#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
SLC35E2	9906	broad.mit.edu	37	1	1669760	1669760	+	Splice_Site	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:1669760C>A	ENST00000246421.4	-	4	1001	c.586G>T	c.(586-588)Gga>Tga	p.G196*	RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000400924.1_Splice_Site_p.G196*|SLC35E2_ENST00000355439.2_Splice_Site_p.G196*	NM_182838.2	NP_878258.1	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	196						integral component of membrane (GO:0016021)		p.G196*(1)		endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGGGCCTCACCTGTGTACTCC	0.647																																						uc001aib.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	pancreas(1)	1						c.(586-588)GGA>TGA		solute carrier family 35, member E2							34.0	36.0	35.0					1																	1669760		2200	4282	6482	SO:0001630	splice_region_variant	9906					integral to membrane		g.chr1:1669760C>A	AB007916	CCDS33.1, CCDS55560.1	1p36.33	2013-05-22			ENSG00000215790	ENSG00000215790		"""Solute carriers"""	20863	protein-coding gene	gene with protein product							Standard	NM_182838		Approved	KIAA0447	uc001aia.2	P0CK97	OTTHUMG00000000823	ENST00000246421.4:c.586+1G>T	1.37:g.1669760C>A						SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Missense_Mutation_p.G196W|SLC35E2_uc001ahy.2_Nonsense_Mutation_p.G196*|SLC35E2_uc001ahz.2_Nonsense_Mutation_p.G196*	p.G196*	NM_182838	NP_878258	P0CK97	S35E2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	4	1002	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	196					B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8	Nonsense_Mutation	SNP	ENST00000246421.4	37	c.586G>T	CCDS33.1	.	.	.	.	.	.	.	.	.	.	c	38	6.756477	0.97817	.	.	ENSG00000215790	ENST00000355439;ENST00000400924;ENST00000246421	.	.	.	2.89	2.89	0.33648	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-33.1972	13.2432	0.60008	0.0:1.0:0.0:0.0	.	.	.	.	X	196	.	.	G	-	1	0	SLC35E2	1659620	1.000000	0.71417	0.992000	0.48379	0.855000	0.48748	7.441000	0.80485	1.604000	0.50143	0.531000	0.56144	GGA		0.647	SLC35E2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000002210.3		XM_049733	Nonsense_Mutation	4	11	1	0	0.000602214	0.014758	0.000630224	4	11		
CAMTA1	23261	broad.mit.edu	37	1	7724195	7724195	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:7724195A>T	ENST00000303635.7	+	9	1795	c.1588A>T	c.(1588-1590)Aag>Tag	p.K530*	CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.K530*	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	530					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K530*(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CGTCCTCACCAAGGAGATCAA	0.637			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2		NaN		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(1588-1590)AAG>TAG		calmodulin-binding transcription activator 1							52.0	53.0	53.0					1																	7724195		2203	4300	6503	SO:0001587	stop_gained	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7724195A>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.1588A>T	1.37:g.7724195A>T	ENSP00000306522:p.Lys530*						p.K530*	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	9	1795	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	530					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Nonsense_Mutation	SNP	ENST00000303635.7	37	c.1588A>T	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	a	39	7.295073	0.98192	.	.	ENSG00000171735	ENST00000303635;ENST00000439411	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.4911	14.4738	0.67533	1.0:0.0:0.0:0.0	.	.	.	.	X	530	.	ENSP00000306522:K530X	K	+	1	0	CAMTA1	7646782	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.174000	0.77620	1.831000	0.53308	0.404000	0.27445	AAG		0.637	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3		NM_015215		5	59	0	0	0	0.021553	0	5	59		
EIF4G3	8672	broad.mit.edu	37	1	21221934	21221934	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:21221934T>C	ENST00000264211.8	-	11	2086	c.1892A>G	c.(1891-1893)gAc>gGc	p.D631G	EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000602326.1_Missense_Mutation_p.D637G|EIF4G3_ENST00000374937.3_Missense_Mutation_p.D637G|EIF4G3_ENST00000400422.1_Missense_Mutation_p.D631G|EIF4G3_ENST00000544689.1_Missense_Mutation_p.D174G|EIF4G3_ENST00000374935.3_Missense_Mutation_p.D351G|EIF4G3_ENST00000537738.1_Missense_Mutation_p.D84G|EIF4G3_ENST00000536266.1_Missense_Mutation_p.D235G	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	631					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.D631G(1)|p.D637G(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GAACTGGAAGTCCAGCAGAAA	0.463																																						uc001bec.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(1)	1						c.(1891-1893)GAC>GGC		eukaryotic translation initiation factor 4							111.0	110.0	110.0					1																	21221934		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21221934T>C	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1892A>G	1.37:g.21221934T>C	ENSP00000264211:p.Asp631Gly					EIF4G3_uc010odi.1_Missense_Mutation_p.D235G|EIF4G3_uc010odj.1_Missense_Mutation_p.D630G|EIF4G3_uc009vpz.2_Missense_Mutation_p.D351G|EIF4G3_uc001bed.2_Missense_Mutation_p.D631G|EIF4G3_uc001bef.2_Missense_Mutation_p.D630G|EIF4G3_uc001bee.2_Missense_Mutation_p.D637G	p.D631G	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	12	2148	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	631					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.1892A>G	CCDS214.1	.	.	.	.	.	.	.	.	.	.	T	9.358	1.067150	0.20067	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266;ENST00000374933;ENST00000544689	T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98	4.93	4.93	0.64822	.	0.180647	0.48767	D	0.000175	T	0.22666	0.0547	N	0.00436	-1.5	0.80722	D	1	B;B;B;D;B	0.69078	0.027;0.002;0.002;0.997;0.003	B;B;B;D;B	0.73380	0.018;0.002;0.003;0.98;0.008	T	0.45906	-0.9229	10	0.02654	T	1	-14.6131	9.4306	0.38608	0.0:0.0804:0.0:0.9196	.	826;351;235;637;631	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	G	631;827;631;351;84;637;235;174;174	ENSP00000264211:D631G;ENSP00000383274:D631G;ENSP00000364071:D351G;ENSP00000442010:D84G;ENSP00000364073:D637G;ENSP00000444693:D235G;ENSP00000444401:D174G	ENSP00000264211:D631G	D	-	2	0	EIF4G3	21094521	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	4.483000	0.60264	1.974000	0.57490	0.377000	0.23210	GAC		0.463	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3		NM_003760		7	72	0	0	0	0.004482	0	7	72		
EXTL1	2134	broad.mit.edu	37	1	26349162	26349162	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:26349162T>G	ENST00000374280.3	+	1	892	c.25T>G	c.(25-27)Tcc>Gcc	p.S9A		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	9					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)	p.S9A(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GAGAAGAAAGTCCCTGTGGCT	0.667																																						uc001blf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(25-27)TCC>GCC		exostoses-like 1							79.0	82.0	81.0					1																	26349162		2203	4300	6503	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349162T>G	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.25T>G	1.37:g.26349162T>G	ENSP00000363398:p.Ser9Ala						p.S9A	NM_004455	NP_004446	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	892	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	9			Cytoplasmic (Potential).		Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.25T>G	CCDS271.1	.	.	.	.	.	.	.	.	.	.	T	12.20	1.865852	0.32977	.	.	ENSG00000158008	ENST00000374280	D	0.94897	-3.55	5.25	-1.51	0.08664	.	0.529047	0.20339	N	0.094278	D	0.85894	0.5803	N	0.17674	0.51	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.74993	-0.3474	10	0.41790	T	0.15	-17.4436	6.7678	0.23576	0.0:0.1376:0.3484:0.514	.	9	Q92935	EXTL1_HUMAN	A	9	ENSP00000363398:S9A	ENSP00000363398:S9A	S	+	1	0	EXTL1	26221749	0.020000	0.18652	0.968000	0.41197	0.966000	0.64601	0.214000	0.17541	-0.140000	0.11394	0.496000	0.49642	TCC		0.667	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1		NM_004455		4	63	0	0	0	0.009096	0	4	63		
