	16255380	+	Missense_Mutation	SNP	G	G	C	rs368635957		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:16255380G>C	ENST00000375759.3	+	11	2849	c.2645G>C	c.(2644-2646)cGa>cCa	p.R882P		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	882					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GTTTTGACTCGAGTGAAAGAG	0.463																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(2644-2646)cGa>cCa		spen family transcriptional repressor							100.0	106.0	104.0					1																	16255380		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16255380G>C		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2645G>C	1.37:g.16255380G>C	ENSP00000364912:p.Arg882Pro						p.R882P	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2849	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	882					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.2645G>C	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745984	0.30955	.	.	ENSG00000065526	ENST00000375759	T	0.15952	2.38	4.78	4.78	0.61160	.	.	.	.	.	T	0.37652	0.1011	M	0.62723	1.935	0.54753	D	0.999982	D	0.71674	0.998	P	0.61201	0.885	T	0.14448	-1.0472	9	0.59425	D	0.04	-8.7423	17.9966	0.89185	0.0:0.0:1.0:0.0	.	882	Q96T58	MINT_HUMAN	P	882	ENSP00000364912:R882P	ENSP00000364912:R882P	R	+	2	0	SPEN	16127967	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.049000	0.71053	2.460000	0.83146	0.591000	0.81541	CGA		0.463	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		4	175	0	0	0	1	0	4	175				
C3orf33	285315	broad.mit.edu	37	3	155485381	155485381	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:155485381C>G	ENST00000340171.2	-	4	498	c.400G>C	c.(400-402)Gag>Cag	p.E134Q	C3orf33_ENST00000534941.1_Missense_Mutation_p.E91Q			Q6P1S2	CC033_HUMAN	chromosome 3 open reading frame 33	134					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)			breast(1)|kidney(1)|large_intestine(3)|lung(3)	8			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGTTTTAGCTCTTTTTGTAAC	0.418																																						ENST00000534941.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(271-273)Gag>Cag		chromosome 3 open reading frame 33							136.0	114.0	121.0					3																	155485381		1871	4103	5974	SO:0001583	missense	285315						hydrolase activity, acting on ester bonds|nucleic acid binding	g.chr3:155485381C>G	AF115515	CCDS54659.1	3q25.31	2012-10-31			ENSG00000174928	ENSG00000174928			26434	protein-coding gene	gene with protein product						20680465	Standard	NM_173657		Approved	FLJ31139, AC3-33	uc003fal.1	Q6P1S2	OTTHUMG00000158496	ENST00000340171.2:c.400G>C	3.37:g.155485381C>G	ENSP00000342512:p.Glu134Gln					C3orf33_ENST00000340171.2_Missense_Mutation_p.E134Q	p.E91Q	NM_173657.1	NP_775928.1	Q96NB5	Q96NB5_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		5	540	-			91					A8K1H5|Q86YE6|Q8IXA7|Q96NB5	Missense_Mutation	SNP	ENST00000340171.2	37	c.271G>C		.	.	.	.	.	.	.	.	.	.	C	14.06	2.423953	0.43020	.	.	ENSG00000174928	ENST00000534941;ENST00000340171;ENST00000537385	T;T	0.28895	1.59;1.59	5.28	4.4	0.53042	Staphylococcal nuclease (SNase-like) (1);	0.410756	0.26808	N	0.022382	T	0.30262	0.0759	L	0.50919	1.6	0.09310	N	0.999999	P	0.49696	0.927	P	0.46585	0.521	T	0.15521	-1.0434	10	0.36615	T	0.2	-9.3655	8.1288	0.31014	0.0:0.753:0.1615:0.0855	.	134	Q6P1S2	CC033_HUMAN	Q	91;134;134	ENSP00000445446:E91Q;ENSP00000342512:E134Q	ENSP00000342512:E134Q	E	-	1	0	C3orf33	156968075	0.991000	0.36638	0.284000	0.24805	0.854000	0.48673	2.729000	0.47327	2.458000	0.83093	0.591000	0.81541	GAG		0.418	C3orf33-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351167.1	NM_173657		5	20	0	0	0	1	0	5	20				
MAS1	4142	broad.mit.edu	37	6	160328944	160328944	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:160328944C>T	ENST00000252660.4	+	1	971	c.957C>T	c.(955-957)gtC>gtT	p.V319V		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	319					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		GTAATACGGTCACAGTTGAGA	0.403																																						ENST00000252660.4																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(955-957)gtC>gtT		MAS1 oncogene							59.0	60.0	60.0					6																	160328944		2166	4294	6460	SO:0001819	synonymous_variant	4142				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity	g.chr6:160328944C>T	M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"""GPCR / Class A : Orphans"""	6899	protein-coding gene	gene with protein product		165180	"""MAS1 oncogene"""				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.957C>T	6.37:g.160328944C>T							p.V319V	NM_002377.2	NP_002368.1	P04201	MAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)	1	971	+		Breast(66;0.000776)|Ovarian(120;0.0303)	319					E1P5B3|Q2TBC9|Q6FG47	Silent	SNP	ENST00000252660.4	37	c.957C>T	CCDS5272.1																																																																																				0.403	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2	NM_002377		11	43	0	0	0	1	0	11	43				
DIDO1	11083	broad.mit.edu	37	20	61511322	61511322	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr20:61511322C>T	ENST00000266070.4	-	16	6311	c.5986G>A	c.(5986-5988)Gca>Aca	p.A1996T	DIDO1_ENST00000395343.1_Missense_Mutation_p.A1996T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1996	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GAAAAGGGTGCGGACCCCCGT	0.597																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(5986-5988)Gca>Aca		death inducer-obliterator 1							85.0	105.0	98.0					20																	61511322		2202	4299	6501	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511322C>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5986G>A	20.37:g.61511322C>T	ENSP00000266070:p.Ala1996Thr					DIDO1_ENST00000395343.1_Missense_Mutation_p.A1996T	p.A1996T	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	6311	-	Breast(26;5.68e-08)		1996			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.5986G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	6.840	0.524236	0.13066	.	.	ENSG00000101191	ENST00000266070;ENST00000395343	T;T	0.08984	3.03;3.03	4.91	2.95	0.34219	.	0.339513	0.20856	N	0.084434	T	0.06462	0.0166	L	0.45581	1.43	0.09310	N	0.999999	B	0.21147	0.052	B	0.13407	0.009	T	0.43048	-0.9415	10	0.09843	T	0.71	-4.5369	6.2343	0.20754	0.1314:0.6469:0.0:0.2218	.	1996	Q9BTC0	DIDO1_HUMAN	T	1996	ENSP00000266070:A1996T;ENSP00000378752:A1996T	ENSP00000266070:A1996T	A	-	1	0	DIDO1	60981767	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	0.406000	0.21032	0.573000	0.29400	0.561000	0.74099	GCA		0.597	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		4	144	0	0	0	1	0	4	144				
MTERF4	130916	broad.mit.edu	37	2	242038875	242038875	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:242038875C>T	ENST00000391980.2	-	2	514	c.456G>A	c.(454-456)ttG>ttA	p.L152L	MTERFD2_ENST00000495694.1_Silent_p.L152L|MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Silent_p.L152L|MTERFD2_ENST00000464344.2_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		152					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TAGGCAGTTTCAATAACTGGG	0.463																																						ENST00000391980.2																			0				endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20						c.(454-456)ttG>ttA		MTERF domain containing 2							115.0	116.0	116.0					2																	242038875		2203	4300	6503	SO:0001819	synonymous_variant	130916							g.chr2:242038875C>T																												ENST00000391980.2:c.456G>A	2.37:g.242038875C>T						MTERFD2_ENST00000495694.1_Silent_p.L152L|MTERFD2_ENST00000407095.3_Silent_p.L152L|MTERFD2_ENST00000406593.1_Intron	p.L152L	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)	2	514	-		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	152					A8K6K0|Q9P0E0	Silent	SNP	ENST00000391980.2	37	c.456G>A	CCDS2544.1																																																																																				0.463	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323798.4			22	78	0	0	0	1	0	22	78				
KCNQ4	9132	broad.mit.edu	37	1	41285102	41285102	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:41285102C>G	ENST00000347132.5	+	5	874	c.792C>G	c.(790-792)aaC>aaG	p.N264K	KCNQ4_ENST00000509682.2_Missense_Mutation_p.N264K|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	264					inner ear morphogenesis (GO:0042472)|potassium ion transport (GO:0006813)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		Ezogabine(DB04953)	AGGACGCCAACTCCGACTTCT	0.637																																						ENST00000347132.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26						c.(790-792)aaC>aaG		potassium voltage-gated channel, KQT-like subfamily, member 4							134.0	108.0	117.0					1																	41285102		2203	4300	6503	SO:0001583	missense	9132				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		g.chr1:41285102C>G	AF105202	CCDS456.1	1p34	2012-07-05			ENSG00000117013	ENSG00000117013		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6298	protein-coding gene	gene with protein product		603537		DFNA2		10025409, 16382104	Standard	NM_004700		Approved	Kv7.4	uc001cgh.2	P56696	OTTHUMG00000007730	ENST00000347132.5:c.792C>G	1.37:g.41285102C>G	ENSP00000262916:p.Asn264Lys					KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.N264K	p.N264K	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)		5	874	+	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	264					O96025	Missense_Mutation	SNP	ENST00000347132.5	37	c.792C>G	CCDS456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.06|13.06	2.123382|2.123382	0.37436|0.37436	.|.	.|.	ENSG00000117013|ENSG00000117013	ENST00000443478|ENST00000347132;ENST00000509682	.|D;D	.|0.97553	.|-4.43;-4.43	5.08|5.08	4.17|4.17	0.49024|0.49024	.|Ion transport (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96809|0.96809	0.8958|0.8958	L|L	0.43598|0.43598	1.365|1.365	0.58432|0.58432	D|D	0.999998|0.999998	.|P;D	.|0.89917	.|0.944;1.0	.|P;D	.|0.87578	.|0.718;0.998	D|D	0.95274|0.95274	0.8380|0.8380	5|10	.|0.39692	.|T	.|0.17	-35.2292|-35.2292	7.8426|7.8426	0.29408|0.29408	0.0:0.8113:0.0:0.1887|0.0:0.8113:0.0:0.1887	.|.	.|264;264	.|P56696-2;P56696	.|.;KCNQ4_HUMAN	V|K	160|264	.|ENSP00000262916:N264K;ENSP00000423756:N264K	.|ENSP00000262916:N264K	L|N	+|+	1|3	0|2	KCNQ4|KCNQ4	41057689|41057689	0.088000|0.088000	0.21588|0.21588	0.998000|0.998000	0.56505|0.56505	0.901000|0.901000	0.52897|0.52897	0.222000|0.222000	0.17699|0.17699	1.134000|1.134000	0.42165|0.42165	0.563000|0.563000	0.77884|0.77884	CTC|AAC		0.637	KCNQ4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000020812.1	NM_004700		26	97	0	0	0	1	0	26	97				
WDR54	84058	broad.mit.edu	37	2	74653396	74653396	+	IGR	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:74653396G>A	ENST00000348227.4	+	0	1147				RTKN_ENST00000233330.6_Missense_Mutation_p.R506C|RTKN_ENST00000272430.5_Missense_Mutation_p.R556C|RTKN_ENST00000305557.5_Missense_Mutation_p.R543C	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54											breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						AGCCAAGTGCGAGGTTGGCCT	0.622																																						ENST00000305557.5																			0				endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1627-1629)Cgc>Tgc		rhotekin							104.0	115.0	111.0					2																	74653396		2203	4300	6503	SO:0001628	intergenic_variant	6242				apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity	g.chr2:74653396G>A	AK023015	CCDS1940.1	2p13.1	2013-01-09			ENSG00000005448	ENSG00000005448		"""WD repeat domain containing"""	25770	protein-coding gene	gene with protein product						12477932	Standard	NM_032118		Approved	FLJ12953	uc002slb.3	Q9H977	OTTHUMG00000129951		2.37:g.74653396G>A						RTKN_ENST00000233330.6_Missense_Mutation_p.R506C|RTKN_ENST00000272430.5_Missense_Mutation_p.R556C	p.R543C	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN			13	2212	-			556			Pro-rich.		D6W5I3|Q53H85|Q86V45	Missense_Mutation	SNP	ENST00000348227.4	37	c.1627C>T	CCDS1940.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331742	0.41297	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.36699	1.24;1.24;1.25	5.0	1.07	0.20283	.	0.270137	0.34700	N	0.003760	T	0.21962	0.0529	N	0.19112	0.55	0.09310	N	1	D;P	0.55385	0.971;0.941	B;B	0.43052	0.23;0.406	T	0.13845	-1.0494	10	0.62326	D	0.03	.	7.9225	0.29854	0.0:0.2904:0.4103:0.2994	.	556;543	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	C	543;556;506	ENSP00000305298:R543C;ENSP00000272430:R556C;ENSP00000233330:R506C	ENSP00000233330:R506C	R	-	1	0	RTKN	74506904	0.753000	0.28349	0.000000	0.03702	0.841000	0.47740	0.493000	0.22451	0.086000	0.17137	0.655000	0.94253	CGC		0.622	WDR54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252213.1	NM_032118		42	145	0	0	0	1	0	42	145				
SPON1	10418	broad.mit.edu	37	11	14278223	14278223	+	RNA	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:14278223G>A	ENST00000310358.7	+	0	1829							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		CCTGGCTCCAGAAGAGAAAGA	0.393																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein							157.0	154.0	155.0					11																	14278223		1885	4106	5991			10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14278223G>A	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14278223G>A										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1829	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	SNP	ENST00000310358.7	37			.	.	.	.	.	.	.	.	.	.	G	34	5.300508	0.95601	.	.	ENSG00000152268	ENST00000310358	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.75649	0.3878	.	.	.	0.54753	D	0.999988	D	0.69078	0.997	D	0.75020	0.985	T	0.69179	-0.5213	7	0.20046	T	0.44	.	17.671	0.88217	0.0:0.0:1.0:0.0	.	432	Q9HCB6	SPON1_HUMAN	K	431	.	ENSP00000309297:E431K	E	+	1	0	SPON1	14234799	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.778000	0.95560	0.655000	0.94253	GAA		0.393	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		14	47	0	0	0	1	0	14	47				
MIR1207	100302175	broad.mit.edu	37	8	129061434	129061434	+	RNA	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr8:129061434G>A	ENST00000408249.1	+	0	37					NR_031612.1				microRNA 1207																		GGCTGGCTGGGTCTGGTAGTG	0.567																																						ENST00000408249.1																			0																				49.0	54.0	53.0					8																	129061434		1568	3582	5150			100302175							g.chr8:129061434G>A			8	2011-09-12		2008-12-18	ENSG00000221176	ENSG00000221176		"""ncRNAs / Micro RNAs"""	35273	non-coding RNA	RNA, micro				MIRN1207			Standard	NR_031612		Approved	hsa-mir-1207	uc022bbj.1				8.37:g.129061434G>A								NR_031612.1						0	37	+									RNA	SNP	ENST00000408249.1	37																																																																																						0.567	MIR1207-201	KNOWN	basic	miRNA	miRNA		NR_031612		22	56	0	0	0	1	0	22	56				
TRIM21	6737	broad.mit.edu	37	11	4407008	4407008	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:4407008C>G	ENST00000254436.7	-	7	1047	c.935G>C	c.(934-936)gGa>gCa	p.G312A	TRIM21_ENST00000543625.1_Missense_Mutation_p.G312A	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	312	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein deubiquitination (GO:0090086)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral entry into host cell (GO:0046598)|protein autoubiquitination (GO:0051865)|protein destabilization (GO:0031648)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		CTGGGTGTCTCCAAGCCTCAC	0.502																																						ENST00000254436.7																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16						c.(934-936)gGa>gCa		tripartite motif containing 21							60.0	55.0	57.0					11																	4407008		1946	4132	6078	SO:0001583	missense	6737				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4407008C>G	AF391283	CCDS44525.1	11p15.5-p15.3	2014-02-14	2011-01-25	2004-11-26		ENSG00000132109		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	11312	protein-coding gene	gene with protein product		109092	"""Sjogren syndrome antigen A1 (52kDa, ribonucleoprotein autoantigen SS-A/Ro)"", ""tripartite motif-containing 21"""	SSA1		8094596	Standard	NM_003141		Approved	RNF81, RO52, Ro/SSA	uc001lyy.1	P19474		ENST00000254436.7:c.935G>C	11.37:g.4407008C>G	ENSP00000254436:p.Gly312Ala					TRIM21_ENST00000543625.1_Missense_Mutation_p.G312A	p.G312A	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)	7	1047	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	312			B30.2/SPRY.		Q5XPV5|Q96RF8	Missense_Mutation	SNP	ENST00000254436.7	37	c.935G>C	CCDS44525.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.452|0.452	-0.893283|-0.893283	0.02491|0.02491	.|.	.|.	ENSG00000132109|ENSG00000132109	ENST00000254436;ENST00000543625|ENST00000533692	T;T|.	0.18502|.	2.21;2.21|.	4.14|4.14	2.19|2.19	0.27852|0.27852	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);|.	0.279505|.	0.25991|.	N|.	0.027003|.	T|T	0.41488|0.41488	0.1161|0.1161	L|L	0.42744|0.42744	1.35|1.35	0.27194|0.27194	N|N	0.96036|0.96036	B|.	0.31817|.	0.341|.	B|.	0.32583|.	0.148|.	T|T	0.30238|0.30238	-0.9985|-0.9985	10|5	0.02654|.	T|.	1|.	.|.	12.2618|12.2618	0.54655|0.54655	0.0:0.6714:0.3286:0.0|0.0:0.6714:0.3286:0.0	.|.	312|.	P19474|.	RO52_HUMAN|.	A|C	312|36	ENSP00000254436:G312A;ENSP00000444045:G312A|.	ENSP00000254436:G312A|.	G|W	-|-	2|3	0|0	TRIM21|TRIM21	4363584|4363584	0.001000|0.001000	0.12720|0.12720	0.566000|0.566000	0.28421|0.28421	0.323000|0.323000	0.28346|0.28346	0.964000|0.964000	0.29306|0.29306	0.647000|0.647000	0.30713|0.30713	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.502	TRIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385842.1	NM_003141		3	12	0	0	0	1	0	3	12				
LRP5	4041	broad.mit.edu	37	11	68153966	68153966	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:68153966G>A	ENST00000294304.7	+	6	1304	c.1198G>A	c.(1198-1200)Gcg>Acg	p.A400T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	400	Beta-propeller 2.		A -> E (in OPPG). {ECO:0000269|PubMed:16252235}.		adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCCGCAGGGCGTACCTGGA	0.642																																						ENST00000294304.7																			0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1198-1200)Gcg>Acg		low density lipoprotein receptor-related protein 5							100.0	80.0	87.0					11																	68153966		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68153966G>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.1198G>A	11.37:g.68153966G>A	ENSP00000294304:p.Ala400Thr						p.A400T	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN			6	1304	+			400		A -> E (in OPPG).	Beta-propeller 2.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.1198G>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	G	16.18	3.050792	0.55218	.	.	ENSG00000162337	ENST00000294304	D	0.91180	-2.8	3.81	2.87	0.33458	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.46145	U	0.000302	D	0.90164	0.6926	M	0.76433	2.335	0.58432	D	0.999991	B	0.23128	0.08	B	0.30716	0.119	D	0.88594	0.3145	10	0.66056	D	0.02	.	12.869	0.57955	0.0:0.0:0.8357:0.1643	.	400	O75197	LRP5_HUMAN	T	400	ENSP00000294304:A400T	ENSP00000294304:A400T	A	+	1	0	LRP5	67910542	1.000000	0.71417	0.972000	0.41901	0.891000	0.51852	2.610000	0.46325	0.956000	0.37904	0.449000	0.29647	GCG		0.642	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		17	61	0	0	0	1	0	17	61				
IL17D	53342	broad.mit.edu	37	13	21295937	21295937	+	Silent	SNP	C	C	T	rs374009263		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr13:21295937C>T	ENST00000304920.3	+	3	561	c.453C>T	c.(451-453)ggC>ggT	p.G151G		NM_138284.1	NP_612141.1	Q8TAD2	IL17D_HUMAN	interleukin 17D	151					inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)|skin(1)	2		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)		CCTGCGCCGGCGGCCGTTCCG	0.706													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13448	0.0		0.0	False		,,,				2504	0.0					ENST00000304920.3																			0				endometrium(1)|skin(1)	2						c.(451-453)ggC>ggT		interleukin 17D		C		1,4369		0,1,2184	49.0	52.0	51.0		453	-9.4	0.3	13		51	0,8520		0,0,4260	no	coding-synonymous	IL17D	NM_138284.1		0,1,6444	TT,TC,CC		0.0,0.0229,0.0078		151/203	21295937	1,12889	2185	4260	6445	SO:0001819	synonymous_variant	53342				inflammatory response	extracellular space	cytokine activity	g.chr13:21295937C>T	AY078238	CCDS9292.1	13q11	2008-07-18			ENSG00000172458	ENSG00000172458		"""Interleukins and interleukin receptors"""	5984	protein-coding gene	gene with protein product	"""interleukin 27"""	607587				12097364	Standard	NM_138284		Approved	IL-22, IL-27, IL-17D, IL27, FLJ30846	uc001unm.3	Q8TAD2	OTTHUMG00000016521	ENST00000304920.3:c.453C>T	13.37:g.21295937C>T							p.G151G	NM_138284.1	NP_612141.1	Q8TAD2	IL17D_HUMAN		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)	3	561	+		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	151					B1AM69	Silent	SNP	ENST00000304920.3	37	c.453C>T	CCDS9292.1																																																																																				0.706	IL17D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044087.1	NM_138284		19	113	0	0	0	1	0	19	113				
HMGXB4	10042	broad.mit.edu	37	22	35684398	35684398	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr22:35684398G>C	ENST00000216106.5	+	9	1764	c.1636G>C	c.(1636-1638)Gag>Cag	p.E546Q	HMGXB4_ENST00000444518.2_Missense_Mutation_p.E437Q	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	546					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCAGGAAACTGAGGTGAATAC	0.438																																						ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1636-1638)Gag>Cag		HMG box domain containing 4							91.0	75.0	80.0					22																	35684398		2203	4300	6503	SO:0001583	missense	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35684398G>C	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1636G>C	22.37:g.35684398G>C	ENSP00000216106:p.Glu546Gln					HMGXB4_ENST00000444518.2_Missense_Mutation_p.E437Q	p.E546Q	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			9	1764	+			546					O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	c.1636G>C	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847787	0.91277	.	.	ENSG00000100281	ENST00000444518;ENST00000216106	T;T	0.25250	1.81;1.83	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.52224	0.1721	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.55431	-0.8142	10	0.62326	D	0.03	-23.6057	18.4568	0.90724	0.0:0.0:1.0:0.0	.	546	Q9UGU5	HMGX4_HUMAN	Q	437;546	ENSP00000398302:E437Q;ENSP00000216106:E546Q	ENSP00000216106:E546Q	E	+	1	0	HMGXB4	34014398	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	9.567000	0.98161	2.351000	0.79841	0.563000	0.77884	GAG		0.438	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		8	30	0	0	0	1	0	8	30				
DPH3	285381	broad.mit.edu	37	3	16305733	16305733	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:16305733C>T	ENST00000488423.1	-	2	207	c.112G>A	c.(112-114)Gat>Aat	p.D38N	DPH3_ENST00000383775.4_Intron|OXNAD1_ENST00000606098.1_5'Flank|OXNAD1_ENST00000285083.5_5'Flank|OXNAD1_ENST00000435829.2_5'Flank|DPH3_ENST00000285082.4_5'UTR|OXNAD1_ENST00000605932.1_5'Flank	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN	diphthamide biosynthesis 3	38					negative regulation of protein secretion (GO:0050709)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|positive regulation of binding (GO:0051099)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			large_intestine(2)	2						TTCTCCAAATCTTCCTACAAC	0.448																																						ENST00000488423.1																			0				large_intestine(2)	2						c.(112-114)Gat>Aat		diphthamide biosynthesis 3							117.0	103.0	108.0					3																	16305733		2203	4300	6503	SO:0001583	missense	285381				negative regulation of protein secretion|peptidyl-diphthamide biosynthetic process from peptidyl-histidine|positive regulation of binding	cytoplasm|nucleus	metal ion binding|protein binding	g.chr3:16305733C>T	BC010181	CCDS2629.1, CCDS43058.1	3p25.1	2013-06-19	2013-06-19	2006-10-25	ENSG00000154813	ENSG00000154813			27717	protein-coding gene	gene with protein product	"""DPH3A, KTI11 homolog A (S. cerevisiae)"""	608959	"""zinc finger, CSL-type containing 2"", ""DPH3 homolog (KTI11, S. cerevisiae)"", ""DPH3, KTI11 homolog (S. cerevisiae)"""	ZCSL2		14527407, 14980502, 15485916, 16648478	Standard	NM_001047434		Approved	DESR1, DELGIP1, MGC20197, KTI11, DELGIP, DPH3A	uc003cau.3	Q96FX2	OTTHUMG00000129866	ENST00000488423.1:c.112G>A	3.37:g.16305733C>T	ENSP00000419599:p.Asp38Asn					DPH3_ENST00000383775.4_Intron|DPH3_ENST00000285082.4_5'UTR	p.D38N	NM_206831.2	NP_996662.1	Q96FX2	DPH3_HUMAN			2	207	-			38						Missense_Mutation	SNP	ENST00000488423.1	37	c.112G>A	CCDS2629.1	.	.	.	.	.	.	.	.	.	.	C	36	5.788199	0.96945	.	.	ENSG00000154813	ENST00000488423	.	.	.	5.42	5.42	0.78866	Zinc finger, DPH-type (2);	0.000000	0.85682	D	0.000000	T	0.75576	0.3868	.	.	.	0.80722	D	1	P	0.46912	0.886	P	0.55785	0.784	T	0.77611	-0.2523	8	0.72032	D	0.01	-1.9385	18.347	0.90326	0.0:1.0:0.0:0.0	.	38	Q96FX2	DPH3_HUMAN	N	38	.	ENSP00000419599:D38N	D	-	1	0	DPH3	16280737	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	6.155000	0.71833	2.698000	0.92095	0.455000	0.32223	GAT		0.448	DPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252108.2	NM_206831		4	17	0	0	0	1	0	4	17				
ARID4A	5926	broad.mit.edu	37	14	58790207	58790207	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:58790207G>A	ENST00000355431.3	+	8	827	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	ARID4A_ENST00000395168.3_Missense_Mutation_p.E152K|ARID4A_ENST00000348476.3_Missense_Mutation_p.E152K|ARID4A_ENST00000431317.2_Missense_Mutation_p.E152K	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	152					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTTTAGTACTGAAGATGAAAA	0.328																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(454-456)Gaa>Aaa		AT rich interactive domain 4A (RBP1-like)							87.0	84.0	85.0					14																	58790207		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58790207G>A	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.454G>A	14.37:g.58790207G>A	ENSP00000347602:p.Glu152Lys					ARID4A_ENST00000395168.3_Missense_Mutation_p.E152K|ARID4A_ENST00000348476.3_Missense_Mutation_p.E152K|ARID4A_ENST00000431317.2_Missense_Mutation_p.E152K	p.E152K	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			8	827	+			152					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.454G>A	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132335	0.77662	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000445108;ENST00000431317	T;T;T;T	0.16324	2.36;2.35;2.36;2.35	5.44	5.44	0.79542	.	0.187801	0.56097	D	0.000031	T	0.38506	0.1043	L	0.54323	1.7	0.58432	D	0.999999	D;P;P	0.71674	0.998;0.737;0.508	D;P;B	0.68621	0.959;0.512;0.372	T	0.01468	-1.1347	10	0.40728	T	0.16	-27.7779	19.6391	0.95749	0.0:0.0:1.0:0.0	.	152;152;152	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	K	152;152;152;115;152	ENSP00000347602:E152K;ENSP00000344556:E152K;ENSP00000378597:E152K;ENSP00000397368:E152K	ENSP00000344556:E152K	E	+	1	0	ARID4A	57859960	1.000000	0.71417	0.984000	0.44739	0.593000	0.36681	7.758000	0.85224	2.715000	0.92844	0.655000	0.94253	GAA		0.328	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		11	33	0	0	0	1	0	11	33				
TPO	7173	broad.mit.edu	37	2	1488598	1488598	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:1488598C>T	ENST00000345913.4	+	9	1660	c.1569C>T	c.(1567-1569)ttC>ttT	p.F523F	TPO_ENST00000349624.3_Silent_p.F350F|TPO_ENST00000346956.3_Silent_p.F523F|TPO_ENST00000382201.3_Silent_p.F523F|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000329066.4_Silent_p.F523F|TPO_ENST00000382198.1_Silent_p.F350F|TPO_ENST00000337415.3_Silent_p.F523F	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	523					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACCAGGCTTTCTTCAGCCCAT	0.562																																						ENST00000345913.4																			0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(1567-1569)ttC>ttT		thyroid peroxidase	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)						40.0	43.0	42.0					2																	1488598		2203	4300	6503	SO:0001819	synonymous_variant	7173				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	g.chr2:1488598C>T		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1569C>T	2.37:g.1488598C>T						TPO_ENST00000382198.1_Silent_p.F350F|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Silent_p.F523F|TPO_ENST00000329066.4_Silent_p.F523F|TPO_ENST00000349624.3_Silent_p.F350F|TPO_ENST00000337415.3_Silent_p.F523F|TPO_ENST00000382201.3_Silent_p.F523F	p.F523F	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	9	1660	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	523					P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	ENST00000345913.4	37	c.1569C>T	CCDS1643.1	.	.	.	.	.	.	.	.	.	.	c	1.481	-0.557322	0.03967	.	.	ENSG00000115705	ENST00000446278	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	T	0.65048	0.2654	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63382	-0.6650	4	.	.	.	-42.8553	13.2878	0.60253	0.0:0.9238:0.0:0.0762	.	.	.	.	F	55	.	.	S	+	2	0	TPO	1467605	0.999000	0.42202	1.000000	0.80357	0.037000	0.13140	0.729000	0.26028	2.469000	0.83416	0.556000	0.70494	TCT		0.562	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547		12	81	0	0	0	1	0	12	81				
FIG4	9896	broad.mit.edu	37	6	110113840	110113840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:110113840C>A	ENST00000230124.3	+	21	2556	c.2432C>A	c.(2431-2433)tCa>tAa	p.S811*	FIG4_ENST00000441478.2_Nonsense_Mutation_p.S534*	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	811					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		GATGGCCTCTCAGAAGAAGAT	0.318																																						ENST00000230124.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32						c.(2431-2433)tCa>tAa		FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)							66.0	66.0	66.0					6																	110113840		2203	4299	6502	SO:0001587	stop_gained	9896				cell death	endosome membrane	protein binding	g.chr6:110113840C>A	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.2432C>A	6.37:g.110113840C>A	ENSP00000230124:p.Ser811*					FIG4_ENST00000441478.2_Nonsense_Mutation_p.S534*	p.S811*	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	21	2556	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	811					Q53H49|Q5TCS6	Nonsense_Mutation	SNP	ENST00000230124.3	37	c.2432C>A	CCDS5078.1	.	.	.	.	.	.	.	.	.	.	C	39	7.413765	0.98269	.	.	ENSG00000112367	ENST00000441478;ENST00000230124	.	.	.	5.22	4.36	0.52297	.	0.178984	0.37857	N	0.001910	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0776	13.7956	0.63168	0.0:0.9258:0.0:0.0742	.	.	.	.	X	534;811	.	ENSP00000230124:S811X	S	+	2	0	FIG4	110220533	0.999000	0.42202	1.000000	0.80357	0.669000	0.39330	2.872000	0.48467	1.219000	0.43474	0.313000	0.20887	TCA		0.318	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		10	69	1	0	9.70103e-10	1	1.01905e-09	10	69				
AFF1	4299	broad.mit.edu	37	4	87967403	87967403	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr4:87967403C>T	ENST00000307808.6	+	2	523	c.103C>T	c.(103-105)Cct>Tct	p.P35S	AFF1_ENST00000395146.4_Missense_Mutation_p.P42S|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	35					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGAGGCATTTCCTGAAAAGAT	0.418																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(103-105)Cct>Tct		AF4/FMR2 family, member 1							125.0	125.0	125.0					4																	87967403		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87967403C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.103C>T	4.37:g.87967403C>T	ENSP00000305689:p.Pro35Ser					AFF1_ENST00000395146.4_Missense_Mutation_p.P42S|AFF1_ENST00000544085.1_Intron	p.P35S	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	2	523	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	35					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.103C>T	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387614	0.42308	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000507468;ENST00000503477;ENST00000307808	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.73	3.98	0.46160	.	0.394451	0.27442	N	0.019352	T	0.49915	0.1585	N	0.12569	0.235	0.80722	D	1	P;B;B;B;P	0.49447	0.924;0.007;0.075;0.075;0.924	P;B;B;B;P	0.52909	0.713;0.026;0.043;0.043;0.713	T	0.45571	-0.9252	10	0.35671	T	0.21	-5.8504	6.009	0.19565	0.131:0.6529:0.0:0.2161	.	42;42;35;35;42	E9PBM3;B4DXZ8;Q14C88;P51825;B4DTU1	.;.;.;AFF1_HUMAN;.	S	42;42;42;42;35	ENSP00000378578:P42S;ENSP00000427593:P42S;ENSP00000424483:P42S;ENSP00000305689:P35S	ENSP00000305689:P35S	P	+	1	0	AFF1	88186427	0.000000	0.05858	1.000000	0.80357	0.903000	0.53119	-0.132000	0.10467	0.845000	0.35118	0.655000	0.94253	CCT		0.418	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		30	121	0	0	0	1	0	30	121				
SLC25A19	60386	broad.mit.edu	37	17	73273537	73273537	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:73273537C>T	ENST00000402418.3	-	5	1580	c.671G>A	c.(670-672)aGt>aAt	p.S224N	SLC25A19_ENST00000416858.2_Missense_Mutation_p.S224N|SLC25A19_ENST00000580994.1_Missense_Mutation_p.S224N|SLC25A19_ENST00000320362.3_Missense_Mutation_p.S224N|SLC25A19_ENST00000375261.4_Missense_Mutation_p.S167N|SLC25A19_ENST00000442286.2_Missense_Mutation_p.S224N			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	224					deoxynucleotide transport (GO:0030302)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	deoxynucleotide transmembrane transporter activity (GO:0030233)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			ACCAGCTCCACTGCCACAAAG	0.517																																						ENST00000402418.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						c.(670-672)aGt>aAt		solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19							91.0	80.0	84.0					17																	73273537		2203	4300	6503	SO:0001583	missense	60386					integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity	g.chr17:73273537C>T		CCDS11720.1	17q25.1	2013-05-22	2007-03-08		ENSG00000125454	ENSG00000125454		"""Solute carriers"""	14409	protein-coding gene	gene with protein product		606521	"""solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19"", ""microcephaly, Amish"""	MCPHA		11474176, 11226231, 19798730	Standard	NM_021734		Approved	DNC, MUP1, TPC	uc002jnw.4	Q9HC21		ENST00000402418.3:c.671G>A	17.37:g.73273537C>T	ENSP00000385312:p.Ser224Asn					SLC25A19_ENST00000320362.3_Missense_Mutation_p.S224N|SLC25A19_ENST00000416858.2_Missense_Mutation_p.S224N|SLC25A19_ENST00000375261.4_Missense_Mutation_p.S167N|SLC25A19_ENST00000442286.2_Missense_Mutation_p.S224N|SLC25A19_ENST00000580994.1_Missense_Mutation_p.S224N	p.S224N			Q9HC21	TPC_HUMAN	all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)		5	1580	-	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		224					E9PF74|Q6V9R7	Missense_Mutation	SNP	ENST00000402418.3	37	c.671G>A	CCDS11720.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294899	0.81025	.	.	ENSG00000125454	ENST00000416858;ENST00000442286;ENST00000320362;ENST00000402418;ENST00000375261	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	5.35	4.36	0.52297	Mitochondrial carrier domain (2);	0.266788	0.48286	D	0.000186	D	0.85270	0.5658	M	0.67700	2.07	0.33211	D	0.553371	D;P	0.56968	0.978;0.953	P;P	0.55455	0.776;0.673	D	0.88723	0.3231	10	0.38643	T	0.18	-2.431	15.5097	0.75769	0.0:0.8609:0.1391:0.0	.	167;224	E9PF74;Q9HC21	.;TPC_HUMAN	N	224;224;224;224;167	ENSP00000397818:S224N;ENSP00000402202:S224N;ENSP00000319574:S224N;ENSP00000385312:S224N;ENSP00000364410:S167N	ENSP00000319574:S224N	S	-	2	0	SLC25A19	70785132	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	3.066000	0.50002	1.223000	0.43536	0.650000	0.86243	AGT		0.517	SLC25A19-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447282.1	NM_021734		22	48	0	0	0	1	0	22	48				
SPTY2D1	144108	broad.mit.edu	37	11	18637573	18637573	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:18637573C>T	ENST00000336349.5	-	3	483	c.248G>A	c.(247-249)aGa>aAa	p.R83K	SPTY2D1_ENST00000543776.1_5'UTR	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	83										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GGCCATAGCTCTTGCTTTCTT	0.403																																						ENST00000336349.5																			0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(247-249)aGa>aAa		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							174.0	148.0	157.0					11																	18637573		2199	4293	6492	SO:0001583	missense	144108							g.chr11:18637573C>T	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.248G>A	11.37:g.18637573C>T	ENSP00000337991:p.Arg83Lys					SPTY2D1_ENST00000543776.1_5'UTR	p.R83K	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN			3	483	-			83					Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	c.248G>A	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375662	0.61735	.	.	ENSG00000179119	ENST00000336349;ENST00000333429	T	0.38077	1.16	5.63	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	M	0.64170	1.965	0.52501	D	0.999959	B	0.22541	0.071	B	0.22386	0.039	T	0.23655	-1.0182	10	0.51188	T	0.08	-18.7348	14.507	0.67761	0.0:0.9293:0.0:0.0707	.	83	Q68D10	SPT2_HUMAN	K	83	ENSP00000337991:R83K	ENSP00000331447:R83K	R	-	2	0	SPTY2D1	18594149	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.747000	0.85070	1.383000	0.46405	0.563000	0.77884	AGA		0.403	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		6	61	0	0	0	1	0	6	61				
PPP1R16B	26051	broad.mit.edu	37	20	37534656	37534656	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr20:37534656C>T	ENST00000299824.1	+	7	930	c.741C>T	c.(739-741)ctC>ctT	p.L247L	PPP1R16B_ENST00000373331.2_Intron	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	247					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGCTGAGCTCCTCCTGGACC	0.597																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(739-741)ctC>ctT		protein phosphatase 1, regulatory subunit 16B							105.0	92.0	96.0					20																	37534656		2203	4300	6503	SO:0001819	synonymous_variant	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37534656C>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.741C>T	20.37:g.37534656C>T						PPP1R16B_ENST00000373331.2_Intron	p.L247L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			7	930	+		Myeloproliferative disorder(115;0.00878)	247					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Silent	SNP	ENST00000299824.1	37	c.741C>T	CCDS13309.1																																																																																				0.597	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		25	41	0	0	0	1	0	25	41				
PLA2G4D	283748	broad.mit.edu	37	15	42373213	42373213	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr15:42373213C>T	ENST00000290472.3	-	12	1170	c.1076G>A	c.(1075-1077)gGc>gAc	p.G359D		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	359	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GCCAGAGATGCCACTGAAGTA	0.607																																						ENST00000290472.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27						c.(1075-1077)gGc>gAc		phospholipase A2, group IVD (cytosolic)							116.0	85.0	96.0					15																	42373213		2203	4299	6502	SO:0001583	missense	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42373213C>T	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.1076G>A	15.37:g.42373213C>T	ENSP00000290472:p.Gly359Asp						p.G359D	NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	12	1170	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	359			PLA2c.		Q8N176	Missense_Mutation	SNP	ENST00000290472.3	37	c.1076G>A	CCDS32203.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.359547	0.61403	.	.	ENSG00000159337	ENST00000290472	T	0.37752	1.18	4.32	4.32	0.51571	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.185763	0.32655	N	0.005814	T	0.68622	0.3021	M	0.93016	3.37	0.58432	D	0.99999	D	0.89917	1.0	D	0.81914	0.995	T	0.79220	-0.1893	10	0.87932	D	0	-10.2883	16.4097	0.83704	0.0:1.0:0.0:0.0	.	359	Q86XP0	PA24D_HUMAN	D	359	ENSP00000290472:G359D	ENSP00000290472:G359D	G	-	2	0	PLA2G4D	40160505	1.000000	0.71417	0.987000	0.45799	0.393000	0.30537	5.526000	0.67116	1.950000	0.56595	0.561000	0.74099	GGC		0.607	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		11	33	0	0	0	1	0	11	33				