IQCC	55721	broad.mit.edu	37	1	32673403	32673403	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:32673403T>A	ENST00000291358.6	+	5	1142	c.1121T>A	c.(1120-1122)tTg>tAg	p.L374*	IQCC_ENST00000537469.1_Nonsense_Mutation_p.L454*|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA|DCDC2B_ENST00000409358.1_5'Flank	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	374								p.L374*(1)		endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACACAAGAGTTGGGCCTCTCA	0.532																																						uc001bum.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(4)	4						c.(1120-1122)TTG>TAG		IQ motif containing C isoform 2							81.0	88.0	85.0					1																	32673403		2203	4300	6503	SO:0001587	stop_gained	55721							g.chr1:32673403T>A	AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.1121T>A	1.37:g.32673403T>A	ENSP00000291358:p.Leu374*					IQCC_uc009vua.2_Nonsense_Mutation_p.L454*|IQCC_uc010ogz.1_Nonsense_Mutation_p.L274*|DCDC2B_uc001bun.2_5'Flank	p.L374*	NM_018134	NP_060604	Q4KMZ1	IQCC_HUMAN			5	1168	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	374					F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Nonsense_Mutation	SNP	ENST00000291358.6	37	c.1121T>A	CCDS355.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.461668	0.43736	.	.	ENSG00000160051	ENST00000537469;ENST00000291358	.	.	.	3.71	-1.44	0.08856	.	1.884850	0.02963	N	0.143373	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	8.6325	7.742	0.28848	0.0:0.5492:0.0:0.4508	.	.	.	.	X	454;374	.	ENSP00000291358:L374X	L	+	2	0	IQCC	32445990	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	0.033000	0.13754	-0.261000	0.09405	0.402000	0.26972	TTG		0.532	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015731.3		NM_018134		13	120	0	0	0	0.016723	0	13	120		
TMEM234	56063	broad.mit.edu	37	1	32690056	32690056	+	5'Flank	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:32690056G>C	ENST00000344461.3	-	0	0				TMEM234_ENST00000373593.1_5'Flank|TMEM234_ENST00000545122.1_5'Flank|EIF3I_ENST00000373586.1_Missense_Mutation_p.R77P|TMEM234_ENST00000309777.6_5'Flank|EIF3I_ENST00000471486.1_3'UTR			Q8WY98	TM234_HUMAN	transmembrane protein 234							integral component of membrane (GO:0016021)		p.R77P(1)		kidney(2)|lung(3)	5						AACAGCTGTCGTCTCTGGGAC	0.473																																						uc001bur.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(229-231)CGT>CCT		eukaryotic translation initiation factor 3,							100.0	90.0	93.0					1																	32690056		2203	4300	6503	SO:0001631	upstream_gene_variant	8668					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr1:32690056G>C	AY358586	CCDS356.2	1p36.11-p34.2	2011-02-14	2011-02-14	2011-02-14	ENSG00000160055	ENSG00000160055			28837	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 91"""	C1orf91		12477932	Standard	XM_005271045		Approved	RP4-622L5, dJ622L5.7, FLJ90779	uc001buq.4	Q8WY98	OTTHUMG00000005742		1.37:g.32690056G>C	Exception_encountered					C1orf91_uc001buo.3_5'Flank|C1orf91_uc001bup.3_5'Flank|C1orf91_uc009vub.1_5'Flank|C1orf91_uc010oha.1_5'Flank|C1orf91_uc001buq.3_5'Flank|EIF3I_uc009vuc.2_Missense_Mutation_p.R77P|EIF3I_uc001bus.2_Missense_Mutation_p.R29P	p.R77P	NM_003757	NP_003748	Q13347	EIF3I_HUMAN			5	763	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)	77			WD 2.		B2R535|D3DPP7|Q6UWY9|Q8N2H6|Q9BSR2|Q9NU76	Missense_Mutation	SNP	ENST00000344461.3	37	c.230G>C		.	.	.	.	.	.	.	.	.	.	G	27.1	4.798516	0.90538	.	.	ENSG00000084623	ENST00000355082;ENST00000373586	T;T	0.68331	-0.32;-0.32	4.48	4.48	0.54585	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.049571	0.85682	D	0.000000	D	0.83691	0.5309	M	0.87682	2.9	0.58432	D	0.999997	D	0.58970	0.984	D	0.66847	0.947	D	0.87285	0.2295	10	0.87932	D	0	-13.1077	18.0984	0.89498	0.0:0.0:1.0:0.0	.	77	Q13347	EIF3I_HUMAN	P	77	ENSP00000347194:R77P;ENSP00000362688:R77P	ENSP00000347194:R77P	R	+	2	0	EIF3I	32462643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.940000	0.92958	2.443000	0.82685	0.650000	0.86243	CGT		0.473	TMEM234-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000092260.2		NM_019118		4	50	0	0	0	0.014758	0	4	50		
MAP7D1	55700	broad.mit.edu	37	1	36636690	36636690	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:36636690G>T	ENST00000373151.2	+	2	381	c.165G>T	c.(163-165)atG>atT	p.M55I	MAP7D1_ENST00000316156.4_Missense_Mutation_p.M55I|MAP7D1_ENST00000373150.4_Missense_Mutation_p.M55I	NM_018067.3	NP_060537.3	Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	55	Pro-rich.				microtubule cytoskeleton organization (GO:0000226)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)		p.M55I(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CTCCTGCCATGAAGAATGCCA	0.652																																						uc001bzz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(2)	5						c.(163-165)ATG>ATT		MAP7 domain containing 1							53.0	59.0	57.0					1																	36636690		2203	4300	6503	SO:0001583	missense	55700					cytoplasm|spindle		g.chr1:36636690G>T	AK096341	CCDS30673.1, CCDS65492.1, CCDS65493.1	1p34.3	2008-02-05	2007-02-08	2007-02-08	ENSG00000116871	ENSG00000116871			25514	protein-coding gene	gene with protein product			"""proline arginine rich coiled coil 1"", ""arginine/proline rich coiled-coil 1"""	PARCC1, RPRC1		10574461	Standard	XM_005271024		Approved	FLJ10350, FLJ39022	uc001bzz.3	Q3KQU3	OTTHUMG00000007714	ENST00000373151.2:c.165G>T	1.37:g.36636690G>T	ENSP00000362244:p.Met55Ile					MAP7D1_uc001caa.2_Missense_Mutation_p.M55I|MAP7D1_uc001cab.2_Missense_Mutation_p.M55I|MAP7D1_uc001cac.2_5'Flank	p.M55I	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN			2	381	+		Myeloproliferative disorder(586;0.0393)	55			Pro-rich.		D3DPS4|Q7L8J5|Q8N905|Q8TAK0|Q9HBQ2|Q9NW29|Q9ULN3	Missense_Mutation	SNP	ENST00000373151.2	37	c.165G>T	CCDS30673.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.627230	0.46944	.	.	ENSG00000116871	ENST00000429533;ENST00000316156;ENST00000373150;ENST00000373151;ENST00000530729	T;T;T;T;T	0.04862	3.54;3.54;3.54;3.54;3.54	4.74	4.74	0.60224	.	0.130653	0.35349	N	0.003268	T	0.05640	0.0148	L	0.29908	0.895	0.80722	D	1	B;B;B	0.30973	0.073;0.073;0.302	B;B;B	0.24006	0.033;0.022;0.05	T	0.46596	-0.9180	10	0.29301	T	0.29	-14.0987	14.9178	0.70812	0.0:0.0:1.0:0.0	.	55;55;55	Q3KQU3-2;Q3KQU3-4;Q3KQU3	.;.;MA7D1_HUMAN	I	16;55;55;55;16	ENSP00000390091:M16I;ENSP00000320228:M55I;ENSP00000362243:M55I;ENSP00000362244:M55I;ENSP00000435126:M16I	ENSP00000320228:M55I	M	+	3	0	MAP7D1	36409277	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.052000	0.49893	2.631000	0.89168	0.462000	0.41574	ATG		0.652	MAP7D1-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382095.1		NM_018067		9	88	1	0	2.74318e-10	0.006214	3.12514e-10	9	88		
KTI12	112970	broad.mit.edu	37	1	52499087	52499087	+	Missense_Mutation	SNP	C	C	T	rs563103084|rs377187997	byFrequency	TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:52499087C>T	ENST00000371614.1	-	1	401	c.347G>A	c.(346-348)gGa>gAa	p.G116E	TXNDC12_ENST00000371626.4_Intron|RP11-91A18.4_ENST00000425802.1_RNA	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	116							ATP binding (GO:0005524)	p.G116E(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CACCTGAGGTCCCGCGATCGG	0.701																																						uc001ctj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(346-348)GGA>GAA		KTI12 homolog, chromatin associated							29.0	35.0	33.0					1																	52499087		2192	4275	6467	SO:0001583	missense	112970						ATP binding	g.chr1:52499087C>T		CCDS562.1	1p32.3	2008-02-05			ENSG00000198841	ENSG00000198841			25160	protein-coding gene	gene with protein product						11929532	Standard	NM_138417		Approved	TOT4, MGC20419, SBBI81	uc001ctj.1	Q96EK9	OTTHUMG00000008630	ENST00000371614.1:c.347G>A	1.37:g.52499087C>T	ENSP00000360676:p.Gly116Glu					TXNDC12_uc001cti.2_Intron	p.G116E	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN			1	386	-			116						Missense_Mutation	SNP	ENST00000371614.1	37	c.347G>A	CCDS562.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762899	0.31228	.	.	ENSG00000198841	ENST00000371614	T	0.39592	1.07	4.93	-1.65	0.08291	.	.	.	.	.	T	0.20292	0.0488	L	0.33485	1.01	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31888	-0.9927	9	0.02654	T	1	.	1.5626	0.02598	0.1375:0.3268:0.1342:0.4015	.	116	Q96EK9	KTI12_HUMAN	E	116	ENSP00000360676:G116E	ENSP00000360676:G116E	G	-	2	0	KTI12	52271675	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.924000	0.03996	-0.512000	0.06505	-0.824000	0.03097	GGA		0.701	KTI12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023821.1		NM_138417		5	65	0	0	0	0.021553	0	5	65		