ZNF416	55659	broad.mit.edu	37	19	58084885	58084885	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:58084885C>G	ENST00000196489.3	-	4	609	c.387G>C	c.(385-387)ttG>ttC	p.L129F		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ATGCCCCAGTCAAGTATAGTT	0.517																																						ENST00000196489.3																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22						c.(385-387)ttG>ttC		zinc finger protein 416							104.0	84.0	91.0					19																	58084885		2203	4300	6503	SO:0001583	missense	55659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58084885C>G	BC000130	CCDS12954.1	19q13.4	2013-01-08				ENSG00000083817		"""Zinc fingers, C2H2-type"", ""-"""	20645	protein-coding gene	gene with protein product							Standard	NM_017879		Approved	FLJ20557	uc002qpf.3	Q9BWM5		ENST00000196489.3:c.387G>C	19.37:g.58084885C>G	ENSP00000196489:p.Leu129Phe						p.L129F	NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)	4	609	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	129					Q9NWW8	Missense_Mutation	SNP	ENST00000196489.3	37	c.387G>C	CCDS12954.1	.	.	.	.	.	.	.	.	.	.	C	2.825	-0.243892	0.05906	.	.	ENSG00000083817	ENST00000196489;ENST00000359489;ENST00000428052	T	0.07567	3.18	3.34	-4.66	0.03329	.	.	.	.	.	T	0.05044	0.0135	N	0.25485	0.75	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47761	-0.9092	9	0.09590	T	0.72	.	11.8107	0.52181	0.7578:0.2422:0.0:0.0	.	129	Q9BWM5	ZN416_HUMAN	F	129;115;109	ENSP00000196489:L129F	ENSP00000196489:L129F	L	-	3	2	ZNF416	62776697	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.952000	0.01528	-0.899000	0.03901	-0.241000	0.12123	TTG		0.517	ZNF416-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466787.1	NM_017879		3	28	0	0	0	1	0	3	28				
MIA3	375056	broad.mit.edu	37	1	222802495	222802495	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:222802495G>A	ENST00000344922.5	+	4	1958	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.E645K|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	645					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CAGAGAACTGGAAGACGAGGT	0.448																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(1933-1935)Gaa>Aaa		melanoma inhibitory activity family, member 3							99.0	98.0	98.0					1																	222802495		1842	4104	5946	SO:0001583	missense	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222802495G>A		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1933G>A	1.37:g.222802495G>A	ENSP00000340900:p.Glu645Lys					MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.E645K	p.E645K	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	4	1958	+			645					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	ENST00000344922.5	37	c.1933G>A	CCDS41470.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.804|7.804	0.714244|0.714244	0.15306|0.15306	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.05025|.	3.51;3.51|.	4.48|4.48	1.5|1.5	0.22942|0.22942	.|.	.|.	.|.	.|.	.|.	T|T	0.26846|0.26846	0.0657|0.0657	N|N	0.13235|0.13235	0.315|0.315	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.12156|.	0.007;0.002|.	T|T	0.22591|0.22591	-1.0212|-1.0212	9|5	0.08837|.	T|.	0.75|.	.|.	11.2644|11.2644	0.49101|0.49101	0.2993:0.0:0.7007:0.0|0.2993:0.0:0.7007:0.0	.|.	645;645|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	K|E	645|227	ENSP00000340900:E645K;ENSP00000340587:E645K|.	ENSP00000325973:E645K|.	E|G	+|+	1|2	0|0	MIA3|MIA3	220869118|220869118	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.109000|0.109000	0.19521|0.19521	-0.114000|-0.114000	0.10757|0.10757	-0.125000|-0.125000	0.11703|0.11703	-1.786000|-1.786000	0.00637|0.00637	GAA|GGA		0.448	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		7	116	0	0	0	1	0	7	116				
GCKR	2646	broad.mit.edu	37	2	27730604	27730604	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:27730604C>T	ENST00000264717.2	+	14	1263	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L	GCKR_ENST00000424318.2_Silent_p.L210L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	400	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TTCCCTCTCTCACGGAAATCG	0.547																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(1198-1200)ctC>ctT		glucokinase (hexokinase 4) regulator							99.0	91.0	94.0					2																	27730604		2203	4300	6503	SO:0001819	synonymous_variant	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27730604C>T	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1200C>T	2.37:g.27730604C>T						GCKR_ENST00000424318.2_Silent_p.L210L	p.L400L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			14	1263	+	Acute lymphoblastic leukemia(172;0.155)		400			SIS 2.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Silent	SNP	ENST00000264717.2	37	c.1200C>T	CCDS1757.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.577993	0.00879	.	.	ENSG00000084734	ENST00000411584	.	.	.	4.52	0.612	0.17591	.	.	.	.	.	T	0.23688	0.0573	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24764	-1.0151	4	.	.	.	-2.2313	3.9834	0.09504	0.0:0.5208:0.1768:0.3024	.	.	.	.	L	101	.	.	S	+	2	0	GCKR	27584108	0.001000	0.12720	0.001000	0.08648	0.016000	0.09150	-0.515000	0.06290	-0.082000	0.12640	0.655000	0.94253	TCA		0.547	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		10	50	0	0	0	1	0	10	50				
ATP1A4	480	broad.mit.edu	37	1	160143991	160143991	+	Silent	SNP	C	C	T	rs573699765	byFrequency	TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:160143991C>T	ENST00000368081.4	+	14	2553	c.2082C>T	c.(2080-2082)atC>atT	p.I694I	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	694					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			accctgagatcgtgtttgctc	0.527													C|||	2	0.000399361	0.0	0.0	5008	,	,		20619	0.0		0.0	False		,,,				2504	0.002					ENST00000368081.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75						c.(2080-2082)atC>atT		ATPase, Na+/K+ transporting, alpha 4 polypeptide							123.0	110.0	115.0					1																	160143991		2203	4300	6503	SO:0001819	synonymous_variant	480				ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160143991C>T	BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.2082C>T	1.37:g.160143991C>T						ATP1A4_ENST00000418334.1_3'UTR	p.I694I	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		14	2553	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		694					Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Silent	SNP	ENST00000368081.4	37	c.2082C>T	CCDS1197.1																																																																																				0.527	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699		24	39	0	0	0	1	0	24	39				
CACNA1H	8912	broad.mit.edu	37	16	1246017	1246017	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr16:1246017G>A	ENST00000348261.5	+	5	885	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V213M|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V213M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	213					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)	CATCAACCGCGTGCCTAGTAA	0.652																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(637-639)Gtg>Atg		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)						41.0	49.0	47.0					16																	1246017		2016	4165	6181	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.chr16:1246017G>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.637G>A	16.37:g.1246017G>A	ENSP00000334198:p.Val213Met					CACNA1H_ENST00000358590.4_Missense_Mutation_p.V213M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V213M	p.V213M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			5	885	+		Hepatocellular(780;0.00369)	213					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	c.637G>A	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447525	0.63178	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.98649	-5.05;-5.05	4.23	4.23	0.50019	Ion transport (1);	0.149470	0.44688	N	0.000436	D	0.99080	0.9684	M	0.83774	2.66	0.40988	D	0.984831	D;D	0.89917	1.0;1.0	D;D	0.91635	0.992;0.999	D	0.99875	1.1103	10	0.87932	D	0	.	15.9489	0.79817	0.0:0.0:1.0:0.0	.	213;213	O95180-2;O95180	.;CAC1H_HUMAN	M	213	ENSP00000334198:V213M;ENSP00000351401:V213M	ENSP00000334198:V213M	V	+	1	0	CACNA1H	1186018	1.000000	0.71417	0.923000	0.36655	0.020000	0.10135	9.594000	0.98254	2.061000	0.61500	0.478000	0.44815	GTG		0.652	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		25	47	0	0	0	1	0	25	47				
ABCA4	24	broad.mit.edu	37	1	94544910	94544910	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:94544910C>A	ENST00000370225.3	-	9	1293	c.1207G>T	c.(1207-1209)Gat>Tat	p.D403Y	ABCA4_ENST00000535735.1_Missense_Mutation_p.D403Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	403					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCAGGTGAATCAGGAGTGTAC	0.493																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(1207-1209)Gat>Tat		ATP-binding cassette, sub-family A (ABC1), member 4							133.0	126.0	128.0					1																	94544910		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94544910C>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1207G>T	1.37:g.94544910C>A	ENSP00000359245:p.Asp403Tyr					ABCA4_ENST00000535735.1_Missense_Mutation_p.D403Y	p.D403Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	9	1293	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	403					O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.1207G>T	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112687	0.56398	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.86366	-2.11;-2.11	5.36	3.48	0.39840	.	0.154190	0.56097	D	0.000031	D	0.89238	0.6658	M	0.80183	2.485	0.48452	D	0.999656	D;D	0.89917	1.0;0.985	D;P	0.80764	0.994;0.781	D	0.87125	0.2193	10	0.20046	T	0.44	.	11.0895	0.48108	0.0:0.7922:0.0:0.2078	.	403;403	F5H6E5;P78363	.;ABCA4_HUMAN	Y	403	ENSP00000359245:D403Y;ENSP00000437682:D403Y	ENSP00000359245:D403Y	D	-	1	0	ABCA4	94317498	0.989000	0.36119	0.806000	0.32338	0.788000	0.44548	2.858000	0.48356	0.825000	0.34637	0.561000	0.74099	GAT		0.493	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		25	63	1	0	7.07758e-08	1	7.36712e-08	25	63				
SPEN	23013	broad.mit.edu	37	1	16258490	16258490	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:16258490C>T	ENST00000375759.3	+	11	5959	c.5755C>T	c.(5755-5757)Cct>Tct	p.P1919S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1919					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAACCGCTCTCCTGTCAAAGA	0.562																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(5755-5757)Cct>Tct		spen family transcriptional repressor							64.0	67.0	66.0					1																	16258490		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16258490C>T		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5755C>T	1.37:g.16258490C>T	ENSP00000364912:p.Pro1919Ser						p.P1919S	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	5959	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1919					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.5755C>T	CCDS164.1	.	.	.	.	.	.	.	.	.	.	C	9.892	1.204617	0.22205	.	.	ENSG00000065526	ENST00000375759	T	0.09723	2.95	4.8	4.8	0.61643	.	.	.	.	.	T	0.13970	0.0338	L	0.54323	1.7	0.29915	N	0.823253	B	0.26081	0.141	B	0.27076	0.076	T	0.02391	-1.1166	9	0.40728	T	0.16	-9.5365	13.8934	0.63755	0.0:0.8472:0.1528:0.0	.	1919	Q96T58	MINT_HUMAN	S	1919	ENSP00000364912:P1919S	ENSP00000364912:P1919S	P	+	1	0	SPEN	16131077	0.960000	0.32886	0.995000	0.50966	0.234000	0.25298	3.886000	0.56190	2.372000	0.80975	0.313000	0.20887	CCT		0.562	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		4	115	0	0	0	1	0	4	115				
GPATCH3	63906	broad.mit.edu	37	1	27224089	27224089	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:27224089C>T	ENST00000361720.5	-	2	602	c.579G>A	c.(577-579)ggG>ggA	p.G193G		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	193							nucleic acid binding (GO:0003676)			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TCCCCACATTCCCTCTGGGCA	0.602																																						ENST00000361720.5																			0				endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15						c.(577-579)ggG>ggA		G patch domain containing 3							46.0	48.0	47.0					1																	27224089		2203	4300	6503	SO:0001819	synonymous_variant	63906					intracellular	nucleic acid binding	g.chr1:27224089C>T	BC007767	CCDS290.1	1p35.3-p35.1	2013-01-28		2006-12-13	ENSG00000198746	ENSG00000198746		"""G patch domain containing"""	25720	protein-coding gene	gene with protein product				GPATC3			Standard	NM_022078		Approved	FLJ12455	uc001bne.3	Q96I76	OTTHUMG00000004229	ENST00000361720.5:c.579G>A	1.37:g.27224089C>T							p.G193G	NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)	2	602	-		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)	193					Q5JYH2|Q8NDJ2|Q9H9Z3	Silent	SNP	ENST00000361720.5	37	c.579G>A	CCDS290.1																																																																																				0.602	GPATCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012181.1	NM_022078		12	50	0	0	0	1	0	12	50				
PRG4	10216	broad.mit.edu	37	1	186276382	186276382	+	Missense_Mutation	SNP	A	A	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:186276382A>C	ENST00000445192.2	+	7	1576	c.1531A>C	c.(1531-1533)Acc>Ccc	p.T511P	PRG4_ENST00000367486.3_Missense_Mutation_p.T468P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T418P|PRG4_ENST00000367483.4_Missense_Mutation_p.T470P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	511	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGGAGCC	0.637																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1531-1533)Acc>Ccc		proteoglycan 4							119.0	115.0	116.0					1																	186276382		2203	4299	6502	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276382A>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1531A>C	1.37:g.186276382A>C	ENSP00000399679:p.Thr511Pro					PRG4_ENST00000367483.4_Missense_Mutation_p.T470P|PRG4_ENST00000367485.4_Missense_Mutation_p.T418P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T468P	p.T511P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1576	+			511			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1531A>C	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	a	4.099	0.016364	0.07959	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05025	3.54;3.65;3.51;3.63	2.83	-1.42	0.08913	.	.	.	.	.	T	0.02688	0.0081	N	0.03194	-0.395	0.09310	N	0.999999	B;B;B;B	0.09022	0.002;0.002;0.0;0.002	B;B;B;B	0.09377	0.004;0.004;0.002;0.004	T	0.48055	-0.9068	8	.	.	.	.	10.6375	0.45573	0.4407:0.5593:0.0:0.0	.	377;418;511;470	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	P	468;377;470;418;511	ENSP00000356456:T468P;ENSP00000356453:T470P;ENSP00000356455:T418P;ENSP00000399679:T511P	.	T	+	1	0	PRG4	184543005	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-5.202000	0.00142	-0.014000	0.14175	-0.968000	0.02614	ACC		0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		12	179	0	0	0	1	0	12	179				
WDR17	116966	broad.mit.edu	37	4	177084360	177084360	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr4:177084360G>C	ENST00000280190.4	+	23	3134	c.2978G>C	c.(2977-2979)gGc>gCc	p.G993A	WDR17_ENST00000393643.2_Missense_Mutation_p.G969A|WDR17_ENST00000507824.2_Missense_Mutation_p.G976A|WDR17_ENST00000508596.1_Missense_Mutation_p.G969A			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	993										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GTCTGTGTGGGCACAGTACTA	0.433																																						ENST00000393643.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(2905-2907)gGc>gCc		WD repeat domain 17							145.0	134.0	138.0					4																	177084360		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177084360G>C	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2978G>C	4.37:g.177084360G>C	ENSP00000280190:p.Gly993Ala					WDR17_ENST00000508596.1_Missense_Mutation_p.G969A|WDR17_ENST00000280190.4_Missense_Mutation_p.G993A|WDR17_ENST00000507824.2_Missense_Mutation_p.G976A	p.G969A	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	22	3158	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	993					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2906G>C	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701597	0.68501	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.59083	0.46;0.36;0.29	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.74023	0.3662	L	0.61036	1.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.70040	-0.4981	10	0.30078	T	0.28	-15.2699	19.2072	0.93736	0.0:0.0:1.0:0.0	.	969;969;993	E7EP77;E7EQX0;Q8IZU2	.;.;WDR17_HUMAN	A	969;969;993;976	ENSP00000422763:G969A;ENSP00000377258:G969A;ENSP00000280190:G993A	ENSP00000280190:G993A	G	+	2	0	WDR17	177321354	1.000000	0.71417	0.990000	0.47175	0.948000	0.59901	8.992000	0.93519	2.532000	0.85374	0.655000	0.94253	GGC		0.433	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			15	45	0	0	0	1	0	15	45				
ABCA1	19	broad.mit.edu	37	9	107555499	107555499	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr9:107555499G>C	ENST00000374736.3	-	41	5983	c.5589C>G	c.(5587-5589)ttC>ttG	p.F1863L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1863					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	TAATGAGGAAGAACACCACCC	0.517																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(5587-5589)ttC>ttG		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						154.0	134.0	141.0					9																	107555499		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107555499G>C	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5589C>G	9.37:g.107555499G>C	ENSP00000363868:p.Phe1863Leu						p.F1863L	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	41	5983	-			1863					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.5589C>G	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.235522	0.58886	.	.	ENSG00000165029	ENST00000374736	D	0.86366	-2.11	5.97	3.15	0.36227	.	0.194552	0.56097	D	0.000039	D	0.82458	0.5041	L	0.52266	1.64	0.80722	D	1	B	0.06786	0.001	B	0.20184	0.028	T	0.75593	-0.3264	10	0.54805	T	0.06	.	9.1273	0.36824	0.3411:0.0:0.6589:0.0	.	1863	O95477	ABCA1_HUMAN	L	1863	ENSP00000363868:F1863L	ENSP00000363868:F1863L	F	-	3	2	ABCA1	106595320	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.680000	0.61656	0.421000	0.25980	0.655000	0.94253	TTC		0.517	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		7	104	0	0	0	1	0	7	104				
MED29	55588	broad.mit.edu	37	19	39883109	39883109	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:39883109G>C	ENST00000599213.2	+	2	249	c.222G>C	c.(220-222)ttG>ttC	p.L74F	PAF1_ENST00000595564.1_5'Flank|PAF1_ENST00000221265.3_5'Flank|PAF1_ENST00000221266.7_5'Flank|MED29_ENST00000594368.1_Missense_Mutation_p.L74F|MED29_ENST00000315588.5_Missense_Mutation_p.L95F			Q9NX70	MED29_HUMAN	mediator complex subunit 29	74	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)				lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACTAGACCTTGATGAAGGTTG	0.433																																						ENST00000315588.5																			0				lung(2)|ovary(1)|pancreas(1)	4						c.(283-285)ttG>ttC		mediator complex subunit 29							112.0	109.0	110.0					19																	39883109		2203	4300	6503	SO:0001583	missense	55588				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding	g.chr19:39883109G>C	AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70		ENST00000599213.2:c.222G>C	19.37:g.39883109G>C	ENSP00000471802:p.Leu74Phe					MED29_ENST00000599213.2_Missense_Mutation_p.L74F|MED29_ENST00000594368.1_Missense_Mutation_p.L74F	p.L95F	NM_017592.1	NP_060062.1	Q9NX70	MED29_HUMAN	Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		2	334	+	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		74					B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Missense_Mutation	SNP	ENST00000599213.2	37	c.285G>C		.	.	.	.	.	.	.	.	.	.	G	16.00	2.997944	0.54147	.	.	ENSG00000063322	ENST00000315588;ENST00000435462	.	.	.	4.43	3.39	0.38822	.	0.164727	0.39020	N	0.001494	T	0.58921	0.2156	L	0.44542	1.39	0.37756	D	0.926157	D;D	0.89917	1.0;0.993	D;D	0.77557	0.99;0.94	T	0.62520	-0.6837	9	0.62326	D	0.03	-26.1584	5.7893	0.18351	0.1059:0.1989:0.6952:0.0	.	74;95	Q9NX70;B4DUA7	MED29_HUMAN;.	F	95;13	.	ENSP00000314343:L95F	L	+	3	2	MED29	44574949	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	1.293000	0.33353	1.062000	0.40625	0.563000	0.77884	TTG		0.433	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1	XM_290829		6	32	0	0	0	1	0	6	32				
THSD7A	221981	broad.mit.edu	37	7	11500389	11500389	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:11500389C>T	ENST00000423059.4	-	11	2756	c.2505G>A	c.(2503-2505)tgG>tgA	p.W835*	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	835					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGTGAGTCTTCCACCTACAAG	0.532										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(2503-2505)tgG>tgA		thrombospondin, type I, domain containing 7A							37.0	38.0	38.0					7																	11500389		2003	4179	6182	SO:0001587	stop_gained	221981					integral to membrane		g.chr7:11500389C>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.2505G>A	7.37:g.11500389C>T	ENSP00000406482:p.Trp835*	HNSCC(18;0.044)				AC004538.3_ENST00000445839.1_RNA	p.W835*	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	11	2756	-			835						Nonsense_Mutation	SNP	ENST00000423059.4	37	c.2505G>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	C	42	9.671588	0.99234	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2101	0.93751	0.0:1.0:0.0:0.0	.	.	.	.	X	835	.	ENSP00000262042:W835X	W	-	3	0	THSD7A	11466914	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	7.202000	0.77856	2.717000	0.92951	0.655000	0.94253	TGG		0.532	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		5	13	0	0	0	1	0	5	13				
PHLDA1	22822	broad.mit.edu	37	12	76424831	76424831	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:76424831C>T	ENST00000266671.5	-	1	2881	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Missense_Mutation_p.E90K|RP11-290L1.2_ENST00000547721.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	231	PH.				apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				AAGTGCAGTTCCTTGAGCTTG	0.627																																						ENST00000266671.5																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14						c.(691-693)Gaa>Aaa		pleckstrin homology-like domain, family A, member 1							84.0	69.0	74.0					12																	76424831		2203	4300	6503	SO:0001583	missense	22822				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding	g.chr12:76424831C>T	Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"""proline-histidine rich protein"""	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.691G>A	12.37:g.76424831C>T	ENSP00000266671:p.Glu231Lys					RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Missense_Mutation_p.E90K	p.E231K			Q8WV24	PHLA1_HUMAN			1	2881	-		Colorectal(145;0.09)	231			PH.		A1A4G9|Q15184|Q2TAN2|Q9NZ17	Missense_Mutation	SNP	ENST00000266671.5	37	c.691G>A	CCDS31861.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875153	0.91664	.	.	ENSG00000139289	ENST00000266671;ENST00000421361	T	0.59502	0.26	4.66	3.76	0.43208	Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.51601	0.1684	L	0.31926	0.97	0.50171	D	0.99985	P	0.46784	0.884	P	0.46253	0.509	T	0.56721	-0.7932	10	0.87932	D	0	-10.3728	12.2814	0.54765	0.0:0.9165:0.0:0.0835	.	231	Q8WV24	PHLA1_HUMAN	K	231;90	ENSP00000266671:E231K	ENSP00000266671:E231K	E	-	1	0	PHLDA1	74711098	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.677000	0.54619	1.173000	0.42796	0.561000	0.74099	GAA		0.627	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405846.2	NM_007350		7	79	0	0	0	1	0	7	79				
GRK7	131890	broad.mit.edu	37	3	141497652	141497652	+	Missense_Mutation	SNP	C	C	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:141497652C>A	ENST00000264952.2	+	1	663	c.526C>A	c.(526-528)Ctg>Atg	p.L176M		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	176	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CGACAAGTTTCTGCAGTGGAA	0.532																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(526-528)Ctg>Atg		G protein-coupled receptor kinase 7							88.0	90.0	89.0					3																	141497652		2203	4300	6503	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141497652C>A		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.526C>A	3.37:g.141497652C>A	ENSP00000264952:p.Leu176Met						p.L176M	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			1	663	+			176			RGS.			Missense_Mutation	SNP	ENST00000264952.2	37	c.526C>A	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	C	13.18	2.161333	0.38119	.	.	ENSG00000114124	ENST00000264952	T	0.03242	4.0	4.79	2.57	0.30868	Regulator of G protein signalling (2);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000001	T	0.07999	0.0200	L	0.59436	1.845	0.42169	D	0.991637	D	0.57899	0.981	P	0.52758	0.708	T	0.08289	-1.0729	10	0.72032	D	0.01	-11.3717	7.314	0.26491	0.1044:0.6444:0.1029:0.1483	.	176	Q8WTQ7	GRK7_HUMAN	M	176	ENSP00000264952:L176M	ENSP00000264952:L176M	L	+	1	2	GRK7	142980342	0.344000	0.24827	1.000000	0.80357	0.744000	0.42396	0.835000	0.27531	0.438000	0.26450	-1.119000	0.02030	CTG		0.532	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		14	85	1	0	6.31663e-08	1	6.60506e-08	14	85				
SYNJ2BP	55333	broad.mit.edu	37	14	70855193	70855193	+	Silent	SNP	G	G	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:70855193G>T	ENST00000256366.4	-	2	276	c.195C>A	c.(193-195)atC>atA	p.I65I	SYNJ2BP-COX16_ENST00000555276.1_RNA|SYNJ2BP_ENST00000554216.1_Intron	NM_018373.2	NP_060843.2	P57105	SYJ2B_HUMAN	synaptojanin 2 binding protein	65	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				intracellular distribution of mitochondria (GO:0048312)|negative regulation of activin receptor signaling pathway (GO:0032926)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of receptor internalization (GO:0002092)	cell surface (GO:0009986)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrion (GO:0005739)				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		TCACCGAAAGGATCTTATCAC	0.542																																						ENST00000256366.4																			0				central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5						c.(193-195)atC>atA		synaptojanin 2 binding protein							68.0	58.0	61.0					14																	70855193		2203	4300	6503	SO:0001819	synonymous_variant	55333							g.chr14:70855193G>T	AK002133	CCDS9803.1	14q24.2	2013-05-10			ENSG00000213463	ENSG00000213463			18955	protein-coding gene	gene with protein product	"""activin receptor interacting protein 5"""	609411				11882656	Standard	NM_018373		Approved	Arip2		P57105	OTTHUMG00000171240	ENST00000256366.4:c.195C>A	14.37:g.70855193G>T						SYNJ2BP_ENST00000554216.1_Intron|RP11-718G2.3_ENST00000555276.1_RNA	p.I65I	NM_018373.2	NP_060843.2				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)	2	276	-								Q49SH3|Q96IA4	Silent	SNP	ENST00000256366.4	37	c.195C>A	CCDS9803.1																																																																																				0.542	SYNJ2BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412472.1	NM_018373		7	26	1	0	1.06961e-07	1	1.10833e-07	7	26				
PKDREJ	10343	broad.mit.edu	37	22	46658489	46658489	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr22:46658489G>A	ENST00000253255.5	-	1	730	c.731C>T	c.(730-732)tCg>tTg	p.S244L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	244	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CAGCTGCACCGAGGCGTTGAT	0.697																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(730-732)tCg>tTg		polycystin (PKD) family receptor for egg jelly							24.0	26.0	25.0					22																	46658489		2203	4298	6501	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658489G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.731C>T	22.37:g.46658489G>A	ENSP00000253255:p.Ser244Leu						p.S244L	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	730	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	244			REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.731C>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806099	0.31961	.	.	ENSG00000130943	ENST00000253255	T	0.69685	-0.42	3.6	3.6	0.41247	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.797952	0.10834	U	0.628958	T	0.36386	0.0965	N	0.03608	-0.345	0.09310	N	1	P	0.38110	0.618	B	0.26517	0.07	T	0.05750	-1.0866	10	0.29301	T	0.29	-8.6922	9.2691	0.37659	0.0:0.2213:0.7787:0.0	.	244	Q9NTG1	PKDRE_HUMAN	L	244	ENSP00000253255:S244L	ENSP00000253255:S244L	S	-	2	0	PKDREJ	45037153	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.336000	0.07863	2.028000	0.59812	0.492000	0.49549	TCG		0.697	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		8	39	0	0	0	1	0	8	39				
PRUNE	58497	broad.mit.edu	37	1	150997133	150997133	+	Missense_Mutation	SNP	C	C	G	rs587684563		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:150997133C>G	ENST00000271620.3	+	4	538	c.382C>G	c.(382-384)Cga>Gga	p.R128G	PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000271619.8_Intron|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368936.1_5'UTR|PRUNE_ENST00000368934.1_5'Flank|RNU6-884P_ENST00000363889.1_RNA	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	128						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTAGACCATCGACCCATCGA	0.577											OREG0013792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	1	0.000199681	0.0	0.0	5008	,	,		15572	0.0		0.0	False		,,,				2504	0.001					ENST00000271620.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(382-384)Cga>Gga		prune exopolyphosphatase							108.0	93.0	98.0					1																	150997133		2203	4300	6503	SO:0001583	missense	58497					cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding	g.chr1:150997133C>G	U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"""prune homolog (Drosophila)"""			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.382C>G	1.37:g.150997133C>G	ENSP00000271620:p.Arg128Gly		OREG0013792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1737	PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000368936.1_5'UTR|PRUNE_ENST00000271619.8_Intron|PRUNE_ENST00000368935.1_Intron	p.R128G	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		4	538	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		128					B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Missense_Mutation	SNP	ENST00000271620.3	37	c.382C>G	CCDS977.1	.	.	.	.	.	.	.	.	.	.	c	26.2	4.712639	0.89112	.	.	ENSG00000143363	ENST00000271620;ENST00000302413	T	0.15718	2.4	5.76	5.76	0.90799	Phosphoesterase, RecJ-like (1);	0.077545	0.56097	D	0.000037	T	0.30854	0.0778	M	0.67397	2.05	0.80722	D	1	D	0.63046	0.992	P	0.62298	0.9	T	0.01172	-1.1429	10	0.62326	D	0.03	.	17.4856	0.87687	0.0:1.0:0.0:0.0	.	128	Q86TP1	PRUNE_HUMAN	G	128;61	ENSP00000271620:R128G	ENSP00000271620:R128G	R	+	1	2	PRUNE	149263757	1.000000	0.71417	0.994000	0.49952	0.964000	0.63967	5.387000	0.66243	2.727000	0.93392	0.645000	0.84053	CGA		0.577	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084885.1	NM_021222		4	64	0	0	0	1	0	4	64				
SYK	6850	broad.mit.edu	37	9	93650884	93650884	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr9:93650884C>T	ENST00000375754.4	+	13	1958	c.1810C>T	c.(1810-1812)Ctc>Ttc	p.L604F	SYK_ENST00000375751.4_Missense_Mutation_p.L581F|SYK_ENST00000375747.1_Missense_Mutation_p.L581F|SYK_ENST00000375746.1_Missense_Mutation_p.L604F	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	604	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GATGTACGATCTCATGAATCT	0.473			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	ENST00000375754.4				Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	"""ETV6, ITK"""		"""MDS, peripheral T-cell lymphoma"""		0				breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						c.(1810-1812)Ctc>Ttc		spleen tyrosine kinase							126.0	101.0	110.0					9																	93650884		2203	4300	6503	SO:0001583	missense	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93650884C>T	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1810C>T	9.37:g.93650884C>T	ENSP00000364907:p.Leu604Phe					SYK_ENST00000375746.1_Missense_Mutation_p.L604F|SYK_ENST00000375747.1_Missense_Mutation_p.L581F|SYK_ENST00000375751.4_Missense_Mutation_p.L581F	p.L604F	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN			13	1958	+			604			Protein kinase.			Missense_Mutation	SNP	ENST00000375754.4	37	c.1810C>T	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345363	0.61073	.	.	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.22	4.31	0.51392	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.075231	0.53938	D	0.000055	T	0.79545	0.4464	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80756	-0.1240	10	0.87932	D	0	.	9.0357	0.36287	0.0:0.7216:0.0:0.2784	.	581;604	P43405-2;P43405	.;KSYK_HUMAN	F	604;581;581;604	ENSP00000364907:L604F;ENSP00000364904:L581F;ENSP00000364899:L581F;ENSP00000364898:L604F	ENSP00000364898:L604F	L	+	1	0	SYK	92690705	0.676000	0.27567	0.984000	0.44739	0.752000	0.42762	1.293000	0.33353	1.287000	0.44583	0.557000	0.71058	CTC		0.473	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1			6	8	0	0	0	1	0	6	8				
TMCC1	23023	broad.mit.edu	37	3	129389575	129389575	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:129389575C>T	ENST00000393238.3	-	4	1449	c.1109G>A	c.(1108-1110)aGa>aAa	p.R370K	TMCC1_ENST00000426664.2_Missense_Mutation_p.R256K|TMCC1_ENST00000329333.5_Missense_Mutation_p.R191K|TMCC1_ENST00000432054.2_Missense_Mutation_p.R46K	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	370						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GGCAATCTCTCTGGGCTTTGA	0.527																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1108-1110)aGa>aAa		transmembrane and coiled-coil domain family 1							71.0	68.0	69.0					3																	129389575		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129389575C>T	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1109G>A	3.37:g.129389575C>T	ENSP00000376930:p.Arg370Lys					TMCC1_ENST00000329333.5_Missense_Mutation_p.R191K|TMCC1_ENST00000426664.2_Missense_Mutation_p.R256K|TMCC1_ENST00000432054.2_Missense_Mutation_p.R46K	p.R370K	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			4	1449	-			370					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.1109G>A	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739947	0.69304	.	.	ENSG00000172765	ENST00000432054;ENST00000393238;ENST00000426664;ENST00000329333	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.21	5.21	0.72293	.	0.048689	0.85682	D	0.000000	T	0.47210	0.1433	L	0.48218	1.51	0.80722	D	1	B;B	0.19817	0.039;0.019	B;B	0.29785	0.107;0.026	T	0.33979	-0.9847	10	0.26408	T	0.33	-24.3516	19.1112	0.93317	0.0:1.0:0.0:0.0	.	191;370	B4DE04;O94876	.;TMCC1_HUMAN	K	46;370;256;191	ENSP00000404711:R46K;ENSP00000376930:R370K;ENSP00000389892:R256K;ENSP00000327349:R191K	ENSP00000327349:R191K	R	-	2	0	TMCC1	130872265	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.629000	0.83207	2.581000	0.87130	0.591000	0.81541	AGA		0.527	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		4	61	0	0	0	1	0	4	61				
SOCS6	9306	broad.mit.edu	37	18	67991962	67991962	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:67991962G>C	ENST00000397942.3	+	2	374	c.58G>C	c.(58-60)Gaa>Caa	p.E20Q	SOCS6_ENST00000582322.1_Missense_Mutation_p.E20Q	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	20					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TAAAAGTAAAGAAGAAACTGA	0.343																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(58-60)Gaa>Caa		suppressor of cytokine signaling 6							63.0	65.0	64.0					18																	67991962		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67991962G>C	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.58G>C	18.37:g.67991962G>C	ENSP00000381034:p.Glu20Gln					SOCS6_ENST00000582322.1_Missense_Mutation_p.E20Q	p.E20Q	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN			2	374	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	20					Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.58G>C	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407233	0.42715	.	.	ENSG00000170677	ENST00000397942	T	0.27890	1.64	5.27	4.39	0.52855	.	0.281218	0.32533	N	0.005970	T	0.31263	0.0791	L	0.52573	1.65	0.44500	D	0.997445	B	0.31383	0.321	B	0.30943	0.122	T	0.15065	-1.0450	10	0.87932	D	0	-10.2141	15.2756	0.73739	0.0:0.0:0.8587:0.1413	.	20	O14544	SOCS6_HUMAN	Q	20	ENSP00000381034:E20Q	ENSP00000381034:E20Q	E	+	1	0	SOCS6	66142942	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	7.967000	0.87967	1.192000	0.43071	0.462000	0.41574	GAA		0.343	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			7	53	0	0	0	1	0	7	53				
HNRNPR	10236	broad.mit.edu	37	1	23645146	23645146	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:23645146C>T	ENST00000374612.1	-	8	970	c.847G>A	c.(847-849)Gat>Aat	p.D283N	HNRNPR_ENST00000478691.1_Missense_Mutation_p.D185N|HNRNPR_ENST00000374616.3_Missense_Mutation_p.D286N|HNRNPR_ENST00000302271.6_Missense_Mutation_p.D283N|HNRNPR_ENST00000426846.2_Missense_Mutation_p.D123N|HNRNPR_ENST00000427764.2_Missense_Mutation_p.D245N|HNRNPR_ENST00000606561.1_Missense_Mutation_p.D144N	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	283	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTTTTGTCATCGGGTTGATGA	0.453																																						ENST00000478691.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(553-555)Gat>Aat		heterogeneous nuclear ribonucleoprotein R							79.0	78.0	78.0					1																	23645146		2203	4300	6503	SO:0001583	missense	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23645146C>T	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.847G>A	1.37:g.23645146C>T	ENSP00000363741:p.Asp283Asn					HNRNPR_ENST00000374612.1_Missense_Mutation_p.D283N|HNRNPR_ENST00000374616.3_Missense_Mutation_p.D286N|HNRNPR_ENST00000427764.2_Missense_Mutation_p.D245N|HNRNPR_ENST00000302271.6_Missense_Mutation_p.D283N|HNRNPR_ENST00000426846.2_Missense_Mutation_p.D123N|HNRNPR_ENST00000606561.1_Missense_Mutation_p.D144N	p.D185N	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	7	824	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	283			RRM 1.		Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Missense_Mutation	SNP	ENST00000374612.1	37	c.553G>A	CCDS232.1	.	.	.	.	.	.	.	.	.	.	C	31	5.058394	0.93846	.	.	ENSG00000125944	ENST00000374616;ENST00000374612;ENST00000302271;ENST00000427764;ENST00000426846	T;T;T;T;T	0.25579	1.79;1.81;1.81;2.09;2.71	5.84	5.84	0.93424	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.042029	0.85682	N	0.000000	T	0.44871	0.1314	L	0.41236	1.265	0.80722	D	1	P;D;D;D;D;D	0.89917	0.908;0.998;0.996;1.0;0.958;1.0	B;D;P;D;P;D	0.74348	0.318;0.953;0.905;0.983;0.528;0.973	T	0.26538	-1.0100	10	0.87932	D	0	.	18.7104	0.91655	0.0:1.0:0.0:0.0	.	123;245;144;263;283;286	E7ETM7;Q2L7G6;B4DT28;Q6MZS5;O43390;O43390-2	.;.;.;.;HNRPR_HUMAN;.	N	286;283;283;245;123	ENSP00000363745:D286N;ENSP00000363741:D283N;ENSP00000304405:D283N;ENSP00000392799:D245N;ENSP00000415042:D123N	ENSP00000304405:D283N	D	-	1	0	HNRNPR	23517733	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.042000	0.70996	2.779000	0.95612	0.591000	0.81541	GAT		0.453	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826		15	47	0	0	0	1	0	15	47				
FOS	2353	broad.mit.edu	37	14	75748023	75748023	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:75748023G>A	ENST00000303562.4	+	4	1248	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	FOS_ENST00000555686.1_Missense_Mutation_p.E233K|FOS_ENST00000535987.1_Missense_Mutation_p.E311K|FOS_ENST00000555347.1_Missense_Mutation_p.E199K	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	347					aging (GO:0007568)|cellular response to calcium ion (GO:0071277)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hormone stimulus (GO:0032870)|cellular response to reactive oxygen species (GO:0034614)|conditioned taste aversion (GO:0001661)|DNA methylation (GO:0006306)|Fc-epsilon receptor signaling pathway (GO:0038095)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to gravity (GO:0009629)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|sleep (GO:0030431)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	double-stranded DNA binding (GO:0003690)|R-SMAD binding (GO:0070412)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)	Nadroparin(DB08813)|Pseudoephedrine(DB00852)	CACCTACCCCGAGGCTGACTC	0.642																																						ENST00000303562.4																			0				central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(1039-1041)Gag>Aag		FBJ murine osteosarcoma viral oncogene homolog							62.0	64.0	63.0					14																	75748023		2203	4300	6503	SO:0001583	missense	2353				cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:75748023G>A	K00650	CCDS9841.1	14q24.3	2013-01-10	2009-07-23			ENSG00000170345		"""basic leucine zipper proteins"""	3796	protein-coding gene	gene with protein product		164810	"""v-fos FBJ murine osteosarcoma viral oncogene homolog"""			16123044, 16055710, 15926923	Standard	NM_005252		Approved	c-fos, AP-1	uc001xrn.3	P01100		ENST00000303562.4:c.1039G>A	14.37:g.75748023G>A	ENSP00000306245:p.Glu347Lys					FOS_ENST00000535987.1_Missense_Mutation_p.E311K|FOS_ENST00000555347.1_Missense_Mutation_p.E199K|FOS_ENST00000555686.1_Missense_Mutation_p.E233K	p.E347K	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0117)	4	1248	+		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)	347					A8K4E2|B4DQ65|P18849	Missense_Mutation	SNP	ENST00000303562.4	37	c.1039G>A	CCDS9841.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369303	0.82463	.	.	ENSG00000170345	ENST00000303562;ENST00000535987;ENST00000555686;ENST00000555347	T;T;T	0.70986	0.12;0.55;-0.53	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.85405	0.5689	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76575	0.988;0.981	D	0.86653	0.1899	10	0.66056	D	0.02	-16.9024	19.0426	0.93006	0.0:0.0:1.0:0.0	.	311;347	B4DQ65;P01100	.;FOS_HUMAN	K	347;311;233;199	ENSP00000306245:E347K;ENSP00000442268:E311K;ENSP00000452590:E233K	ENSP00000306245:E347K	E	+	1	0	FOS	74817776	1.000000	0.71417	0.975000	0.42487	0.990000	0.78478	5.833000	0.69349	2.598000	0.87819	0.563000	0.77884	GAG		0.642	FOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415044.1	NM_005252		27	112	0	0	0	1	0	27	112				