SCP2	6342	broad.mit.edu	37	1	53504595	53504595	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:53504595G>A	ENST00000528311.1	+	13	1398	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	SCP2_ENST00000408941.3_Intron|SCP2_ENST00000430330.2_Missense_Mutation_p.E42K|SCP2_ENST00000371509.4_Missense_Mutation_p.E405K|SCP2_ENST00000488965.1_Intron|SCP2_ENST00000371514.3_Missense_Mutation_p.E449K|SCP2_ENST00000407246.2_Missense_Mutation_p.E425K|SCP2_ENST00000435345.2_Missense_Mutation_p.E45K	NM_001193617.1	NP_001180546.1	Q9BX26	SYCP2_HUMAN	sterol carrier protein 2	1241					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.E449K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						CCAGGAAGGGGAACAGTTTGT	0.423																																						uc001cur.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(1345-1347)GAA>AAA		sterol carrier protein 2 isoform 1 proprotein							130.0	139.0	136.0					1																	53504595		2203	4300	6503	SO:0001583	missense	6342				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding	g.chr1:53504595G>A	M75884	CCDS572.1, CCDS30719.1, CCDS41338.1, CCDS44149.1, CCDS44150.1, CCDS53317.1, CCDS53318.1, CCDS53319.1	1p32	2010-08-20			ENSG00000116171	ENSG00000116171			10606	protein-coding gene	gene with protein product		184755				1703300, 1718316	Standard	NM_001007098		Approved		uc001cur.2	P22307	OTTHUMG00000008936	ENST00000528311.1:c.1102G>A	1.37:g.53504595G>A	ENSP00000434132:p.Glu368Lys					SCP2_uc001cus.1_RNA|SCP2_uc010ono.1_Missense_Mutation_p.E368K|SCP2_uc010onp.1_Missense_Mutation_p.E425K|SCP2_uc009vzi.1_Missense_Mutation_p.E405K|SCP2_uc010onq.1_Missense_Mutation_p.E45K|SCP2_uc001cut.1_Missense_Mutation_p.E42K|SCP2_uc001cuu.1_Intron	p.E449K	NM_002979	NP_002970	P22307	NLTP_HUMAN			14	1466	+			449			SCP2.		A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000528311.1	37	c.1345G>A	CCDS53319.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.8|21.8	4.196233|4.196233	0.78902|0.78902	.|.	.|.	ENSG00000116171|ENSG00000116171	ENST00000371514;ENST00000528311;ENST00000371509;ENST00000407246;ENST00000430330;ENST00000435345|ENST00000478274	T;T;T;T;T;T|T	0.20881|0.21031	2.04;2.04;2.04;2.04;2.04;2.04|2.03	5.43|5.43	5.43|5.43	0.79202|0.79202	SCP2 sterol-binding domain (2);|.	0.053257|.	0.64402|.	D|.	0.000001|.	T|T	0.30135|0.30135	0.0755|0.0755	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;B;B;B;B|.	0.58268|.	0.982;0.03;0.101;0.269;0.03|.	D;B;B;B;B|.	0.63192|.	0.912;0.073;0.232;0.349;0.073|.	T|T	0.01036|0.01036	-1.1473|-1.1473	10|7	0.62326|0.48119	D|T	0.03|0.1	-17.3396|-17.3396	18.0022|18.0022	0.89200|0.89200	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	45;425;405;42;449|.	B4E0J3;C9JC79;A6NM69;E1B6W5;P22307|.	.;.;.;.;NLTP_HUMAN|.	K|E	449;368;405;425;42;45|63	ENSP00000360569:E449K;ENSP00000434132:E368K;ENSP00000360564:E405K;ENSP00000384569:E425K;ENSP00000406636:E42K;ENSP00000396413:E45K|ENSP00000437317:G63E	ENSP00000360564:E405K|ENSP00000437317:G63E	E|G	+|+	1|2	0|0	SCP2|SCP2	53277183|53277183	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.596000|8.596000	0.90844|0.90844	2.567000|2.567000	0.86603|0.86603	0.555000|0.555000	0.69702|0.69702	GAA|GGA		0.423	SCP2-010	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387558.1		NM_002979		10	110	0	0	0	0.010729	0	10	110		
C1orf146	388649	broad.mit.edu	37	1	92709803	92709803	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:92709803G>A	ENST00000370375.3	+	4	338	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	C1orf146_ENST00000370373.2_Missense_Mutation_p.E5K	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	64								p.E64K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		GGATACTAAGGAATGTCTTCT	0.299																																						uc001doq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(190-192)GAA>AAA		hypothetical protein LOC388649							42.0	46.0	44.0					1																	92709803		2201	4298	6499	SO:0001583	missense	388649							g.chr1:92709803G>A		CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.190G>A	1.37:g.92709803G>A	ENSP00000359401:p.Glu64Lys					C1orf146_uc010ote.1_Missense_Mutation_p.E5K	p.E64K	NM_001012425	NP_001012425	Q5VVC0	CA146_HUMAN		all cancers(265;0.00846)|Epithelial(280;0.0952)	4	262	+		all_lung(203;0.00528)|Lung NSC(277;0.0193)	64					Q5VVC4	Missense_Mutation	SNP	ENST00000370375.3	37	c.190G>A	CCDS30772.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.230367	0.39399	.	.	ENSG00000203910	ENST00000370375;ENST00000370373	.	.	.	5.64	4.73	0.59995	.	0.296315	0.31279	N	0.007935	T	0.26484	0.0647	L	0.29908	0.895	0.32003	N	0.60306	B	0.10296	0.003	B	0.11329	0.006	T	0.20273	-1.0280	9	0.54805	T	0.06	-4.4908	14.9857	0.71345	0.0679:0.0:0.9321:0.0	.	64	Q5VVC0	CA146_HUMAN	K	64;43	.	ENSP00000359399:E43K	E	+	1	0	C1orf146	92482391	1.000000	0.71417	1.000000	0.80357	0.170000	0.22686	3.981000	0.56902	1.627000	0.50400	0.650000	0.86243	GAA		0.299	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028364.1		NM_001012425		6	42	0	0	0	0.021553	0	6	42		
NTNG1	22854	broad.mit.edu	37	1	107937933	107937933	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:107937933G>C	ENST00000370068.1	+	4	1891	c.1045G>C	c.(1045-1047)Ggc>Cgc	p.G349R	NTNG1_ENST00000370065.1_Missense_Mutation_p.G349R|NTNG1_ENST00000370074.4_Missense_Mutation_p.G349R|NTNG1_ENST00000542803.1_Missense_Mutation_p.G349R|NTNG1_ENST00000370073.2_Missense_Mutation_p.G349R|NTNG1_ENST00000370061.3_Missense_Mutation_p.G349R|NTNG1_ENST00000370070.2_Missense_Mutation_p.G349R|NTNG1_ENST00000370066.1_Missense_Mutation_p.G349R|NTNG1_ENST00000370071.2_Missense_Mutation_p.G349R|NTNG1_ENST00000370067.1_Missense_Mutation_p.G349R|NTNG1_ENST00000370072.3_Missense_Mutation_p.G349R			Q9Y2I2	NTNG1_HUMAN	netrin G1	349	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.G349R(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CATCCCCAAAGGCACTGCAAA	0.453																																						uc001dvh.3		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	large_intestine(2)|ovary(2)|skin(2)	6						c.(1045-1047)GGC>CGC		netrin G1 isoform 1							149.0	150.0	149.0					1																	107937933		2203	4300	6503	SO:0001583	missense	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107937933G>C	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.1045G>C	1.37:g.107937933G>C	ENSP00000359085:p.Gly349Arg					NTNG1_uc001dvf.3_Missense_Mutation_p.G349R|NTNG1_uc010out.1_Missense_Mutation_p.G349R|NTNG1_uc001dvc.3_Missense_Mutation_p.G349R|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_Missense_Mutation_p.R21T|NTNG1_uc001dvd.1_Missense_Mutation_p.G349R	p.G349R	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	4	1763	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	349			Laminin EGF-like 1.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	c.1045G>C	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.030211	0.75504	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370064;ENST00000370062;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.74106	0.74;-0.39;0.64;0.07;0.0;-0.59;-0.81;0.74;-0.58;-0.39;0.13	5.8	4.89	0.63831	EGF-like, laminin (2);	0.000000	0.64402	D	0.000007	T	0.74635	0.3742	L	0.37800	1.135	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.994;1.0;1.0	T	0.77739	-0.2475	10	0.49607	T	0.09	.	14.8573	0.70347	0.0687:0.0:0.9313:0.0	.	349;349;349;349;349	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	R	349;349;349;349;349;349;349;349;110;110;349;349;349;349;349;349	ENSP00000359090:G349R;ENSP00000359088:G349R;ENSP00000440561:G349R;ENSP00000359078:G349R;ENSP00000359089:G349R;ENSP00000359087:G349R;ENSP00000359091:G349R;ENSP00000359085:G349R;ENSP00000359084:G349R;ENSP00000359083:G349R;ENSP00000359082:G349R	ENSP00000294649:G349R	G	+	1	0	NTNG1	107739456	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	1.471000	0.48121	0.650000	0.86243	GGC		0.453	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1		NM_014917		6	94	0	0	0	0.02938	0	6	94		
STXBP3	6814	broad.mit.edu	37	1	109342863	109342863	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:109342863G>A	ENST00000370008.3	+	17	1521	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	491					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)	p.D491N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TAATAGATTAGATTCAAAAGA	0.338																																						uc001dvy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|central_nervous_system(1)	4						c.(1471-1473)GAT>AAT		syntaxin binding protein 3							88.0	88.0	88.0					1																	109342863		2203	4298	6501	SO:0001583	missense	6814				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	g.chr1:109342863G>A	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1471G>A	1.37:g.109342863G>A	ENSP00000359025:p.Asp491Asn					STXBP3_uc001dvz.2_RNA	p.D491N	NM_007269	NP_009200	O00186	STXB3_HUMAN		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	17	1546	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	491					A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	37	c.1471G>A	CCDS790.1	.	.	.	.	.	.	.	.	.	.	G	34	5.382241	0.95967	.	.	ENSG00000116266	ENST00000370008	T	0.78003	-1.14	5.4	5.4	0.78164	.	0.042139	0.85682	D	0.000000	D	0.84306	0.5443	M	0.86028	2.79	0.80722	D	1	P	0.51537	0.946	P	0.53062	0.717	D	0.86112	0.1563	10	0.56958	D	0.05	-18.7523	19.1553	0.93507	0.0:0.0:1.0:0.0	.	491	O00186	STXB3_HUMAN	N	491	ENSP00000359025:D491N	ENSP00000359025:D491N	D	+	1	0	STXBP3	109144386	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.075000	0.94004	2.544000	0.85801	0.484000	0.47621	GAT		0.338	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1		NM_007269		9	42	0	0	0	0.004482	0	9	42		
MAGI3	260425	broad.mit.edu	37	1	114201796	114201796	+	Silent	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:114201796G>C	ENST00000307546.9	+	16	2799	c.2724G>C	c.(2722-2724)ggG>ggC	p.G908G	MAGI3_ENST00000369615.1_Silent_p.G908G|MAGI3_ENST00000369611.4_Silent_p.G908G|MAGI3_ENST00000369617.4_Silent_p.G933G	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	933	Interaction with LPAR2 and GRIN2B.|PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)	p.G908G(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTGAATGGGCAGTCCATTG	0.453																																						uc001edk.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(2722-2724)GGG>GGC		membrane-associated guanylate kinase-related  3							152.0	139.0	143.0					1																	114201796		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114201796G>C	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2724G>C	1.37:g.114201796G>C						MAGI3_uc001edh.3_Silent_p.G933G|MAGI3_uc001edi.3_Silent_p.G908G|MAGI3_uc010owm.1_Silent_p.G933G|MAGI3_uc001edj.2_Silent_p.G629G	p.G908G	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	16	2905	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	933			Interaction with LPAR2 and GRIN2B.|PDZ 5.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.2724G>C	CCDS44196.1																																																																																				0.453	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1		NM_152900		11	93	0	0	0	0.008291	0	11	93		
SLC22A15	55356	broad.mit.edu	37	1	116569600	116569600	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:116569600A>G	ENST00000369503.4	+	5	815	c.685A>G	c.(685-687)Att>Gtt	p.I229V	SLC22A15_ENST00000369502.1_Missense_Mutation_p.I229V	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	229					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)	p.I229V(2)		endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GACCCTAGCCATTCTGGTTAA	0.433																																						uc001egb.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	large_intestine(2)	2						c.(685-687)ATT>GTT		solute carrier family 22, member 15							134.0	126.0	129.0					1																	116569600		1851	4095	5946	SO:0001583	missense	55356				ion transport	integral to membrane	transmembrane transporter activity	g.chr1:116569600A>G	AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.685A>G	1.37:g.116569600A>G	ENSP00000358515:p.Ile229Val					SLC22A15_uc001ega.2_Missense_Mutation_p.I229V	p.I229V	NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	5	815	+	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)	229			Helical; (Potential).		A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	ENST00000369503.4	37	c.685A>G	CCDS44198.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.145739	0.00328	.	.	ENSG00000163393	ENST00000369503;ENST00000369502	T;T	0.58210	0.35;0.35	5.05	-10.1	0.00402	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.044160	0.07423	N	0.894402	T	0.09291	0.0229	N	0.16307	0.4	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.07214	-1.0784	10	0.32370	T	0.25	.	4.9998	0.14259	0.5375:0.1743:0.1996:0.0886	.	229;229	Q8IZD6;Q8IZD6-2	S22AF_HUMAN;.	V	229	ENSP00000358515:I229V;ENSP00000358514:I229V	ENSP00000358514:I229V	I	+	1	0	SLC22A15	116371123	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.484000	0.06528	-2.763000	0.00369	-0.755000	0.03482	ATT		0.433	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033220.2		NM_018420		8	105	0	0	0	0.00308	0	8	105		
GATAD2B	57459	broad.mit.edu	37	1	153792155	153792155	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:153792155T>C	ENST00000368655.4	-	3	635	c.392A>G	c.(391-393)aAt>aGt	p.N131S		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	131					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.N131S(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAAGCCTCATTGTCAGACAA	0.398																																						uc001fdb.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(391-393)AAT>AGT		GATA zinc finger domain containing 2B							113.0	117.0	115.0					1																	153792155		2203	4300	6503	SO:0001583	missense	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153792155T>C	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.392A>G	1.37:g.153792155T>C	ENSP00000357644:p.Asn131Ser						p.N131S	NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		3	636	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		131					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Missense_Mutation	SNP	ENST00000368655.4	37	c.392A>G	CCDS1054.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.351729	0.82132	.	.	ENSG00000143614	ENST00000368655	T	0.37584	1.19	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.38374	0.1038	L	0.45137	1.4	0.80722	D	1	D	0.63880	0.993	D	0.65443	0.935	T	0.09952	-1.0651	10	0.32370	T	0.25	-1.2747	14.1085	0.65107	0.0:0.0:0.0:1.0	.	131	Q8WXI9	P66B_HUMAN	S	131	ENSP00000357644:N131S	ENSP00000357644:N131S	N	-	2	0	GATAD2B	152058779	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.412000	0.80091	2.167000	0.68274	0.455000	0.32223	AAT		0.398	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1		NM_020699		13	90	0	0	0	0.020292	0	13	90		
ASH1L	55870	broad.mit.edu	37	1	155449667	155449667	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:155449667C>G	ENST00000368346.3	-	3	3633	c.2994G>C	c.(2992-2994)ttG>ttC	p.L998F	ASH1L_ENST00000392403.3_Missense_Mutation_p.L998F			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	998					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.L998F(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GAATCTGATTCAACAGTTTCT	0.313																																						uc009wqq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(2992-2994)TTG>TTC		absent, small, or homeotic 1-like							52.0	56.0	55.0					1																	155449667		2201	4299	6500	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155449667C>G	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.2994G>C	1.37:g.155449667C>G	ENSP00000357330:p.Leu998Phe					ASH1L_uc001fkt.2_Missense_Mutation_p.L998F|ASH1L_uc009wqr.1_Missense_Mutation_p.L998F	p.L998F	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	3474	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		998					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.2994G>C		.	.	.	.	.	.	.	.	.	.	C	13.39	2.223254	0.39300	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.94966	-3.57;-3.57	5.31	4.4	0.53042	.	0.000000	0.64402	D	0.000004	D	0.93190	0.7831	L	0.29908	0.895	0.80722	D	1	D;D	0.65815	0.991;0.995	P;D	0.66497	0.881;0.944	D	0.94497	0.7706	10	0.72032	D	0.01	.	13.663	0.62378	0.0:0.9252:0.0:0.0748	.	998;998	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	F	998	ENSP00000357330:L998F;ENSP00000376204:L998F	ENSP00000357330:L998F	L	-	3	2	ASH1L	153716291	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.486000	0.45259	1.472000	0.48140	0.650000	0.86243	TTG		0.313	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1		NM_018489		5	75	0	0	0	0.014758	0	5	75		