TTLL5	23093	broad.mit.edu	37	14	76187031	76187031	+	Missense_Mutation	SNP	C	C	T	rs534989089		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:76187031C>T	ENST00000298832.9	+	12	1232	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	TTLL5_ENST00000555422.1_Intron|TTLL5_ENST00000557636.1_Missense_Mutation_p.R343C	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	343	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGTTCCTCATCGCAGCAGTTG	0.428													C|||	1	0.000199681	0.0	0.0	5008	,	,		21096	0.0		0.0	False		,,,				2504	0.001					ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(1027-1029)Cgc>Tgc		tubulin tyrosine ligase-like family, member 5							213.0	197.0	202.0					14																	76187031		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76187031C>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1027C>T	14.37:g.76187031C>T	ENSP00000298832:p.Arg343Cys					TTLL5_ENST00000557636.1_Missense_Mutation_p.R343C|TTLL5_ENST00000555422.1_Intron	p.R343C	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	12	1232	+			343			TTL.		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.1027C>T	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983413	0.74474	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832	T;T	0.06142	3.34;3.34	5.73	5.73	0.89815	.	0.141075	0.64402	D	0.000011	T	0.29716	0.0742	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77004	0.981;0.989	T	0.01452	-1.1351	10	0.87932	D	0	.	14.7489	0.69511	0.1447:0.8553:0.0:0.0	.	343;343	G3V2J9;Q6EMB2	.;TTLL5_HUMAN	C	30;343;343	ENSP00000450713:R343C;ENSP00000298832:R343C	ENSP00000298832:R343C	R	+	1	0	TTLL5	75256784	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.653000	0.54446	2.881000	0.98747	0.650000	0.86243	CGC		0.428	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		34	110	0	0	0	1	0	34	110				
ITPR2	3709	broad.mit.edu	37	12	26493217	26493217	+	Silent	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:26493217G>A	ENST00000381340.3	-	56	8318	c.7902C>T	c.(7900-7902)ctC>ctT	p.L2634L	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2634					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CATTGCTAACGAGGGACATGG	0.478																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(7900-7902)ctC>ctT		inositol 1,4,5-trisphosphate receptor, type 2							64.0	62.0	63.0					12																	26493217		1968	4181	6149	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26493217G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7902C>T	12.37:g.26493217G>A						RP11-513G19.1_ENST00000535324.1_RNA	p.L2634L	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			56	8318	-	Colorectal(261;0.0847)		2634					O94773	Silent	SNP	ENST00000381340.3	37	c.7902C>T	CCDS41764.1																																																																																				0.478	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		5	41	0	0	0	1	0	5	41				
IMMT	10989	broad.mit.edu	37	2	86371871	86371871	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:86371871G>C	ENST00000410111.3	-	15	2184	c.1797C>G	c.(1795-1797)atC>atG	p.I599M	IMMT_ENST00000449247.2_Missense_Mutation_p.I588M|IMMT_ENST00000254636.5_Missense_Mutation_p.I500M|IMMT_ENST00000442664.2_Missense_Mutation_p.I598M|IMMT_ENST00000409051.2_Missense_Mutation_p.I552M	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	599					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGTTGGCTTTGATGGCCTCAA	0.507																																						ENST00000410111.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1795-1797)atC>atG		inner membrane protein, mitochondrial							94.0	91.0	92.0					2																	86371871		1921	4132	6053	SO:0001583	missense	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86371871G>C	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.1797C>G	2.37:g.86371871G>C	ENSP00000387262:p.Ile599Met					IMMT_ENST00000409051.2_Missense_Mutation_p.I552M|IMMT_ENST00000254636.5_Missense_Mutation_p.I500M|IMMT_ENST00000449247.2_Missense_Mutation_p.I588M|IMMT_ENST00000442664.2_Missense_Mutation_p.I598M	p.I599M	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN			15	2184	-			599					B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	c.1797C>G	CCDS46355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.13|12.13	1.846110|1.846110	0.32606|0.32606	.|.	.|.	ENSG00000132305|ENSG00000132305	ENST00000254636;ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000409715|ENST00000419070	T;T;T;T;T|.	0.36157|.	1.27;1.27;1.27;1.27;1.27|.	5.27|5.27	4.39|4.39	0.52855|0.52855	.|.	0.117146|.	0.64402|.	D|.	0.000014|.	T|T	0.65471|0.65471	0.2694|0.2694	M|M	0.72894|0.72894	2.215|2.215	0.49130|0.49130	D|D	0.999757|0.999757	B;P;P;P;P|.	0.45126|.	0.418;0.741;0.696;0.821;0.851|.	P;P;P;P;P|.	0.54590|.	0.649;0.756;0.642;0.642;0.756|.	T|T	0.65302|0.65302	-0.6201|-0.6201	10|5	0.72032|.	D|.	0.01|.	-6.4335|-6.4335	9.7448|9.7448	0.40440|0.40440	0.0723:0.0:0.7857:0.142|0.0723:0.0:0.7857:0.142	.|.	552;587;588;567;599|.	B9A067;B4DKR1;Q16891-2;Q16891-3;Q16891|.	.;.;.;.;IMMT_HUMAN|.	M|E	500;588;599;598;552;588;567;500|454	ENSP00000254636:I500M;ENSP00000396899:I588M;ENSP00000387262:I599M;ENSP00000407788:I598M;ENSP00000387227:I552M|.	ENSP00000254636:I500M|.	I|Q	-|-	3|1	3|0	IMMT|IMMT	86225382|86225382	0.910000|0.910000	0.30920|0.30920	0.892000|0.892000	0.35008|0.35008	0.483000|0.483000	0.33249|0.33249	1.422000|1.422000	0.34826|0.34826	1.446000|1.446000	0.47643|0.47643	0.650000|0.650000	0.86243|0.86243	ATC|CAA		0.507	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		5	77	0	0	0	1	0	5	77				
LRRK2	120892	broad.mit.edu	37	12	40704287	40704287	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:40704287G>A	ENST00000298910.7	+	31	4430	c.4372G>A	c.(4372-4374)Gat>Aat	p.D1458N		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1458	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGATGTTTCTGATGAGAAGCA	0.478																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(4372-4374)Gat>Aat		leucine-rich repeat kinase 2							140.0	133.0	136.0					12																	40704287		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40704287G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4372G>A	12.37:g.40704287G>A	ENSP00000298910:p.Asp1458Asn						p.D1458N	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			31	4430	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1458			Roc.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.4372G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.132149	0.56828	.	.	ENSG00000188906	ENST00000298910	T	0.80909	-1.43	5.63	5.63	0.86233	ROC GTPase (1);Small GTP-binding protein domain (1);	0.101677	0.64402	D	0.000003	T	0.70002	0.3174	L	0.31526	0.94	0.50632	D	0.999889	B;B	0.10296	0.003;0.003	B;B	0.10450	0.005;0.004	T	0.63528	-0.6617	10	0.17832	T	0.49	.	13.9066	0.63839	0.0726:0.0:0.9274:0.0	.	1458;1458	Q17RV3;Q5S007	.;LRRK2_HUMAN	N	1458	ENSP00000298910:D1458N	ENSP00000298910:D1458N	D	+	1	0	LRRK2	38990554	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.914000	0.63348	2.653000	0.90120	0.650000	0.86243	GAT		0.478	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		27	81	0	0	0	1	0	27	81				
TRIM16L	147166	broad.mit.edu	37	17	18635351	18635351	+	Splice_Site	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:18635351G>C	ENST00000449552.2	+	6	1851		c.e6-1		TRIM16L_ENST00000395672.2_Splice_Site|TRIM16L_ENST00000414850.2_Intron|TRIM16L_ENST00000395671.4_Splice_Site|TRIM16L_ENST00000572555.1_Splice_Site|TRIM16L_ENST00000571708.1_Splice_Site|TRIM16L_ENST00000395902.3_Splice_Site			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like							cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TGATTTTCTAGAGGAGTATGA	0.498																																						ENST00000449552.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						c.e6-1		tripartite motif containing 16-like							78.0	68.0	72.0					17																	18635351		2203	4300	6503	SO:0001630	splice_region_variant	147166					cytoplasm		g.chr17:18635351G>C	DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.368-1G>C	17.37:g.18635351G>C						TRIM16L_ENST00000572555.1_Splice_Site|TRIM16L_ENST00000395672.2_Splice_Site|TRIM16L_ENST00000571708.1_Splice_Site|TRIM16L_ENST00000395902.3_Splice_Site|TRIM16L_ENST00000395671.4_Splice_Site|TRIM16L_ENST00000414850.2_Intron				Q309B1	TR16L_HUMAN			6	1851	+								A0PK10|B2RUW6|B4DQK2|B4DWQ8	Splice_Site	SNP	ENST00000449552.2	37		CCDS32588.1	.	.	.	.	.	.	.	.	.	.	G	15.89	2.965118	0.53507	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000424146;ENST00000395671	.	.	.	3.34	3.34	0.38264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.22	0.54429	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIM16L	18576076	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.112000	0.71547	1.702000	0.51228	0.405000	0.27470	.		0.498	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130670.3	NM_001037330	Intron	11	45	0	0	0	1	0	11	45				
PLXNA2	5362	broad.mit.edu	37	1	208224401	208224401	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:208224401G>C	ENST00000367033.3	-	17	3965	c.3208C>G	c.(3208-3210)Cag>Gag	p.Q1070E		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1070	IPT/TIG 3.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTTGGCTCCTGAATGACATCC	0.493																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(3208-3210)Cag>Gag		plexin A2							112.0	105.0	107.0					1																	208224401		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208224401G>C	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.3208C>G	1.37:g.208224401G>C	ENSP00000356000:p.Gln1070Glu						p.Q1070E	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	17	3965	-			1070			IPT/TIG 3.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.3208C>G	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676309	0.88445	.	.	ENSG00000076356	ENST00000367033	T	0.75938	-0.98	5.24	5.24	0.73138	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82540	0.5059	M	0.86864	2.845	0.80722	D	1	P	0.40000	0.698	B	0.43990	0.438	D	0.85749	0.1342	10	0.66056	D	0.02	.	18.8474	0.92212	0.0:0.0:1.0:0.0	.	1070	O75051	PLXA2_HUMAN	E	1070	ENSP00000356000:Q1070E	ENSP00000356000:Q1070E	Q	-	1	0	PLXNA2	206291024	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.403000	0.73264	2.440000	0.82611	0.557000	0.71058	CAG		0.493	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		14	71	0	0	0	1	0	14	71				
SOCS6	9306	broad.mit.edu	37	18	67992019	67992019	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:67992019G>C	ENST00000397942.3	+	2	431	c.115G>C	c.(115-117)Gat>Cat	p.D39H	SOCS6_ENST00000582322.1_Missense_Mutation_p.D39H	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	39					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CTTTGGAAAAGATGATTCCTT	0.373																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(115-117)Gat>Cat		suppressor of cytokine signaling 6							89.0	86.0	87.0					18																	67992019		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992019G>C	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.115G>C	18.37:g.67992019G>C	ENSP00000381034:p.Asp39His					SOCS6_ENST00000582322.1_Missense_Mutation_p.D39H	p.D39H	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN			2	431	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	39					Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.115G>C	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.180686	0.38511	.	.	ENSG00000170677	ENST00000397942	T	0.27557	1.66	5.27	4.39	0.52855	.	0.271745	0.34133	N	0.004234	T	0.33962	0.0881	L	0.46157	1.445	0.58432	D	0.999997	P	0.45594	0.862	B	0.44278	0.445	T	0.19582	-1.0301	10	0.87932	D	0	-4.6479	15.2756	0.73739	0.0:0.0:0.8587:0.1413	.	39	O14544	SOCS6_HUMAN	H	39	ENSP00000381034:D39H	ENSP00000381034:D39H	D	+	1	0	SOCS6	66142999	1.000000	0.71417	0.982000	0.44146	0.960000	0.62799	7.982000	0.88131	1.192000	0.43071	0.462000	0.41574	GAT		0.373	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			13	76	0	0	0	1	0	13	76				
PCLO	27445	broad.mit.edu	37	7	82584766	82584766	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:82584766C>G	ENST00000333891.9	-	5	5840	c.5503G>C	c.(5503-5505)Gat>Cat	p.D1835H	PCLO_ENST00000423517.2_Missense_Mutation_p.D1835H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAGATGCATCTTCAATGGGA	0.433																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(5503-5505)Gat>Cat		piccolo presynaptic cytomatrix protein							245.0	225.0	231.0					7																	82584766		1868	4112	5980	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82584766C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5503G>C	7.37:g.82584766C>G	ENSP00000334319:p.Asp1835His					PCLO_ENST00000333891.8_Missense_Mutation_p.D1835H	p.D1835H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	5840	-			1766						Missense_Mutation	SNP	ENST00000333891.9	37	c.5503G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803024	0.31869	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.38240	1.15;1.17	5.33	5.33	0.75918	.	.	.	.	.	T	0.49847	0.1581	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.991	T	0.54139	-0.8338	9	0.87932	D	0	.	19.012	0.92877	0.0:1.0:0.0:0.0	.	1835;1835	Q9Y6V0-5;Q9Y6V0-6	.;.	H	1766;1835;1835	ENSP00000334319:D1835H;ENSP00000388393:D1835H	ENSP00000334319:D1835H	D	-	1	0	PCLO	82422702	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.792000	0.85828	2.502000	0.84385	0.655000	0.94253	GAT		0.433	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		53	125	0	0	0	1	0	53	125				
TNFRSF25	8718	broad.mit.edu	37	1	6522208	6522208	+	Silent	SNP	G	G	A	rs34221914	byFrequency	TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:6522208G>A	ENST00000356876.3	-	9	858	c.771C>T	c.(769-771)agC>agT	p.S257S	TNFRSF25_ENST00000377782.3_Silent_p.S266S|TNFRSF25_ENST00000348333.3_Silent_p.S212S|TNFRSF25_ENST00000351748.3_Silent_p.S74S|TNFRSF25_ENST00000461703.2_5'Flank|TNFRSF25_ENST00000351959.5_Silent_p.S220S	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	257					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		GGGTGTGGGCGCTGTCCAAGG	0.632													.|||	27	0.00539137	0.0189	0.0014	5008	,	,		16926	0.0		0.001	False		,,,				2504	0.0					ENST00000377782.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10						c.(796-798)agC>agT		tumor necrosis factor receptor superfamily, member 25		G	,,,,	99,4307	79.9+/-118.3	2,95,2106	118.0	123.0	121.0		771,798,660,636,222	-2.7	0.0	1	dbSNP_126	121	13,8587	9.8+/-36.6	0,13,4287	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TNFRSF25	NM_003790.2,NM_148965.1,NM_148966.1,NM_148967.1,NM_148970.1	,,,,	2,108,6393	AA,AG,GG		0.1512,2.2469,0.8611	,,,,	257/418,266/427,220/381,212/373,74/235	6522208	112,12894	2203	4300	6503	SO:0001819	synonymous_variant	8718				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:6522208G>A	U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"""Tumor necrosis factor receptor superfamily"""	11910	protein-coding gene	gene with protein product		603366	"""tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"""	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.771C>T	1.37:g.6522208G>A						TNFRSF25_ENST00000356876.3_Silent_p.S257S|TNFRSF25_ENST00000351748.3_Silent_p.S74S|TNFRSF25_ENST00000348333.3_Silent_p.S212S|TNFRSF25_ENST00000351959.5_Silent_p.S220S	p.S266S	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)	9	865	-	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	257					B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Silent	SNP	ENST00000356876.3	37	c.798C>T	CCDS71.1																																																																																				0.632	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002259.1	NM_148965		4	145	0	0	0	1	0	4	145				
KRT14	3861	broad.mit.edu	37	17	39740128	39740128	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:39740128C>T	ENST00000167586.6	-	4	897	c.811G>A	c.(811-813)Gag>Aag	p.E271K		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	271	Linker 12.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GCGTCCATCTCCACATTGACA	0.577																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(811-813)Gag>Aag		keratin 14							137.0	115.0	122.0					17																	39740128		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740128C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.811G>A	17.37:g.39740128C>T	ENSP00000167586:p.Glu271Lys						p.E271K	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			4	897	-		Breast(137;0.000307)	271			Linker 12.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.811G>A	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987929	0.93106	.	.	ENSG00000186847	ENST00000167586	D	0.92495	-3.05	5.31	5.31	0.75309	Prefoldin (1);Filament (1);	0.000000	0.53938	D	0.000043	D	0.96778	0.8948	M	0.88570	2.965	0.53005	D	0.999969	D	0.89917	1.0	D	0.78314	0.991	D	0.97063	0.9772	10	0.66056	D	0.02	.	19.3391	0.94334	0.0:1.0:0.0:0.0	.	271	P02533	K1C14_HUMAN	K	271	ENSP00000167586:E271K	ENSP00000167586:E271K	E	-	1	0	KRT14	36993654	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	4.037000	0.57311	2.637000	0.89404	0.655000	0.94253	GAG		0.577	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		22	139	0	0	0	1	0	22	139				
ARHGAP35	2909	broad.mit.edu	37	19	47425031	47425031	+	Silent	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:47425031G>A	ENST00000404338.3	+	1	3099	c.3099G>A	c.(3097-3099)ctG>ctA	p.L1033L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1033					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										AGAGTAAACTGAACAACAAAG	0.433																																						ENST00000404338.3																			0											c.(3097-3099)ctG>ctA		Rho GTPase activating protein 35							49.0	47.0	48.0					19																	47425031		1858	4104	5962	SO:0001819	synonymous_variant	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47425031G>A	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.3099G>A	19.37:g.47425031G>A							p.L1033L	NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN			1	3099	+			1033					A7E2A4|Q14452|Q9C0E1	Silent	SNP	ENST00000404338.3	37	c.3099G>A	CCDS46127.1																																																																																				0.433	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	NM_004491		10	51	0	0	0	1	0	10	51				
SLTM	79811	broad.mit.edu	37	15	59192011	59192011	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr15:59192011C>T	ENST00000380516.2	-	7	802	c.715G>A	c.(715-717)Gag>Aag	p.E239K	SLTM_ENST00000536328.1_Intron|SLTM_ENST00000557950.1_5'Flank	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	239	Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGTCATCCTCAGCTTCTTTC	0.443																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(715-717)Gag>Aag		SAFB-like, transcription modulator							168.0	143.0	152.0					15																	59192011		2192	4292	6484	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59192011C>T	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.715G>A	15.37:g.59192011C>T	ENSP00000369887:p.Glu239Lys					SLTM_ENST00000536328.1_Intron	p.E239K	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			7	802	-			239			Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.715G>A	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591200	0.66219	.	.	ENSG00000137776	ENST00000380516;ENST00000249736	D;D	0.88509	-2.39;-2.39	5.89	4.98	0.66077	.	0.000000	0.56097	D	0.000026	D	0.86847	0.6031	M	0.64997	1.995	0.80722	D	1	B;B	0.28512	0.214;0.022	B;B	0.20577	0.03;0.03	D	0.84911	0.0848	10	0.51188	T	0.08	.	14.9399	0.70986	0.0:0.9315:0.0:0.0685	.	221;239	C9IZZ3;Q9NWH9	.;SLTM_HUMAN	K	239;221	ENSP00000369887:E239K;ENSP00000249736:E221K	ENSP00000249736:E221K	E	-	1	0	SLTM	56979303	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.818000	0.86416	1.505000	0.48720	-0.218000	0.12543	GAG		0.443	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		13	56	0	0	0	1	0	13	56				
SLC8A1	6546	broad.mit.edu	37	2	40656466	40656466	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:40656466C>G	ENST00000403092.1	-	2	988	c.955G>C	c.(955-957)Gat>Cat	p.D319H	SLC8A1_ENST00000332839.4_Missense_Mutation_p.D319H|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D319H|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D319H|SLC8A1_ENST00000406785.2_Missense_Mutation_p.D319H|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D319H|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D319H|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D319H|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D319H|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D319H			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	319					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCTTCTTCATCATCTTGGTCC	0.398																																						ENST00000406785.1																			0				NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100						c.(955-957)Gat>Cat		solute carrier family 8 (sodium/calcium exchanger), member 1	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						135.0	141.0	139.0					2																	40656466		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40656466C>G		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.955G>C	2.37:g.40656466C>G	ENSP00000384763:p.Asp319His					SLC8A1_ENST00000542756.1_Missense_Mutation_p.D319H|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D319H|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D319H|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D319H|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D319H|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D319H|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D319H|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D319H|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D319H	p.D319H			P32418	NAC1_HUMAN			2	1144	-			319					A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.955G>C	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	C	12.55	1.971754	0.34754	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.28255	1.62;1.66;1.66;1.66;1.62;1.62;1.66;1.63;1.62;1.62	6.17	6.17	0.99709	Heat shock protein DnaJ, N-terminal (1);	0.044898	0.85682	D	0.000000	T	0.41351	0.1155	N	0.22421	0.69	0.54753	D	0.999982	D;D;P;D;P	0.76494	0.968;0.999;0.931;0.963;0.82	D;D;P;P;P	0.79784	0.964;0.993;0.855;0.684;0.609	T	0.05683	-1.0870	10	0.15499	T	0.54	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	319;319;319;319;319	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	H	319	ENSP00000383886:D319H;ENSP00000440727:D319H;ENSP00000384763:D319H;ENSP00000385678:D319H;ENSP00000385188:D319H;ENSP00000385535:D319H;ENSP00000332931:D319H;ENSP00000384908:D319H;ENSP00000385811:D319H;ENSP00000443515:D319H	ENSP00000332931:D319H	D	-	1	0	SLC8A1	40509970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.943000	0.70211	2.941000	0.99782	0.655000	0.94253	GAT		0.398	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		7	130	0	0	0	1	0	7	130				
PDE7A	5150	broad.mit.edu	37	8	66639126	66639126	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr8:66639126G>C	ENST00000401827.3	-	9	1347	c.904C>G	c.(904-906)Ctg>Gtg	p.L302V	PDE7A_ENST00000379419.4_Missense_Mutation_p.L276V|PDE7A_ENST00000518667.1_5'Flank|PDE7A_ENST00000396642.3_Missense_Mutation_p.L302V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	302	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	TCTAATGGCAGATGTGAGAAT	0.348																																						ENST00000401827.3																			0				large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10						c.(904-906)Ctg>Gtg		phosphodiesterase 7A	Dyphylline(DB00651)|Ketotifen(DB00920)						119.0	121.0	120.0					8																	66639126		2203	4300	6503	SO:0001583	missense	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66639126G>C	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.904C>G	8.37:g.66639126G>C	ENSP00000385632:p.Leu302Val					PDE7A_ENST00000379419.4_Missense_Mutation_p.L276V|PDE7A_ENST00000396642.3_Missense_Mutation_p.L302V	p.L302V	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		9	1347	-			302			Catalytic (By similarity).		A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	c.904C>G	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.026117	0.35701	.	.	ENSG00000205268	ENST00000401827;ENST00000379419;ENST00000396642	D;D;D	0.86164	-2.08;-2.08;-2.08	5.75	-3.63	0.04529	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.206198	0.49916	D	0.000128	D	0.84220	0.5424	M	0.68952	2.095	0.36082	D	0.842881	B;B;B	0.30763	0.009;0.294;0.055	B;B;B	0.39738	0.036;0.308;0.053	T	0.77186	-0.2680	10	0.59425	D	0.04	.	8.0104	0.30351	0.245:0.0:0.4255:0.3294	.	302;302;276	Q13946-3;Q13946;Q13946-2	.;PDE7A_HUMAN;.	V	302;276;302	ENSP00000385632:L302V;ENSP00000368730:L276V;ENSP00000379881:L302V	ENSP00000368730:L276V	L	-	1	2	PDE7A	66801680	1.000000	0.71417	0.481000	0.27354	0.933000	0.57130	1.919000	0.40015	-0.471000	0.06891	-0.500000	0.04577	CTG		0.348	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			33	80	0	0	0	1	0	33	80				
AGO4	192670	broad.mit.edu	37	1	36306771	36306771	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:36306771C>T	ENST00000373210.3	+	14	1975	c.1730C>T	c.(1729-1731)tCg>tTg	p.S577L		NM_017629.3	NP_060099.2	Q9HCK5	AGO4_HUMAN	argonaute RISC catalytic component 4	577	Piwi. {ECO:0000255|HAMAP-Rule:MF_03033}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)										AGCAGGCCCTCGGTGTTCCAG	0.473																																						ENST00000373210.3																			0											c.(1729-1731)tCg>tTg		argonaute RISC catalytic component 4							39.0	40.0	39.0					1																	36306771		2203	4300	6503	SO:0001583	missense	192670							g.chr1:36306771C>T	AB046787	CCDS397.1	1p34	2013-02-15	2013-02-15	2013-02-15	ENSG00000134698	ENSG00000134698		"""Argonaute/PIWI family"""	18424	protein-coding gene	gene with protein product	"""argonaute 4"""	607356	"""eukaryotic translation initiation factor 2C, 4"""	EIF2C4		12906857	Standard	NM_017629		Approved	hAGO4, KIAA1567, FLJ20033	uc001bzj.2	Q9HCK5	OTTHUMG00000004243	ENST00000373210.3:c.1730C>T	1.37:g.36306771C>T	ENSP00000362306:p.Ser577Leu						p.S577L	NM_017629.3	NP_060099.2					14	1975	+								A7MD27	Missense_Mutation	SNP	ENST00000373210.3	37	c.1730C>T	CCDS397.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493945	0.26774	.	.	ENSG00000134698	ENST00000373210	T	0.30448	1.53	6.01	6.01	0.97437	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.11324	0.0276	N	0.00648	-1.295	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.34925	-0.9809	10	0.06099	T	0.92	-7.9144	20.5211	0.99222	0.0:1.0:0.0:0.0	.	577	Q9HCK5	AGO4_HUMAN	L	577	ENSP00000362306:S577L	ENSP00000362306:S577L	S	+	2	0	EIF2C4	36079358	1.000000	0.71417	0.969000	0.41365	0.973000	0.67179	7.714000	0.84703	2.861000	0.98227	0.650000	0.86243	TCG		0.473	AGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012213.3	NM_017629		11	43	0	0	0	1	0	11	43				
ISM2	145501	broad.mit.edu	37	14	77948830	77948830	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:77948830C>T	ENST00000342219.4	-	4	864	c.808G>A	c.(808-810)Gag>Aag	p.E270K	ISM2_ENST00000429906.1_Missense_Mutation_p.E189K|ISM2_ENST00000412904.1_Missense_Mutation_p.E189K|ISM2_ENST00000393684.3_Missense_Mutation_p.E182K|ISM2_ENST00000493585.1_Intron	NM_199296.2	NP_954993.1	Q6H9L7	ISM2_HUMAN	isthmin 2	270						extracellular region (GO:0005576)				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						tcgtcttcctccttttcctcc	0.552																																						ENST00000393684.3																			0				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(544-546)Gag>Aag		isthmin 2							152.0	121.0	132.0					14																	77948830		2203	4300	6503	SO:0001583	missense	145501					extracellular region		g.chr14:77948830C>T	AK056709	CCDS9864.1, CCDS45143.1	14q24.3	2013-05-15	2013-05-15	2008-12-23	ENSG00000100593	ENSG00000100593			23176	protein-coding gene	gene with protein product	"""thrombospondin and AMOP containing isthmin-like 1"""	612684	"""thrombospondin, type I domain-containing 3"", ""thrombospondin, type I, domain containing 3"", ""isthmin 2 homolog (zebrafish)"""	THSD3		15194193	Standard	NM_199296		Approved	FLJ32147, TAIL1	uc001xtz.3	Q6H9L7	OTTHUMG00000158563	ENST00000342219.4:c.808G>A	14.37:g.77948830C>T	ENSP00000341490:p.Glu270Lys					ISM2_ENST00000493585.1_Intron|ISM2_ENST00000429906.1_Missense_Mutation_p.E189K|ISM2_ENST00000412904.1_Missense_Mutation_p.E189K|ISM2_ENST00000342219.4_Missense_Mutation_p.E270K	p.E182K			Q6H9L7	ISM2_HUMAN			5	935	-			270					A8K6D5|O95432|Q495U5|Q68CN3|Q86TQ7|Q86TW3|Q86TW4|Q8N501|Q8NBL0	Missense_Mutation	SNP	ENST00000342219.4	37	c.544G>A	CCDS9864.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.678141	0.68042	.	.	ENSG00000100593	ENST00000342219;ENST00000412904;ENST00000429906;ENST00000393684	T;T;T;T	0.24908	1.83;1.84;1.83;2.14	4.36	1.4	0.22301	.	0.328652	0.30920	N	0.008605	T	0.15998	0.0385	L	0.34521	1.04	0.19945	N	0.999942	P;P	0.42908	0.793;0.689	B;B	0.40940	0.344;0.186	T	0.11470	-1.0586	10	0.32370	T	0.25	-15.6025	4.897	0.13755	0.1681:0.6477:0.0:0.1842	.	189;270	Q6H9L7-5;Q6H9L7	.;ISM2_HUMAN	K	270;189;189;182	ENSP00000341490:E270K;ENSP00000416773:E189K;ENSP00000395387:E189K;ENSP00000377289:E182K	ENSP00000341490:E270K	E	-	1	0	ISM2	77018583	0.644000	0.27277	0.000000	0.03702	0.124000	0.20399	2.209000	0.42806	-0.011000	0.14247	0.313000	0.20887	GAG		0.552	ISM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351309.1	NM_182509		16	47	0	0	0	1	0	16	47				
HMGXB4	10042	broad.mit.edu	37	22	35684359	35684359	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr22:35684359G>C	ENST00000216106.5	+	9	1725	c.1597G>C	c.(1597-1599)Gag>Cag	p.E533Q	HMGXB4_ENST00000444518.2_Missense_Mutation_p.E424Q	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	533					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTGTTGGGAGAGTCCCTAAG	0.493																																						ENST00000216106.5																			0				breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1597-1599)Gag>Cag		HMG box domain containing 4							131.0	106.0	114.0					22																	35684359		2203	4300	6503	SO:0001583	missense	10042				endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding	g.chr22:35684359G>C	AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1597G>C	22.37:g.35684359G>C	ENSP00000216106:p.Glu533Gln					HMGXB4_ENST00000444518.2_Missense_Mutation_p.E424Q	p.E533Q	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN			9	1725	+			533					O75672|O75673|Q9UMT5	Missense_Mutation	SNP	ENST00000216106.5	37	c.1597G>C	CCDS33641.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943322	0.92593	.	.	ENSG00000100281	ENST00000444518;ENST00000216106	T;T	0.35236	1.32;1.38	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.75777	2.31	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.66834	-0.5823	10	0.72032	D	0.01	-24.4388	18.4568	0.90724	0.0:0.0:1.0:0.0	.	533	Q9UGU5	HMGX4_HUMAN	Q	424;533	ENSP00000398302:E424Q;ENSP00000216106:E533Q	ENSP00000216106:E533Q	E	+	1	0	HMGXB4	34014359	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.567000	0.98161	2.351000	0.79841	0.563000	0.77884	GAG		0.493	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2	NM_005487		14	44	0	0	0	1	0	14	44				
CDH11	1009	broad.mit.edu	37	16	65022083	65022083	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr16:65022083C>G	ENST00000268603.4	-	7	1591	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	CDH11_ENST00000394156.3_Missense_Mutation_p.E326Q|CDH11_ENST00000566827.1_Missense_Mutation_p.E200Q	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	326	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ATCACCCCCTCCTGTGTTTCA	0.443			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(976-978)Gag>Cag		cadherin 11, type 2, OB-cadherin (osteoblast)							364.0	304.0	325.0					16																	65022083		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65022083C>G	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.976G>C	16.37:g.65022083C>G	ENSP00000268603:p.Glu326Gln	TSP Lung(24;0.17)				CDH11_ENST00000566827.1_Missense_Mutation_p.E200Q|CDH11_ENST00000268603.4_Missense_Mutation_p.E326Q	p.E326Q			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	7	1429	-		Ovarian(137;0.0973)	326			Cadherin 3.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.976G>C	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.904254	0.92035	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.01767	4.65;4.65	5.65	5.65	0.86999	Cadherin (5);Cadherin-like (1);	0.045913	0.85682	D	0.000000	T	0.11067	0.0270	M	0.76170	2.325	0.58432	D	0.999998	D;D	0.89917	1.0;0.996	D;D	0.74348	0.983;0.976	T	0.00081	-1.2106	10	0.87932	D	0	.	18.7081	0.91646	0.0:1.0:0.0:0.0	.	326;326	P55287-2;P55287	.;CAD11_HUMAN	Q	326;326;309	ENSP00000268603:E326Q;ENSP00000377711:E326Q	ENSP00000268603:E326Q	E	-	1	0	CDH11	63579584	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.818000	0.86416	2.665000	0.90641	0.650000	0.86243	GAG		0.443	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		22	93	0	0	0	1	0	22	93				
C7orf55-LUC7L2	100996928	broad.mit.edu	37	7	139106952	139106952	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:139106952G>A	ENST00000354926.4	+	10	1399	c.1045G>A	c.(1045-1047)Gac>Aac	p.D349N	C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.D346N|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.D348N|C7orf55-LUC7L2_ENST00000482860.1_3'UTR|LUC7L2_ENST00000541515.3_Missense_Mutation_p.D415N	NM_001270643.1|NM_016019.4	NP_001257572.1|NP_057103.2			C7orf55-LUC7L2 readthrough																		AGCATCATGTGACAGAGACAG	0.408																																						ENST00000354926.4																			0											c.(1045-1047)Gac>Aac									109.0	104.0	106.0					7																	139106952		1889	4121	6010	SO:0001583	missense	100996928							g.chr7:139106952G>A		CCDS59084.1	7q34	2013-02-14			ENSG00000146963	ENSG00000146963			44671	other	readthrough							Standard	NM_001244584		Approved		uc011kqt.3		OTTHUMG00000151717	ENST00000354926.4:c.1045G>A	7.37:g.139106952G>A	ENSP00000347005:p.Asp349Asn					C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.D346N|C7orf55-LUC7L2_ENST00000482860.1_3'UTR|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.D348N|LUC7L2_ENST00000541515.3_Missense_Mutation_p.D415N	p.D349N	NM_016019.3	NP_057103.2					10	1399	+									Missense_Mutation	SNP	ENST00000354926.4	37	c.1045G>A	CCDS43656.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415460	0.42817	.	.	ENSG00000146963	ENST00000541170;ENST00000541515;ENST00000545899;ENST00000354926;ENST00000263545	T;T;T;T	0.29917	3.35;1.55;3.35;3.35	5.84	5.84	0.93424	.	0.090377	0.64402	D	0.000001	T	0.36799	0.0980	N	0.08118	0	0.40479	D	0.980421	D;D;D;P	0.67145	0.993;0.993;0.996;0.924	D;D;D;P	0.73708	0.956;0.956;0.981;0.857	T	0.41466	-0.9507	9	0.38643	T	0.18	-17.191	18.3151	0.90218	0.0:0.0:1.0:0.0	.	415;346;348;349	B7Z4Q3;B7Z500;Q9Y383-2;Q9Y383	.;.;.;LC7L2_HUMAN	N	346;415;349;349;348	ENSP00000441604:D346N;ENSP00000440222:D415N;ENSP00000347005:D349N;ENSP00000263545:D348N	ENSP00000263545:D348N	D	+	1	0	LUC7L2	138757492	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.663000	0.61532	2.763000	0.94921	0.557000	0.71058	GAC		0.408	C7orf55-LUC7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323618.2			29	62	0	0	0	1	0	29	62				
GLRX5	51218	broad.mit.edu	37	14	95999834	95999834	+	5'Flank	SNP	C	C	T	rs371125296		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:95999834C>T	ENST00000331334.4	+	0	0				SNHG10_ENST00000553559.1_RNA|SNHG10_ENST00000500370.2_RNA|SNHG10_ENST00000554169.1_RNA|SNHG10_ENST00000555866.1_RNA|SCARNA13_ENST00000516672.1_RNA	NM_016417.2	NP_057501.2	Q86SX6	GLRX5_HUMAN	glutaredoxin 5						cell redox homeostasis (GO:0045454)|hemopoiesis (GO:0030097)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|protein disulfide oxidoreductase activity (GO:0015035)			large_intestine(1)|lung(1)	2		all_cancers(154;0.135)		Epithelial(152;0.133)|COAD - Colon adenocarcinoma(157;0.21)|all cancers(159;0.212)		CAGAAACTATCAGAGGAAAAT	0.483																																						ENST00000500370.2																			0															C		1,1751		0,1,875	180.0	173.0	175.0			4.7	0.7	14		175	0,3982		0,0,1991	no	near-gene-5				0,1,2866	TT,TC,CC		0.0,0.0571,0.0174			95999834	1,5733	876	1991	2867	SO:0001631	upstream_gene_variant	283596							g.chr14:95999834C>T	AF113691	CCDS9936.1	14q32.2	2007-08-16	2007-08-16	2005-11-11		ENSG00000182512			20134	protein-coding gene	gene with protein product		609588	"""chromosome 14 open reading frame 87"", ""glutaredoxin 5 homolog (S. cerevisiae)"""	C14orf87			Standard	NM_016417		Approved	PR01238, GRX5	uc001yem.1	Q86SX6			14.37:g.95999834C>T	Exception_encountered					SCARNA13_ENST00000516672.1_RNA|SNHG10_ENST00000553559.1_RNA|SNHG10_ENST00000555866.1_RNA|SNHG10_ENST00000554169.1_RNA								0	766	-								Q0X088|Q3YML0|Q86WY3|Q8IZ54	RNA	SNP	ENST00000331334.4	37		CCDS9936.1																																																																																				0.483	GLRX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414550.1			9	146	0	0	0	1	0	9	146				
PPT2	9374	broad.mit.edu	37	6	32122955	32122955	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:32122955C>T	ENST00000324816.6	+	3	900	c.332C>T	c.(331-333)tCg>tTg	p.S111L	PPT2_ENST00000375143.2_Missense_Mutation_p.S111L|PRRT1_ENST00000375150.2_5'Flank|PPT2_ENST00000375137.2_Missense_Mutation_p.S111L|PPT2-EGFL8_ENST00000422437.1_Missense_Mutation_p.S111L|PPT2_ENST00000395523.1_Missense_Mutation_p.S111L|PPT2_ENST00000445576.2_Missense_Mutation_p.S111L|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000361568.2_Missense_Mutation_p.S117L			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	111					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						ATCTGCTACTCGCAGGGTAGG	0.572																																						ENST00000422437.1																			0											c.(331-333)tCg>tTg									76.0	62.0	67.0					6																	32122955		1511	2707	4218	SO:0001583	missense	100532746							g.chr6:32122955C>T	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.332C>T	6.37:g.32122955C>T	ENSP00000320528:p.Ser111Leu					PPT2_ENST00000324816.6_Missense_Mutation_p.S111L|PPT2_ENST00000361568.2_Missense_Mutation_p.S117L|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000375143.2_Missense_Mutation_p.S111L|PPT2_ENST00000437001.2_Intron|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000445576.2_Missense_Mutation_p.S111L|PPT2_ENST00000395523.1_Missense_Mutation_p.S111L|PPT2_ENST00000375137.2_Missense_Mutation_p.S111L	p.S111L							3	523	+								A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Missense_Mutation	SNP	ENST00000324816.6	37	c.332C>T	CCDS4742.1	.	.	.	.	.	.	.	.	.	.	C	35	5.575911	0.96553	.	.	ENSG00000221988	ENST00000414204;ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000375137;ENST00000375143;ENST00000436118	D;D;D;D;D;D;D	0.99259	-2.61;-5.64;-5.64;-5.64;-5.64;-5.64;-5.64	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.99548	0.9838	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.98220	1.0477	10	0.87932	D	0	-5.5414	15.7212	0.77710	0.0:1.0:0.0:0.0	.	111;111;117	Q9UMR5-2;Q9UMR5;B0S872	.;PPT2_HUMAN;.	L	111;117;111;111;111;111;111;111	ENSP00000398847:S111L;ENSP00000354608:S117L;ENSP00000378894:S111L;ENSP00000412381:S111L;ENSP00000320528:S111L;ENSP00000364279:S111L;ENSP00000364285:S111L	ENSP00000320528:S111L	S	+	2	0	PPT2	32230933	1.000000	0.71417	0.961000	0.40146	0.988000	0.76386	6.820000	0.75267	2.567000	0.86603	0.555000	0.69702	TCG		0.572	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717		12	36	0	0	0	1	0	12	36				