APOA1BP	128240	broad.mit.edu	37	1	156563828	156563828	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:156563828G>A	ENST00000368234.3	+	6	806	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	GPATCH4_ENST00000497287.1_5'Flank|APOA1BP_ENST00000368235.3_Silent_p.L273L					apolipoprotein A-I binding protein									p.L273L(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGTACCAGCTGAACCTGCCAC	0.547																																						uc001fph.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(817-819)CTG>CTA		apolipoprotein A-I binding protein precursor							82.0	77.0	79.0					1																	156563828		2203	4300	6503	SO:0001583	missense	128240					extracellular region	protein binding	g.chr1:156563828G>A	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368234.3:c.763G>A	1.37:g.156563828G>A	ENSP00000357217:p.Glu255Lys					APOA1BP_uc001fpg.2_3'UTR|APOA1BP_uc001fpi.2_Missense_Mutation_p.E255K|APOA1BP_uc001fpj.2_Silent_p.L190L|APOA1BP_uc001fpk.2_Silent_p.L170L|APOA1BP_uc010php.1_Silent_p.L170L	p.L273L	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN			6	858	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		273			YjeF N-terminal.			Silent	SNP	ENST00000368234.3	37	c.819G>A		.	.	.	.	.	.	.	.	.	.	G	17.26	3.344626	0.61073	.	.	ENSG00000163382	ENST00000368234	T	0.54071	0.59	5.29	3.39	0.38822	.	.	.	.	.	T	0.18923	0.0454	.	.	.	0.80722	D	1	B	0.33549	0.417	B	0.28553	0.091	T	0.03695	-1.1012	8	0.27082	T	0.32	-18.4793	8.3446	0.32266	0.0803:0.2968:0.6229:0.0	.	255	Q5T3I3	.	K	255	ENSP00000357217:E255K	ENSP00000357217:E255K	E	+	1	0	APOA1BP	154830452	0.975000	0.34042	0.995000	0.50966	0.984000	0.73092	0.172000	0.16704	0.593000	0.29745	0.563000	0.77884	GAA		0.547	APOA1BP-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000081045.1		NM_144772		7	106	0	0	0	0.008291	0	7	106		
ARHGAP30	257106	broad.mit.edu	37	1	161018826	161018826	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:161018826T>C	ENST00000368013.3	-	12	2305	c.1985A>G	c.(1984-1986)cAg>cGg	p.Q662R	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.Q485R|ARHGAP30_ENST00000368016.3_Missense_Mutation_p.Q662R	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	662	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.Q662R(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGGCTCAGCCTGCTTGTCCTC	0.617																																						uc001fxl.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(1984-1986)CAG>CGG		Rho GTPase activating protein 30 isoform 1							153.0	141.0	145.0					1																	161018826		2203	4300	6503	SO:0001583	missense	257106				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr1:161018826T>C	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.1985A>G	1.37:g.161018826T>C	ENSP00000356992:p.Gln662Arg					ARHGAP30_uc001fxk.2_Missense_Mutation_p.Q662R|ARHGAP30_uc001fxm.2_Missense_Mutation_p.Q508R|ARHGAP30_uc009wtx.2_Missense_Mutation_p.Q335R|ARHGAP30_uc001fxn.1_Missense_Mutation_p.Q508R	p.Q662R	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00122)		12	2331	-	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		662			Glu-rich.		Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	c.1985A>G	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	T	2.975	-0.211633	0.06140	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368015	T;T;T	0.28895	3.08;3.13;1.59	5.09	-0.514	0.11958	.	0.268896	0.26227	N	0.025594	T	0.03739	0.0106	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33954	-0.9848	10	0.41790	T	0.15	.	2.8337	0.05507	0.3556:0.2793:0.0:0.3651	.	662;662	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	R	662;662;485	ENSP00000356995:Q662R;ENSP00000356992:Q662R;ENSP00000356994:Q485R	ENSP00000356992:Q662R	Q	-	2	0	ARHGAP30	159285450	0.000000	0.05858	0.004000	0.12327	0.060000	0.15804	-0.187000	0.09656	0.252000	0.21531	0.397000	0.26171	CAG		0.617	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2		NM_181720		26	145	0	0	0	0.024334	0	26	145		
FMO4	2329	broad.mit.edu	37	1	171303803	171303803	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:171303803G>C	ENST00000367749.3	+	8	1411	c.1081G>C	c.(1081-1083)Gag>Cag	p.E361Q		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	361					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.E361Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTTAAACCTAGAGAGAGCGAC	0.403																																					Pancreas(24;816 862 7754 7993 32832)	uc001gho.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(2)|skin(1)	3						c.(1081-1083)GAG>CAG		flavin containing monooxygenase 4							88.0	89.0	89.0					1																	171303803		2203	4300	6503	SO:0001583	missense	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171303803G>C	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.1081G>C	1.37:g.171303803G>C	ENSP00000356723:p.Glu361Gln						p.E361Q	NM_002022	NP_002013	P31512	FMO4_HUMAN			8	1298	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		361					Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	c.1081G>C	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403814	0.25291	.	.	ENSG00000076258	ENST00000367749	T	0.57273	0.41	5.63	5.63	0.86233	.	0.162514	0.53938	D	0.000057	T	0.42381	0.1200	M	0.68317	2.08	0.40449	D	0.980128	B	0.32040	0.353	B	0.27715	0.082	T	0.46978	-0.9152	10	0.49607	T	0.09	-17.5797	19.2618	0.93971	0.0:0.0:1.0:0.0	.	361	P31512	FMO4_HUMAN	Q	361	ENSP00000356723:E361Q	ENSP00000356723:E361Q	E	+	1	0	FMO4	169570427	1.000000	0.71417	0.206000	0.23566	0.120000	0.20174	4.616000	0.61197	2.632000	0.89209	0.650000	0.86243	GAG		0.403	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1		NM_002022		10	92	0	0	0	0.008291	0	10	92		
TPR	7175	broad.mit.edu	37	1	186329966	186329966	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:186329966C>G	ENST00000367478.4	-	10	1326	c.1030G>C	c.(1030-1032)Gag>Cag	p.E344Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	344					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.E345Q(1)|p.E344Q(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCTATTTTCTCAAGCATTTCT	0.348			T	NTRK1	papillary thyroid																																	uc001grv.2		NaN		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(1030-1032)GAG>CAG		nuclear pore complex-associated protein TPR							149.0	135.0	139.0					1																	186329966		1847	4081	5928	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186329966C>G	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.1030G>C	1.37:g.186329966C>G	ENSP00000356448:p.Glu344Gln					TPR_uc010pop.1_Missense_Mutation_p.E420Q	p.E344Q	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	10	1327	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	344			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.1030G>C	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405451	0.62288	.	.	ENSG00000047410	ENST00000367478	T	0.28069	1.63	5.59	5.59	0.84812	.	0.046872	0.85682	D	0.000000	T	0.47619	0.1455	L	0.46947	1.48	0.49299	D	0.999777	D;D	0.76494	0.995;0.999	D;D	0.63488	0.911;0.915	T	0.15263	-1.0443	10	0.30854	T	0.27	.	18.5846	0.91183	0.0:1.0:0.0:0.0	.	344;344	Q15624;P12270	.;TPR_HUMAN	Q	344	ENSP00000356448:E344Q	ENSP00000356448:E344Q	E	-	1	0	TPR	184596589	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	5.369000	0.66138	2.627000	0.88993	0.655000	0.94253	GAG		0.348	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2		NM_003292		3	51	0	0	0	0.004672	0	3	51		
TPR	7175	broad.mit.edu	37	1	186330823	186330823	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:186330823C>G	ENST00000367478.4	-	9	1185	c.889G>C	c.(889-891)Gaa>Caa	p.E297Q	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	297					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.E298Q(1)|p.E297Q(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTCTTTGCTTCTGAGTCATCA	0.373			T	NTRK1	papillary thyroid																																	uc001grv.2		NaN		Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(889-891)GAA>CAA		nuclear pore complex-associated protein TPR							152.0	139.0	143.0					1																	186330823		1850	4095	5945	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186330823C>G	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.889G>C	1.37:g.186330823C>G	ENSP00000356448:p.Glu297Gln					TPR_uc010pop.1_Missense_Mutation_p.E373Q	p.E297Q	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	9	1186	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	297			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.889G>C	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948374	0.73787	.	.	ENSG00000047410	ENST00000367478	T	0.25912	1.77	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	L	0.52011	1.625	0.48452	D	0.999657	D;D	0.89917	1.0;0.999	D;D	0.80764	0.983;0.994	T	0.36114	-0.9761	10	0.52906	T	0.07	.	17.9861	0.89156	0.0:1.0:0.0:0.0	.	297;297	Q15624;P12270	.;TPR_HUMAN	Q	297	ENSP00000356448:E297Q	ENSP00000356448:E297Q	E	-	1	0	TPR	184597446	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.639000	0.67868	2.459000	0.83118	0.655000	0.94253	GAA		0.373	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2		NM_003292		7	78	0	0	0	0.00308	0	7	78		
MYBPH	4608	broad.mit.edu	37	1	203139485	203139485	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:203139485C>T	ENST00000255416.4	-	7	1084	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	343	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.E343K(1)		endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CACAGGTTTTCTGAGAAGACC	0.597																																					NSCLC(32;174 1025 14462 23899 42933)	uc001gzh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1027-1029)GAA>AAA		myosin binding protein H							146.0	141.0	143.0					1																	203139485		2203	4300	6503	SO:0001583	missense	4608				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	g.chr1:203139485C>T	BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7552	protein-coding gene	gene with protein product		160795	"""myosin-binding protein H"""			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.1027G>A	1.37:g.203139485C>T	ENSP00000255416:p.Glu343Lys					FMOD_uc010pqi.1_Intron	p.E343K	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)	7	1086	-			343			Fibronectin type-III 2.		Q16886|Q86YC5	Missense_Mutation	SNP	ENST00000255416.4	37	c.1027G>A	CCDS30975.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.945885	0.92593	.	.	ENSG00000133055	ENST00000255416	T	0.56776	0.44	5.22	5.22	0.72569	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000159	T	0.76709	0.4025	M	0.86097	2.795	0.58432	D	0.99999	D	0.71674	0.998	D	0.77557	0.99	T	0.80462	-0.1372	10	0.72032	D	0.01	.	19.1436	0.93455	0.0:1.0:0.0:0.0	.	343	Q13203	MYBPH_HUMAN	K	343	ENSP00000255416:E343K	ENSP00000255416:E343K	E	-	1	0	MYBPH	201406108	1.000000	0.71417	0.987000	0.45799	0.944000	0.59088	4.496000	0.60360	2.586000	0.87340	0.561000	0.74099	GAA		0.597	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1		NM_004997		3	48	0	0	0	0.004672	0	3	48		
LAX1	54900	broad.mit.edu	37	1	203743363	203743363	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:203743363G>A	ENST00000442561.2	+	5	1141	c.751G>A	c.(751-753)Gac>Aac	p.D251N	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.D235N	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	251					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)	p.D251N(1)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AGGAGCTGAGGACAGTGATTC	0.488																																						uc001haa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)	2						c.(751-753)GAC>AAC		lymphocyte transmembrane adaptor 1 isoform a							74.0	76.0	75.0					1																	203743363		2203	4300	6503	SO:0001583	missense	54900				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	g.chr1:203743363G>A	AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.751G>A	1.37:g.203743363G>A	ENSP00000406970:p.Asp251Asn					LAX1_uc010pql.1_Missense_Mutation_p.D235N|LAX1_uc001hab.2_Missense_Mutation_p.D175N	p.D251N	NM_017773	NP_060243	Q8IWV1	LAX1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		5	1161	+	all_cancers(21;0.0915)		251			Cytoplasmic (Potential).		B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	c.751G>A	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	G	4.802	0.149061	0.09185	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.27	-2.32	0.06745	.	2.325090	0.01374	N	0.012691	T	0.15652	0.0377	N	0.04959	-0.14	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.29336	-1.0015	9	0.02654	T	1	4.1104	6.7914	0.23701	0.2616:0.0:0.6141:0.1243	.	235;251	B7Z744;Q8IWV1	.;LAX1_HUMAN	N	251;235	.	ENSP00000356186:D235N	D	+	1	0	LAX1	202009986	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.342000	0.07801	-0.810000	0.04375	0.655000	0.94253	GAC		0.488	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3		NM_017773		5	40	0	0	0	0.021553	0	5	40		
SLC26A9	115019	broad.mit.edu	37	1	205902176	205902177	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:205902176_205902177CC>AT	ENST00000367135.3	-	3	274_275	c.161_162GG>AT	c.(160-162)gGG>gAT	p.G54D	RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000340781.4_Missense_Mutation_p.G54D|SLC26A9_ENST00000367134.2_Missense_Mutation_p.G54D	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	54					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)	p.G54D(2)|p.G54E(2)|p.G54G(2)		NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CAGGCAGCAGCCCAAACACCAC	0.55																																						uc001hdq.2		NaN																	6	Substitution - Missense(4)|Substitution - coding silent(2)		urinary_tract(6)	ovary(1)|skin(1)	2						c.(160-162)GGG>GAT		solute carrier family 26, member 9 isoform a																																				SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205902176_205902177CC>AT	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.161_162delinsAT	1.37:g.205902176_205902177delinsAT	ENSP00000356103:p.Gly54Asp					SLC26A9_uc001hdp.2_Missense_Mutation_p.G54D	p.G54D	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		3	275_276	-	Breast(84;0.201)		54			Helical; (Potential).		A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	DNP	ENST00000367135.3	37	c.161_162GG>AT	CCDS30990.1																																																																																				0.550	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1		NM_052934		6	42	0	0	0	0.004672	0	6	42		
ADCK3	56997	broad.mit.edu	37	1	227174193	227174193	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:227174193G>T	ENST00000366779.1	+	20	4470	c.1699G>T	c.(1699-1701)Ggg>Tgg	p.G567W	ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366777.3_Missense_Mutation_p.G567W|ADCK3_ENST00000366778.1_Missense_Mutation_p.G515W|ADCK3_ENST00000433743.2_Missense_Mutation_p.G241W|ADCK3_ENST00000458507.2_Missense_Mutation_p.G288W			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	567					cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G567W(1)|p.G288W(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CCTCATCCTGGGGGAGGCCTT	0.587																																						uc001hqm.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1699-1701)GGG>TGG		chaperone, ABC1 activity of bc1 complex like							90.0	90.0	90.0					1																	227174193		2203	4300	6503	SO:0001583	missense	56997				cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	g.chr1:227174193G>T	AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1699G>T	1.37:g.227174193G>T	ENSP00000355741:p.Gly567Trp					CABC1_uc001hqn.1_Missense_Mutation_p.G567W|CABC1_uc009xeq.1_Missense_Mutation_p.G515W|CABC1_uc010pvq.1_Missense_Mutation_p.G288W|CABC1_uc010pvr.1_Missense_Mutation_p.G241W|CABC1_uc001hqo.1_Missense_Mutation_p.G288W|CABC1_uc009xer.1_Missense_Mutation_p.G83W	p.G567W	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN			20	5118	+		Prostate(94;0.0771)	567					Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Missense_Mutation	SNP	ENST00000366779.1	37	c.1699G>T	CCDS1557.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901861	0.92035	.	.	ENSG00000163050	ENST00000366779;ENST00000366778;ENST00000366777;ENST00000366776;ENST00000458507;ENST00000366775;ENST00000405743;ENST00000433743	T;T;T;T;T;T;T	0.76060	-0.89;-0.87;-0.89;-0.99;-0.55;-0.97;-0.86	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.90383	0.6990	M	0.93978	3.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91148	0.4951	10	0.52906	T	0.07	-40.7185	20.2079	0.98282	0.0:0.0:1.0:0.0	.	241;567	E7EVZ8;Q8NI60	.;ADCK3_HUMAN	W	567;515;567;492;288;412;518;241	ENSP00000355741:G567W;ENSP00000355740:G515W;ENSP00000355739:G567W;ENSP00000355738:G492W;ENSP00000403704:G288W;ENSP00000355737:G412W;ENSP00000404550:G241W	ENSP00000355737:G412W	G	+	1	0	ADCK3	225240816	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	9.815000	0.99349	2.781000	0.95711	0.655000	0.94253	GGG		0.587	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091712.1		NM_020247		8	56	1	0	0.000157383	0.00308	0.000167958	8	56		