GRIA1	2890	broad.mit.edu	37	5	153077603	153077603	+	Splice_Site	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr5:153077603G>A	ENST00000285900.5	+	9	1477		c.e9-1		GRIA1_ENST00000448073.4_Splice_Site|GRIA1_ENST00000518783.1_Splice_Site|GRIA1_ENST00000518142.1_Splice_Site|GRIA1_ENST00000340592.5_Splice_Site|GRIA1_ENST00000521843.2_Splice_Site	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1						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)	CTCATTAACAGATTGGTTACT	0.507																																						ENST00000285900.5																			0				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						c.e9-1		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						80.0	76.0	77.0					5																	153077603		2203	4300	6503	SO:0001630	splice_region_variant	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.chr5:153077603G>A		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.1135-1G>A	5.37:g.153077603G>A						GRIA1_ENST00000518783.1_Splice_Site|GRIA1_ENST00000340592.5_Splice_Site|GRIA1_ENST00000521843.2_Splice_Site|GRIA1_ENST00000518142.1_Splice_Site|GRIA1_ENST00000448073.4_Splice_Site		NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		9	1477	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)						B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Splice_Site	SNP	ENST00000285900.5	37		CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857335	0.51376	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5007	0.90879	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GRIA1	153057796	1.000000	0.71417	1.000000	0.80357	0.209000	0.24338	9.247000	0.95444	2.595000	0.87683	0.655000	0.94253	.		0.507	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		Intron	6	31	0	0	0	1	0	6	31				
ISY1	57461	broad.mit.edu	37	3	128853674	128853674	+	Splice_Site	SNP	C	C	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:128853674C>A	ENST00000393295.3	-	8	859		c.e8+1		ISY1_ENST00000273541.8_Splice_Site|ISY1-RAB43_ENST00000418265.1_Splice_Site|ISY1_ENST00000471497.1_Intron|ISY1_ENST00000393292.3_Missense_Mutation_p.R181L	NM_001199469.1|NM_020701.3	NP_001186398.1|NP_065752.1	Q9ULR0	ISY1_HUMAN	ISY1 splicing factor homolog (S. cerevisiae)						mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						CAGAGACCTACGTTTCTTTTC	0.388																																						ENST00000393292.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						c.(541-543)cGt>cTt		ISY1 splicing factor homolog (S. cerevisiae)							123.0	115.0	118.0					3																	128853674		1870	4116	5986	SO:0001630	splice_region_variant	57461							g.chr3:128853674C>A		CCDS43149.1, CCDS56277.1	3q21.3	2008-11-25			ENSG00000240682	ENSG00000240682			29201	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 33"""	612764				16103217	Standard	NM_020701		Approved	KIAA1160, fSAP33		Q9ULR0	OTTHUMG00000137365	ENST00000393295.3:c.541+1G>T	3.37:g.128853674C>A						ISY1_ENST00000393295.3_Splice_Site|ISY1_ENST00000471497.1_Intron|ISY1_ENST00000273541.8_Splice_Site|ISY1-RAB43_ENST00000418265.1_Splice_Site	p.R181L							8	603	-								Q96IL2|Q9BT05	Missense_Mutation	SNP	ENST00000393295.3	37	c.542G>T	CCDS43149.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.06|19.06	3.754764|3.754764	0.69648|0.69648	.|.	.|.	ENSG00000240682|ENSG00000240682	ENST00000418265;ENST00000393295;ENST00000273541;ENST00000496163|ENST00000393292	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|.	.|.	.|.	.|.	.|T	.|0.53514	.|0.1801	.|.	.|.	.|.	0.49798|0.49798	D|D	0.999823|0.999823	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.43572	.|-0.9383	.|5	.|0.13470	.|T	.|0.59	.|.	14.1518|14.1518	0.65389|0.65389	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|L	-1|181	.|.	.|ENSP00000376970:R181L	.|R	-|-	.|2	.|0	ISY1|ISY1	130336364|130336364	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.822000|0.822000	0.46500|0.46500	6.484000|6.484000	0.73621|0.73621	2.466000|2.466000	0.83321|0.83321	0.467000|0.467000	0.42956|0.42956	.|CGT		0.388	ISY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267856.1	NM_020701	Intron	32	67	1	0	1.62565e-12	1	1.72349e-12	32	67				
ADCY4	196883	broad.mit.edu	37	14	24789035	24789035	+	Silent	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:24789035G>A	ENST00000310677.4	-	22	2759	c.2646C>T	c.(2644-2646)ttC>ttT	p.F882F	ADCY4_ENST00000554068.2_Silent_p.F882F|ADCY4_ENST00000418030.2_Silent_p.F882F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	882					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		AGAACTCCTTGAAGTCTGGGA	0.478																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2644-2646)ttC>ttT		adenylate cyclase 4							103.0	92.0	96.0					14																	24789035		2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24789035G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2646C>T	14.37:g.24789035G>A						ADCY4_ENST00000418030.2_Silent_p.F882F|ADCY4_ENST00000554068.2_Silent_p.F882F	p.F882F	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	22	2759	-			882					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.2646C>T	CCDS9627.1																																																																																				0.478	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			7	50	0	0	0	1	0	7	50				
DNMBP	23268	broad.mit.edu	37	10	101648654	101648654	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr10:101648654C>T	ENST00000324109.4	-	12	3304	c.3213G>A	c.(3211-3213)gaG>gaA	p.E1071E	DNMBP_ENST00000543621.1_Silent_p.E317E|DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000342239.3_Silent_p.E1095E|DNMBP_ENST00000540316.1_Silent_p.E7E	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1071	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGTGTCCTCTCTCCATGCACA	0.498																																						ENST00000342239.3																			0				central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61						c.(3283-3285)gaG>gaA		dynamin binding protein							109.0	92.0	98.0					10																	101648654		2203	4300	6503	SO:0001819	synonymous_variant	23268				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr10:101648654C>T	AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3213G>A	10.37:g.101648654C>T						DNMBP_ENST00000543621.1_Silent_p.E317E|DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000540316.1_Silent_p.E7E|DNMBP_ENST00000324109.4_Silent_p.E1071E	p.E1095E			Q6XZF7	DNMBP_HUMAN		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)	12	3376	-		Colorectal(252;0.234)	1071			BAR.		Q8IVY3|Q9Y2L3	Silent	SNP	ENST00000324109.4	37	c.3285G>A	CCDS7485.1																																																																																				0.498	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049832.2	NM_015221		11	35	0	0	0	1	0	11	35				
KRBA2	124751	broad.mit.edu	37	17	8272706	8272706	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:8272706C>G	ENST00000331336.2	-	2	1230	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	RP11-849F2.5_ENST00000580537.1_RNA|KRBA2_ENST00000396267.1_Missense_Mutation_p.E327Q|RP11-849F2.5_ENST00000583963.1_RNA|RP11-849F2.7_ENST00000582471.1_3'UTR	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	409	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)|regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	nucleic acid binding (GO:0003676)			endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						AACATTGCCTCAAATGGACTT	0.468																																						ENST00000396267.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						c.(979-981)Gag>Cag		KRAB-A domain containing 2							97.0	90.0	93.0					17																	8272706		2203	4300	6503	SO:0001583	missense	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8272706C>G	BC024723	CCDS11141.1	17p13.1	2013-01-08	2006-08-15		ENSG00000184619	ENSG00000184619		"""-"""	26989	protein-coding gene	gene with protein product			"""KRAB A domain containing 2"""			12477932	Standard	NM_213597		Approved		uc002glf.1	Q6ZNG9	OTTHUMG00000132864	ENST00000331336.2:c.1225G>C	17.37:g.8272706C>G	ENSP00000328017:p.Glu409Gln					KRBA2_ENST00000331336.2_Missense_Mutation_p.E409Q|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA	p.E327Q			Q6ZNG9	KRBA2_HUMAN			2	1810	-			409			Integrase catalytic.		Q8IYY0	Missense_Mutation	SNP	ENST00000331336.2	37	c.979G>C	CCDS11141.1	.	.	.	.	.	.	.	.	.	.	c	12.14	1.848204	0.32699	.	.	ENSG00000184619	ENST00000396267;ENST00000331336	T;T	0.53857	0.6;0.6	2.69	0.688	0.18027	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.54303	0.1850	L	0.57536	1.79	0.09310	N	0.999996	P	0.51449	0.945	P	0.52343	0.696	T	0.45600	-0.9250	9	0.87932	D	0	.	4.6661	0.12666	0.0:0.6916:0.0:0.3084	.	409	Q6ZNG9	KRBA2_HUMAN	Q	327;409	ENSP00000379565:E327Q;ENSP00000328017:E409Q	ENSP00000328017:E409Q	E	-	1	0	KRBA2	8213431	0.326000	0.24669	0.277000	0.24703	0.768000	0.43524	0.944000	0.29043	0.224000	0.20940	0.650000	0.86243	GAG		0.468	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1	NM_213597		16	67	0	0	0	1	0	16	67				
RAI2	10742	broad.mit.edu	37	X	17818621	17818621	+	Missense_Mutation	SNP	T	T	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:17818621T>G	ENST00000545871.1	-	3	1970	c.1510A>C	c.(1510-1512)Aag>Cag	p.K504Q	RAI2_ENST00000451717.1_Missense_Mutation_p.K504Q|RAI2_ENST00000415486.3_Missense_Mutation_p.K454Q|RAI2_ENST00000331511.1_Missense_Mutation_p.K504Q|RAI2_ENST00000360011.1_Missense_Mutation_p.K504Q	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	504					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TTCTTTAACTTTATGCTCCGG	0.438																																						ENST00000545871.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(1510-1512)Aag>Cag		retinoic acid induced 2							273.0	289.0	284.0					X																	17818621		2203	4300	6503	SO:0001583	missense	10742				embryo development			g.chrX:17818621T>G	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1510A>C	X.37:g.17818621T>G	ENSP00000444210:p.Lys504Gln					RAI2_ENST00000451717.1_Missense_Mutation_p.K504Q|RAI2_ENST00000415486.3_Missense_Mutation_p.K454Q|RAI2_ENST00000360011.1_Missense_Mutation_p.K504Q|RAI2_ENST00000331511.1_Missense_Mutation_p.K504Q	p.K504Q	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN			3	1970	-	Hepatocellular(33;0.183)		504					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	c.1510A>C	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376979	0.61735	.	.	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.50001	0.79;0.79;0.79;0.79;0.76	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.59335	0.2186	L	0.36672	1.1	0.52099	D	0.99994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63157	-0.6700	10	0.87932	D	0	-26.8594	14.3039	0.66373	0.0:0.0:0.0:1.0	.	454;504	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	Q	504;504;504;504;454	ENSP00000333456:K504Q;ENSP00000353106:K504Q;ENSP00000444210:K504Q;ENSP00000401323:K504Q;ENSP00000392578:K454Q	ENSP00000333456:K504Q	K	-	1	0	RAI2	17728542	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.301000	0.78850	1.954000	0.56735	0.486000	0.48141	AAG		0.438	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		132	359	0	0	0	1	0	132	359				
TRIM55	84675	broad.mit.edu	37	8	67062613	67062613	+	Missense_Mutation	SNP	A	A	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr8:67062613A>T	ENST00000315962.4	+	7	1270	c.897A>T	c.(895-897)aaA>aaT	p.K299N	TRIM55_ENST00000276573.7_Missense_Mutation_p.K299N|TRIM55_ENST00000353317.5_Missense_Mutation_p.K299N|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	299	COS. {ECO:0000255|PROSITE- ProRule:PRU00586}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			AGATGGAGAAAATAGAACATG	0.378																																						ENST00000315962.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39						c.(895-897)aaA>aaT		tripartite motif containing 55							110.0	107.0	108.0					8																	67062613		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67062613A>T	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.897A>T	8.37:g.67062613A>T	ENSP00000323913:p.Lys299Asn					TRIM55_ENST00000276573.7_Missense_Mutation_p.K299N|TRIM55_ENST00000353317.5_Missense_Mutation_p.K299N|TRIM55_ENST00000350034.4_Intron	p.K299N	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		7	1270	+		Lung NSC(129;0.138)|all_lung(136;0.221)	299			COS.		B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.897A>T	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.404980	0.42613	.	.	ENSG00000147573	ENST00000315962;ENST00000353317;ENST00000276573	T;T;T	0.32023	1.47;1.54;1.47	5.84	4.69	0.59074	COS domain (1);	0.083453	0.85682	D	0.000000	T	0.34454	0.0898	M	0.69823	2.125	0.80722	D	1	B;B;B	0.11235	0.001;0.001;0.004	B;B;B	0.15484	0.005;0.009;0.013	T	0.14448	-1.0472	10	0.66056	D	0.02	.	11.6828	0.51468	0.9311:0.0:0.0689:0.0	.	299;299;299	Q9BYV6-2;Q9BYV6;Q9BYV6-3	.;TRI55_HUMAN;.	N	299	ENSP00000323913:K299N;ENSP00000297348:K299N;ENSP00000276573:K299N	ENSP00000276573:K299N	K	+	3	2	TRIM55	67225167	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.711000	0.54868	1.043000	0.40175	0.528000	0.53228	AAA		0.378	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		14	52	0	0	0	1	0	14	52				
FAM193A	8603	broad.mit.edu	37	4	2696680	2696680	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr4:2696680G>A	ENST00000324666.5	+	15	2578	c.2227G>A	c.(2227-2229)Gac>Aac	p.D743N	FAM193A_ENST00000505311.1_Missense_Mutation_p.D743N|FAM193A_ENST00000502458.1_Missense_Mutation_p.D765N|FAM193A_ENST00000382839.3_Missense_Mutation_p.D743N|FAM193A_ENST00000545951.1_Missense_Mutation_p.D743N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	743										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAGTGACCCTGACTGCGAAGG	0.582																																						ENST00000324666.5																			0				NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						c.(2227-2229)Gac>Aac		family with sequence similarity 193, member A							52.0	40.0	44.0					4																	2696680		2202	4300	6502	SO:0001583	missense	8603							g.chr4:2696680G>A	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2227G>A	4.37:g.2696680G>A	ENSP00000324587:p.Asp743Asn					FAM193A_ENST00000505311.1_Missense_Mutation_p.D743N|FAM193A_ENST00000545951.1_Missense_Mutation_p.D743N|FAM193A_ENST00000382839.3_Missense_Mutation_p.D743N|FAM193A_ENST00000502458.1_Missense_Mutation_p.D765N	p.D743N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN			15	2578	+			743					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.2227G>A	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656733	0.88154	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.62788	0.0;0.0;0.0;0.0;0.0	5.24	5.24	0.73138	.	0.047962	0.85682	D	0.000000	T	0.72455	0.3462	L	0.47716	1.5	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998	D;D;D;D;D	0.66351	0.943;0.943;0.943;0.943;0.943	T	0.69684	-0.5079	10	0.33141	T	0.24	-25.5168	17.8405	0.88714	0.0:0.0:1.0:0.0	.	743;765;743;765;743	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	N	743;743;743;765;597	ENSP00000372290:D743N;ENSP00000324587:D743N;ENSP00000443617:D743N;ENSP00000427505:D765N;ENSP00000427260:D597N	ENSP00000324587:D743N	D	+	1	0	FAM193A	2666478	1.000000	0.71417	0.992000	0.48379	0.732000	0.41865	7.817000	0.86213	2.435000	0.82474	0.655000	0.94253	GAC		0.582	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		3	18	0	0	0	1	0	3	18				
SYMPK	8189	broad.mit.edu	37	19	46331129	46331129	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:46331129G>A	ENST00000245934.7	-	15	2277	c.2033C>T	c.(2032-2034)gCc>gTc	p.A678V	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	678					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.A678V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CACCTCCAGGGCACTCTCTGT	0.652																																						ENST00000245934.7																			1	Substitution - Missense(1)	p.A678V(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(2032-2034)gCc>gTc		symplekin							107.0	105.0	106.0					19																	46331129		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46331129G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2033C>T	19.37:g.46331129G>A	ENSP00000245934:p.Ala678Val						p.A678V	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	15	2277	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	678					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.2033C>T	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	20.9	4.069198	0.76301	.	.	ENSG00000125755	ENST00000245934	T	0.71934	-0.61	5.46	5.46	0.80206	Armadillo-type fold (1);	0.112900	0.64402	D	0.000014	T	0.66257	0.2771	L	0.45581	1.43	0.80722	D	1	B;B	0.22541	0.071;0.001	B;B	0.19391	0.025;0.003	T	0.62927	-0.6750	10	0.46703	T	0.11	.	16.8671	0.86032	0.0:0.0:1.0:0.0	.	693;678	Q4LE61;Q92797	.;SYMPK_HUMAN	V	678	ENSP00000245934:A678V	ENSP00000245934:A678V	A	-	2	0	SYMPK	51022969	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.444000	0.97578	2.591000	0.87537	0.650000	0.86243	GCC		0.652	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		4	190	0	0	0	1	0	4	190				
PHACTR3	116154	broad.mit.edu	37	20	58318283	58318283	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr20:58318283G>C	ENST00000371015.1	+	2	707	c.240G>C	c.(238-240)tgG>tgC	p.W80C	PHACTR3_ENST00000395636.2_Missense_Mutation_p.W39C|PHACTR3_ENST00000355648.4_Missense_Mutation_p.W39C|PHACTR3_ENST00000361300.4_Missense_Mutation_p.W39C|PHACTR3_ENST00000395639.4_Missense_Mutation_p.W39C|PHACTR3_ENST00000541461.1_Missense_Mutation_p.W39C|PHACTR3_ENST00000359926.3_Missense_Mutation_p.W77C	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	80						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCTGGAAATGGAGGAAAAAGA	0.562																																						ENST00000371015.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59						c.(238-240)tgG>tgC		phosphatase and actin regulator 3							70.0	67.0	68.0					20																	58318283		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58318283G>C	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.240G>C	20.37:g.58318283G>C	ENSP00000360054:p.Trp80Cys					PHACTR3_ENST00000361300.4_Missense_Mutation_p.W39C|PHACTR3_ENST00000395636.2_Missense_Mutation_p.W39C|PHACTR3_ENST00000395639.4_Missense_Mutation_p.W39C|PHACTR3_ENST00000359926.3_Missense_Mutation_p.W77C|PHACTR3_ENST00000355648.4_Missense_Mutation_p.W39C|PHACTR3_ENST00000541461.1_Missense_Mutation_p.W39C	p.W80C	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		2	707	+	all_lung(29;0.00344)		80					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.240G>C	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.029481	0.75504	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.0;-0.97;-0.97;-0.97;-1.0	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	D	0.89298	0.6675	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	D	0.90993	0.4836	10	0.72032	D	0.01	-11.8855	15.6464	0.77055	0.0:0.0:1.0:0.0	.	39;80;77	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	C	77;80;39;39;39;39;39	ENSP00000353002:W77C;ENSP00000360054:W80C;ENSP00000379001:W39C;ENSP00000442483:W39C;ENSP00000347866:W39C;ENSP00000378998:W39C;ENSP00000354555:W39C	ENSP00000347866:W39C	W	+	3	0	PHACTR3	57751678	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.593000	0.98250	1.910000	0.55303	0.462000	0.41574	TGG		0.562	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		8	59	0	0	0	1	0	8	59				
C17orf70	80233	broad.mit.edu	37	17	79516278	79516278	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:79516278G>A	ENST00000327787.8	-	4	1403	c.1357C>T	c.(1357-1359)Cag>Tag	p.Q453*	C17orf70_ENST00000537152.1_Nonsense_Mutation_p.Q302*|C17orf70_ENST00000425898.2_5'Flank			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	453					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TTTATTTTCTGACCTGCACTC	0.607																																						ENST00000537152.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19						c.(904-906)Cag>Tag		chromosome 17 open reading frame 70							55.0	45.0	48.0					17																	79516278		2203	4300	6503	SO:0001587	stop_gained	80233				DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding	g.chr17:79516278G>A	BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1357C>T	17.37:g.79516278G>A	ENSP00000333283:p.Gln453*					C17orf70_ENST00000327787.8_Nonsense_Mutation_p.Q453*	p.Q302*	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)		4	1429	-	all_neural(118;0.0878)|Melanoma(429;0.242)		453					A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Nonsense_Mutation	SNP	ENST00000327787.8	37	c.904C>T	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	G	37	6.496753	0.97616	.	.	ENSG00000185504	ENST00000327787;ENST00000537152	.	.	.	5.17	1.95	0.26073	.	1.310030	0.05323	N	0.526994	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	10.0319	0.42105	0.0:0.1344:0.5868:0.2788	.	.	.	.	X	453;302	.	ENSP00000333283:Q453X	Q	-	1	0	C17orf70	77126720	0.962000	0.33011	0.013000	0.15412	0.023000	0.10783	3.542000	0.53625	0.170000	0.19704	-0.181000	0.13052	CAG		0.607	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161		4	51	0	0	0	1	0	4	51				
LRRC47	57470	broad.mit.edu	37	1	3712429	3712429	+	Silent	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:3712429G>C	ENST00000378251.1	-	1	639	c.612C>G	c.(610-612)ctC>ctG	p.L204L		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	204							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CGCTGACCTTGAGCGAGGCCA	0.701																																						ENST00000378251.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(610-612)ctC>ctG		leucine rich repeat containing 47							8.0	10.0	10.0					1																	3712429		2138	4191	6329	SO:0001819	synonymous_variant	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3712429G>C	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.612C>G	1.37:g.3712429G>C							p.L204L	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	1	639	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	204					Q9ULN5	Silent	SNP	ENST00000378251.1	37	c.612C>G	CCDS51.1																																																																																				0.701	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		4	3	0	0	0	1	0	4	3				
DHX16	8449	broad.mit.edu	37	6	30632611	30632611	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:30632611C>T	ENST00000376442.3	-	7	1479	c.1284G>A	c.(1282-1284)aaG>aaA	p.K428K	DHX16_ENST00000376437.5_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	428	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						TCTGGGTGGTCTTCCCTGAGC	0.557																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(1282-1284)aaG>aaA		DEAH (Asp-Glu-Ala-His) box polypeptide 16							113.0	91.0	99.0					6																	30632611		1511	2709	4220	SO:0001819	synonymous_variant	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30632611C>T	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1284G>A	6.37:g.30632611C>T							p.K428K	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			7	1479	-			428			Helicase ATP-binding.		O60322|Q5JP45|Q969X7|Q96QC1	Silent	SNP	ENST00000376442.3	37	c.1284G>A	CCDS4685.1																																																																																				0.557	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		7	74	0	0	0	1	0	7	74				
LRRC47	57470	broad.mit.edu	37	1	3712633	3712633	+	Silent	SNP	G	G	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:3712633G>T	ENST00000378251.1	-	1	435	c.408C>A	c.(406-408)ctC>ctA	p.L136L		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	136							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GGTTGCCGCTGAGGTTGAGGC	0.736																																						ENST00000378251.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(406-408)ctC>ctA		leucine rich repeat containing 47							4.0	5.0	5.0					1																	3712633		1987	3808	5795	SO:0001819	synonymous_variant	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3712633G>T	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.408C>A	1.37:g.3712633G>T							p.L136L	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	1	435	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	136					Q9ULN5	Silent	SNP	ENST00000378251.1	37	c.408C>A	CCDS51.1																																																																																				0.736	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		4	1	1	0	0.184627	1	0.184627	4	1				
LRRC8D	55144	broad.mit.edu	37	1	90399323	90399323	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:90399323G>C	ENST00000337338.5	+	3	1103	c.696G>C	c.(694-696)caG>caC	p.Q232H	LRRC8D_ENST00000394593.3_Missense_Mutation_p.Q232H	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	232					ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CAGGTGCCCAGACTCTACCAA	0.453																																						ENST00000337338.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29						c.(694-696)caG>caC		leucine rich repeat containing 8 family, member D							60.0	59.0	59.0					1																	90399323		2203	4300	6503	SO:0001583	missense	55144					integral to membrane	protein binding	g.chr1:90399323G>C	AK001332	CCDS726.1	1p22.2	2008-02-05	2005-06-29	2005-06-29	ENSG00000171492	ENSG00000171492			16992	protein-coding gene	gene with protein product		612890	"""leucine rich repeat containing 5"""	LRRC5			Standard	NM_018103		Approved	FLJ10470	uc001dnn.3	Q7L1W4	OTTHUMG00000010583	ENST00000337338.5:c.696G>C	1.37:g.90399323G>C	ENSP00000338887:p.Gln232His					LRRC8D_ENST00000394593.3_Missense_Mutation_p.Q232H	p.Q232H	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN		all cancers(265;0.0109)|Epithelial(280;0.0427)	3	1103	+		all_lung(203;0.0894)|Lung NSC(277;0.227)	232					D3DT29|Q6UWB2|Q9NVW3	Missense_Mutation	SNP	ENST00000337338.5	37	c.696G>C	CCDS726.1	.	.	.	.	.	.	.	.	.	.	G	6.013	0.370821	0.11409	.	.	ENSG00000171492	ENST00000337338;ENST00000394593;ENST00000441269	T;T;T	0.45276	1.48;1.48;0.9	5.77	3.83	0.44106	.	0.203304	0.43747	D	0.000521	T	0.08626	0.0214	N	0.14661	0.345	0.33679	D	0.61184	B	0.02656	0.0	B	0.06405	0.002	T	0.19063	-1.0317	9	.	.	.	.	6.5284	0.22314	0.1553:0.0:0.7023:0.1424	.	232	Q7L1W4	LRC8D_HUMAN	H	232	ENSP00000338887:Q232H;ENSP00000378093:Q232H;ENSP00000405784:Q232H	.	Q	+	3	2	LRRC8D	90171911	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.593000	0.36686	0.713000	0.32060	-0.345000	0.07892	CAG		0.453	LRRC8D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029203.2	NM_018103		9	47	0	0	0	1	0	9	47				
KIF4B	285643	broad.mit.edu	37	5	154393830	154393830	+	Silent	SNP	A	A	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr5:154393830A>G	ENST00000435029.4	+	1	571	c.411A>G	c.(409-411)aaA>aaG	p.K137K		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	137	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTACTCTGAAAGTGTCTTACT	0.373																																						ENST00000435029.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(409-411)aaA>aaG		kinesin family member 4B							97.0	102.0	101.0					5																	154393830		2202	4300	6502	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393830A>G	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.411A>G	5.37:g.154393830A>G							p.K137K	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	571	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	137			Kinesin-motor.			Silent	SNP	ENST00000435029.4	37	c.411A>G	CCDS47324.1																																																																																				0.373	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			25	68	0	0	0	1	0	25	68				
KCNH7	90134	broad.mit.edu	37	2	163374320	163374320	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:163374320C>T	ENST00000332142.5	-	4	911	c.812G>A	c.(811-813)cGg>cAg	p.R271Q	KCNH7_ENST00000328032.4_Missense_Mutation_p.R271Q|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	271					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AGATGCTCTCCGTATACTACA	0.468																																					GBM(196;1492 2208 17507 24132 45496)	ENST00000332142.5																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108						c.(811-813)cGg>cAg		potassium voltage-gated channel, subfamily H (eag-related), member 7	Ibutilide(DB00308)						117.0	105.0	109.0					2																	163374320		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163374320C>T	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.812G>A	2.37:g.163374320C>T	ENSP00000331727:p.Arg271Gln					KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.R271Q	p.R271Q	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN			4	911	-			271					Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.812G>A	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	35	5.556750	0.96514	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.99113	-5.44;-5.44	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.99013	0.9663	L	0.49126	1.545	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.941	D	0.99844	1.1064	10	0.44086	T	0.13	.	20.2556	0.98417	0.0:1.0:0.0:0.0	.	271;271	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	Q	271	ENSP00000331727:R271Q;ENSP00000333781:R271Q	ENSP00000333781:R271Q	R	-	2	0	KCNH7	163082566	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.273000	0.78527	2.791000	0.96007	0.655000	0.94253	CGG		0.468	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		21	31	0	0	0	1	0	21	31				
NOS2	4843	broad.mit.edu	37	17	26114709	26114709	+	Silent	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:26114709G>A	ENST00000313735.6	-	5	695	c.462C>T	c.(460-462)ttC>ttT	p.F154F		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	154				F -> L (in Ref. 4; AAA56666). {ECO:0000305}.	arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CTTACTCTTTGAAGGAGCCGT	0.527																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(460-462)ttC>ttT		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						113.0	119.0	117.0					17																	26114709		2203	4300	6503	SO:0001819	synonymous_variant	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26114709G>A	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.462C>T	17.37:g.26114709G>A							p.F154F	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			5	695	-			154	F -> L (in Ref. 4; AAA56666).				A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Silent	SNP	ENST00000313735.6	37	c.462C>T	CCDS11223.1																																																																																				0.527	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		8	117	0	0	0	1	0	8	117				
LUZP4	51213	broad.mit.edu	37	X	114537943	114537943	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:114537943C>T	ENST00000371920.3	+	3	309	c.302C>T	c.(301-303)tCt>tTt	p.S101F	LUZP4_ENST00000451986.2_Intron	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	101						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GGATTCAAGTCTGGACAACAC	0.333																																						ENST00000371920.3																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						c.(301-303)tCt>tTt		leucine zipper protein 4							114.0	110.0	112.0					X																	114537943		2203	4300	6503	SO:0001583	missense	51213					nucleus		g.chrX:114537943C>T	AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.302C>T	X.37:g.114537943C>T	ENSP00000360988:p.Ser101Phe					LUZP4_ENST00000451986.2_Intron	p.S101F	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN			3	309	+			101					B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	c.302C>T	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.304418	0.40795	.	.	ENSG00000102021	ENST00000371920	T	0.39787	1.06	3.2	0.31	0.15825	.	.	.	.	.	T	0.23133	0.0559	N	0.24115	0.695	0.09310	N	0.999998	P	0.35844	0.524	B	0.32465	0.146	T	0.15037	-1.0451	9	0.59425	D	0.04	.	3.0742	0.06241	0.0:0.4856:0.2293:0.2851	.	101	Q9P127	LUZP4_HUMAN	F	101	ENSP00000360988:S101F	ENSP00000360988:S101F	S	+	2	0	LUZP4	114444199	0.009000	0.17119	0.066000	0.19879	0.336000	0.28762	0.235000	0.17948	-0.048000	0.13401	0.513000	0.50165	TCT		0.333	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		33	124	0	0	0	1	0	33	124				
CRB1	23418	broad.mit.edu	37	1	197398707	197398707	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:197398707C>T	ENST00000367400.3	+	8	2940	c.2805C>T	c.(2803-2805)caC>caT	p.H935H	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000367399.2_Silent_p.H823H|CRB1_ENST00000535699.1_Silent_p.H911H|CRB1_ENST00000544212.1_Silent_p.H416H|CRB1_ENST00000367397.1_Silent_p.H316H	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	935	EGF-like 14. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.H935Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGTGTCCTCACGGAGCCCAGT	0.532																																						ENST00000367397.1																			1	Substitution - Missense(1)	p.H935Q(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(946-948)caC>caT		crumbs homolog 1 (Drosophila)							111.0	95.0	100.0					1																	197398707		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197398707C>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.2805C>T	1.37:g.197398707C>T						CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Silent_p.H911H|CRB1_ENST00000544212.1_Silent_p.H416H|CRB1_ENST00000367399.2_Silent_p.H823H|CRB1_ENST00000367400.3_Silent_p.H935H	p.H316H			P82279	CRUM1_HUMAN			4	1806	+			935			EGF-like 8.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.948C>T	CCDS1390.1																																																																																				0.532	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		25	38	0	0	0	1	0	25	38				
MORC4	79710	broad.mit.edu	37	X	106229364	106229364	+	Silent	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:106229364G>A	ENST00000355610.4	-	4	649	c.375C>T	c.(373-375)ttC>ttT	p.F125F	MORC4_ENST00000535534.1_Intron|MORC4_ENST00000255495.7_Silent_p.F125F	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	125						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AGCCTGACTTGAAACCATTAC	0.433																																						ENST00000355610.4																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(373-375)ttC>ttT		MORC family CW-type zinc finger 4							169.0	157.0	161.0					X																	106229364		1872	4088	5960	SO:0001819	synonymous_variant	79710						ATP binding|zinc ion binding	g.chrX:106229364G>A	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.375C>T	X.37:g.106229364G>A						MORC4_ENST00000535534.1_Intron|MORC4_ENST00000255495.7_Silent_p.F125F	p.F125F	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN			4	649	-			125					A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Silent	SNP	ENST00000355610.4	37	c.375C>T	CCDS14525.2																																																																																				0.433	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657		37	164	0	0	0	1	0	37	164				
SIDT1	54847	broad.mit.edu	37	3	113345036	113345036	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:113345036G>A	ENST00000264852.4	+	24	3121	c.2395G>A	c.(2395-2397)Gct>Act	p.A799T	SIDT1_ENST00000463226.1_3'UTR|SIDT1_ENST00000393830.3_Missense_Mutation_p.A804T	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	799					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						CTTCCTCTCTGCTACTGCTCT	0.463																																						ENST00000264852.4																			0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2395-2397)Gct>Act		SID1 transmembrane family, member 1							216.0	202.0	207.0					3																	113345036		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113345036G>A	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.2395G>A	3.37:g.113345036G>A	ENSP00000264852:p.Ala799Thr					SIDT1_ENST00000393830.3_Missense_Mutation_p.A804T|SIDT1_ENST00000463226.1_3'UTR	p.A799T	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN			24	3121	+			799					Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.2395G>A	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516490	0.85495	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.36699	1.24;1.24	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000011	T	0.62660	0.2446	M	0.79614	2.46	0.54753	D	0.999989	D;D	0.69078	0.997;0.995	D;D	0.71870	0.975;0.973	T	0.66670	-0.5865	10	0.87932	D	0	-12.9378	18.1063	0.89521	0.0:0.0:1.0:0.0	.	804;799	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	T	799;804	ENSP00000264852:A799T;ENSP00000377416:A804T	ENSP00000264852:A799T	A	+	1	0	SIDT1	114827726	1.000000	0.71417	0.793000	0.32043	0.825000	0.46686	3.160000	0.50739	2.565000	0.86533	0.655000	0.94253	GCT		0.463	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		7	105	0	0	0	1	0	7	105				
ANKRD30B	374860	broad.mit.edu	37	18	14822646	14822646	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:14822646G>A	ENST00000358984.4	+	26	2536	c.2356G>A	c.(2356-2358)Gaa>Aaa	p.E786K	RP11-1157N2__B.2_ENST00000581117.1_RNA	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	786										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAAAGCCTTAGAATTGAAGGA	0.284																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(2356-2358)Gaa>Aaa		ankyrin repeat domain 30B							4.0	3.0	4.0					18																	14822646		645	1409	2054	SO:0001583	missense	374860							g.chr18:14822646G>A	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.2356G>A	18.37:g.14822646G>A	ENSP00000351875:p.Glu786Lys					RP11-1157N2__B.2_ENST00000581117.1_RNA	p.E786K	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			26	2536	+			871					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.2356G>A	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	g	10.76	1.440577	0.25900	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.05996	3.36	0.958	0.958	0.19619	.	.	.	.	.	T	0.05364	0.0142	N	0.14661	0.345	0.09310	N	0.999999	P	0.37398	0.593	P	0.45577	0.486	T	0.44345	-0.9334	9	0.33141	T	0.24	.	5.3127	0.15839	0.0:0.0:1.0:0.0	.	786	F8WAG3	.	K	786;180;206	ENSP00000351875:E786K	ENSP00000277669:E206K	E	+	1	0	ANKRD30B	14812646	0.004000	0.15560	0.001000	0.08648	0.068000	0.16541	1.315000	0.33608	0.846000	0.35142	0.289000	0.19496	GAA		0.284	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		3	7	0	0	0	1	0	3	7				
NLRC5	84166	broad.mit.edu	37	16	57111636	57111636	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr16:57111636C>T	ENST00000262510.6	+	42	5150	c.4925C>T	c.(4924-4926)tCa>tTa	p.S1642L	NLRC5_ENST00000308149.7_Missense_Mutation_p.S1613L|NLRC5_ENST00000539144.1_Missense_Mutation_p.S1613L|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1642					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CACAGCCTCTCAGGGAATAGC	0.647																																						ENST00000262510.6																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(4924-4926)tCa>tTa		NLR family, CARD domain containing 5							71.0	75.0	73.0					16																	57111636		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57111636C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4925C>T	16.37:g.57111636C>T	ENSP00000262510:p.Ser1642Leu					NLRC5_ENST00000539144.1_Missense_Mutation_p.S1613L|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Missense_Mutation_p.S1613L	p.S1642L	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN			42	5150	+		all_neural(199;0.225)	1642					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.4925C>T	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962579	0.53400	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.13307	2.6;2.6;2.6	4.81	4.81	0.61882	.	0.000000	0.27613	N	0.018594	T	0.31358	0.0794	L	0.59436	1.845	0.80722	D	1	D	0.64830	0.994	D	0.76071	0.987	T	0.00617	-1.1642	10	0.34782	T	0.22	.	13.2432	0.60008	0.0:1.0:0.0:0.0	.	1642	Q86WI3	NLRC5_HUMAN	L	1642;1613;1613	ENSP00000262510:S1642L;ENSP00000308886:S1613L;ENSP00000441727:S1613L	ENSP00000262510:S1642L	S	+	2	0	NLRC5	55669137	0.966000	0.33281	0.958000	0.39756	0.089000	0.18198	2.392000	0.44433	2.491000	0.84063	0.655000	0.94253	TCA		0.647	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		21	52	0	0	0	1	0	21	52				
MET	4233	broad.mit.edu	37	7	116340200	116340200	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:116340200C>T	ENST00000318493.6	+	2	1249	c.1062C>T	c.(1060-1062)gcC>gcT	p.A354A	MET_ENST00000397752.3_Silent_p.A354A|MET_ENST00000436117.2_Silent_p.A354A			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAGATTCTGCCGAACCAATGG	0.473			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(1060-1062)gcC>gcT		met proto-oncogene							73.0	69.0	71.0					7																	116340200		1958	4154	6112	SO:0001819	synonymous_variant	4233	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116340200C>T	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1062C>T	7.37:g.116340200C>T						MET_ENST00000436117.2_Silent_p.A354A|MET_ENST00000318493.6_Silent_p.A354A	p.A354A	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		2	1262	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	354			Sema.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	c.1062C>T	CCDS47689.1																																																																																				0.473	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			12	43	0	0	0	1	0	12	43				
IRAK1	3654	broad.mit.edu	37	X	153283528	153283528	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:153283528G>A	ENST00000369980.3	-	7	1005	c.838C>T	c.(838-840)Cag>Tag	p.Q280*	MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000369974.2_Nonsense_Mutation_p.Q280*|IRAK1_ENST00000393687.2_Nonsense_Mutation_p.Q280*|IRAK1_ENST00000393682.1_Nonsense_Mutation_p.Q306*|IRAK1_ENST00000429936.2_Nonsense_Mutation_p.Q306*	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.Q280*(2)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGCCGTTCTGAGCACAGTAG	0.602																																						ENST00000369980.3																			2	Substitution - Nonsense(2)	p.Q280*(2)	kidney(2)	breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25						c.(838-840)Cag>Tag		interleukin-1 receptor-associated kinase 1							125.0	89.0	101.0					X																	153283528		2203	4300	6503	SO:0001587	stop_gained	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153283528G>A	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.838C>T	X.37:g.153283528G>A	ENSP00000358997:p.Gln280*					IRAK1_ENST00000429936.2_Nonsense_Mutation_p.Q306*|IRAK1_ENST00000393682.1_Nonsense_Mutation_p.Q306*|IRAK1_ENST00000393687.2_Nonsense_Mutation_p.Q280*|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000369974.2_Nonsense_Mutation_p.Q280*	p.Q280*	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN			7	1005	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		280			Protein kinase.		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Nonsense_Mutation	SNP	ENST00000369980.3	37	c.838C>T	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	32|32	5.112105|5.112105	0.94339|0.94339	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936|ENST00000443220	.|.	.|.	.|.	5.07|5.07	0.958|0.958	0.19619|0.19619	.|.	0.462954|.	0.18626|.	N|.	0.135720|.	.|T	.|0.70535	.|0.3235	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74478	.|-0.3652	.|3	0.54805|.	T|.	0.06|.	-10.2744|-10.2744	18.1033|18.1033	0.89513|0.89513	0.0:0.7255:0.2745:0.0|0.0:0.7255:0.2745:0.0	.|.	.|.	.|.	.|.	X|L	280;280;306;280;306|50	.|.	ENSP00000358991:Q280X|.	Q|S	-|-	1|2	0|0	IRAK1|IRAK1	152936722|152936722	0.670000|0.670000	0.27512|0.27512	0.099000|0.099000	0.21106|0.21106	0.529000|0.529000	0.34654|0.34654	1.251000|1.251000	0.32862|0.32862	0.041000|0.041000	0.15688|0.15688	0.529000|0.529000	0.55759|0.55759	CAG|TCA		0.602	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			12	80	0	0	0	1	0	12	80				
OR4D5	219875	broad.mit.edu	37	11	123811134	123811134	+	Missense_Mutation	SNP	G	G	A	rs564572858		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:123811134G>A	ENST00000307033.2	+	1	885	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	271						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V271I(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACAAGGCCGTCTCTGTGCT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		22065	0.0		0.0	False		,,,				2504	0.001					ENST00000307033.2																			1	Substitution - Missense(1)	p.V271I(1)	prostate(1)	autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(811-813)Gtc>Atc		olfactory receptor, family 4, subfamily D, member 5							161.0	131.0	141.0					11																	123811134		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811134G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.811G>A	11.37:g.123811134G>A	ENSP00000305970:p.Val271Ile						p.V271I	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	885	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	271					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.811G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	8.169	0.791230	0.16258	.	.	ENSG00000171014	ENST00000307033	T	0.36878	1.23	5.49	2.39	0.29439	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000538	T	0.25344	0.0616	L	0.37850	1.14	0.09310	N	1	B	0.14438	0.01	B	0.24006	0.05	T	0.16394	-1.0404	10	0.29301	T	0.29	-13.4657	7.0729	0.25189	0.1492:0.2545:0.5963:0.0	.	271	Q8NGN0	OR4D5_HUMAN	I	271	ENSP00000305970:V271I	ENSP00000305970:V271I	V	+	1	0	OR4D5	123316344	0.000000	0.05858	0.168000	0.22838	0.830000	0.47004	0.194000	0.17135	0.658000	0.30925	0.650000	0.86243	GTC		0.493	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		24	109	0	0	0	1	0	24	109				
ARHGAP9	64333	broad.mit.edu	37	12	57869285	57869285	+	Silent	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:57869285G>C	ENST00000356411.2	-	11	1620	c.1482C>G	c.(1480-1482)ctC>ctG	p.L494L	ARHGAP9_ENST00000550288.1_Silent_p.L554L|ARHGAP9_ENST00000393791.3_Silent_p.L475L|ARHGAP9_ENST00000550454.1_5'Flank|ARHGAP9_ENST00000424809.2_Silent_p.L475L|ARHGAP9_ENST00000393797.2_Silent_p.L565L|ARHGAP9_ENST00000430041.2_Silent_p.L291L			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	494	Lipid binding.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GGCGGCTGCTGAGGCGCAGCA	0.731																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(1693-1695)ctC>ctG		Rho GTPase activating protein 9							8.0	10.0	9.0					12																	57869285		2176	4264	6440	SO:0001819	synonymous_variant	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57869285G>C	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.1482C>G	12.37:g.57869285G>C						ARHGAP9_ENST00000393791.3_Silent_p.L475L|ARHGAP9_ENST00000430041.2_Silent_p.L291L|ARHGAP9_ENST00000424809.2_Silent_p.L475L|ARHGAP9_ENST00000356411.2_Silent_p.L494L|ARHGAP9_ENST00000550288.1_Silent_p.L554L	p.L565L			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		14	1887	-			494			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	ENST00000356411.2	37	c.1695C>G																																																																																					0.731	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		4	10	0	0	0	1	0	4	10				
PKDREJ	10343	broad.mit.edu	37	22	46658465	46658465	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr22:46658465G>A	ENST00000253255.5	-	1	754	c.755C>T	c.(754-756)gCg>gTg	p.A252V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	252	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GATGGCGCGCGCGGCCGGGCA	0.706																																						ENST00000253255.5																			0				NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73						c.(754-756)gCg>gTg		polycystin (PKD) family receptor for egg jelly							24.0	29.0	27.0					22																	46658465		2196	4294	6490	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46658465G>A	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.755C>T	22.37:g.46658465G>A	ENSP00000253255:p.Ala252Val						p.A252V	NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	754	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	252			REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.755C>T	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083466	0.55861	.	.	ENSG00000130943	ENST00000253255	T	0.71698	-0.59	3.9	-5.63	0.02474	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	11.549400	0.01294	N	0.010108	T	0.56863	0.2014	L	0.48642	1.525	0.09310	N	1	B	0.18968	0.032	B	0.10450	0.005	T	0.24977	-1.0145	10	0.33940	T	0.23	0.3856	1.5159	0.02506	0.1413:0.2263:0.2871:0.3453	.	252	Q9NTG1	PKDRE_HUMAN	V	252	ENSP00000253255:A252V	ENSP00000253255:A252V	A	-	2	0	PKDREJ	45037129	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.485000	0.06520	-1.306000	0.02324	-0.444000	0.05651	GCG		0.706	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		9	49	0	0	0	1	0	9	49				
LRRC47	57470	broad.mit.edu	37	1	3712433	3712433	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:3712433G>A	ENST00000378251.1	-	1	635	c.608C>T	c.(607-609)tCg>tTg	p.S203L		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	203							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GACCTTGAGCGAGGCCAGGTG	0.701																																						ENST00000378251.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(607-609)tCg>tTg		leucine rich repeat containing 47							9.0	11.0	10.0					1																	3712433		2150	4216	6366	SO:0001583	missense	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3712433G>A	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.608C>T	1.37:g.3712433G>A	ENSP00000367498:p.Ser203Leu						p.S203L	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	1	635	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	203					Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	37	c.608C>T	CCDS51.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012326	0.54468	.	.	ENSG00000130764	ENST00000378251	T	0.10668	2.85	3.74	3.74	0.42951	.	0.370925	0.26560	N	0.023685	T	0.08403	0.0209	L	0.35341	1.055	0.29913	N	0.823399	P	0.48407	0.91	B	0.38655	0.278	T	0.07616	-1.0763	10	0.52906	T	0.07	-6.8519	11.0869	0.48093	0.0:0.1882:0.8118:0.0	.	203	Q8N1G4	LRC47_HUMAN	L	203	ENSP00000367498:S203L	ENSP00000367498:S203L	S	-	2	0	LRRC47	3702293	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.039000	0.57325	1.813000	0.52934	0.555000	0.69702	TCG		0.701	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710		4	3	0	0	0	1	0	4	3				
CERS2	29956	broad.mit.edu	37	1	150940946	150940946	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:150940946C>T	ENST00000271688.6	-	3	602	c.216G>A	c.(214-216)gaG>gaA	p.E72E	CERS2_ENST00000561294.1_Silent_p.E72E|RP11-316M1.12_ENST00000560481.1_RNA|RP11-316M1.12_ENST00000561111.1_RNA|CERS2_ENST00000368954.5_Silent_p.E72E|CERS2_ENST00000345896.4_5'UTR	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN	ceramide synthase 2	72					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear membrane (GO:0031965)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										GCCGAGTTTTCTCCTTTATGT	0.562																																						ENST00000271688.6																			0											c.(214-216)gaG>gaA		ceramide synthase 2							76.0	75.0	75.0					1																	150940946		2203	4300	6503	SO:0001819	synonymous_variant	29956					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr1:150940946C>T	AF189062	CCDS973.1	1q21.3	2012-09-20	2011-07-08	2011-07-08	ENSG00000143418	ENSG00000143418		"""Homeoboxes / CERS class"""	14076	protein-coding gene	gene with protein product		606920	"""longevity assurance (LAG1, S. cerevisiae) homolog 2"", ""LAG1 longevity assurance homolog 2 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 2"""	LASS2		11543633	Standard	NM_181746		Approved	SP260, FLJ10243	uc001evz.3	Q96G23	OTTHUMG00000035064	ENST00000271688.6:c.216G>A	1.37:g.150940946C>T						CERS2_ENST00000368954.5_Silent_p.E72E|CERS2_ENST00000561294.1_Silent_p.E72E|CERS2_ENST00000345896.4_5'UTR	p.E72E	NM_181746.3	NP_859530.1	Q96G23	CERS2_HUMAN			3	602	-			72					D3DV06|Q5SZE5|Q9HD96|Q9NW79	Silent	SNP	ENST00000271688.6	37	c.216G>A	CCDS973.1																																																																																				0.562	CERS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084897.2	NM_022075		5	71	0	0	0	1	0	5	71				
CDC40	51362	broad.mit.edu	37	6	110514412	110514412	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:110514412G>T	ENST00000368932.1	+	3	318	c.217G>T	c.(217-219)Gac>Tac	p.D73Y	CDC40_ENST00000368930.1_Missense_Mutation_p.D73Y|CDC40_ENST00000307731.1_Missense_Mutation_p.D73Y			O60508	PRP17_HUMAN	cell division cycle 40	73					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		AGTTCACCTTGACCCTGCCGT	0.338																																						ENST00000368932.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18						c.(217-219)Gac>Tac		cell division cycle 40							114.0	110.0	111.0					6																	110514412		2203	4300	6503	SO:0001583	missense	51362				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm		g.chr6:110514412G>T	AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.217G>T	6.37:g.110514412G>T	ENSP00000357928:p.Asp73Tyr					CDC40_ENST00000307731.1_Missense_Mutation_p.D73Y|CDC40_ENST00000368930.1_Missense_Mutation_p.D73Y|CDC40_ENST00000368933.1_Missense_Mutation_p.D73Y	p.D73Y			O60508	PRP17_HUMAN		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)	3	318	+		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)	73					B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	ENST00000368932.1	37	c.217G>T	CCDS5081.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.676185	0.88445	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731;ENST00000439165	T;T;T;T	0.63255	0.11;-0.03;-0.03;0.11	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.75752	0.3892	M	0.82323	2.585	0.80722	D	1	D	0.54601	0.967	P	0.57720	0.826	T	0.78957	-0.1999	10	0.87932	D	0	-0.4322	19.8254	0.96616	0.0:0.0:1.0:0.0	.	73	O60508	PRP17_HUMAN	Y	73	ENSP00000357928:D73Y;ENSP00000357929:D73Y;ENSP00000357926:D73Y;ENSP00000304370:D73Y	ENSP00000304370:D73Y	D	+	1	0	CDC40	110621105	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.055000	0.93873	2.754000	0.94517	0.655000	0.94253	GAC		0.338	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041791.1	NM_015891		11	52	1	0	2.27111e-07	1	2.34272e-07	11	52				
ABCC2	1244	broad.mit.edu	37	10	101604094	101604094	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr10:101604094G>A	ENST00000370449.4	+	28	3972	c.3859G>A	c.(3859-3861)Gat>Aat	p.D1287N		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1287					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	CTGGGTGACTGATAAGAGGCC	0.527																																						ENST00000370449.4																			0				NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67						c.(3859-3861)Gat>Aat		ATP-binding cassette, sub-family C (CFTR/MRP), member 2	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						85.0	81.0	82.0					10																	101604094		2203	4300	6503	SO:0001583	missense	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101604094G>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.3859G>A	10.37:g.101604094G>A	ENSP00000359478:p.Asp1287Asn						p.D1287N	NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	28	3972	+		Colorectal(252;0.234)	1287					B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	c.3859G>A	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250556	0.22880	.	.	ENSG00000023839	ENST00000370449	D	0.82433	-1.61	5.79	3.94	0.45596	.	0.523251	0.23204	N	0.050757	T	0.70046	0.3179	L	0.29908	0.895	0.22911	N	0.998579	B	0.30326	0.276	B	0.25759	0.063	T	0.62613	-0.6817	10	0.52906	T	0.07	0.6965	6.6478	0.22945	0.2024:0.0:0.6648:0.1327	.	1287	Q92887	MRP2_HUMAN	N	1287	ENSP00000359478:D1287N	ENSP00000359478:D1287N	D	+	1	0	ABCC2	101594084	1.000000	0.71417	0.492000	0.27490	0.315000	0.28087	3.860000	0.55995	1.452000	0.47756	0.655000	0.94253	GAT		0.527	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		20	39	0	0	0	1	0	20	39				
CYP3A4	1576	broad.mit.edu	37	7	99370264	99370264	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:99370264C>T	ENST00000336411.2	-	4	450	c.267G>A	c.(265-267)atG>atA	p.M89I	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	89					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	CTGTTTTGATCATGTCAGGAT	0.353																																						ENST00000336411.2																			0				breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						c.(265-267)atG>atA		cytochrome P450, family 3, subfamily A, polypeptide 4	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						146.0	134.0	138.0					7																	99370264		2203	4300	6503	SO:0001583	missense	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99370264C>T	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.267G>A	7.37:g.99370264C>T	ENSP00000337915:p.Met89Ile					CYP3A4_ENST00000354593.2_Intron	p.M89I	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN			4	450	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		89					P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	c.267G>A	CCDS5674.1	.	.	.	.	.	.	.	.	.	.	C	4.140	0.024256	0.08006	.	.	ENSG00000160868	ENST00000336411;ENST00000415003	T;T	0.66995	-0.24;-0.24	5.02	-4.79	0.03200	.	0.333931	0.35124	N	0.003437	T	0.29223	0.0727	N	0.05487	-0.04	0.47374	D	0.9994	B;B;B;B	0.09022	0.0;0.002;0.002;0.002	B;B;B;B	0.17098	0.007;0.017;0.017;0.017	T	0.19321	-1.0309	10	0.07325	T	0.83	.	1.5201	0.02514	0.2353:0.1859:0.1155:0.4633	.	16;89;89;89	Q7Z448;Q6GRK0;Q86SK3;P08684	.;.;.;CP3A4_HUMAN	I	89;102	ENSP00000337915:M89I;ENSP00000397208:M102I	ENSP00000337915:M89I	M	-	3	0	CYP3A4	99208200	0.615000	0.27026	0.217000	0.23759	0.604000	0.37047	-0.449000	0.06812	-0.340000	0.08388	-0.808000	0.03180	ATG		0.353	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1			4	120	0	0	0	1	0	4	120				
PHLDB2	90102	broad.mit.edu	37	3	111632476	111632476	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:111632476G>A	ENST00000431670.2	+	3	2057	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	PHLDB2_ENST00000495180.1_Missense_Mutation_p.R135Q|PHLDB2_ENST00000477695.1_Missense_Mutation_p.R549Q|PHLDB2_ENST00000481953.1_Missense_Mutation_p.R549Q|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R576Q|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R549Q|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R549Q	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	549						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GACCTCACCCGGACTCCTCCA	0.522																																						ENST00000431670.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						c.(1645-1647)cGg>cAg		pleckstrin homology-like domain, family B, member 2							158.0	169.0	165.0					3																	111632476		2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111632476G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1646G>A	3.37:g.111632476G>A	ENSP00000405405:p.Arg549Gln					PHLDB2_ENST00000412622.1_Missense_Mutation_p.R549Q|PHLDB2_ENST00000481953.1_Missense_Mutation_p.R549Q|PHLDB2_ENST00000495180.1_Missense_Mutation_p.R135Q|PHLDB2_ENST00000477695.1_Missense_Mutation_p.R549Q|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R576Q|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R549Q	p.R549Q	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN			3	2057	+			549					A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.1646G>A	CCDS46886.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.586834	0.28268	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000477695;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.29655	1.57;1.57;1.57;1.57;1.57;1.57;1.56	5.48	3.43	0.39272	.	0.414332	0.28104	N	0.016594	T	0.11836	0.0288	N	0.22421	0.69	0.24431	N	0.994571	B;B;P;B;B	0.42871	0.005;0.217;0.792;0.104;0.335	B;B;B;B;B	0.28709	0.001;0.011;0.093;0.024;0.024	T	0.15378	-1.0439	10	0.13108	T	0.6	.	4.4282	0.11515	0.205:0.2129:0.582:0.0	.	135;549;549;549;576	E9PGF6;Q86SQ0;G5E9V3;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.;.	Q	576;576;549;549;549;549;549;549;135	ENSP00000377500:R576Q;ENSP00000405405:R549Q;ENSP00000405292:R549Q;ENSP00000418296:R549Q;ENSP00000377502:R549Q;ENSP00000418319:R549Q;ENSP00000420303:R135Q	ENSP00000352764:R576Q	R	+	2	0	PHLDB2	113115166	0.951000	0.32395	0.989000	0.46669	0.152000	0.21847	1.950000	0.40323	0.641000	0.30601	0.555000	0.69702	CGG		0.522	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		6	208	0	0	0	1	0	6	208				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	43	0	0	0	1	0	4	43				
PAK7	57144	broad.mit.edu	37	20	9546591	9546591	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr20:9546591C>T	ENST00000378429.3	-	6	1977	c.1431G>A	c.(1429-1431)gtG>gtA	p.V477V	PAK7_ENST00000353224.5_Silent_p.V477V|PAK7_ENST00000378423.1_Silent_p.V477V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	477	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCATTTTCTTCACTGCAACTT	0.458																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1429-1431)gtG>gtA		p21 protein (Cdc42/Rac)-activated kinase 7							283.0	259.0	267.0					20																	9546591		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546591C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1431G>A	20.37:g.9546591C>T						PAK7_ENST00000378423.1_Silent_p.V477V|PAK7_ENST00000353224.5_Silent_p.V477V	p.V477V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1977	-			477			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.1431G>A	CCDS13107.1																																																																																				0.458	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			50	127	0	0	0	1	0	50	127				
HMG20B	10362	broad.mit.edu	37	19	3578065	3578065	+	Missense_Mutation	SNP	G	G	A	rs549776224		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:3578065G>A	ENST00000333651.6	+	9	970	c.895G>A	c.(895-897)Gag>Aag	p.E299K		NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	299					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of protein sumoylation (GO:0033234)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCCAGCACGAGAAGCTCAT	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		10082	0.0		0.0	False		,,,				2504	0.001					ENST00000333651.6																			0				cervix(1)	1						c.(895-897)Gag>Aag		high mobility group 20B							22.0	28.0	26.0					19																	3578065		1972	4116	6088	SO:0001583	missense	10362				blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:3578065G>A	BC003505	CCDS45919.1	19p13.3	2011-07-01	2011-04-05		ENSG00000064961	ENSG00000064961		"""High mobility group / Non-canonical"""	5002	protein-coding gene	gene with protein product	"""HMG box domain containing 2"""	605535	"""high-mobility group 20B"""			10773667	Standard	NM_006339		Approved	SOXL, HMGX2, BRAF35, SMARCE1r, BRAF25, HMGXB2	uc002lya.3	Q9P0W2	OTTHUMG00000150437	ENST00000333651.6:c.895G>A	19.37:g.3578065G>A	ENSP00000328269:p.Glu299Lys						p.E299K	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	9	970	+		Hepatocellular(1079;0.137)	299					A6NMS5|D6W616|Q6IBP8|Q8NBD5|Q9HD21|Q9Y491|Q9Y4A2	Missense_Mutation	SNP	ENST00000333651.6	37	c.895G>A	CCDS45919.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	18.87|18.87	3.716379|3.716379	0.68844|0.68844	.|.	.|.	ENSG00000064961|ENSG00000064961	ENST00000333651|ENST00000402569	T|.	0.68479|.	-0.33|.	4.38|4.38	3.34|3.34	0.38264|0.38264	.|.	0.716340|.	0.13066|.	N|.	0.416497|.	T|T	0.50854|0.50854	0.1640|0.1640	L|L	0.51422|0.51422	1.61|1.61	0.28507|0.28507	N|N	0.913721|0.913721	D|.	0.53885|.	0.963|.	B|.	0.41988|.	0.372|.	T|T	0.50101|0.50101	-0.8867|-0.8867	10|6	0.27082|0.87932	T|D	0.32|0	-18.2923|-18.2923	10.9741|10.9741	0.47456|0.47456	0.0938:0.0:0.9062:0.0|0.0938:0.0:0.9062:0.0	.|.	299|.	Q9P0W2|.	HM20B_HUMAN|.	K|Q	299|128	ENSP00000328269:E299K|.	ENSP00000328269:E299K|ENSP00000385987:R128Q	E|R	+|+	1|2	0|0	HMG20B|HMG20B	3529065|3529065	1.000000|1.000000	0.71417|0.71417	0.723000|0.723000	0.30687|0.30687	0.895000|0.895000	0.52256|0.52256	3.902000|3.902000	0.56310|0.56310	0.839000|0.839000	0.34971|0.34971	0.486000|0.486000	0.48141|0.48141	GAG|CGA		0.706	HMG20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318088.1	NM_006339		5	31	0	0	0	1	0	5	31				
ZNF546	339327	broad.mit.edu	37	19	40521147	40521147	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:40521147G>C	ENST00000347077.4	+	7	2186	c.1970G>C	c.(1969-1971)aGa>aCa	p.R657T	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.R631T	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	657					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R657I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAACATCACAGAATTCATACT	0.433																																						ENST00000347077.4																			1	Substitution - Missense(1)	p.R657I(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34						c.(1969-1971)aGa>aCa		zinc finger protein 546							71.0	66.0	68.0					19																	40521147		2203	4300	6503	SO:0001583	missense	339327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40521147G>C	BC045649	CCDS12548.1	19q13.2	2013-01-08				ENSG00000187187		"""Zinc fingers, C2H2-type"", ""-"""	28671	protein-coding gene	gene with protein product				ZNF49		12477932	Standard	XM_005258853		Approved	MGC43537	uc002oms.2	Q86UE3		ENST00000347077.4:c.1970G>C	19.37:g.40521147G>C	ENSP00000339823:p.Arg657Thr					ZNF546_ENST00000600094.1_Missense_Mutation_p.R631T|ZNF546_ENST00000596894.1_Intron	p.R657T	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN			7	2186	+	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		657					A8K913	Missense_Mutation	SNP	ENST00000347077.4	37	c.1970G>C	CCDS12548.1	.	.	.	.	.	.	.	.	.	.	g	14.41	2.527053	0.44969	.	.	ENSG00000187187	ENST00000347077;ENST00000392042	T	0.25414	1.8	2.68	1.64	0.23874	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34164	0.0888	L	0.56280	1.765	0.25877	N	0.983637	D	0.56968	0.978	P	0.57283	0.817	T	0.11446	-1.0587	9	0.56958	D	0.05	.	4.6624	0.12648	0.3005:0.0:0.6995:0.0	.	657	Q86UE3	ZN546_HUMAN	T	657;266	ENSP00000339823:R657T	ENSP00000339823:R657T	R	+	2	0	ZNF546	45212987	0.000000	0.05858	0.817000	0.32601	0.970000	0.65996	0.597000	0.24059	0.687000	0.31509	0.591000	0.81541	AGA		0.433	ZNF546-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462495.2	NM_178544		4	39	0	0	0	1	0	4	39				
ENO3	2027	broad.mit.edu	37	17	4858564	4858564	+	Silent	SNP	C	C	T	rs373847361		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:4858564C>T	ENST00000323997.6	+	7	771	c.639C>T	c.(637-639)ttC>ttT	p.F213F	ENO3_ENST00000519584.1_Silent_p.F170F|ENO3_ENST00000518175.1_Silent_p.F213F	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	213					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						AAGGTGGCTTCGCACCCAACA	0.607																																						ENST00000323997.6																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						c.(637-639)ttC>ttT		enolase 3 (beta, muscle)		C	,,	0,4406		0,0,2203	74.0	66.0	69.0		510,639,639	-4.3	1.0	17		69	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ENO3	NM_001193503.1,NM_001976.4,NM_053013.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	170/392,213/435,213/435	4858564	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2027				gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity	g.chr17:4858564C>T	X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.639C>T	17.37:g.4858564C>T						ENO3_ENST00000518175.1_Silent_p.F213F|ENO3_ENST00000519584.1_Silent_p.F170F	p.F213F	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN			7	771	+			213					B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Silent	SNP	ENST00000323997.6	37	c.639C>T	CCDS11062.1																																																																																				0.607	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2			13	45	0	0	0	1	0	13	45				
MTCL1	23255	broad.mit.edu	37	18	8828905	8828905	+	Splice_Site	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:8828905G>A	ENST00000306329.11	+	14	5679		c.e14-1		SOGA2_ENST00000400050.3_Splice_Site|SOGA2_ENST00000306285.7_Intron|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000359865.3_Splice_Site|SOGA2_ENST00000517570.1_Splice_Site																							GTTCTGTCCAGAACCAAACTG	0.483																																						ENST00000359865.3																			0											c.e16-1		SOGA family member 2							117.0	99.0	105.0					18																	8828905		2203	4300	6503	SO:0001630	splice_region_variant	23255							g.chr18:8828905G>A																												ENST00000306329.11:c.5680-1G>A	18.37:g.8828905G>A						SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000517570.1_Splice_Site|SOGA2_ENST00000306285.7_Intron|SOGA2_ENST00000400050.3_Splice_Site|SOGA2_ENST00000306329.11_Splice_Site		NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			16	4864	+									Splice_Site	SNP	ENST00000306329.11	37			.	.	.	.	.	.	.	.	.	.	G	29.4	5.000876	0.93227	.	.	ENSG00000168502	ENST00000517570;ENST00000359865;ENST00000400050	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3473	0.98799	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC165	8818905	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.568000	0.98166	2.884000	0.98904	0.655000	0.94253	.		0.483	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1		Intron	11	55	0	0	0	1	0	11	55				
NEBL	10529	broad.mit.edu	37	10	21117520	21117520	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr10:21117520G>C	ENST00000377122.4	-	17	2111	c.1715C>G	c.(1714-1716)tCt>tGt	p.S572C	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	572					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.S572F(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCTATGGTAGAATAGTTAGA	0.343																																						ENST00000377122.4																			1	Substitution - Missense(1)	p.S572F(1)	urinary_tract(1)	NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(1714-1716)tCt>tGt		nebulette							92.0	88.0	89.0					10																	21117520		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21117520G>C	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1715C>G	10.37:g.21117520G>C	ENSP00000366326:p.Ser572Cys					NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	p.S572C	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN			17	2111	-			572					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1715C>G	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.658892	0.47467	.	.	ENSG00000078114	ENST00000377122	T	0.05717	3.4	5.84	3.97	0.46021	.	0.417167	0.26746	N	0.022717	T	0.09555	0.0235	L	0.51914	1.62	0.80722	D	1	B	0.28667	0.219	B	0.35931	0.214	T	0.07102	-1.0790	10	0.56958	D	0.05	.	11.3531	0.49600	0.0688:0.1275:0.8037:0.0	.	572	O76041	NEBL_HUMAN	C	572	ENSP00000366326:S572C	ENSP00000366326:S572C	S	-	2	0	NEBL	21157526	0.909000	0.30893	0.705000	0.30386	0.836000	0.47400	1.281000	0.33214	0.791000	0.33826	0.650000	0.86243	TCT		0.343	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393		6	20	0	0	0	1	0	6	20				
RPH3A	22895	broad.mit.edu	37	12	113325692	113325692	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:113325692G>C	ENST00000389385.4	+	17	2024	c.1527G>C	c.(1525-1527)agG>agC	p.R509S	RPH3A_ENST00000415485.3_Missense_Mutation_p.R509S|RPH3A_ENST00000420983.2_Missense_Mutation_p.R509S|RPH3A_ENST00000551052.1_Missense_Mutation_p.R505S|RPH3A_ENST00000548866.1_Missense_Mutation_p.R460S|RPH3A_ENST00000543106.2_Missense_Mutation_p.R509S|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000447659.2_Missense_Mutation_p.R460S	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	509					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CCAACCAGAGGAAGAATTTCA	0.502																																						ENST00000389385.4																			0				breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47						c.(1525-1527)agG>agC		rabphilin 3A homolog (mouse)							155.0	159.0	158.0					12																	113325692		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113325692G>C	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1527G>C	12.37:g.113325692G>C	ENSP00000374036:p.Arg509Ser					RPH3A_ENST00000420983.2_Missense_Mutation_p.R509S|RPH3A_ENST00000551052.1_Missense_Mutation_p.R505S|RPH3A_ENST00000543106.2_Missense_Mutation_p.R509S|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000447659.2_Missense_Mutation_p.R460S|RPH3A_ENST00000548866.1_Missense_Mutation_p.R460S|RPH3A_ENST00000415485.3_Missense_Mutation_p.R509S	p.R509S	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	17	2024	+			509					B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.1527G>C	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173486	0.38413	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913	T;T;T;T;T;T;T	0.08008	3.14;3.14;3.14;3.14;3.14;3.14;3.14	5.2	2.29	0.28610	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.192719	0.33610	N	0.004722	T	0.04092	0.0114	N	0.08118	0	0.35024	D	0.758155	B;B;B;B	0.14438	0.01;0.001;0.001;0.01	B;B;B;B	0.19946	0.027;0.002;0.002;0.027	T	0.33137	-0.9880	10	0.34782	T	0.22	.	7.4181	0.27057	0.3603:0.0:0.6397:0.0	.	460;509;509;505	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	S	509;509;460;505;509;460;509;161	ENSP00000440384:R509S;ENSP00000374036:R509S;ENSP00000413254:R460S;ENSP00000448297:R505S;ENSP00000405357:R509S;ENSP00000450347:R460S;ENSP00000408889:R509S	ENSP00000374036:R509S	R	+	3	2	RPH3A	111810075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.123000	0.31308	0.547000	0.28938	0.591000	0.81541	AGG		0.502	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		4	182	0	0	0	1	0	4	182				
TRPV1	7442	broad.mit.edu	37	17	3494382	3494382	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:3494382C>T	ENST00000571088.1	-	4	693	c.480G>A	c.(478-480)ctG>ctA	p.L160L	TRPV1_ENST00000399759.3_Silent_p.L160L|TRPV1_ENST00000399756.4_Silent_p.L160L|TRPV1_ENST00000576351.1_Silent_p.L160L|TRPV1_ENST00000174621.6_Silent_p.L158L|SHPK_ENST00000572705.1_Silent_p.L160L|TRPV1_ENST00000425167.2_Silent_p.L160L|TRPV1_ENST00000310522.5_Silent_p.L160L	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	160					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GCATGGCTTTCAGCAGACAGG	0.637																																					Melanoma(38;962 1762 15789)	ENST00000174621.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(472-474)ctG>ctA		transient receptor potential cation channel, subfamily V, member 1	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						74.0	77.0	76.0					17																	3494382		2104	4220	6324	SO:0001819	synonymous_variant	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3494382C>T	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.480G>A	17.37:g.3494382C>T						TRPV1_ENST00000399756.4_Silent_p.L160L|TRPV1_ENST00000576351.1_Silent_p.L160L|SHPK_ENST00000572705.1_Silent_p.L160L|TRPV1_ENST00000425167.2_Silent_p.L160L|TRPV1_ENST00000399759.3_Silent_p.L160L|TRPV1_ENST00000310522.5_Silent_p.L160L|TRPV1_ENST00000571088.1_Silent_p.L160L	p.L158L			Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	3	763	-			160					A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Silent	SNP	ENST00000571088.1	37	c.474G>A	CCDS45576.1																																																																																				0.637	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1	NM_018727		5	16	0	0	0	1	0	5	16				
FCGR2A	2212	broad.mit.edu	37	1	161480678	161480678	+	Missense_Mutation	SNP	C	C	T	rs199502630	byFrequency	TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:161480678C>T	ENST00000271450.6	+	5	712	c.674C>T	c.(673-675)gCg>gTg	p.A225V	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Missense_Mutation_p.A224V	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	225					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTGGTCATTGCGACTGCTGTA	0.502													C|||	2	0.000399361	0.0	0.0	5008	,	,		18965	0.002		0.0	False		,,,				2504	0.0					ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(673-675)gCg>gTg		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						219.0	220.0	220.0					1																	161480678		2203	4300	6503	SO:0001583	missense	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161480678C>T	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.674C>T	1.37:g.161480678C>T	ENSP00000271450:p.Ala225Val					FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Missense_Mutation_p.A224V	p.A225V	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	712	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		225					Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	c.674C>T	CCDS44264.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	.	1.001	-0.690893	0.03303	.	.	ENSG00000143226	ENST00000367972;ENST00000271450	T;T	0.01767	4.65;4.65	2.27	0.296	0.15757	.	41.235800	0.00357	N	0.000031	T	0.00384	0.0012	N	0.08118	0	0.20638	N	0.999879	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.47235	-0.9133	9	0.20046	T	0.44	.	4.6527	0.12603	0.0:0.2484:0.5003:0.2512	.	225;224	P12318;P12318-2	FCG2A_HUMAN;.	V	224;225	ENSP00000356949:A224V;ENSP00000271450:A225V	ENSP00000271450:A225V	A	+	2	0	FCGR2A	159747302	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.043000	0.13971	0.070000	0.16634	-0.228000	0.12330	GCG		0.502	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		67	167	0	0	0	1	0	67	167				
LAMC1	3915	broad.mit.edu	37	1	183083794	183083794	+	Missense_Mutation	SNP	G	G	C	rs374846876		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:183083794G>C	ENST00000258341.4	+	5	1407	c.1150G>C	c.(1150-1152)Gag>Cag	p.E384Q		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	384	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GAGGTGCCGAGAGAACTTCTT	0.512																																						ENST00000258341.4																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						c.(1150-1152)Gag>Cag		laminin, gamma 1 (formerly LAMB2)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						127.0	115.0	119.0					1																	183083794		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183083794G>C	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1150G>C	1.37:g.183083794G>C	ENSP00000258341:p.Glu384Gln						p.E384Q	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN			5	1407	+			384			Laminin EGF-like 2.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.1150G>C	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430686	0.83776	.	.	ENSG00000135862	ENST00000258341	T	0.62498	0.02	5.55	5.55	0.83447	EGF-like, laminin (4);	0.200937	0.51477	D	0.000087	T	0.73969	0.3655	M	0.63843	1.955	0.51012	D	0.999903	P	0.49307	0.922	P	0.54590	0.756	T	0.75673	-0.3236	10	0.66056	D	0.02	.	19.5066	0.95118	0.0:0.0:1.0:0.0	.	384	P11047	LAMC1_HUMAN	Q	384	ENSP00000258341:E384Q	ENSP00000258341:E384Q	E	+	1	0	LAMC1	181350417	1.000000	0.71417	0.992000	0.48379	0.884000	0.51177	4.618000	0.61211	2.612000	0.88384	0.655000	0.94253	GAG		0.512	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		6	116	0	0	0	1	0	6	116				
ADCY4	196883	broad.mit.edu	37	14	24789048	24789048	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:24789048G>A	ENST00000310677.4	-	22	2746	c.2633C>T	c.(2632-2634)tCa>tTa	p.S878L	ADCY4_ENST00000554068.2_Missense_Mutation_p.S878L|ADCY4_ENST00000418030.2_Missense_Mutation_p.S878L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	878					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GTCTGGGACTGAGGCGAAGAG	0.493																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2632-2634)tCa>tTa		adenylate cyclase 4							103.0	90.0	94.0					14																	24789048		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24789048G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2633C>T	14.37:g.24789048G>A	ENSP00000312126:p.Ser878Leu					ADCY4_ENST00000418030.2_Missense_Mutation_p.S878L|ADCY4_ENST00000554068.2_Missense_Mutation_p.S878L	p.S878L	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	22	2746	-			878					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.2633C>T	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831202	0.91036	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.31510	1.49;1.49;1.49	5.24	5.24	0.73138	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.41605	D	0.000856	T	0.67757	0.2927	H	0.95470	3.675	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.77930	-0.2403	10	0.87932	D	0	.	16.3687	0.83346	0.0:0.0:1.0:0.0	.	878	Q8NFM4	ADCY4_HUMAN	L	878	ENSP00000312126:S878L;ENSP00000452250:S878L;ENSP00000393177:S878L	ENSP00000312126:S878L	S	-	2	0	ADCY4	23858888	1.000000	0.71417	0.975000	0.42487	0.949000	0.60115	9.601000	0.98297	2.715000	0.92844	0.655000	0.94253	TCA		0.493	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			6	48	0	0	0	1	0	6	48				