CDC42BPA	8476	broad.mit.edu	37	1	227227863	227227863	+	Silent	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:227227863C>G	ENST00000366769.3	-	23	4354	c.3063G>C	c.(3061-3063)gtG>gtC	p.V1021V	CDC42BPA_ENST00000366767.3_Silent_p.V940V|CDC42BPA_ENST00000535525.1_Silent_p.V1001V|CDC42BPA_ENST00000366765.3_Silent_p.V1034V|CDC42BPA_ENST00000366764.2_Silent_p.V993V|CDC42BPA_ENST00000334218.5_Silent_p.V1021V|CDC42BPA_ENST00000366766.2_Silent_p.V1056V	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.V940V(1)|p.V1056V(1)|p.V1021V(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTATTAAACCCACCATCAAGG	0.343																																						uc001hqr.2		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)	lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(3061-3063)GTG>GTC		CDC42-binding protein kinase alpha isoform B							113.0	108.0	110.0					1																	227227863		2203	4300	6503	SO:0001819	synonymous_variant	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227227863C>G	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3063G>C	1.37:g.227227863C>G						CDC42BPA_uc001hqq.2_Silent_p.V320V|CDC42BPA_uc001hqs.2_Silent_p.V940V|CDC42BPA_uc009xes.2_Silent_p.V993V|CDC42BPA_uc010pvs.1_Silent_p.V1001V|CDC42BPA_uc001hqp.2_Silent_p.V177V|CDC42BPA_uc001hqu.1_Silent_p.V228V	p.V1021V	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			23	4006	-		all_cancers(173;0.156)|Prostate(94;0.0792)	1034			Phorbol-ester/DAG-type.			Silent	SNP	ENST00000366769.3	37	c.3063G>C	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	C	4.168	0.029692	0.08101	.	.	ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000441725	.	.	.	5.44	1.95	0.26073	.	.	.	.	.	T	0.55130	0.1901	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48514	-0.9029	4	.	.	.	.	7.4132	0.27029	0.4308:0.3391:0.2301:0.0	.	.	.	.	R	224;350;246	.	.	G	-	1	0	CDC42BPA	225294486	0.999000	0.42202	1.000000	0.80357	0.444000	0.32077	0.728000	0.26013	0.725000	0.32318	0.591000	0.81541	GGG		0.343	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1		NM_014826		8	58	0	0	0	0.004482	0	8	58		
LYST	1130	broad.mit.edu	37	1	235972029	235972029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:235972029G>A	ENST00000389794.3	-	5	2263	c.2089C>T	c.(2089-2091)Cag>Tag	p.Q697*	LYST_ENST00000389793.2_Nonsense_Mutation_p.Q697*|LYST_ENST00000536965.1_Nonsense_Mutation_p.Q697*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	697					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.Q697*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACAAAGTTCTGATAAGCCTTT	0.368																																						uc001hxj.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(2089-2091)CAG>TAG		lysosomal trafficking regulator							56.0	60.0	59.0					1																	235972029		2198	4298	6496	SO:0001587	stop_gained	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235972029G>A	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.2089C>T	1.37:g.235972029G>A	ENSP00000374444:p.Gln697*					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Nonsense_Mutation_p.Q697*	p.Q697*	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	2264	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	697			WD 1.		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Nonsense_Mutation	SNP	ENST00000389794.3	37	c.2089C>T	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	G	42	9.671688	0.99234	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	.	.	.	5.6	5.6	0.85130	.	0.058281	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.5973	0.95546	0.0:0.0:1.0:0.0	.	.	.	.	X	697	.	ENSP00000374443:Q697X	Q	-	1	0	LYST	234038652	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.633000	0.89246	0.655000	0.94253	CAG		0.368	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5				6	52	0	0	0	0.021553	0	6	52		
RYR2	6262	broad.mit.edu	37	1	237756804	237756804	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:237756804G>A	ENST00000366574.2	+	33	4621	c.4304G>A	c.(4303-4305)gGa>gAa	p.G1435E	RYR2_ENST00000360064.6_Missense_Mutation_p.G1433E|RYR2_ENST00000542537.1_Missense_Mutation_p.G1419E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1435	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G1433E(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCTTTCCTGGACAAGAACCT	0.393																																						uc001hyl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(4303-4305)GGA>GAA		cardiac muscle ryanodine receptor							110.0	99.0	103.0					1																	237756804		1883	4109	5992	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237756804G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4304G>A	1.37:g.237756804G>A	ENSP00000355533:p.Gly1435Glu						p.G1435E	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		33	4424	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1435			Cytoplasmic (By similarity).|B30.2/SPRY 3.|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.4304G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996285	0.93167	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.69561	-0.41;-0.41;-0.41	5.26	5.26	0.73747	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.185111	0.33127	N	0.005245	T	0.82167	0.4978	M	0.79475	2.455	0.80722	D	1	D	0.69078	0.997	D	0.67382	0.951	D	0.84100	0.0395	10	0.87932	D	0	.	19.0623	0.93097	0.0:0.0:1.0:0.0	.	1435	Q92736	RYR2_HUMAN	E	1435;1433;1419	ENSP00000355533:G1435E;ENSP00000353174:G1433E;ENSP00000443798:G1419E	ENSP00000353174:G1433E	G	+	2	0	RYR2	235823427	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.652000	0.98499	2.727000	0.93392	0.650000	0.86243	GGA		0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035		6	49	0	0	0	0.02938	0	6	49		
AHCTF1	25909	broad.mit.edu	37	1	247053295	247053295	+	Missense_Mutation	SNP	C	C	T	rs140782802	byFrequency	TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr1:247053295C>T	ENST00000391829.2	-	17	2240	c.2117G>A	c.(2116-2118)cGt>cAt	p.R706H	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R715H|AHCTF1_ENST00000366508.1_Missense_Mutation_p.R741H			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	706	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R706H(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTCTGTCGACGACTGGTGTA	0.343																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|skin(2)	7						c.(2116-2118)CGT>CAT		transcription factor ELYS		C	HIS/ARG	4,4402	8.1+/-20.4	0,4,2199	121.0	129.0	126.0		2144	4.7	1.0	1	dbSNP_134	126	0,8600		0,0,4300	yes	missense	AHCTF1	NM_015446.4	29	0,4,6499	TT,TC,CC		0.0,0.0908,0.0308	possibly-damaging	715/2276	247053295	4,13002	2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247053295C>T		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2117G>A	1.37:g.247053295C>T	ENSP00000375705:p.Arg706His					AHCTF1_uc001ibv.1_Missense_Mutation_p.R715H|AHCTF1_uc009xgs.1_5'UTR	p.R706H	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		16	2124	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	706			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.2117G>A		.	.	.	.	.	.	.	.	.	.	C	7.750	0.703055	0.15172	9.08E-4	0.0	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.38240	1.15;1.15;1.15	5.61	4.71	0.59529	.	0.061483	0.64402	D	0.000003	T	0.25568	0.0622	L	0.38838	1.175	0.32669	N	0.517086	B;B	0.30211	0.273;0.217	B;B	0.22880	0.042;0.026	T	0.33548	-0.9864	10	0.42905	T	0.14	-6.4575	8.8102	0.34963	0.0:0.7619:0.0:0.2381	.	741;706	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	H	741;715;706	ENSP00000355464:R741H;ENSP00000355465:R715H;ENSP00000375705:R706H	ENSP00000355465:R715H	R	-	2	0	AHCTF1	245119918	0.983000	0.35010	0.970000	0.41538	0.006000	0.05464	2.110000	0.41873	1.388000	0.46506	-0.245000	0.11935	CGT		0.343	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_015446		21	113	0	0	0	0.014323	0	21	113		