RANBP3	8498	broad.mit.edu	37	19	5914728	5914728	+	IGR	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:5914728G>C	ENST00000340578.6	-	0	3233				AC104532.4_ENST00000591109.1_RNA|CAPS_ENST00000452990.2_Missense_Mutation_p.E80Q|CAPS_ENST00000222125.5_Missense_Mutation_p.E80Q|CAPS_ENST00000588776.1_Missense_Mutation_p.E166Q	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3						intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						GCTGGATCTGGAGGAGTTCCT	0.677																																						ENST00000588776.1																			0				cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	4						c.(496-498)Gag>Cag		calcyphosine							75.0	85.0	82.0					19																	5914728		2203	4300	6503	SO:0001628	intergenic_variant	828				intracellular signal transduction	cytoplasm	calcium ion binding	g.chr19:5914728G>C	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4			19.37:g.5914728G>C						CAPS_ENST00000222125.5_Missense_Mutation_p.E80Q|CAPS_ENST00000452990.2_Missense_Mutation_p.E80Q	p.E166Q			Q13938	CAYP1_HUMAN			3	2863	+			80			EF-hand 4.		B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	c.496G>C	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911382	0.33721	.	.	ENSG00000105519	ENST00000394521;ENST00000222125;ENST00000452990	T;T	0.74106	-0.81;-0.81	4.65	3.6	0.41247	EF-hand-like domain (1);	0.157345	0.41396	D	0.000895	T	0.75436	0.3849	L	0.59912	1.85	0.33821	D	0.629008	P;P	0.35612	0.512;0.468	B;P	0.45913	0.144;0.497	T	0.79955	-0.1585	10	0.39692	T	0.17	-24.4282	10.7215	0.46042	0.0961:0.0:0.9039:0.0	.	213;80	Q8NF12;Q13938	.;CAYP1_HUMAN	Q	213;80;80	ENSP00000222125:E80Q;ENSP00000403263:E80Q	ENSP00000222125:E80Q	E	+	1	0	CAPS	5865728	1.000000	0.71417	1.000000	0.80357	0.272000	0.26649	3.938000	0.56583	0.935000	0.37341	0.491000	0.48974	GAG		0.677	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		4	127	0	0	0	1	0	4	127				
TRRAP	8295	broad.mit.edu	37	7	98563391	98563391	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:98563391G>A	ENST00000359863.4	+	48	7237	c.7028G>A	c.(7027-7029)cGg>cAg	p.R2343Q	TRRAP_ENST00000355540.3_Missense_Mutation_p.R2325Q|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2325Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2343	Interaction with TP53.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATGGAGATGCGGAAGAACTTC	0.527																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(7027-7029)cGg>cAg		transformation/transcription domain-associated protein							117.0	101.0	107.0					7																	98563391		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98563391G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.7028G>A	7.37:g.98563391G>A	ENSP00000352925:p.Arg2343Gln					TRRAP_ENST00000355540.3_Missense_Mutation_p.R2325Q|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2325Q	p.R2343Q	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		48	7237	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		2343			Interaction with TP53.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.7028G>A	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.889430|5.889430	0.97068|0.97068	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.64438	.|-0.1;-0.1	6.02|6.02	6.02|6.02	0.97574|0.97574	.|Armadillo-like helical (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80691|0.80691	0.4671|0.4671	M|M	0.80332|0.80332	2.49|2.49	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.999;0.999	.|D;P;P	.|0.63877	.|0.919;0.797;0.898	T|T	0.81649|0.81649	-0.0837|-0.0837	5|10	.|0.87932	.|D	.|0	.|.	20.5407|20.5407	0.99260|0.99260	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2325;2064;2343	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	R|Q	2065|2343;2325;2324	.|ENSP00000352925:R2343Q;ENSP00000347733:R2325Q	.|ENSP00000347733:R2325Q	G|R	+|+	1|2	0|0	TRRAP|TRRAP	98401327|98401327	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	9.476000|9.476000	0.97823|0.97823	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.527	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		11	50	0	0	0	1	0	11	50				
HSPB8	26353	broad.mit.edu	37	12	119617124	119617124	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:119617124G>A	ENST00000281938.2	+	1	678	c.7G>A	c.(7-9)Gac>Aac	p.D3N	RP11-64B16.3_ENST00000538405.1_RNA|RP11-64B16.4_ENST00000535921.1_RNA	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	3					cell death (GO:0008219)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACCATGGCTGACGGTCAGAT	0.607																																						ENST00000281938.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14						c.(7-9)Gac>Aac		heat shock 22kDa protein 8							47.0	57.0	54.0					12																	119617124		2203	4300	6503	SO:0001583	missense	26353				cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity	g.chr12:119617124G>A	AF191017	CCDS9189.1	12q24.23	2014-09-17	2004-04-23					"""Heat shock proteins / HSPB"""	30171	protein-coding gene	gene with protein product		608014	"""heat shock 27kDa protein 8"""			10833516, 11085516	Standard	NM_014365		Approved	H11, E2IG1, HSP22, HspB8	uc001txb.3	Q9UJY1		ENST00000281938.2:c.7G>A	12.37:g.119617124G>A	ENSP00000281938:p.Asp3Asn						p.D3N	NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN			1	678	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		3					B2R6A6|Q6FIH3|Q9UKS3	Missense_Mutation	SNP	ENST00000281938.2	37	c.7G>A	CCDS9189.1	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921428	0.73213	.	.	ENSG00000152137	ENST00000281938	D	0.87650	-2.28	4.42	4.42	0.53409	.	0.229124	0.33895	N	0.004451	D	0.83358	0.5237	L	0.43152	1.355	0.54753	D	0.999987	P	0.40970	0.734	B	0.39617	0.305	T	0.83017	-0.0169	9	.	.	.	.	17.2157	0.86943	0.0:0.0:1.0:0.0	.	3	Q9UJY1	HSPB8_HUMAN	N	3	ENSP00000281938:D3N	.	D	+	1	0	HSPB8	118101507	1.000000	0.71417	0.918000	0.36340	0.324000	0.28378	7.240000	0.78192	2.294000	0.77228	0.563000	0.77884	GAC		0.607	HSPB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401647.1	NM_014365		7	137	0	0	0	1	0	7	137				
NPC1L1	29881	broad.mit.edu	37	7	44571799	44571799	+	Silent	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:44571799G>A	ENST00000289547.4	-	9	2482	c.2427C>T	c.(2425-2427)gtC>gtT	p.V809V	NPC1L1_ENST00000546276.1_Silent_p.V809V|NPC1L1_ENST00000381160.3_Silent_p.V809V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	809					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CACAGCAGCAGACGTCCAACC	0.652																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(2425-2427)gtC>gtT		NPC1-like 1	Ezetimibe(DB00973)						50.0	57.0	55.0					7																	44571799		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44571799G>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.2427C>T	7.37:g.44571799G>A						NPC1L1_ENST00000381160.3_Silent_p.V809V|NPC1L1_ENST00000546276.1_Silent_p.V809V	p.V809V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			9	2482	-			809					A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.2427C>T	CCDS5491.1																																																																																				0.652	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		30	89	0	0	0	1	0	30	89				
MAZ	4150	broad.mit.edu	37	16	29818686	29818686	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr16:29818686C>G	ENST00000322945.6	+	2	745	c.580C>G	c.(580-582)Ctg>Gtg	p.L194V	MAZ_ENST00000569978.1_5'Flank|AC009133.15_ENST00000566537.1_RNA|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000545521.1_Missense_Mutation_p.L171V|MAZ_ENST00000219782.6_Missense_Mutation_p.L194V|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000568544.1_5'Flank|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000566906.2_Intron|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000568282.1_5'Flank	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	194					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CATCTGCGCTCTGTGCGCCAA	0.647																																					Colon(72;875 1167 15364 30899 37091)	ENST00000219782.6																			0				endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(580-582)Ctg>Gtg		MYC-associated zinc finger protein (purine-binding transcription factor)							22.0	27.0	25.0					16																	29818686		1981	4143	6124	SO:0001583	missense	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29818686C>G	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.580C>G	16.37:g.29818686C>G	ENSP00000313362:p.Leu194Val					MAZ_ENST00000322945.6_Missense_Mutation_p.L194V|MAZ_ENST00000566906.2_Intron|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000545521.1_Missense_Mutation_p.L171V|MAZ_ENST00000563402.1_Intron	p.L194V	NM_001042539.1	NP_001036004.1	P56270	MAZ_HUMAN			2	686	+			194					A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	ENST00000322945.6	37	c.580C>G	CCDS42143.1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717336	0.30413	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000219782	T;T;T	0.77750	-1.12;-1.12;0.77	3.15	1.01	0.19927	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.651463	0.13602	U	0.375784	T	0.64681	0.2620	N	0.11698	0.16	0.80722	D	1	P;B;P	0.38978	0.652;0.444;0.6	B;P;B	0.46026	0.258;0.501;0.168	T	0.58120	-0.7692	10	0.56958	D	0.05	-4.9785	6.1106	0.20097	0.0:0.6282:0.0:0.3718	.	171;194;194	C6G496;P56270;G5E927	.;MAZ_HUMAN;.	V	171;194;194	ENSP00000443956:L171V;ENSP00000313362:L194V;ENSP00000219782:L194V	ENSP00000219782:L194V	L	+	1	2	MAZ	29726187	0.000000	0.05858	0.919000	0.36401	0.759000	0.43091	-0.192000	0.09587	0.023000	0.15187	0.281000	0.19383	CTG		0.647	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		10	19	0	0	0	1	0	10	19				
ITPR2	3709	broad.mit.edu	37	12	26493171	26493171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:26493171G>A	ENST00000381340.3	-	56	8364	c.7948C>T	c.(7948-7950)Cag>Tag	p.Q2650*	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2650					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AACTTCTCCTGAAGGCTCCGA	0.532																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(7948-7950)Cag>Tag		inositol 1,4,5-trisphosphate receptor, type 2							69.0	69.0	69.0					12																	26493171		2003	4219	6222	SO:0001587	stop_gained	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26493171G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7948C>T	12.37:g.26493171G>A	ENSP00000370744:p.Gln2650*					RP11-513G19.1_ENST00000535324.1_RNA	p.Q2650*	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			56	8364	-	Colorectal(261;0.0847)		2650					O94773	Nonsense_Mutation	SNP	ENST00000381340.3	37	c.7948C>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	52	19.339774	0.99918	.	.	ENSG00000123104	ENST00000381340	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	19.9662	0.97271	0.0:0.0:1.0:0.0	.	.	.	.	X	2650	.	ENSP00000370744:Q2650X	Q	-	1	0	ITPR2	26384438	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.714000	0.98744	2.793000	0.96121	0.655000	0.94253	CAG		0.532	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		12	68	0	0	0	1	0	12	68				
EGLN1	54583	broad.mit.edu	37	1	231557041	231557041	+	Silent	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:231557041G>A	ENST00000366641.3	-	1	3749	c.594C>T	c.(592-594)atC>atT	p.I198I	EGLN1_ENST00000476717.1_5'Flank	NM_022051.2	NP_071334.1			egl-9 family hypoxia-inducible factor 1											breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)				TGCACGGCACGATGTACTCGA	0.687																																						ENST00000366641.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(592-594)atC>atT		egl-9 family hypoxia-inducible factor 1	Vitamin C(DB00126)						23.0	22.0	22.0					1																	231557041		2200	4293	6493	SO:0001819	synonymous_variant	54583				negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding	g.chr1:231557041G>A	AJ310543	CCDS1595.1	1q42.1	2013-08-21	2013-08-21	2001-08-24	ENSG00000135766	ENSG00000135766		"""Zinc fingers, MYND-type"""	1232	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 2"""	606425	"""EGL nine (C.elegans) homolog 1"", ""egl nine homolog 1 (C. elegans)"""	C1orf12		11056053	Standard	NM_022051		Approved	SM-20, PHD2, ZMYND6, HIFPH2	uc001huv.2	Q9GZT9	OTTHUMG00000038027	ENST00000366641.3:c.594C>T	1.37:g.231557041G>A							p.I198I	NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN			1	3749	-		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)	198						Silent	SNP	ENST00000366641.3	37	c.594C>T	CCDS1595.1																																																																																				0.687	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092879.1	NM_022051		12	21	0	0	0	1	0	12	21				
ITPA	3704	broad.mit.edu	37	20	3199199	3199199	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr20:3199199C>T	ENST00000380113.3	+	6	524	c.332C>T	c.(331-333)tCa>tTa	p.S111L	ITPA_ENST00000455664.2_Missense_Mutation_p.S94L|ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000399838.3_Missense_Mutation_p.S70L	NM_033453.3|NM_181493.2	NP_258412.1|NP_852470.1			inosine triphosphatase (nucleoside triphosphate pyrophosphatase)											autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						GAGGACAAGTCAGCCTATGCG	0.652											OREG0025730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000380113.3																			0				autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1)	6						c.(331-333)tCa>tTa		inosine triphosphatase (nucleoside triphosphate pyrophosphatase)							54.0	45.0	48.0					20																	3199199		2203	4300	6503	SO:0001583	missense	3704				nucleotide metabolic process	cytoplasm	metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding	g.chr20:3199199C>T	AF026816	CCDS13051.1, CCDS46576.1, CCDS58762.1	20p	2002-02-01			ENSG00000125877	ENSG00000125877	3.6.1.19		6176	protein-coding gene	gene with protein product		147520		C20orf37		11278832	Standard	NM_033453		Approved	HLC14-06-P, dJ794I6.3	uc002wid.4	Q9BY32	OTTHUMG00000031738	ENST00000380113.3:c.332C>T	20.37:g.3199199C>T	ENSP00000369456:p.Ser111Leu		OREG0025730	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	609	ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000455664.1_Missense_Mutation_p.S94L|ITPA_ENST00000399838.3_Missense_Mutation_p.S70L	p.S111L	NM_033453.3	NP_258412.1	Q9BY32	ITPA_HUMAN			6	524	+			111						Missense_Mutation	SNP	ENST00000380113.3	37	c.332C>T	CCDS13051.1	.	.	.	.	.	.	.	.	.	.	C	35	5.540878	0.96474	.	.	ENSG00000125877	ENST00000380113;ENST00000455664;ENST00000399838	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.86049	0.5840	M	0.93720	3.45	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.79784	0.993;0.95	D	0.88680	0.3201	9	0.62326	D	0.03	.	15.5468	0.76108	0.0:1.0:0.0:0.0	.	94;111	B2BCH7;Q9BY32	.;ITPA_HUMAN	L	111;94;70	.	ENSP00000369456:S111L	S	+	2	0	ITPA	3147199	1.000000	0.71417	0.976000	0.42696	0.926000	0.56050	6.155000	0.71833	2.749000	0.94314	0.655000	0.94253	TCA		0.652	ITPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077719.2			9	60	0	0	0	1	0	9	60				
FARP1	10160	broad.mit.edu	37	13	99037976	99037976	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr13:99037976G>T	ENST00000319562.6	+	8	932	c.667G>T	c.(667-669)Gag>Tag	p.E223*	FARP1_ENST00000595437.1_Nonsense_Mutation_p.E223*|FARP1_ENST00000376586.2_Nonsense_Mutation_p.E223*	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	223	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCGTCGGCTAGAGATGTATGG	0.488																																						ENST00000376586.2																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(667-669)Gag>Tag		FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)							100.0	96.0	98.0					13																	99037976		2203	4300	6503	SO:0001587	stop_gained	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99037976G>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.667G>T	13.37:g.99037976G>T	ENSP00000322926:p.Glu223*					FARP1_ENST00000319562.6_Nonsense_Mutation_p.E223*|FARP1_ENST00000595437.1_Nonsense_Mutation_p.E223*	p.E223*			Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		8	1003	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		223			FERM.		Q5JVI9|Q6IQ29	Nonsense_Mutation	SNP	ENST00000319562.6	37	c.667G>T	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	40	8.085944	0.98646	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	.	.	.	5.85	5.85	0.93711	.	0.048702	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.1634	0.98142	0.0:0.0:1.0:0.0	.	.	.	.	X	223	.	ENSP00000322926:E223X	E	+	1	0	FARP1	97835977	1.000000	0.71417	0.994000	0.49952	0.956000	0.61745	9.869000	0.99810	2.773000	0.95371	0.655000	0.94253	GAG		0.488	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		19	91	1	0	1.2644e-06	1	1.29842e-06	19	91				
CSF1R	1436	broad.mit.edu	37	5	149439334	149439334	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr5:149439334C>T	ENST00000286301.3	-	15	2352	c.2061G>A	c.(2059-2061)ctG>ctA	p.L687L	CSF1R_ENST00000515239.1_5'Flank	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	687	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGCCGGGGCTCAGGCTGGGTC	0.577																																						ENST00000286301.3																			0				NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93						c.(2059-2061)ctG>ctA		colony stimulating factor 1 receptor	Imatinib(DB00619)|Sunitinib(DB01268)						64.0	67.0	66.0					5																	149439334		2203	4300	6503	SO:0001819	synonymous_variant	1436				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity	g.chr5:149439334C>T	U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.2061G>A	5.37:g.149439334C>T							p.L687L	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		15	2352	-			687			Protein kinase.		B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Silent	SNP	ENST00000286301.3	37	c.2061G>A	CCDS4302.1																																																																																				0.577	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252329.2	NM_005211		7	95	0	0	0	1	0	7	95				
SIM2	6493	broad.mit.edu	37	21	38114091	38114091	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr21:38114091G>C	ENST00000290399.6	+	8	1537	c.924G>C	c.(922-924)caG>caC	p.Q308H	SIM2_ENST00000430056.3_Missense_Mutation_p.Q308H	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	308	PAC.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TGTGGGTGCAGAGCTACGCCA	0.582																																						ENST00000290399.6																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						c.(922-924)caG>caC		single-minded family bHLH transcription factor 2							59.0	44.0	49.0					21																	38114091		2202	4300	6502	SO:0001583	missense	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38114091G>C		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.924G>C	21.37:g.38114091G>C	ENSP00000290399:p.Gln308His					SIM2_ENST00000430056.3_Missense_Mutation_p.Q308H	p.Q308H	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN			8	1537	+			308			PAC.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Missense_Mutation	SNP	ENST00000290399.6	37	c.924G>C	CCDS13646.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.88|17.88	3.496238|3.496238	0.64186|0.64186	.|.	.|.	ENSG00000159263|ENSG00000159263	ENST00000431229|ENST00000290399;ENST00000430056	.|T;T	.|0.17370	.|2.28;2.28	5.15|5.15	5.15|5.15	0.70609|0.70609	.|PAS fold-3 (1);	.|0.055807	.|0.64402	.|D	.|0.000001	T|T	0.35278|0.35278	0.0926|0.0926	M|M	0.90145|0.90145	3.09|3.09	0.52099|0.52099	D|D	0.999946|0.999946	.|B;B	.|0.32101	.|0.356;0.089	.|B;B	.|0.35688	.|0.208;0.093	T|T	0.44236|0.44236	-0.9341|-0.9341	5|10	.|0.87932	.|D	.|0	.|.	18.6253|18.6253	0.91334|0.91334	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|308;308	.|Q14190;Q14190-2	.|SIM2_HUMAN;.	Q|H	246|308	.|ENSP00000290399:Q308H;ENSP00000404176:Q308H	.|ENSP00000290399:Q308H	E|Q	+|+	1|3	0|2	SIM2|SIM2	37035961|37035961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.130000|6.130000	0.71663|0.71663	2.369000|2.369000	0.80426|0.80426	0.655000|0.655000	0.94253|0.94253	GAG|CAG		0.582	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		6	14	0	0	0	1	0	6	14				
KRT14	3861	broad.mit.edu	37	17	39739910	39739910	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:39739910C>T	ENST00000167586.6	-	5	1032	c.946G>A	c.(946-948)Gag>Aag	p.E316K		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	316	Coil 2.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				GTGGCCACCTCGCGGTTCAGC	0.587																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(946-948)Gag>Aag		keratin 14							101.0	101.0	101.0					17																	39739910		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39739910C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.946G>A	17.37:g.39739910C>T	ENSP00000167586:p.Glu316Lys						p.E316K	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			5	1032	-		Breast(137;0.000307)	316			Coil 2.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.946G>A	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.512409	0.85389	.	.	ENSG00000186847	ENST00000167586	D	0.87571	-2.27	5.11	5.11	0.69529	Prefoldin (1);Filament (1);	0.000000	0.53938	D	0.000047	D	0.91938	0.7447	M	0.79614	2.46	0.53005	D	0.999964	D	0.60160	0.987	P	0.62184	0.899	D	0.92577	0.6071	10	0.87932	D	0	.	12.2885	0.54805	0.0:0.9221:0.0:0.0779	.	316	P02533	K1C14_HUMAN	K	316	ENSP00000167586:E316K	ENSP00000167586:E316K	E	-	1	0	KRT14	36993436	0.071000	0.21146	1.000000	0.80357	0.942000	0.58702	1.223000	0.32527	2.523000	0.85059	0.655000	0.94253	GAG		0.587	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		24	177	0	0	0	1	0	24	177				
KRT14	3861	broad.mit.edu	37	17	39740126	39740126	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:39740126C>T	ENST00000167586.6	-	4	899	c.813G>A	c.(811-813)gaG>gaA	p.E271E		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	271	Linker 12.|Rod.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CAGCGTCCATCTCCACATTGA	0.572																																						ENST00000167586.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25						c.(811-813)gaG>gaA		keratin 14							141.0	117.0	125.0					17																	39740126		2203	4300	6503	SO:0001819	synonymous_variant	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39740126C>T	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.813G>A	17.37:g.39740126C>T							p.E271E	NM_000526.4	NP_000517.2	P02533	K1C14_HUMAN			4	899	-		Breast(137;0.000307)	271			Linker 12.|Rod.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Silent	SNP	ENST00000167586.6	37	c.813G>A	CCDS11400.1																																																																																				0.572	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		20	136	0	0	0	1	0	20	136				
SOCS6	9306	broad.mit.edu	37	18	67992445	67992445	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:67992445G>C	ENST00000397942.3	+	2	857	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	SOCS6_ENST00000582322.1_Missense_Mutation_p.E181Q	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	181					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CCTCCAGTCTGAGACCACGTG	0.542																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(541-543)Gag>Cag		suppressor of cytokine signaling 6							76.0	66.0	70.0					18																	67992445		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992445G>C	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.541G>C	18.37:g.67992445G>C	ENSP00000381034:p.Glu181Gln					SOCS6_ENST00000582322.1_Missense_Mutation_p.E181Q	p.E181Q	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN			2	857	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	181					Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.541G>C	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.548796	0.45383	.	.	ENSG00000170677	ENST00000397942	T	0.25912	1.77	5.12	5.12	0.69794	.	1.451420	0.05080	N	0.483261	T	0.30759	0.0775	L	0.38175	1.15	0.43107	D	0.9948	B	0.21606	0.058	B	0.18561	0.022	T	0.08617	-1.0713	10	0.72032	D	0.01	-2.6211	18.5771	0.91159	0.0:0.0:1.0:0.0	.	181	O14544	SOCS6_HUMAN	Q	181	ENSP00000381034:E181Q	ENSP00000381034:E181Q	E	+	1	0	SOCS6	66143425	1.000000	0.71417	0.013000	0.15412	0.002000	0.02628	7.167000	0.77562	2.371000	0.80710	0.561000	0.74099	GAG		0.542	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			22	65	0	0	0	1	0	22	65				
STEAP4	79689	broad.mit.edu	37	7	87908879	87908879	+	Missense_Mutation	SNP	C	C	G	rs546856958		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:87908879C>G	ENST00000380079.4	-	5	1315	c.1214G>C	c.(1213-1215)aGa>aCa	p.R405T	AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.R229T|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000594469.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	405					copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					GCTGAGGAATCTCTTCCCACC	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19977	0.0		0.0	False		,,,				2504	0.0					ENST00000380079.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15						c.(1213-1215)aGa>aCa		STEAP family member 4							103.0	110.0	108.0					7																	87908879		1970	4142	6112	SO:0001583	missense	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87908879C>G	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.1214G>C	7.37:g.87908879C>G	ENSP00000369419:p.Arg405Thr					AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.R229T|AC003991.3_ENST00000600908.1_RNA	p.R405T	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN			5	1315	-	Esophageal squamous(14;0.00802)		405					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Missense_Mutation	SNP	ENST00000380079.4	37	c.1214G>C	CCDS43611.1	.	.	.	.	.	.	.	.	.	.	C	4.166	0.029362	0.08054	.	.	ENSG00000127954	ENST00000380079;ENST00000301959	T;T	0.12039	3.23;2.72	5.8	0.947	0.19555	.	0.212975	0.35555	U	0.003130	T	0.18341	0.0440	M	0.80746	2.51	0.09310	N	1	P;B	0.37663	0.604;0.072	B;B	0.39217	0.294;0.036	T	0.11036	-1.0604	10	0.30078	T	0.28	-5.3207	10.6863	0.45846	0.0:0.681:0.0:0.319	.	229;405	Q687X5-2;Q687X5	.;STEA4_HUMAN	T	405;229	ENSP00000369419:R405T;ENSP00000305545:R229T	ENSP00000305545:R229T	R	-	2	0	STEAP4	87746815	0.000000	0.05858	0.518000	0.27811	0.179000	0.23085	-2.088000	0.01359	0.109000	0.17891	-0.812000	0.03155	AGA		0.433	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	NM_024636		6	28	0	0	0	1	0	6	28				
PFKL	5211	broad.mit.edu	37	21	45732997	45732997	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr21:45732997C>T	ENST00000349048.4	+	5	619	c.564C>T	c.(562-564)gtC>gtT	p.V188V	PFKL_ENST00000403390.1_Silent_p.V235V|PFKL_ENST00000496824.1_3'UTR	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	188	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		TCATGGAGGTCATCGATGCCA	0.667																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(703-705)gtC>gtT		phosphofructokinase, liver							118.0	92.0	101.0					21																	45732997		2203	4300	6503	SO:0001819	synonymous_variant	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45732997C>T		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.564C>T	21.37:g.45732997C>T						PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Silent_p.V188V	p.V235V			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	6	705	+			188					Q96A64|Q96IH4|Q9BR91	Silent	SNP	ENST00000349048.4	37	c.705C>T	CCDS33582.1																																																																																				0.667	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			22	104	0	0	0	1	0	22	104				
SYT14	255928	broad.mit.edu	37	1	210267850	210267850	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:210267850G>A	ENST00000472886.1	+	5	640	c.626G>A	c.(625-627)gGa>gAa	p.G209E	SYT14_ENST00000422431.1_Missense_Mutation_p.G254E|SYT14_ENST00000367015.1_Missense_Mutation_p.G171E|SYT14_ENST00000537238.1_Missense_Mutation_p.G171E|SYT14_ENST00000534859.1_Missense_Mutation_p.G209E|SYT14_ENST00000399639.2_Missense_Mutation_p.G209E|SYT14_ENST00000367019.1_Missense_Mutation_p.G209E|SYT14_ENST00000271745.7_3'UTR			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	209					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		CCAAGTGAAGGAAGCACAGGT	0.418																																						ENST00000537238.1																			0				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37						c.(511-513)gGa>gAa		synaptotagmin XIV							104.0	99.0	100.0					1																	210267850		2203	4300	6503	SO:0001583	missense	255928					integral to membrane		g.chr1:210267850G>A	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.626G>A	1.37:g.210267850G>A	ENSP00000418901:p.Gly209Glu					SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Missense_Mutation_p.G209E|SYT14_ENST00000367015.1_Missense_Mutation_p.G171E|SYT14_ENST00000399639.2_Missense_Mutation_p.G209E|SYT14_ENST00000422431.1_Missense_Mutation_p.G254E|SYT14_ENST00000472886.1_Missense_Mutation_p.G209E|SYT14_ENST00000534859.1_Missense_Mutation_p.G209E	p.G171E	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	6	903	+			209					B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Missense_Mutation	SNP	ENST00000472886.1	37	c.512G>A	CCDS31014.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458025	0.43634	.	.	ENSG00000143469	ENST00000422431;ENST00000534859;ENST00000399639;ENST00000537238;ENST00000367019;ENST00000472886;ENST00000367015	T;T;T;T;T;T;T	0.19394	3.38;3.24;2.15;3.51;3.26;3.52;3.51	5.62	5.62	0.85841	.	0.205916	0.40385	N	0.001112	T	0.25644	0.0624	L	0.61218	1.895	0.47183	D	0.999347	B;B;B;B	0.16802	0.004;0.001;0.019;0.019	B;B;B;B	0.17098	0.005;0.002;0.017;0.016	T	0.04103	-1.0977	10	0.21014	T	0.42	-18.8622	17.813	0.88622	0.0:0.0:1.0:0.0	.	237;209;209;254	A1L3Y1;Q8NB59;Q8NB59-6;F5H426	.;SYT14_HUMAN;.;.	E	254;209;209;171;209;209;171	ENSP00000389039:G254E;ENSP00000442891:G209E;ENSP00000445837:G209E;ENSP00000437423:G171E;ENSP00000355986:G209E;ENSP00000418901:G209E;ENSP00000355982:G171E	ENSP00000355982:G171E	G	+	2	0	SYT14	208334473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.077000	0.57598	2.650000	0.89964	0.591000	0.81541	GGA		0.418	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262		4	61	0	0	0	1	0	4	61				
BFSP2	8419	broad.mit.edu	37	3	133193815	133193815	+	Nonstop_Mutation	SNP	G	G	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:133193815G>T	ENST00000302334.2	+	7	1336	c.1247G>T	c.(1246-1248)tGa>tTa	p.*416L		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	0					cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CCTTTCAGCTGATGGAGAAAC	0.458																																						ENST00000302334.2																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						c.(1246-1248)tGa>tTa		beaded filament structural protein 2, phakinin							155.0	145.0	148.0					3																	133193815		2203	4300	6503	SO:0001578	stop_lost	8419				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr3:133193815G>T	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.1247G>T	3.37:g.133193815G>T	ENSP00000304987:p.*416Leuext*17						p.*416L	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN			7	1336	+			0					Q14D32|Q9HBW5	Nonstop_Mutation	SNP	ENST00000302334.2	37	c.1247G>T	CCDS33859.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384078	0.42308	.	.	ENSG00000170819	ENST00000302334	.	.	.	5.11	1.61	0.23674	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4446	0.21869	0.5325:0.0:0.4675:0.0	.	.	.	.	L	416	.	.	X	+	2	2	BFSP2	134676505	0.782000	0.28689	0.925000	0.36789	0.994000	0.84299	0.332000	0.19751	0.411000	0.25702	0.650000	0.86243	TGA		0.458	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357031.1			13	108	1	0	0.0135373	1	0.0135967	13	108				
GCKR	2646	broad.mit.edu	37	2	27730628	27730628	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr2:27730628C>G	ENST00000264717.2	+	14	1287	c.1224C>G	c.(1222-1224)ttC>ttG	p.F408L	GCKR_ENST00000424318.2_Missense_Mutation_p.F218L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	408	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					CTGTGGTCTTCATTTTCACCC	0.537																																						ENST00000264717.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29						c.(1222-1224)ttC>ttG		glucokinase (hexokinase 4) regulator							77.0	72.0	74.0					2																	27730628		2203	4300	6503	SO:0001583	missense	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27730628C>G	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1224C>G	2.37:g.27730628C>G	ENSP00000264717:p.Phe408Leu					GCKR_ENST00000424318.2_Missense_Mutation_p.F218L	p.F408L	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN			14	1287	+	Acute lymphoblastic leukemia(172;0.155)		408			SIS 2.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	ENST00000264717.2	37	c.1224C>G	CCDS1757.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.481|9.481	1.098121|1.098121	0.20552|0.20552	.|.	.|.	ENSG00000084734|ENSG00000084734	ENST00000264717;ENST00000424318|ENST00000411584	T;T|.	0.81163|.	-1.46;-1.46|.	4.52|4.52	4.52|4.52	0.55395|0.55395	Sugar isomerase (SIS) (1);|.	0.069224|.	0.64402|.	D|.	0.000014|.	T|.	0.49457|.	0.1558|.	N|N	0.21097|0.21097	0.63|0.63	0.41190|0.41190	D|D	0.986291|0.986291	B;B;B|.	0.20988|.	0.05;0.005;0.005|.	B;B;B|.	0.22753|.	0.041;0.007;0.007|.	T|.	0.44112|.	-0.9349|.	10|.	0.25751|.	T|.	0.34|.	-15.3989|-15.3989	12.6251|12.6251	0.56626|0.56626	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	218;406;408|.	F5H1P6;A8K731;Q14397|.	.;.;GCKR_HUMAN|.	L|X	408;218|109	ENSP00000264717:F408L;ENSP00000409109:F218L|.	ENSP00000264717:F408L|.	F|S	+|+	3|2	2|0	GCKR|GCKR	27584132|27584132	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.832000|0.832000	0.47134|0.47134	0.901000|0.901000	0.28445|0.28445	2.315000|2.315000	0.78130|0.78130	0.655000|0.655000	0.94253|0.94253	TTC|TCA		0.537	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		8	46	0	0	0	1	0	8	46				
RALGDS	5900	broad.mit.edu	37	9	135985758	135985758	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr9:135985758G>C	ENST00000372050.3	-	3	434	c.413C>G	c.(412-414)tCc>tGc	p.S138C	RALGDS_ENST00000393160.3_Missense_Mutation_p.S83C|RALGDS_ENST00000372047.3_Missense_Mutation_p.S138C|RALGDS_ENST00000542690.1_Missense_Mutation_p.S209C|RALGDS_ENST00000469972.1_5'Flank|RALGDS_ENST00000372062.3_Missense_Mutation_p.S121C|RALGDS_ENST00000393157.3_Missense_Mutation_p.S137C	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	138	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGTGACGTAGGAGAGGTCGCT	0.577			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(247-249)tCc>tGc		ral guanine nucleotide dissociation stimulator							116.0	99.0	105.0					9																	135985758		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135985758G>C	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.413C>G	9.37:g.135985758G>C	ENSP00000361120:p.Ser138Cys					RALGDS_ENST00000372047.3_Missense_Mutation_p.S138C|RALGDS_ENST00000372062.3_Missense_Mutation_p.S121C|RALGDS_ENST00000542690.1_Missense_Mutation_p.S209C|RALGDS_ENST00000372050.3_Missense_Mutation_p.S138C|RALGDS_ENST00000393157.3_Missense_Mutation_p.S137C	p.S83C	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	3	601	-			138					B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.248C>G	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078166	0.55753	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66	5.88	3.99	0.46301	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.304694	0.28365	N	0.015602	T	0.64283	0.2584	M	0.63843	1.955	0.35835	D	0.825627	D;D;D;D;D;D	0.76494	0.999;0.997;0.997;0.997;0.997;0.997	D;P;P;P;P;P	0.83275	0.996;0.87;0.87;0.87;0.87;0.87	T	0.72903	-0.4151	10	0.87932	D	0	.	12.1561	0.54077	0.0:0.1306:0.7334:0.136	.	209;121;83;137;138;138	F5H6M6;E7ER93;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;GNDS_HUMAN	C	138;138;83;137;209;121	ENSP00000361120:S138C;ENSP00000361117:S138C;ENSP00000376867:S83C;ENSP00000376864:S137C;ENSP00000437518:S209C;ENSP00000361132:S121C	ENSP00000361117:S138C	S	-	2	0	RALGDS	134975579	1.000000	0.71417	0.812000	0.32479	0.996000	0.88848	6.700000	0.74619	0.777000	0.33496	0.655000	0.94253	TCC		0.577	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		6	42	0	0	0	1	0	6	42				
AFF1	4299	broad.mit.edu	37	4	87968606	87968606	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr4:87968606C>T	ENST00000307808.6	+	3	1318	c.898C>T	c.(898-900)Caa>Taa	p.Q300*	AFF1_ENST00000395146.4_Nonsense_Mutation_p.Q307*|AFF1_ENST00000544085.1_Intron	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	300					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CATGGATGGTCAAGATCAGGC	0.542																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(898-900)Caa>Taa		AF4/FMR2 family, member 1							91.0	99.0	96.0					4																	87968606		2203	4300	6503	SO:0001587	stop_gained	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:87968606C>T	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.898C>T	4.37:g.87968606C>T	ENSP00000305689:p.Gln300*					AFF1_ENST00000395146.4_Nonsense_Mutation_p.Q307*|AFF1_ENST00000544085.1_Intron	p.Q300*	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	3	1318	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	300					B4DTU1|E9PBM3	Nonsense_Mutation	SNP	ENST00000307808.6	37	c.898C>T	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	37	6.216725	0.97385	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000507468;ENST00000503477;ENST00000307808	.	.	.	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-20.9678	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	307;307;307;307;300	.	ENSP00000305689:Q300X	Q	+	1	0	AFF1	88187630	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	7.408000	0.80041	2.894000	0.99253	0.655000	0.94253	CAA		0.542	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		29	180	0	0	0	1	0	29	180				
RBM5	10181	broad.mit.edu	37	3	50142523	50142523	+	Silent	SNP	A	A	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:50142523A>G	ENST00000347869.3	+	9	817	c.642A>G	c.(640-642)gaA>gaG	p.E214E		NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	214					apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTGAACAGGAAGTGCCTCCTG	0.368																																						ENST00000347869.3																			0				breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19						c.(640-642)gaA>gaG		RNA binding motif protein 5							113.0	105.0	108.0					3																	50142523		2203	4300	6503	SO:0001819	synonymous_variant	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50142523A>G	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.642A>G	3.37:g.50142523A>G							p.E214E	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	9	817	+			214					B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Silent	SNP	ENST00000347869.3	37	c.642A>G	CCDS2810.1																																																																																				0.368	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3	NM_005778		3	19	0	0	0	1	0	3	19				
NRD1	4898	broad.mit.edu	37	1	52260496	52260496	+	Splice_Site	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:52260496C>T	ENST00000354831.7	-	25	3028	c.2839G>A	c.(2839-2841)Gac>Aac	p.D947N	NRD1_ENST00000539524.1_Splice_Site_p.D815N|NRD1_ENST00000352171.7_Splice_Site_p.D879N|NRD1_ENST00000485608.1_5'UTR|RP4-657D16.3_ENST00000588291.1_RNA|RP4-657D16.3_ENST00000591675.1_RNA|NRD1_ENST00000544028.1_3'UTR|RP4-657D16.3_ENST00000586761.1_RNA	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	878					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AATACTTACTCAACAACATAT	0.358																																						ENST00000354831.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						c.e25+1		nardilysin (N-arginine dibasic convertase)							86.0	89.0	88.0					1																	52260496		2203	4300	6503	SO:0001630	splice_region_variant	4898				cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding	g.chr1:52260496C>T	X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.2840+1G>A	1.37:g.52260496C>T						NRD1_ENST00000544028.1_3'UTR|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Splice_Site_p.D879_splice|RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000539524.1_Splice_Site_p.D815_splice|RP4-657D16.3_ENST00000586761.1_RNA	p.D947_splice	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN			25	3028	-			878					A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Splice_Site	SNP	ENST00000354831.7	37	c.2840_splice	CCDS559.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.897273	0.52121	.	.	ENSG00000078618	ENST00000352171;ENST00000354831;ENST00000539524;ENST00000371665;ENST00000546169	T;T;T	0.07908	3.15;3.15;3.15	5.65	5.65	0.86999	Peptidase M16, C-terminal (1);Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.322088	0.36893	N	0.002360	T	0.07863	0.0197	L	0.39514	1.22	0.80722	D	1	B;B;B	0.25206	0.037;0.046;0.12	B;B;B	0.24006	0.017;0.029;0.05	T	0.24764	-1.0151	10	0.28530	T	0.3	-15.7938	9.8378	0.40980	0.0:0.7737:0.1515:0.0748	.	879;878;947	F5H6R2;O43847;B1AKJ5	.;NRDC_HUMAN;.	N	879;947;815;309;879	ENSP00000262679:D879N;ENSP00000346890:D947N;ENSP00000444416:D815N	ENSP00000262679:D879N	D	-	1	0	NRD1	52033084	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.669000	0.37492	2.941000	0.99782	0.655000	0.94253	GAC		0.358	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023045.1	NM_002525	Missense_Mutation	13	58	0	0	0	1	0	13	58				
PRPF40B	25766	broad.mit.edu	37	12	50030561	50030561	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:50030561G>C	ENST00000380281.1	+	15	1487	c.1423G>C	c.(1423-1425)Gag>Cag	p.E475Q	PRPF40B_ENST00000548825.2_Missense_Mutation_p.E497Q|PRPF40B_ENST00000261897.1_Missense_Mutation_p.E469Q|FMNL3_ENST00000550668.1_5'Flank			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	475					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGAGAGGGAAGAGGAGGAGGA	0.567											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000261897.1																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(1405-1407)Gag>Cag		PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)							118.0	115.0	116.0					12																	50030561		2203	4300	6503	SO:0001583	missense	25766				mRNA processing|RNA splicing	nuclear speck		g.chr12:50030561G>C	AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.1423G>C	12.37:g.50030561G>C	ENSP00000369634:p.Glu475Gln		OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	966	PRPF40B_ENST00000380281.1_Missense_Mutation_p.E475Q|PRPF40B_ENST00000548825.2_Missense_Mutation_p.E497Q	p.E469Q			Q6NWY9	PR40B_HUMAN			15	1956	+			475					O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	ENST00000380281.1	37	c.1405G>C		.	.	.	.	.	.	.	.	.	.	G	29.7	5.025684	0.93518	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.26810	1.72;1.71	5.03	5.03	0.67393	FF domain (1);	0.000000	0.64402	D	0.000003	T	0.47967	0.1474	M	0.66939	2.045	0.80722	D	1	D;D;D	0.60575	0.979;0.988;0.988	P;P;D	0.63488	0.756;0.877;0.915	T	0.32107	-0.9919	9	.	.	.	-20.839	17.6481	0.88154	0.0:0.0:1.0:0.0	.	475;469;475	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	Q	469;475	ENSP00000261897:E469Q;ENSP00000369634:E475Q	.	E	+	1	0	PRPF40B	48316828	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.388000	0.97237	2.786000	0.95864	0.655000	0.94253	GAG		0.567	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		10	119	0	0	0	1	0	10	119				
NHP2L1	4809	broad.mit.edu	37	22	42071006	42071006	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr22:42071006G>C	ENST00000401959.1	-	4	634	c.318C>G	c.(316-318)atC>atG	p.I106M	NHP2L1_ENST00000402458.1_Missense_Mutation_p.I110M|NHP2L1_ENST00000215956.5_Missense_Mutation_p.I106M|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.I106M	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	106					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ribosome biogenesis (GO:0042254)|RNA splicing (GO:0008380)	box C/D snoRNP complex (GO:0031428)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						AGCCTTCTTTGATGGTGACAG	0.557																																						ENST00000401959.1																			0				endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						c.(316-318)atC>atG		NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)							82.0	77.0	79.0					22																	42071006		2203	4300	6503	SO:0001583	missense	4809				nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding	g.chr22:42071006G>C		CCDS14022.1, CCDS33653.1	22q13	2009-01-06	2001-11-28		ENSG00000100138	ENSG00000100138			7819	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5)"""	601304	"""non-histone chromosome protein 2 (S. cerevisiae)-like 1"", ""sperm specific antigen 1"""	SSFA1		8978773	Standard	NM_005008		Approved	SNU13, FA-1, SPAG12, SNRNP15-5, 15.5K	uc003bav.3	P55769	OTTHUMG00000151189	ENST00000401959.1:c.318C>G	22.37:g.42071006G>C	ENSP00000383949:p.Ile106Met					NHP2L1_ENST00000402458.1_Missense_Mutation_p.I110M|NHP2L1_ENST00000355257.3_Missense_Mutation_p.I106M|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000215956.5_Missense_Mutation_p.I106M	p.I106M	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN			4	634	-			106						Missense_Mutation	SNP	ENST00000401959.1	37	c.318C>G	CCDS14022.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.488190	0.26686	.	.	ENSG00000100138	ENST00000355257;ENST00000215956;ENST00000401959;ENST00000402458	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.34	5.34	0.76211	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	L	0.36672	1.1	0.52099	D	0.999944	B	0.29085	0.232	B	0.42087	0.375	T	0.51694	-0.8673	10	0.51188	T	0.08	.	8.7328	0.34510	0.076:0.0:0.773:0.151	.	106	P55769	NH2L1_HUMAN	M	106;106;106;110	ENSP00000347401:I106M;ENSP00000215956:I106M;ENSP00000383949:I106M;ENSP00000383989:I110M	ENSP00000215956:I106M	I	-	3	3	NHP2L1	40400952	1.000000	0.71417	1.000000	0.80357	0.225000	0.24961	1.925000	0.40074	2.666000	0.90696	0.591000	0.81541	ATC		0.557	NHP2L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321682.1	NM_001003796		7	83	0	0	0	1	0	7	83				
ATP2B3	492	broad.mit.edu	37	X	152815068	152815068	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:152815068C>T	ENST00000349466.2	+	10	1778	c.1452C>T	c.(1450-1452)acC>acT	p.T484T	ATP2B3_ENST00000359149.3_Silent_p.T484T|ATP2B3_ENST00000393842.1_Silent_p.T470T|ATP2B3_ENST00000370186.1_Silent_p.T470T|ATP2B3_ENST00000263519.4_Silent_p.T484T|ATP2B3_ENST00000370181.2_Silent_p.T470T			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	484					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCGTATGACCGTGGTCCAGT	0.612																																						ENST00000370186.1																			0				NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50						c.(1408-1410)acC>acT		ATPase, Ca++ transporting, plasma membrane 3							166.0	127.0	140.0					X																	152815068		2203	4300	6503	SO:0001819	synonymous_variant	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152815068C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1452C>T	X.37:g.152815068C>T						ATP2B3_ENST00000359149.3_Silent_p.T484T|ATP2B3_ENST00000349466.2_Silent_p.T484T|ATP2B3_ENST00000263519.4_Silent_p.T484T|ATP2B3_ENST00000393842.1_Silent_p.T470T|ATP2B3_ENST00000370181.2_Silent_p.T470T	p.T470T			Q16720	AT2B3_HUMAN			9	1736	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		484					B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	ENST00000349466.2	37	c.1410C>T	CCDS35440.1																																																																																				0.612	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		39	119	0	0	0	1	0	39	119				
MPDZ	8777	broad.mit.edu	37	9	13138131	13138131	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr9:13138131C>G	ENST00000319217.7	-	29	4272	c.4025G>C	c.(4024-4026)gGa>gCa	p.G1342A	MPDZ_ENST00000381015.4_Missense_Mutation_p.G1342A|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1356A|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1309A|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1309A|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1342A|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1342A|MPDZ_ENST00000541093.1_5'Flank|MPDZ_ENST00000538841.1_Missense_Mutation_p.G201A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1342					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGTTAGGGTTCCATAACGCTC	0.393																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(4024-4026)gGa>gCa		multiple PDZ domain protein							56.0	51.0	53.0					9																	13138131		1867	4110	5977	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13138131C>G	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.4025G>C	9.37:g.13138131C>G	ENSP00000320006:p.Gly1342Ala					MPDZ_ENST00000541718.1_Missense_Mutation_p.G1342A|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1342A|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1342A|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1309A|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1309A|MPDZ_ENST00000538841.1_Missense_Mutation_p.G201A|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1356A	p.G1342A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	29	4272	-			1342					A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.4025G>C		.	.	.	.	.	.	.	.	.	.	C	16.77	3.215881	0.58452	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205;ENST00000433359	T;T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.92	5.01	0.66863	.	0.000000	0.45867	D	0.000322	T	0.54208	0.1844	M	0.65498	2.005	0.80722	D	1	D;P;P;D;D;D	0.89917	1.0;0.709;0.709;1.0;1.0;1.0	D;B;B;D;D;D	0.97110	0.999;0.338;0.412;1.0;0.999;1.0	T	0.55698	-0.8100	10	0.05525	T	0.97	.	17.0385	0.86483	0.0:0.8729:0.1271:0.0	.	1309;201;47;1309;1222;1342	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2	.;.;.;.;.;.	A	1342;1342;1342;278;201;1309;1309;1342;1222;1356;164	ENSP00000320006:G1342A;ENSP00000439807:G1342A;ENSP00000370410:G1342A;ENSP00000444230:G278A;ENSP00000444717:G201A;ENSP00000444151:G1309A;ENSP00000415208:G1309A;ENSP00000370403:G1342A;ENSP00000446358:G1356A;ENSP00000389705:G164A	ENSP00000320006:G1342A	G	-	2	0	MPDZ	13128131	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.786000	0.85741	1.465000	0.48006	0.650000	0.86243	GGA		0.393	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		4	24	0	0	0	1	0	4	24				
ITPR2	3709	broad.mit.edu	37	12	26493139	26493139	+	Silent	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:26493139G>C	ENST00000381340.3	-	56	8396	c.7980C>G	c.(7978-7980)gtC>gtG	p.V2660V	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2660					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	ACAGCTGTTTGACCAGACTCA	0.552																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(7978-7980)gtC>gtG		inositol 1,4,5-trisphosphate receptor, type 2							65.0	68.0	67.0					12																	26493139		2064	4226	6290	SO:0001819	synonymous_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26493139G>C	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.7980C>G	12.37:g.26493139G>C						RP11-513G19.1_ENST00000535324.1_RNA	p.V2660V	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			56	8396	-	Colorectal(261;0.0847)		2660					O94773	Silent	SNP	ENST00000381340.3	37	c.7980C>G	CCDS41764.1																																																																																				0.552	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		18	75	0	0	0	1	0	18	75				
ACAD8	27034	broad.mit.edu	37	11	134128475	134128475	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:134128475C>T	ENST00000281182.4	+	4	553	c.447C>T	c.(445-447)ctC>ctT	p.L149L	ACAD8_ENST00000537423.1_Silent_p.L72L|ACAD8_ENST00000543332.1_Silent_p.L51L|ACAD8_ENST00000374752.4_Intron|ACAD8_ENST00000524547.1_Intron	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	149					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|valine catabolic process (GO:0006574)	mitochondrial matrix (GO:0005759)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	Flavin adenine dinucleotide(DB03147)	GCCCACCGCTCTGTACCATGG	0.473																																					GBM(65;238 1125 33403 41853 48889)	ENST00000281182.4																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(445-447)ctC>ctT		acyl-CoA dehydrogenase family, member 8							134.0	94.0	107.0					11																	134128475		2201	4297	6498	SO:0001819	synonymous_variant	27034				branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	g.chr11:134128475C>T	AF126245	CCDS8498.1	11q25	2014-09-17	2010-04-30		ENSG00000151498	ENSG00000151498			87	protein-coding gene	gene with protein product		604773	"""acyl-Coenzyme A dehydrogenase family, member 8"""			10524212	Standard	NM_014384		Approved		uc001qhk.3	Q9UKU7	OTTHUMG00000167177	ENST00000281182.4:c.447C>T	11.37:g.134128475C>T						ACAD8_ENST00000543332.1_Silent_p.L51L|ACAD8_ENST00000537423.1_Silent_p.L72L|ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000374752.4_Intron	p.L149L	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)	4	553	+	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)	149					B7Z5W4|Q6ZWP6|Q9BUS8	Silent	SNP	ENST00000281182.4	37	c.447C>T	CCDS8498.1																																																																																				0.473	ACAD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393607.1	NM_014384		5	18	0	0	0	1	0	5	18				
PCDHB4	56131	broad.mit.edu	37	5	140501704	140501704	+	Missense_Mutation	SNP	T	T	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr5:140501704T>C	ENST00000194152.1	+	1	124	c.124T>C	c.(124-126)Tcc>Ccc	p.S42P	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	42	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGAGCGGCTCCTTTGTAGC	0.542																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(124-126)Tcc>Ccc									96.0	97.0	97.0					5																	140501704		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140501704T>C	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.124T>C	5.37:g.140501704T>C	ENSP00000194152:p.Ser42Pro						p.S42P	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	124	+			42			Cadherin 1.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.124T>C	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.526368	0.44969	.	.	ENSG00000081818	ENST00000194152	T	0.39997	1.05	4.66	2.12	0.27331	Cadherin, N-terminal (1);Cadherin-like (1);	.	.	.	.	T	0.68072	0.2961	H	0.97390	3.995	0.37549	D	0.918609	P	0.49358	0.923	P	0.58130	0.833	T	0.71220	-0.4657	9	0.87932	D	0	.	6.0693	0.19881	0.2857:0.0:0.1487:0.5655	.	42	Q9Y5E5	PCDB4_HUMAN	P	42	ENSP00000194152:S42P	ENSP00000194152:S42P	S	+	1	0	PCDHB4	140481888	0.000000	0.05858	0.999000	0.59377	0.834000	0.47266	-0.305000	0.08188	0.335000	0.23614	-0.336000	0.08194	TCC		0.542	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		4	76	0	0	0	1	0	4	76				
CYP4F3	4051	broad.mit.edu	37	19	15769314	15769314	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:15769314C>T	ENST00000221307.8	+	11	1310	c.1263C>T	c.(1261-1263)ctC>ctT	p.L421L	CYP4F3_ENST00000591058.1_Silent_p.L421L|CYP4F3_ENST00000586182.2_Silent_p.L421L|CYP4F3_ENST00000585846.1_Silent_p.L421L	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	421					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TTATCTGCCTCATCAGTGTTT	0.612																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(1261-1263)ctC>ctT		cytochrome P450, family 4, subfamily F, polypeptide 3							136.0	144.0	142.0					19																	15769314		2203	4300	6503	SO:0001819	synonymous_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15769314C>T	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1263C>T	19.37:g.15769314C>T						CYP4F3_ENST00000585846.1_Silent_p.L421L|CYP4F3_ENST00000586182.1_Silent_p.L421L|CYP4F3_ENST00000591058.1_Silent_p.L421L	p.L421L	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			11	1311	+			421					B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	c.1263C>T	CCDS12332.1																																																																																				0.612	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		8	265	0	0	0	1	0	8	265				
KNG1	3827	broad.mit.edu	37	3	186442879	186442879	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:186442879G>A	ENST00000265023.4	+	4	606	c.394G>A	c.(394-396)Gag>Aag	p.E132K	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.E132K|KNG1_ENST00000287611.2_Missense_Mutation_p.E132K	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	132	Cystatin kininogen-type 1. {ECO:0000255|PROSITE-ProRule:PRU00979}.|O-glycosylated at one site only.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.E132K(2)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TTGTTAAGCCGAGGGCCCTGT	0.532																																						ENST00000265023.4																			2	Substitution - Missense(2)	p.E132K(2)	lung(2)	endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(394-396)Gag>Aag		kininogen 1	Ouabain(DB01092)						78.0	73.0	75.0					3																	186442879		2203	4300	6503	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186442879G>A		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.394G>A	3.37:g.186442879G>A	ENSP00000265023:p.Glu132Lys					KNG1_ENST00000447445.1_Missense_Mutation_p.E132K|KNG1_ENST00000287611.2_Missense_Mutation_p.E132K|RP11-573D15.8_ENST00000599314.1_RNA	p.E132K	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	4	606	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		132			Cystatin 1.|O-glycosylated at one site only.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.394G>A	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519429	0.27211	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.18960	2.3;2.58;2.18	4.92	0.969	0.19686	.	0.685569	0.13560	N	0.378884	T	0.11750	0.0286	L	0.37750	1.13	0.09310	N	1	B;B	0.27166	0.077;0.17	B;B	0.17098	0.017;0.016	T	0.34378	-0.9831	10	0.13853	T	0.58	-4.0154	4.2228	0.10567	0.2629:0.0:0.5745:0.1627	.	132;132	P01042;P01042-2	KNG1_HUMAN;.	K	132;132;132;120	ENSP00000287611:E132K;ENSP00000265023:E132K;ENSP00000396025:E132K	ENSP00000265023:E132K	E	+	1	0	KNG1	187925573	0.004000	0.15560	0.006000	0.13384	0.639000	0.38242	0.712000	0.25779	0.042000	0.15717	-0.254000	0.11334	GAG		0.532	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		13	29	0	0	0	1	0	13	29				
BOD1L1	259282	broad.mit.edu	37	4	13616234	13616234	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr4:13616234C>G	ENST00000040738.5	-	4	895	c.760G>C	c.(760-762)Gag>Cag	p.E254Q		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	254						nucleus (GO:0005634)	DNA binding (GO:0003677)										GCCATGTCCTCTGAAGTTCTT	0.453																																						ENST00000040738.5																			0											c.(760-762)Gag>Cag		biorientation of chromosomes in cell division 1-like 1							114.0	101.0	105.0					4																	13616234		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13616234C>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.760G>C	4.37:g.13616234C>G	ENSP00000040738:p.Glu254Gln						p.E254Q	NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN			4	895	-			254					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.760G>C	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	C	18.84	3.710252	0.68730	.	.	ENSG00000038219	ENST00000040738	T	0.11712	2.75	5.74	5.74	0.90152	.	0.000000	0.49916	D	0.000137	T	0.33411	0.0862	M	0.68952	2.095	0.38054	D	0.935887	D	0.89917	1.0	D	0.71184	0.972	T	0.01781	-1.1275	10	0.45353	T	0.12	-9.5135	19.9091	0.97019	0.0:1.0:0.0:0.0	.	254	Q8NFC6	BOD1L_HUMAN	Q	254	ENSP00000040738:E254Q	ENSP00000040738:E254Q	E	-	1	0	BOD1L	13225332	1.000000	0.71417	0.998000	0.56505	0.535000	0.34838	6.938000	0.75904	2.704000	0.92352	0.585000	0.79938	GAG		0.453	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894		3	37	0	0	0	1	0	3	37				
LRRIQ1	84125	broad.mit.edu	37	12	85434298	85434298	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr12:85434298C>T	ENST00000393217.2	+	3	224	c.163C>T	c.(163-165)Cac>Tac	p.H55Y		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	55										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATCAGTTCTTCACTGTATTAA	0.303																																						ENST00000393217.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(163-165)Cac>Tac		leucine-rich repeats and IQ motif containing 1							86.0	90.0	88.0					12																	85434298		2203	4293	6496	SO:0001583	missense	84125							g.chr12:85434298C>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.163C>T	12.37:g.85434298C>T	ENSP00000376910:p.His55Tyr						p.H55Y	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	3	224	+			55					Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.163C>T	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	C	9.702	1.154628	0.21371	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393212;ENST00000393217	T;T	0.52526	0.94;0.66	4.53	3.36	0.38483	.	0.342546	0.21077	N	0.080541	T	0.27027	0.0662	N	0.13098	0.295	0.29697	N	0.840478	B;B	0.12013	0.005;0.003	B;B	0.10450	0.005;0.004	T	0.08806	-1.0704	10	0.30078	T	0.28	.	7.9767	0.30159	0.0:0.8353:0.0:0.1647	.	55;55	Q96JM4;C9JI57	LRIQ1_HUMAN;.	Y	55	ENSP00000376906:H55Y;ENSP00000376910:H55Y	ENSP00000256007:H55Y	H	+	1	0	LRRIQ1	83958429	0.997000	0.39634	1.000000	0.80357	0.822000	0.46500	0.513000	0.22770	2.239000	0.73571	0.404000	0.27445	CAC		0.303	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		7	45	0	0	0	1	0	7	45				
ZNF74	7625	broad.mit.edu	37	22	20749634	20749634	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr22:20749634C>T	ENST00000400451.2	+	2	560	c.46C>T	c.(46-48)Cag>Tag	p.Q16*	ZNF74_ENST00000403682.3_Intron|ZNF74_ENST00000356671.5_Nonsense_Mutation_p.Q16*|ZNF74_ENST00000405993.1_Nonsense_Mutation_p.Q16*|ZNF74_ENST00000357502.5_Missense_Mutation_p.S21L	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	16					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			TCTTTCCTCTCAGGATCCTGC	0.532																																						ENST00000400451.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(46-48)Cag>Tag		zinc finger protein 74							141.0	145.0	144.0					22																	20749634		1964	4150	6114	SO:0001587	stop_gained	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20749634C>T	X71623	CCDS42982.1, CCDS58794.1	22q11.2	2013-01-08	2006-05-12		ENSG00000185252	ENSG00000185252		"""Zinc fingers, C2H2-type"", ""-"""	13144	protein-coding gene	gene with protein product		194548	"""zinc finger protein 74 (Cos52)"""			1639391, 10591208	Standard	NM_003426		Approved	Cos52, Zfp520, ZNF520	uc010gsm.4	Q16587	OTTHUMG00000150687	ENST00000400451.2:c.46C>T	22.37:g.20749634C>T	ENSP00000383301:p.Gln16*					ZNF74_ENST00000403682.3_Intron|ZNF74_ENST00000405993.1_Nonsense_Mutation_p.Q16*|ZNF74_ENST00000357502.5_Missense_Mutation_p.S21L|ZNF74_ENST00000356671.5_Nonsense_Mutation_p.Q16*	p.Q16*	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		2	560	+	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	16					B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Nonsense_Mutation	SNP	ENST00000400451.2	37	c.46C>T	CCDS42982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	40|40	8.048939|8.048939	0.98627|0.98627	.|.	.|.	ENSG00000185252|ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993|ENST00000357502	.|.	.|.	.|.	4.22|4.22	4.22|4.22	0.49857|0.49857	.|.	0.282136|.	0.19186|.	N|.	0.120546|.	.|T	.|0.55752	.|0.1940	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.63844	.|-0.6545	.|4	0.17369|0.33141	T|T	0.5|0.24	-18.2956|-18.2956	12.2436|12.2436	0.54558|0.54558	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	16|21	.|.	ENSP00000349098:Q16X|ENSP00000350101:S21L	Q|S	+|+	1|2	0|0	ZNF74|ZNF74	19079634|19079634	0.027000|0.027000	0.19231|0.19231	0.065000|0.065000	0.19835|0.19835	0.639000|0.639000	0.38242|0.38242	1.434000|1.434000	0.34958|0.34958	2.359000|2.359000	0.80004|0.80004	0.591000|0.591000	0.81541|0.81541	CAG|TCA		0.532	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2	NM_003426		30	104	0	0	0	1	0	30	104				
SOCS6	9306	broad.mit.edu	37	18	67992151	67992151	+	Missense_Mutation	SNP	G	G	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:67992151G>T	ENST00000397942.3	+	2	563	c.247G>T	c.(247-249)Gca>Tca	p.A83S	SOCS6_ENST00000582322.1_Missense_Mutation_p.A83S	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	83					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				GCGGCTTTCTGCAAAACAGAA	0.507																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(247-249)Gca>Tca		suppressor of cytokine signaling 6							80.0	83.0	82.0					18																	67992151		2203	4300	6503	SO:0001583	missense	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992151G>T	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.247G>T	18.37:g.67992151G>T	ENSP00000381034:p.Ala83Ser					SOCS6_ENST00000582322.1_Missense_Mutation_p.A83S	p.A83S	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN			2	563	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	83					Q8WUM3	Missense_Mutation	SNP	ENST00000397942.3	37	c.247G>T	CCDS11998.1	.	.	.	.	.	.	.	.	.	.	G	3.665	-0.068651	0.07228	.	.	ENSG00000170677	ENST00000397942	T	0.26660	1.72	5.27	4.37	0.52481	.	0.143286	0.47093	D	0.000250	T	0.25121	0.0610	L	0.43923	1.385	0.09310	N	1	B	0.21071	0.051	B	0.16722	0.016	T	0.22277	-1.0221	10	0.87932	D	0	-2.4242	15.0226	0.71643	0.0:0.0:0.8565:0.1435	.	83	O14544	SOCS6_HUMAN	S	83	ENSP00000381034:A83S	ENSP00000381034:A83S	A	+	1	0	SOCS6	66143131	0.996000	0.38824	0.002000	0.10522	0.024000	0.10985	3.016000	0.49607	1.170000	0.42753	0.561000	0.74099	GCA		0.507	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			18	111	1	0	3.5997e-14	1	3.8341e-14	18	111				
TIAM2	26230	broad.mit.edu	37	6	155532355	155532355	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:155532355G>C	ENST00000461783.3	+	17	4355	c.3082G>C	c.(3082-3084)Gat>Cat	p.D1028H	TIAM2_ENST00000528391.2_Missense_Mutation_p.D364H|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1052H|TIAM2_ENST00000367174.2_Missense_Mutation_p.D404H|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1028H|TIAM2_ENST00000456877.2_Missense_Mutation_p.D340H|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1028H|TIAM2_ENST00000456144.1_Missense_Mutation_p.D1028H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1028					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAACGTCCCTGATATCACAAC	0.433																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(3082-3084)Gat>Cat		T-cell lymphoma invasion and metastasis 2							73.0	69.0	70.0					6																	155532355		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155532355G>C		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.3082G>C	6.37:g.155532355G>C	ENSP00000437188:p.Asp1028His					TIAM2_ENST00000528391.2_Missense_Mutation_p.D364H|TIAM2_ENST00000456144.1_Missense_Mutation_p.D1028H|TIAM2_ENST00000456877.2_Missense_Mutation_p.D340H|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1052H|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1028H|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1028H|TIAM2_ENST00000367174.2_Missense_Mutation_p.D404H	p.D1028H			Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	17	4355	+		Ovarian(120;0.196)	1028					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.3082G>C	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916886	0.52546	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000367174;ENST00000360366;ENST00000529824;ENST00000456877;ENST00000528391	T;T;T;T;T;T;T;T;T	0.06218	3.53;3.43;3.49;3.53;3.35;3.51;3.49;3.34;3.33	4.89	4.89	0.63831	.	0.460210	0.24547	N	0.037581	T	0.04588	0.0125	L	0.29908	0.895	0.38315	D	0.943375	P;P;P;P	0.46912	0.579;0.886;0.813;0.716	B;P;P;B	0.48166	0.372;0.569;0.569;0.366	T	0.52102	-0.8620	10	0.35671	T	0.21	.	16.2316	0.82347	0.0:0.0:1.0:0.0	.	364;1028;1052;1028	E9PKT1;Q8IVF5-2;Q8IVF5-5;Q8IVF5	.;.;.;TIAM2_HUMAN	H	1028;1274;1028;1028;1028;404;1052;1028;340;364	ENSP00000437188:D1028H;ENSP00000434901:D1028H;ENSP00000407746:D1028H;ENSP00000327315:D1028H;ENSP00000356142:D404H;ENSP00000353528:D1052H;ENSP00000433348:D1028H;ENSP00000407183:D340H;ENSP00000435335:D364H	ENSP00000327315:D1028H	D	+	1	0	TIAM2	155574047	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	5.985000	0.70556	2.275000	0.75901	0.555000	0.69702	GAT		0.433	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		16	28	0	0	0	1	0	16	28				
ZNF750	79755	broad.mit.edu	37	17	80790229	80790229	+	Nonsense_Mutation	SNP	G	G	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:80790229G>T	ENST00000269394.3	-	2	935	c.102C>A	c.(100-102)tgC>tgA	p.C34*	TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	34					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ACTTCTCATTGCAAGTAAAGG	0.413																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(100-102)tgC>tgA		zinc finger protein 750							103.0	107.0	106.0					17																	80790229		2203	4300	6503	SO:0001587	stop_gained	79755					intracellular	zinc ion binding	g.chr17:80790229G>T	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.102C>A	17.37:g.80790229G>T	ENSP00000269394:p.Cys34*					TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	p.C34*	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	935	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	34					Q9H899	Nonsense_Mutation	SNP	ENST00000269394.3	37	c.102C>A	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	G	42	9.775221	0.99260	.	.	ENSG00000141579	ENST00000269394	.	.	.	5.97	5.0	0.66597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-31.7482	13.9593	0.64168	0.0722:0.0:0.9278:0.0	.	.	.	.	X	34	.	.	C	-	3	2	ZNF750	78383518	1.000000	0.71417	1.000000	0.80357	0.599000	0.36880	6.590000	0.74085	1.529000	0.49120	0.655000	0.94253	TGC		0.413	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		40	49	1	0	5.04308e-16	1	5.39657e-16	40	49				
OR2AK2	391191	broad.mit.edu	37	1	248128891	248128891	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:248128891C>T	ENST00000366480.3	+	1	357	c.258C>T	c.(256-258)ctC>ctT	p.L86L	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCGTTGACCTCATGTACATCT	0.468																																					Melanoma(45;390 1181 23848 28461 41504)	ENST00000366480.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(256-258)ctC>ctT		olfactory receptor, family 2, subfamily AK, member 2							201.0	176.0	185.0					1																	248128891		2203	4300	6503	SO:0001819	synonymous_variant	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248128891C>T	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.258C>T	1.37:g.248128891C>T						OR2L13_ENST00000366478.2_Intron	p.L86L	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	357	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		86					B2RND1|Q6IF05	Silent	SNP	ENST00000366480.3	37	c.258C>T	CCDS31102.1																																																																																				0.468	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		6	108	0	0	0	1	0	6	108				
CIC	23152	broad.mit.edu	37	19	42794548	42794548	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:42794548C>T	ENST00000575354.2	+	10	1668	c.1628C>T	c.(1627-1629)tCa>tTa	p.S543L	CIC_ENST00000572681.2_Missense_Mutation_p.S1452L|CIC_ENST00000160740.3_Missense_Mutation_p.S543L	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	543	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCTTCCTCCTCAGCCTCGGCA	0.677			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(4354-4356)tCa>tTa		capicua transcriptional repressor							65.0	67.0	66.0					19																	42794548		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42794548C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1628C>T	19.37:g.42794548C>T	ENSP00000458663:p.Ser543Leu					CIC_ENST00000575354.2_Missense_Mutation_p.S543L|CIC_ENST00000160740.3_Missense_Mutation_p.S543L	p.S1452L			Q96RK0	CIC_HUMAN			11	4423	+		Prostate(69;0.00682)	543					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.4355C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.629496	0.28978	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	T	0.52141	0.1716	N	0.08118	0	0.36404	D	0.86329	D	0.57899	0.981	D	0.67231	0.95	T	0.66143	-0.5997	8	0.87932	D	0	-13.7991	14.1309	0.65253	0.0:1.0:0.0:0.0	.	543	Q96RK0	CIC_HUMAN	L	543	.	ENSP00000160740:S543L	S	+	2	0	CIC	47486388	0.780000	0.28664	0.937000	0.37676	0.246000	0.25737	2.621000	0.46418	2.489000	0.83994	0.491000	0.48974	TCA		0.677	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			30	87	0	0	0	1	0	30	87				
PSD3	23362	broad.mit.edu	37	8	18729586	18729586	+	Missense_Mutation	SNP	G	G	A	rs368285479		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr8:18729586G>A	ENST00000327040.8	-	3	890	c.788C>T	c.(787-789)gCa>gTa	p.A263V	PSD3_ENST00000523619.1_Missense_Mutation_p.A198V|PSD3_ENST00000440756.2_Missense_Mutation_p.A263V	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	263					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AACACTGCCTGCAGAGTGGCA	0.582																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(787-789)gCa>gTa		pleckstrin and Sec7 domain containing 3		G	VAL/ALA	0,3896		0,0,1948	39.0	41.0	40.0		788	-8.2	0.0	8		40	1,8293		0,1,4146	no	missense	PSD3	NM_015310.3	64	0,1,6094	AA,AG,GG		0.0121,0.0,0.0082	benign	263/1048	18729586	1,12189	1948	4147	6095	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18729586G>A	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.788C>T	8.37:g.18729586G>A	ENSP00000324127:p.Ala263Val					PSD3_ENST00000327040.8_Missense_Mutation_p.A263V|PSD3_ENST00000523619.1_Missense_Mutation_p.A198V	p.A263V			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	3	890	-			263					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.788C>T	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	G	0.036	-1.304750	0.01353	0.0	1.21E-4	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.29397	1.57;1.57;1.57	5.84	-8.22	0.01037	.	2.033050	0.02008	N	0.046789	T	0.11537	0.0281	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13845	-1.0494	10	0.17369	T	0.5	.	4.6954	0.12800	0.5837:0.0946:0.1995:0.1223	.	263	E9KL50	.	V	263;263;198	ENSP00000324127:A263V;ENSP00000401704:A263V;ENSP00000430640:A198V	ENSP00000324127:A263V	A	-	2	0	PSD3	18773866	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.903000	0.04084	-1.437000	0.01967	-0.793000	0.03317	GCA		0.582	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		8	53	0	0	0	1	0	8	53				
RIOK1	83732	broad.mit.edu	37	6	7402876	7402876	+	Missense_Mutation	SNP	G	G	C	rs148276498		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:7402876G>C	ENST00000379834.2	+	7	1121	c.614G>C	c.(613-615)aGa>aCa	p.R205T		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	205	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GGAGAGAGCAGAGCAATCAAA	0.318																																						ENST00000379834.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(613-615)aGa>aCa		RIO kinase 1							80.0	87.0	85.0					6																	7402876		2203	4299	6502	SO:0001583	missense	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7402876G>C	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.614G>C	6.37:g.7402876G>C	ENSP00000369162:p.Arg205Thr						p.R205T	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			7	1121	+	Ovarian(93;0.0418)		205			Protein kinase.		B2RB28|Q8NDC8|Q96NV9	Missense_Mutation	SNP	ENST00000379834.2	37	c.614G>C	CCDS4500.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454242	0.84209	.	.	ENSG00000124784	ENST00000379834	T	0.07908	3.15	6.07	6.07	0.98685	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	M	0.78637	2.42	0.80722	D	1	D	0.58620	0.983	P	0.59424	0.857	T	0.01405	-1.1363	10	0.22706	T	0.39	-34.9545	19.6475	0.95784	0.0:0.0:1.0:0.0	.	205	Q9BRS2	RIOK1_HUMAN	T	205	ENSP00000369162:R205T	ENSP00000369162:R205T	R	+	2	0	RIOK1	7347875	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.595000	0.98260	2.885000	0.99019	0.655000	0.94253	AGA		0.318	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		20	93	0	0	0	1	0	20	93				
NAV2	89797	broad.mit.edu	37	11	20129232	20129232	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:20129232C>T	ENST00000396087.3	+	39	7140	c.7041C>T	c.(7039-7041)tgC>tgT	p.C2347C	NAV2_ENST00000396085.1_Silent_p.C2291C|NAV2_ENST00000360655.4_Silent_p.C2224C|NAV2_ENST00000527559.2_Silent_p.C2276C|NAV2_ENST00000533917.1_Silent_p.C1352C|NAV2_ENST00000349880.4_Silent_p.C2288C|NAV2_ENST00000311043.8_Silent_p.C1352C|NAV2_ENST00000540292.1_Silent_p.C2278C	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2347					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCTGTCATGCCCCATCGATG	0.552																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(6871-6873)tgC>tgT		neuron navigator 2							298.0	292.0	294.0					11																	20129232		2203	4300	6503	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:20129232C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.7041C>T	11.37:g.20129232C>T						NAV2_ENST00000360655.4_Silent_p.C2224C|NAV2_ENST00000349880.4_Silent_p.C2288C|NAV2_ENST00000527559.2_Silent_p.C2276C|NAV2_ENST00000533917.1_Silent_p.C1352C|NAV2_ENST00000311043.8_Silent_p.C1352C|NAV2_ENST00000396087.3_Silent_p.C2347C|NAV2_ENST00000540292.1_Silent_p.C2278C	p.C2291C	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			37	7234	+			2347					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.6873C>T	CCDS58126.1																																																																																				0.552	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		5	460	0	0	0	1	0	5	460				
MROH8	140699	broad.mit.edu	37	20	35742407	35742407	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr20:35742407C>T	ENST00000400441.3	-	20	2676	c.2677G>A	c.(2677-2679)Gat>Aat	p.D893N	MROH8_ENST00000217333.8_Missense_Mutation_p.D722N|MROH8_ENST00000441008.2_Missense_Mutation_p.D879N			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	0																	GCTACTGCATCATTTTCATCC	0.433																																						ENST00000400441.3																			0											c.(2677-2679)Gat>Aat		maestro heat-like repeat family member 8							124.0	119.0	121.0					20																	35742407		1904	4121	6025	SO:0001583	missense	140699							g.chr20:35742407C>T	AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.2677G>A	20.37:g.35742407C>T	ENSP00000383291:p.Asp893Asn					MROH8_ENST00000441008.2_Missense_Mutation_p.D879N|MROH8_ENST00000217333.8_Missense_Mutation_p.D722N	p.D893N							20	2676	-								Q5JYQ6	Missense_Mutation	SNP	ENST00000400441.3	37	c.2677G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.22|15.22	2.767691|2.767691	0.49574|0.49574	.|.	.|.	ENSG00000101353|ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333|ENST00000343811	T;T;T|.	0.68181|.	-0.31;1.36;-0.2|.	5.74|5.74	4.8|4.8	0.61643|0.61643	.|.	0.562078|.	0.18321|.	N|.	0.144812|.	T|T	0.55465|0.55465	0.1922|0.1922	L|L	0.54323|0.54323	1.7|1.7	0.32141|0.32141	N|N	0.58554|0.58554	D;D|.	0.64830|.	0.994;0.991|.	P;P|.	0.59487|.	0.795;0.858|.	T|T	0.63102|0.63102	-0.6712|-0.6712	10|5	0.22706|.	T|.	0.39|.	-8.7144|-8.7144	10.603|10.603	0.45377|0.45377	0.0:0.9114:0.0:0.0886|0.0:0.9114:0.0:0.0886	.|.	893;727|.	E7ETR9;Q9H579-2|.	.;.|.	N|I	879;893;722|919	ENSP00000392144:D879N;ENSP00000383291:D893N;ENSP00000217333:D722N|.	ENSP00000217333:D722N|.	D|M	-|-	1|3	0|0	C20orf132|C20orf132	35175821|35175821	0.057000|0.057000	0.20700|0.20700	0.984000|0.984000	0.44739|0.44739	0.484000|0.484000	0.33280|0.33280	0.936000|0.936000	0.28938|0.28938	1.419000|1.419000	0.47118|0.47118	0.609000|0.609000	0.83330|0.83330	GAT|ATG		0.433	MROH8-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152503		5	37	0	0	0	1	0	5	37				
C3orf56	285311	broad.mit.edu	37	3	126915966	126915966	+	Silent	SNP	C	C	A	rs556552325		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:126915966C>A	ENST00000398112.1	+	2	678	c.438C>A	c.(436-438)ggC>ggA	p.G146G		NM_001007534.2	NP_001007535.1	Q8N813	CC056_HUMAN	chromosome 3 open reading frame 56	146										breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCACTCTGGGCGGGGCCACCT	0.627																																						ENST00000398112.1																			0				breast(1)|endometrium(2)|kidney(1)|lung(5)	9						c.(436-438)ggC>ggA		chromosome 3 open reading frame 56							61.0	71.0	68.0					3																	126915966		1877	4089	5966	SO:0001819	synonymous_variant	285311							g.chr3:126915966C>A	AK097460	CCDS63757.1	3q21.3	2012-08-08			ENSG00000214324	ENSG00000214324			32481	protein-coding gene	gene with protein product						14702039	Standard	NM_001007534		Approved	FLJ40141	uc003eji.1	Q8N813	OTTHUMG00000159593	ENST00000398112.1:c.438C>A	3.37:g.126915966C>A							p.G146G	NM_001007534.2	NP_001007535.1				GBM - Glioblastoma multiforme(114;0.142)	2	678	+								B2RNW5	Silent	SNP	ENST00000398112.1	37	c.438C>A																																																																																					0.627	C3orf56-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000356354.1			4	183	1	0	0.00909568	1	0.00917582	4	183				