FAM208B	54906	broad.mit.edu	37	10	5762896	5762896	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:5762896C>G	ENST00000328090.5	+	6	734	c.109C>G	c.(109-111)Ctt>Gtt	p.L37V	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	37								p.L37V(1)									TGATATAGCTCTTTGGTCCAC	0.333																																						uc001iij.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(109-111)CTT>GTT		hypothetical protein LOC54906							109.0	94.0	99.0					10																	5762896		1854	4101	5955	SO:0001583	missense	54906							g.chr10:5762896C>G	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.109C>G	10.37:g.5762896C>G	ENSP00000328426:p.Leu37Val						p.L37V	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN			6	734	+			37					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	37	c.109C>G	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330664	0.41297	.	.	ENSG00000108021	ENST00000328090;ENST00000442808	T	0.46451	0.87	5.61	4.71	0.59529	.	0.000000	0.47455	D	0.000231	T	0.63129	0.2485	M	0.75264	2.295	0.31805	N	0.627851	D	0.89917	1.0	D	0.87578	0.998	T	0.71991	-0.4425	10	0.72032	D	0.01	.	12.2685	0.54691	0.0:0.9211:0.0:0.0789	.	37	Q5VWN6	F208B_HUMAN	V	37	ENSP00000328426:L37V	ENSP00000328426:L37V	L	+	1	0	C10orf18	5802902	0.979000	0.34478	0.955000	0.39395	0.084000	0.17831	2.500000	0.45381	1.366000	0.46076	0.655000	0.94253	CTT		0.333	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2		NM_017782		11	71	0	0	0	0.008291	0	11	71		
SEC61A2	55176	broad.mit.edu	37	10	12204226	12204226	+	Silent	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:12204226G>T	ENST00000298428.9	+	11	1271	c.1182G>T	c.(1180-1182)ctG>ctT	p.L394L	SEC61A2_ENST00000495368.1_3'UTR|SEC61A2_ENST00000304267.8_Silent_p.L394L|SEC61A2_ENST00000379033.3_Silent_p.L372L|SEC61A2_ENST00000379020.4_Silent_p.L328L	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	394					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)	p.L394L(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				CTAAACAGCTGAAAGAACAGC	0.458																																						uc001ile.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(1180-1182)CTG>CTT		Sec61 alpha form 2 isoform a							238.0	229.0	232.0					10																	12204226		2203	4300	6503	SO:0001819	synonymous_variant	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12204226G>T	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.1182G>T	10.37:g.12204226G>T						SEC61A2_uc010qbq.1_Silent_p.L372L|SEC61A2_uc001ilf.3_RNA|SEC61A2_uc001ilh.3_RNA|SEC61A2_uc001ilg.3_Silent_p.L394L	p.L394L	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN			11	1329	+		Renal(717;0.228)	394			Cytoplasmic (Potential).		A8K8D0|B4DX72|F8W773	Silent	SNP	ENST00000298428.9	37	c.1182G>T	CCDS7088.1	.	.	.	.	.	.	.	.	.	.	G	8.546	0.874419	0.17395	.	.	ENSG00000065665	ENST00000419021	.	.	.	5.85	-1.26	0.09376	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.1333	2.4941	0.04617	0.3282:0.0708:0.3587:0.2423	.	.	.	.	X	146	.	.	E	+	1	0	SEC61A2	12244232	0.955000	0.32602	0.990000	0.47175	0.934000	0.57294	-0.012000	0.12699	-0.470000	0.06901	-0.262000	0.10625	GAA		0.458	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1		NM_018144		14	193	1	0	1.15088e-07	0.028581	1.29474e-07	14	193		
ERCC6	2074	broad.mit.edu	37	10	50732248	50732248	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:50732248C>T	ENST00000355832.5	-	5	1306	c.1228G>A	c.(1228-1230)Ggc>Agc	p.G410S	ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.G410S|PGBD3_ENST00000374127.3_5'UTR|ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.G410S|PGBD3_ENST00000603152.1_Missense_Mutation_p.G410S	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	410					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.G410S(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CGTTTCCCGCCCTTGGGCAGA	0.552								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1)	16						c.(1228-1230)GGC>AGC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							87.0	85.0	86.0					10																	50732248		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50732248C>T	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1228G>A	10.37:g.50732248C>T	ENSP00000348089:p.Gly410Ser					PGBD3_uc001jht.2_5'UTR|PGBD3_uc009xoe.2_Missense_Mutation_p.G410S|PGBD3_uc001jhu.2_Missense_Mutation_p.G410S	p.G410S	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			5	1382	-			410					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.1228G>A	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807270	0.50421	.	.	ENSG00000225830;ENSG00000258838;ENSG00000258838	ENST00000355832;ENST00000515869;ENST00000447839	D;T;T	0.82344	-1.6;3.46;3.46	6.17	-4.87	0.03123	.	.	.	.	.	T	0.66790	0.2825	L	0.29908	0.895	0.09310	N	1	B;B	0.19583	0.037;0.0	B;B	0.19391	0.025;0.001	T	0.54098	-0.8344	9	0.09084	T	0.74	0.1095	8.8267	0.35059	0.0:0.1982:0.3574:0.4444	.	410;410	E7EV46;Q03468	.;ERCC6_HUMAN	S	410	ENSP00000348089:G410S;ENSP00000423550:G410S;ENSP00000387966:G410S	ENSP00000348089:G410S	G	-	1	0	ERCC6;RP11-123B3.6	50402254	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.143000	0.10296	-0.568000	0.06038	-0.768000	0.03414	GGC		0.552	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1		NM_000124		3	69	0	0	0	0.004672	0	3	69		
ARID5B	84159	broad.mit.edu	37	10	63829550	63829550	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:63829550A>G	ENST00000279873.7	+	8	1603	c.1193A>G	c.(1192-1194)tAt>tGt	p.Y398C	ARID5B_ENST00000309334.5_Missense_Mutation_p.Y155C	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	398	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)	p.Y398C(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CGCAGACATTATGAAAGGTAA	0.418																																						uc001jlt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(1192-1194)TAT>TGT		AT rich interactive domain 5B (MRF1-like)							46.0	46.0	46.0					10																	63829550		2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63829550A>G	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.1193A>G	10.37:g.63829550A>G	ENSP00000279873:p.Tyr398Cys					ARID5B_uc001jlu.1_Missense_Mutation_p.Y155C	p.Y398C	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			8	1219	+	Prostate(12;0.016)|all_hematologic(501;0.215)		398			ARID.		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.1193A>G	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580712	0.86748	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	D;D	0.86865	-2.18;-2.18	6.1	6.1	0.99115	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.85682	D	0.000000	D	0.95159	0.8431	M	0.92459	3.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96033	0.9018	10	0.87932	D	0	-14.5454	16.686	0.85306	1.0:0.0:0.0:0.0	.	155;398	Q14865-2;Q14865	.;ARI5B_HUMAN	C	398;155	ENSP00000279873:Y398C;ENSP00000308862:Y155C	ENSP00000279873:Y398C	Y	+	2	0	ARID5B	63499556	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.791000	0.91849	2.340000	0.79590	0.528000	0.53228	TAT		0.418	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1		XM_084482		4	31	0	0	0	0.014758	0	4	31		
ACTA2	59	broad.mit.edu	37	10	90701132	90701132	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:90701132G>A	ENST00000458208.1	-	6	944	c.470C>T	c.(469-471)tCt>tTt	p.S157F	ACTA2_ENST00000480297.1_5'UTR|ACTA2_ENST00000224784.6_Missense_Mutation_p.S157F|ACTA2-AS1_ENST00000437930.4_RNA|STAMBPL1_ENST00000371927.3_Intron|ACTA2-AS1_ENST00000596007.1_RNA	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	157					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)	p.S157F(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		ACCATCTCCAGAGTCCAGCAC	0.562																																						uc001kfp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(469-471)TCT>TTT		alpha 2 actin							117.0	101.0	106.0					10																	90701132		2203	4300	6503	SO:0001583	missense	59				response to virus	cytosol	