HNRNPD	3184	broad.mit.edu	37	4	83280732	83280732	+	Missense_Mutation	SNP	A	A	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr4:83280732A>T	ENST00000313899.7	-	3	628	c.351T>A	c.(349-351)ttT>ttA	p.F117L	HNRNPD_ENST00000353341.4_Missense_Mutation_p.F117L|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000543098.1_Missense_Mutation_p.F65L|HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000352301.4_Missense_Mutation_p.F98L	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	117	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						CAAATTTGGAAAAGTAGTCCT	0.378																																						ENST00000313899.7																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						c.(349-351)ttT>ttA		heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)							124.0	122.0	123.0					4																	83280732		2203	4300	6503	SO:0001583	missense	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83280732A>T	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.351T>A	4.37:g.83280732A>T	ENSP00000313199:p.Phe117Leu					HNRNPD_ENST00000543098.1_Missense_Mutation_p.F65L|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000353341.4_Missense_Mutation_p.F117L|HNRNPD_ENST00000352301.4_Missense_Mutation_p.F98L	p.F117L	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN			3	628	-			117			RRM 1.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP	ENST00000313899.7	37	c.351T>A	CCDS3592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.22|16.22	3.062131|3.062131	0.55432|0.55432	.|.	.|.	ENSG00000138668|ENSG00000138668	ENST00000514671|ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000509263;ENST00000507010;ENST00000515432;ENST00000503822;ENST00000509107	T|T;T;T;T;T;T;T;T;T	0.47177|0.43294	0.85|0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.86|5.86	2.25|2.25	0.28309|0.28309	.|Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.51702|0.51702	0.1690|0.1690	M|M	0.88241|0.88241	2.94|2.94	0.80722|0.80722	D|D	1|1	.|P;P;B;B	.|0.34587	.|0.458;0.458;0.234;0.276	.|B;B;B;B	.|0.42495	.|0.389;0.389;0.245;0.359	T|T	0.51585|0.51585	-0.8687|-0.8687	8|10	0.87932|0.44086	D|T	0|0.13	.|.	7.591|7.591	0.28021|0.28021	0.621:0.0:0.379:0.0|0.621:0.0:0.379:0.0	.|.	.|98;117;98;117	.|Q14103-4;Q14103-3;Q14103-2;Q14103	.|.;.;.;HNRPD_HUMAN	I|L	21|117;117;98;65;92;50;117;19;98;71	ENSP00000426446:F21I|ENSP00000313199:F117L;ENSP00000313327:F117L;ENSP00000305860:F98L;ENSP00000439380:F65L;ENSP00000420926:F50L;ENSP00000421952:F117L;ENSP00000426666:F19L;ENSP00000422615:F98L;ENSP00000425439:F71L	ENSP00000426446:F21I|ENSP00000307544:F92L	F|F	-|-	1|3	0|2	HNRNPD|HNRNPD	83499756|83499756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	1.648000|1.648000	0.37271|0.37271	0.747000|0.747000	0.32809|0.32809	0.528000|0.528000	0.53228|0.53228	TTC|TTT		0.378	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2	NM_031370		17	60	0	0	0	1	0	17	60				
CDC45	8318	broad.mit.edu	37	22	19470230	19470230	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr22:19470230C>T	ENST00000407835.1	+	5	478	c.222C>T	c.(220-222)ctC>ctT	p.L74L	CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000437685.2_Silent_p.L74L|CDC45_ENST00000263201.1_Silent_p.L74L|CDC45_ENST00000404724.3_Intron			O75419	CDC45_HUMAN	cell division cycle 45	74					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						ATTTTATTCTCATAAACTGTG	0.383																																						ENST00000407835.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						c.(220-222)ctC>ctT		cell division cycle 45							180.0	168.0	172.0					22																	19470230		2203	4300	6503	SO:0001819	synonymous_variant	8318				DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	g.chr22:19470230C>T	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.222C>T	22.37:g.19470230C>T						CDC45_ENST00000437685.2_Silent_p.L74L|CDC45_ENST00000263201.1_Silent_p.L74L|CDC45_ENST00000404724.3_Intron|CDC45_ENST00000483431.1_3'UTR	p.L74L			O75419	CDC45_HUMAN			5	478	+			74					B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Silent	SNP	ENST00000407835.1	37	c.222C>T	CCDS13762.1																																																																																				0.383	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000317903.1	NM_003504		4	81	0	0	0	1	0	4	81				
ZFAND4	93550	broad.mit.edu	37	10	46122283	46122283	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr10:46122283G>C	ENST00000344646.5	-	7	1203	c.988C>G	c.(988-990)Cac>Gac	p.H330D	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374366.3_Missense_Mutation_p.H256D	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	330							zinc ion binding (GO:0008270)										CTACTGAAGTGAGACAGTGTG	0.433																																						ENST00000374366.3																			0											c.(766-768)Cac>Gac		zinc finger, AN1-type domain 4							141.0	137.0	138.0					10																	46122283		2203	4300	6503	SO:0001583	missense	93550						zinc ion binding	g.chr10:46122283G>C	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.988C>G	10.37:g.46122283G>C	ENSP00000339484:p.His330Asp					ZFAND4_ENST00000344646.5_Missense_Mutation_p.H330D|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR	p.H256D			Q86XD8	ANUB1_HUMAN			8	1231	-			330					A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	c.766C>G	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	G	5.432	0.264776	0.10294	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.21932	1.98;1.98	5.38	4.47	0.54385	.	0.859533	0.10152	N	0.709470	T	0.22859	0.0552	L	0.44542	1.39	0.09310	N	1	B	0.23650	0.089	B	0.21546	0.035	T	0.19943	-1.0290	10	0.56958	D	0.05	-30.3334	14.0246	0.64577	0.0:0.1521:0.8479:0.0	.	330	Q86XD8	ANUB1_HUMAN	D	330;256;212	ENSP00000339484:H330D;ENSP00000363486:H256D	ENSP00000339484:H330D	H	-	1	0	ANUBL1	45442289	1.000000	0.71417	0.067000	0.19924	0.265000	0.26407	4.796000	0.62496	1.251000	0.43983	0.650000	0.86243	CAC		0.433	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1	NM_174890		5	50	0	0	0	1	0	5	50				
ADCY4	196883	broad.mit.edu	37	14	24789008	24789008	+	Silent	SNP	G	G	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr14:24789008G>T	ENST00000310677.4	-	22	2786	c.2673C>A	c.(2671-2673)atC>atA	p.I891I	ADCY4_ENST00000554068.2_Silent_p.I891I|ADCY4_ENST00000418030.2_Silent_p.I891I	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	891					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCTCATGATTGATGTTGGATT	0.473																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2671-2673)atC>atA		adenylate cyclase 4							104.0	95.0	98.0					14																	24789008		2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24789008G>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2673C>A	14.37:g.24789008G>T						ADCY4_ENST00000418030.2_Silent_p.I891I|ADCY4_ENST00000554068.2_Silent_p.I891I	p.I891I	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	22	2786	-			891					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.2673C>A	CCDS9627.1																																																																																				0.473	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			6	44	1	0	3.59834e-05	1	3.67866e-05	6	44				
RIOK1	83732	broad.mit.edu	37	6	7403092	7403092	+	Silent	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:7403092G>A	ENST00000379834.2	+	8	1236	c.729G>A	c.(727-729)gtG>gtA	p.V243V		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	243	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GGAAAATGGTGAAAACTTGGG	0.353																																						ENST00000379834.2																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(727-729)gtG>gtA		RIO kinase 1							90.0	90.0	90.0					6																	7403092		2203	4300	6503	SO:0001819	synonymous_variant	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7403092G>A	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.729G>A	6.37:g.7403092G>A							p.V243V	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN			8	1236	+	Ovarian(93;0.0418)		243			Protein kinase.		B2RB28|Q8NDC8|Q96NV9	Silent	SNP	ENST00000379834.2	37	c.729G>A	CCDS4500.1																																																																																				0.353	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	NM_031480		6	40	0	0	0	1	0	6	40				
OR4D5	219875	broad.mit.edu	37	11	123811260	123811260	+	Missense_Mutation	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:123811260G>A	ENST00000307033.2	+	1	1011	c.937G>A	c.(937-939)Gag>Aag	p.E313K		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	313						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGTCCCCTGGAGCACAGACC	0.493																																						ENST00000307033.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(937-939)Gag>Aag		olfactory receptor, family 4, subfamily D, member 5							57.0	58.0	58.0					11																	123811260		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123811260G>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.937G>A	11.37:g.123811260G>A	ENSP00000305970:p.Glu313Lys						p.E313K	NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	1011	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	313					B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.937G>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664535	0.29604	.	.	ENSG00000171014	ENST00000307033	T	0.00289	8.28	4.36	-0.888	0.10583	.	1.777460	0.03570	U	0.228427	T	0.00144	0.0004	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28106	-1.0054	10	0.49607	T	0.09	0.7343	8.2908	0.31956	0.454:0.0:0.546:0.0	.	313	Q8NGN0	OR4D5_HUMAN	K	313	ENSP00000305970:E313K	ENSP00000305970:E313K	E	+	1	0	OR4D5	123316470	0.006000	0.16342	0.000000	0.03702	0.003000	0.03518	0.752000	0.26362	-0.089000	0.12484	-0.136000	0.14681	GAG		0.493	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		5	102	0	0	0	1	0	5	102				
NLGN3	54413	broad.mit.edu	37	X	70387117	70387117	+	Silent	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:70387117C>G	ENST00000358741.3	+	7	1473	c.1170C>G	c.(1168-1170)ctC>ctG	p.L390L	NLGN3_ENST00000374051.3_Silent_p.L370L|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Silent_p.L350L	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	390					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CTGAGATCCTCATGGAGCAGG	0.567																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(1108-1110)ctC>ctG		neuroligin 3							117.0	86.0	96.0					X																	70387117		2203	4300	6503	SO:0001819	synonymous_variant	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70387117C>G	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1170C>G	X.37:g.70387117C>G						NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Silent_p.L350L|NLGN3_ENST00000358741.3_Silent_p.L390L	p.L370L	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN			6	1432	+	Renal(35;0.156)		390					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP	ENST00000358741.3	37	c.1110C>G	CCDS55441.1																																																																																				0.567	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		14	52	0	0	0	1	0	14	52				
OR4B1	119765	broad.mit.edu	37	11	48238859	48238859	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:48238859C>T	ENST00000309562.2	+	1	516	c.498C>T	c.(496-498)ttC>ttT	p.F166F		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AATTGCCCTTCTGTGGTCCCA	0.488																																						ENST00000309562.2																			0				breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(496-498)ttC>ttT		olfactory receptor, family 4, subfamily B, member 1							127.0	125.0	126.0					11																	48238859		2201	4298	6499	SO:0001819	synonymous_variant	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238859C>T	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.498C>T	11.37:g.48238859C>T							p.F166F	NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN			1	516	+			166					Q6IF75|Q96R64	Silent	SNP	ENST00000309562.2	37	c.498C>T	CCDS31485.1																																																																																				0.488	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	NM_001005470		20	81	0	0	0	1	0	20	81				
DHX38	9785	broad.mit.edu	37	16	72139145	72139145	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr16:72139145G>C	ENST00000268482.3	+	17	2786	c.2277G>C	c.(2275-2277)caG>caC	p.Q759H	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	759	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCTCAGACCAGATTGTGGAGC	0.567																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3																			0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(2275-2277)caG>caC		DEAH (Asp-Glu-Ala-His) box polypeptide 38							70.0	63.0	65.0					16																	72139145		2198	4300	6498	SO:0001583	missense	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72139145G>C	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2277G>C	16.37:g.72139145G>C	ENSP00000268482:p.Gln759His					DHX38_ENST00000536867.1_Intron	p.Q759H	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN			17	2786	+		Ovarian(137;0.125)	759			Helicase C-terminal.		B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	c.2277G>C	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.353599	0.61293	.	.	ENSG00000140829	ENST00000268482	T	0.14516	2.5	5.69	3.73	0.42828	Helicase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	N	0.25144	0.715	0.80722	D	1	D	0.52996	0.957	P	0.50049	0.629	T	0.00961	-1.1499	10	0.72032	D	0.01	.	13.3831	0.60780	0.1981:0.0:0.8019:0.0	.	759	Q92620	PRP16_HUMAN	H	759	ENSP00000268482:Q759H	ENSP00000268482:Q759H	Q	+	3	2	DHX38	70696646	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.230000	0.51286	0.357000	0.24183	-0.797000	0.03246	CAG		0.567	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		12	23	0	0	0	1	0	12	23				
DNASE1L1	1774	broad.mit.edu	37	X	153631068	153631068	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chrX:153631068G>C	ENST00000393638.1	-	8	1175	c.889C>G	c.(889-891)Cag>Gag	p.Q297E	SNORA70_ENST00000384436.1_RNA|DNASE1L1_ENST00000369809.1_Missense_Mutation_p.Q297E	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	297					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGCACAGCTGAGGGGACAGG	0.652																																						ENST00000369809.1																			0				lung(6)	6						c.(889-891)Cag>Gag		deoxyribonuclease I-like 1							64.0	51.0	55.0					X																	153631068		2201	4299	6500	SO:0001583	missense	1774				DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters	g.chrX:153631068G>C	L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.889C>G	X.37:g.153631068G>C	ENSP00000377255:p.Gln297Glu					DNASE1L1_ENST00000393638.1_Missense_Mutation_p.Q297E	p.Q297E	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN			10	1518	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		297					D3DWW7|Q5HY41	Missense_Mutation	SNP	ENST00000393638.1	37	c.889C>G	CCDS14747.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401967	0.25291	.	.	ENSG00000013563	ENST00000369809;ENST00000393638;ENST00000014935;ENST00000369808;ENST00000369807;ENST00000309585;ENST00000447892	T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46	3.3	1.31	0.21738	.	2.685410	0.02212	N	0.063264	T	0.19087	0.0458	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.17623	-1.0363	10	0.44086	T	0.13	-6.7229	3.4105	0.07356	0.1714:0.2612:0.5674:0.0	.	297	P49184	DNSL1_HUMAN	E	297;297;297;297;297;297;84	ENSP00000358824:Q297E;ENSP00000377255:Q297E;ENSP00000014935:Q297E;ENSP00000358823:Q297E;ENSP00000358822:Q297E;ENSP00000309168:Q297E	ENSP00000014935:Q297E	Q	-	1	0	DNASE1L1	153284262	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.652000	0.24888	0.195000	0.20347	0.597000	0.82753	CAG		0.652	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080928.2			6	34	0	0	0	1	0	6	34				
PDE4DIP	9659	broad.mit.edu	37	1	144879256	144879256	+	Silent	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:144879256C>T	ENST00000369354.3	-	27	4383	c.4194G>A	c.(4192-4194)ctG>ctA	p.L1398L	PDE4DIP_ENST00000530740.1_Silent_p.L1534L|PDE4DIP_ENST00000369359.4_Silent_p.L1534L|PDE4DIP_ENST00000313382.9_Silent_p.L1354L|PDE4DIP_ENST00000369356.4_Silent_p.L1398L|PDE4DIP_ENST00000524974.1_5'UTR|AL138796.1_ENST00000582173.1_RNA|RP4-791M13.5_ENST00000531288.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1398					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAACAGCTCTCAGCTTCCAGG	0.537			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(4600-4602)ctG>ctA		phosphodiesterase 4D interacting protein							93.0	100.0	98.0					1																	144879256		2203	4300	6503	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879256C>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4194G>A	1.37:g.144879256C>T						PDE4DIP_ENST00000530740.1_Silent_p.L1534L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.L1398L|PDE4DIP_ENST00000369354.3_Silent_p.L1398L|PDE4DIP_ENST00000313382.9_Silent_p.L1354L	p.L1534L			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	30	4640	-			1398					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.4602G>A	CCDS30824.1																																																																																				0.537	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		10	100	0	0	0	1	0	10	100				
PCLO	27445	broad.mit.edu	37	7	82585411	82585411	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr7:82585411C>G	ENST00000333891.9	-	5	5195	c.4858G>C	c.(4858-4860)Gat>Cat	p.D1620H	PCLO_ENST00000423517.2_Missense_Mutation_p.D1620H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCATCTTCATCAATGCTTGTG	0.413																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(4858-4860)Gat>Cat		piccolo presynaptic cytomatrix protein							315.0	302.0	307.0					7																	82585411		2073	4203	6276	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585411C>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4858G>C	7.37:g.82585411C>G	ENSP00000334319:p.Asp1620His					PCLO_ENST00000333891.8_Missense_Mutation_p.D1620H	p.D1620H	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			5	5195	-			1551						Missense_Mutation	SNP	ENST00000333891.9	37	c.4858G>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359070	0.24598	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.19669	2.13;2.13	5.15	5.15	0.70609	.	.	.	.	.	T	0.44973	0.1319	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.976	T	0.41179	-0.9523	9	0.87932	D	0	.	18.629	0.91352	0.0:1.0:0.0:0.0	.	1620;1620	Q9Y6V0-5;Q9Y6V0-6	.;.	H	1551;1620;1620	ENSP00000334319:D1620H;ENSP00000388393:D1620H	ENSP00000334319:D1620H	D	-	1	0	PCLO	82423347	1.000000	0.71417	0.191000	0.23289	0.896000	0.52359	5.465000	0.66725	2.400000	0.81607	0.655000	0.94253	GAT		0.413	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		11	178	0	0	0	1	0	11	178				
ILF2	3608	broad.mit.edu	37	1	153634912	153634912	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:153634912G>C	ENST00000361891.4	-	14	1258	c.1133C>G	c.(1132-1134)cCt>cGt	p.P378R	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	378					immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctctccttgaggtggttcttc	0.488																																						ENST00000361891.4																			0				cervix(1)|kidney(1)|lung(4)|skin(1)	7						c.(1132-1134)cCt>cGt		interleukin enhancer binding factor 2							177.0	144.0	155.0					1																	153634912		2203	4300	6503	SO:0001583	missense	3608				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity	g.chr1:153634912G>C	U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.1133C>G	1.37:g.153634912G>C	ENSP00000355011:p.Pro378Arg					ILF2_ENST00000480213.1_5'UTR	p.P378R	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		14	1258	-	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		378					A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Missense_Mutation	SNP	ENST00000361891.4	37	c.1133C>G	CCDS1050.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490726	0.26686	.	.	ENSG00000143621	ENST00000361891	T	0.41065	1.01	5.38	5.38	0.77491	.	0.166529	0.53938	D	0.000055	T	0.39682	0.1087	L	0.34521	1.04	0.80722	D	1	D;D	0.58970	0.984;0.972	D;D	0.73380	0.98;0.954	T	0.06110	-1.0845	10	0.16896	T	0.51	-10.263	14.4958	0.67685	0.0:0.0:1.0:0.0	.	378;378	F4ZW62;Q12905	.;ILF2_HUMAN	R	378	ENSP00000355011:P378R	ENSP00000355011:P378R	P	-	2	0	ILF2	151901536	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.789000	0.69029	2.806000	0.96561	0.655000	0.94253	CCT		0.488	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090040.1	NM_004515		23	32	0	0	0	1	0	23	32				
ATR	545	broad.mit.edu	37	3	142280234	142280234	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:142280234C>G	ENST00000350721.4	-	5	1321	c.1200G>C	c.(1198-1200)ttG>ttC	p.L400F	ATR_ENST00000383101.3_Missense_Mutation_p.L400F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	400					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTCCATTTTCAAAGCTGCAT	0.348								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(1198-1200)ttG>ttC	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							135.0	122.0	127.0					3																	142280234		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142280234C>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.1200G>C	3.37:g.142280234C>G	ENSP00000343741:p.Leu400Phe					ATR_ENST00000383101.3_Missense_Mutation_p.L400F	p.L400F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			5	1321	-			400					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.1200G>C	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383737	0.61845	.	.	ENSG00000175054	ENST00000350721;ENST00000383101;ENST00000515149	T;T	0.08458	3.63;3.09	4.98	3.95	0.45737	Armadillo-type fold (1);	0.461226	0.20682	N	0.087621	T	0.15046	0.0363	L	0.32530	0.975	0.29536	N	0.852439	D	0.76494	0.999	D	0.85130	0.997	T	0.04454	-1.0950	10	0.72032	D	0.01	-9.2756	4.7981	0.13282	0.0:0.3954:0.0:0.6046	.	400	Q13535	ATR_HUMAN	F	400;400;81	ENSP00000343741:L400F;ENSP00000372581:L400F	ENSP00000343741:L400F	L	-	3	2	ATR	143762924	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.075000	0.41538	1.041000	0.40125	0.491000	0.48974	TTG		0.348	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		3	51	0	0	0	1	0	3	51				
FAM83B	222584	broad.mit.edu	37	6	54805384	54805384	+	Missense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr6:54805384C>T	ENST00000306858.7	+	5	1731	c.1615C>T	c.(1615-1617)Cgg>Tgg	p.R539W	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	539								p.R539W(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TACTCATTCTCGGCTTCGTTC	0.413																																						ENST00000306858.7																			1	Substitution - Missense(1)	p.R539W(1)	skin(1)	autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1615-1617)Cgg>Tgg		family with sequence similarity 83, member B							98.0	99.0	99.0					6																	54805384		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54805384C>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1615C>T	6.37:g.54805384C>T	ENSP00000304078:p.Arg539Trp						p.R539W	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	1731	+	Lung NSC(77;0.0178)|Renal(3;0.122)		539					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1615C>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.410809	0.62399	.	.	ENSG00000168143	ENST00000306858	T	0.34667	1.35	5.66	4.77	0.60923	.	0.000000	0.64402	D	0.000001	T	0.51346	0.1669	M	0.71581	2.175	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.59920	-0.7363	10	0.87932	D	0	-15.4269	15.828	0.78730	0.1408:0.8592:0.0:0.0	.	539	Q5T0W9	FA83B_HUMAN	W	539	ENSP00000304078:R539W	ENSP00000304078:R539W	R	+	1	2	FAM83B	54913343	0.997000	0.39634	0.985000	0.45067	0.996000	0.88848	2.264000	0.43302	1.466000	0.48025	0.655000	0.94253	CGG		0.413	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		3	51	0	0	0	1	0	3	51				
MAGI1	9223	broad.mit.edu	37	3	65376848	65376848	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr3:65376848C>T	ENST00000497477.2	-	14	2384	c.2385G>A	c.(2383-2385)tgG>tgA	p.W795*	MAGI1_ENST00000483466.1_Nonsense_Mutation_p.W795*|MAGI1_ENST00000330909.8_Nonsense_Mutation_p.W795*|MAGI1_ENST00000402939.2_Nonsense_Mutation_p.W795*			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	795					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TGGACTGGGCCCAGATTTTAA	0.537																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2383-2385)tgG>tgA		membrane associated guanylate kinase, WW and PDZ domain containing 1							86.0	88.0	88.0					3																	65376848		2203	4300	6503	SO:0001587	stop_gained	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65376848C>T	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2385G>A	3.37:g.65376848C>T	ENSP00000424369:p.Trp795*					MAGI1_ENST00000402939.2_Nonsense_Mutation_p.W795*|MAGI1_ENST00000483466.1_Nonsense_Mutation_p.W795*|MAGI1_ENST00000497477.2_Nonsense_Mutation_p.W795*	p.W795*	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	14	2384	-		Lung NSC(201;0.0016)	795					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Nonsense_Mutation	SNP	ENST00000497477.2	37	c.2385G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.090744|8.090744	0.98648|0.98648	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000460329|ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.72851|.	0.3512|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.64807|.	-0.6320|.	3|.	.|0.25751	.|T	.|0.34	-6.4057|-6.4057	20.5407|20.5407	0.99260|0.99260	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	E|X	676|795;795;691;670;795;795;581	.|.	.|ENSP00000331157:W795X	G|W	-|-	2|3	0|0	MAGI1|MAGI1	65351888|65351888	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.537	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		4	65	0	0	0	1	0	4	65				
RTTN	25914	broad.mit.edu	37	18	67813011	67813011	+	Missense_Mutation	SNP	G	G	A	rs375642538		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:67813011G>A	ENST00000255674.6	-	18	2604	c.2318C>T	c.(2317-2319)tCg>tTg	p.S773L	RTTN_ENST00000454359.1_Missense_Mutation_p.S773L|RTTN_ENST00000437017.1_Missense_Mutation_p.S773L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	773					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TAATGCTAGCGAACGGACCCT	0.383																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2317-2319)tCg>tTg		rotatin		G	LEU/SER	0,3686		0,0,1843	101.0	94.0	96.0		2318	2.0	0.0	18		96	1,8183		0,1,4091	no	missense	RTTN	NM_173630.3	145	0,1,5934	AA,AG,GG		0.0122,0.0,0.0084	benign	773/2227	67813011	1,11869	1843	4092	5935	SO:0001583	missense	25914						binding	g.chr18:67813011G>A	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.2318C>T	18.37:g.67813011G>A	ENSP00000255674:p.Ser773Leu					RTTN_ENST00000437017.1_Missense_Mutation_p.S773L|RTTN_ENST00000454359.1_Missense_Mutation_p.S773L	p.S773L	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			18	2604	-		Esophageal squamous(42;0.129)	773					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.2318C>T	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	G	2.757	-0.258836	0.05791	0.0	1.22E-4	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.64618	3.53;-0.07;-0.11	5.03	2.0	0.26442	Armadillo-like helical (1);Armadillo-type fold (1);	0.687987	0.14324	N	0.326815	T	0.48768	0.1518	L	0.47716	1.5	0.09310	N	1	B	0.21905	0.062	B	0.18561	0.022	T	0.31024	-0.9958	10	0.29301	T	0.29	.	5.7624	0.18207	0.1878:0.0:0.6555:0.1567	.	773	Q86VV8	RTTN_HUMAN	L	773	ENSP00000255674:S773L;ENSP00000402352:S773L;ENSP00000399520:S773L	ENSP00000255674:S773L	S	-	2	0	RTTN	65963991	0.004000	0.15560	0.006000	0.13384	0.013000	0.08279	1.366000	0.34193	1.070000	0.40811	0.591000	0.81541	TCG		0.383	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		18	88	0	0	0	1	0	18	88				
ATAD5	79915	broad.mit.edu	37	17	29185216	29185216	+	Missense_Mutation	SNP	G	G	C			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:29185216G>C	ENST00000321990.4	+	9	3209	c.2831G>C	c.(2830-2832)aGa>aCa	p.R944T	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	944					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAAGAAGTAAGAAATCTTTTG	0.303																																						ENST00000321990.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.(2830-2832)aGa>aCa		ATPase family, AAA domain containing 5							85.0	83.0	84.0					17																	29185216		2203	4300	6503	SO:0001583	missense	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29185216G>C		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.2831G>C	17.37:g.29185216G>C	ENSP00000313171:p.Arg944Thr					CTD-2349P21.11_ENST00000580873.1_RNA	p.R944T	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN			9	3209	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	944					Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	ENST00000321990.4	37	c.2831G>C	CCDS11260.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935214	0.34189	.	.	ENSG00000176208	ENST00000321990	D	0.87809	-2.3	5.97	4.99	0.66335	.	0.148539	0.64402	D	0.000018	D	0.90208	0.6939	M	0.71581	2.175	0.37329	D	0.909884	D;D	0.65815	0.991;0.995	P;P	0.59703	0.862;0.797	D	0.88314	0.2958	10	0.20046	T	0.44	.	12.4407	0.55623	0.133:0.0:0.867:0.0	.	944;944	Q96QE3-2;Q96QE3	.;ATAD5_HUMAN	T	944	ENSP00000313171:R944T	ENSP00000313171:R944T	R	+	2	0	ATAD5	26209342	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.988000	0.56951	2.823000	0.97156	0.591000	0.81541	AGA		0.303	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	NM_024857		3	41	0	0	0	1	0	3	41				
LRRC37B	114659	broad.mit.edu	37	17	30374836	30374836	+	Missense_Mutation	SNP	C	C	T	rs371734613		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr17:30374836C>T	ENST00000341671.7	+	9	2304	c.2299C>T	c.(2299-2301)Cgg>Tgg	p.R767W	LRRC37B_ENST00000584368.1_Missense_Mutation_p.R728W|LRRC37B_ENST00000394713.3_Missense_Mutation_p.R716W|LRRC37B_ENST00000543378.2_Missense_Mutation_p.R685W|LRRC37B_ENST00000327564.7_Missense_Mutation_p.R794W	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	767						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GTTACAAGCCCGGAAGCAGCA	0.493																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(2380-2382)Cgg>Tgg		leucine rich repeat containing 37B		C	TRP/ARG	0,4406		0,0,2203	128.0	132.0	131.0		2299	1.9	0.9	17		131	1,8599		0,1,4299	no	missense	LRRC37B	NM_052888.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	767/948	30374836	1,13005	2203	4300	6503	SO:0001583	missense	114659					integral to membrane		g.chr17:30374836C>T	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2299C>T	17.37:g.30374836C>T	ENSP00000340519:p.Arg767Trp					LRRC37B_ENST00000584368.1_Missense_Mutation_p.R728W|LRRC37B_ENST00000341671.7_Missense_Mutation_p.R767W|LRRC37B_ENST00000394713.3_Missense_Mutation_p.R716W|LRRC37B_ENST00000543378.2_Missense_Mutation_p.R685W	p.R794W			Q96QE4	LR37B_HUMAN			9	2441	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	767					Q17RC9|Q5YKG6	Missense_Mutation	SNP	ENST00000341671.7	37	c.2380C>T	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	8.613	0.889484	0.17540	0.0	1.16E-4	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	T;T;T;T	0.72942	-0.56;-0.7;0.35;-0.7	1.9	1.9	0.25705	.	.	.	.	.	T	0.80428	0.4621	M	0.74881	2.28	0.23537	N	0.99746	D;D	0.89917	0.963;1.0	B;D	0.74023	0.291;0.982	T	0.65681	-0.6109	9	0.87932	D	0	.	7.3404	0.26633	0.0:1.0:0.0:0.0	.	716;767	Q17RC9;Q96QE4	.;LR37B_HUMAN	W	685;794;716;767	ENSP00000443345:R685W;ENSP00000332536:R794W;ENSP00000378202:R716W;ENSP00000340519:R767W	ENSP00000332536:R794W	R	+	1	2	LRRC37B	27398949	0.528000	0.26314	0.932000	0.37286	0.096000	0.18686	0.592000	0.23984	1.377000	0.46286	0.440000	0.28878	CGG		0.493	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		10	191	0	0	0	1	0	10	191				
CTSC	1075	broad.mit.edu	37	11	88045588	88045588	+	Silent	SNP	G	G	A			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr11:88045588G>A	ENST00000227266.5	-	3	567	c.453C>T	c.(451-453)gtC>gtT	p.V151V		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	151					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTGCTATGTTGACATACACAT	0.418																																						ENST00000227266.5																			0				large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22	GRCh37	CI010698	CTSC	I		c.(451-453)gtC>gtT		cathepsin C							169.0	164.0	166.0					11																	88045588		2201	4299	6500	SO:0001819	synonymous_variant	1075				immune response	lysosome	cysteine-type endopeptidase activity	g.chr11:88045588G>A	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.453C>T	11.37:g.88045588G>A							p.V151V	NM_001814.4	NP_001805.3	P53634	CATC_HUMAN			3	567	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	151					A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Silent	SNP	ENST00000227266.5	37	c.453C>T	CCDS8282.1	.	.	.	.	.	.	.	.	.	.	g	4.250	0.045470	0.08196	.	.	ENSG00000109861	ENST00000527018	.	.	.	5.86	-6.37	0.01963	.	.	.	.	.	T	0.28101	0.0693	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38993	-0.9635	4	.	.	.	.	8.7408	0.34556	0.0834:0.1815:0.57:0.1652	.	.	.	.	L	108	.	.	S	-	2	0	CTSC	87685236	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.058000	0.03482	-0.684000	0.05183	-2.065000	0.00396	TCA		0.418	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	NM_001814		33	118	0	0	0	1	0	33	118				
PRKD2	25865	broad.mit.edu	37	19	47204144	47204144	+	Missense_Mutation	SNP	C	C	G			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr19:47204144C>G	ENST00000291281.4	-	7	1258	c.1033G>C	c.(1033-1035)Gag>Cag	p.E345Q	PRKD2_ENST00000600194.1_Missense_Mutation_p.E188Q|PRKD2_ENST00000601806.1_Missense_Mutation_p.E188Q|PRKD2_ENST00000595515.1_Missense_Mutation_p.E345Q|PRKD2_ENST00000433867.1_Missense_Mutation_p.E345Q			Q9BZL6	KPCD2_HUMAN	protein kinase D2	345					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		CCGGAGTCCTCTGACTCATCC	0.617																																						ENST00000433867.1																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(1033-1035)Gag>Cag		protein kinase D2							65.0	55.0	58.0					19																	47204144		2203	4300	6503	SO:0001583	missense	25865				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47204144C>G	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.1033G>C	19.37:g.47204144C>G	ENSP00000291281:p.Glu345Gln					PRKD2_ENST00000601806.1_Missense_Mutation_p.E188Q|PRKD2_ENST00000600194.1_Missense_Mutation_p.E188Q|PRKD2_ENST00000595515.1_Missense_Mutation_p.E345Q|PRKD2_ENST00000291281.4_Missense_Mutation_p.E345Q	p.E345Q	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349.1|NP_001073350.1|NP_057541.2	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	8	1510	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	345					Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000291281.4	37	c.1033G>C	CCDS12689.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037474	0.54896	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.66815	-0.23;-0.23	4.18	4.18	0.49190	.	0.220117	0.35407	N	0.003222	T	0.64349	0.2590	M	0.62723	1.935	0.34484	D	0.704246	B;B	0.15930	0.015;0.003	B;B	0.19946	0.027;0.011	T	0.72656	-0.4227	10	0.56958	D	0.05	-12.9433	13.8927	0.63750	0.0:1.0:0.0:0.0	.	345;345	E7ER94;Q9BZL6	.;KPCD2_HUMAN	Q	345	ENSP00000291281:E345Q;ENSP00000393978:E345Q	ENSP00000291281:E345Q	E	-	1	0	PRKD2	51895984	0.993000	0.37304	0.173000	0.22940	0.706000	0.40770	6.066000	0.71185	2.349000	0.79799	0.555000	0.69702	GAG		0.617	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		9	48	0	0	0	1	0	9	48				
WASF2	10163	broad.mit.edu	37	1	27744825	27744825	+	Frame_Shift_Del	DEL	C	C	-	rs150650907	byFrequency	TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr1:27744825delC	ENST00000430629.2	-	4	579	c.364delG	c.(364-366)gaafs	p.E122fs	WASF2_ENST00000536657.1_Frame_Shift_Del_p.E122fs	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	122					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TTGTATGTTTCTAAGACAGGC	0.443																																						ENST00000430629.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18						c.(364-366)aafs		WAS protein family, member 2							117.0	117.0	117.0					1																	27744825		2203	4297	6500	SO:0001589	frameshift_variant	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27744825delC	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.364delG	1.37:g.27744825delC	ENSP00000396211:p.Glu122fs					WASF2_ENST00000536657.1_Frame_Shift_Del_p.E122fs	p.E122fs	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	4	579	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	122					B4DZN0|O60794|Q9UDY7	Frame_Shift_Del	DEL	ENST00000430629.2	37	c.364delG	CCDS304.1																																																																																				0.443	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990		12	69						12	69	---	---	---	---
RAB2A	5862	broad.mit.edu	37	8	61533317	61533317	+	Frame_Shift_Del	DEL	G	G	-	rs374486741		TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr8:61533317delG	ENST00000262646.7	+	8	979	c.628delG	c.(628-630)ggcfs	p.G210fs	RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000531289.1_Frame_Shift_Del_p.G186fs|RAB2A_ENST00000529579.1_Frame_Shift_Del_p.A174fs	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	210					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			GGCTGGGGGCGGCTGCTGTTG	0.502																																						ENST00000262646.7																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(628-630)gcfs		RAB2A, member RAS oncogene family							65.0	74.0	71.0					8																	61533317		2203	4300	6503	SO:0001589	frameshift_variant	5862				ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity	g.chr8:61533317delG		CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"""RAB, member RAS oncogene"""	9763	protein-coding gene	gene with protein product		179509	"""RAB2, member RAS oncogene family"""	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.628delG	8.37:g.61533317delG	ENSP00000262646:p.Gly210fs					RAB2A_ENST00000531289.1_Frame_Shift_Del_p.G186fs|RAB2A_ENST00000529579.1_Frame_Shift_Del_p.A174fs|RAB2A_ENST00000530071.1_3'UTR	p.G210fs	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0805)		8	979	+			210					B2R5W8|B4DMQ5|P08886	Frame_Shift_Del	DEL	ENST00000262646.7	37	c.628delG	CCDS6175.1																																																																																				0.502	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259145.2			15	62						15	62	---	---	---	---
FAS	355	broad.mit.edu	37	10	90768732	90768732	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr10:90768732delG	ENST00000355279.2	+	4	421	c.421delG	c.(421-423)gaafs	p.E141fs	FAS_ENST00000357339.2_Frame_Shift_Del_p.E141fs|FAS_ENST00000355740.2_Frame_Shift_Del_p.E141fs|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000352159.4_Frame_Shift_Del_p.E141fs			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	TACTGTATGTGAACACTGTGA	0.373																																						ENST00000355740.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18						c.(421-423)aafs		Fas cell surface death receptor							353.0	380.0	371.0					10																	90768732		2203	4300	6503	SO:0001589	frameshift_variant	355				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	g.chr10:90768732delG	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.421delG	10.37:g.90768732delG	ENSP00000347426:p.Glu141fs					FAS_ENST00000313771.5_3'UTR|FAS_ENST00000352159.4_Frame_Shift_Del_p.E141fs|FAS_ENST00000355279.2_Frame_Shift_Del_p.E141fs|FAS_ENST00000357339.2_Frame_Shift_Del_p.E141fs	p.E141fs	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	4	641	+		Colorectal(252;0.0161)	141					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Frame_Shift_Del	DEL	ENST00000355279.2	37	c.421delG	CCDS7395.1																																																																																				0.373	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2			120	358						120	358	---	---	---	---
SOCS6	9306	broad.mit.edu	37	18	67992094	67992094	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KU-A6H7-01A-11D-A31L-08	TCGA-KU-A6H7-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07ebbb32-dc51-4e25-8421-af04946f07f9	51779779-e52a-4a47-b1ac-03447fdf0fbf	g.chr18:67992094delG	ENST00000397942.3	+	2	506	c.190delG	c.(190-192)ggafs	p.G64fs	SOCS6_ENST00000582322.1_Frame_Shift_Del_p.G64fs	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	64					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TGAAAAAGGCGGAAAAAACAG	0.468																																					Melanoma(84;1024 1361 24382 36583 42651)	ENST00000397942.3																			0				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22						c.(190-192)gafs		suppressor of cytokine signaling 6							99.0	101.0	100.0					18																	67992094		2203	4300	6503	SO:0001589	frameshift_variant	9306				defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm		g.chr18:67992094delG	AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.190delG	18.37:g.67992094delG	ENSP00000381034:p.Gly64fs					SOCS6_ENST00000582322.1_Frame_Shift_Del_p.G64fs	p.G64fs	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN			2	506	+		Esophageal squamous(42;0.129)|Colorectal(73;0.152)	64					Q8WUM3	Frame_Shift_Del	DEL	ENST00000397942.3	37	c.190delG	CCDS11998.1																																																																																				0.468	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256270.2			18	82						18	82	---	---	---	---
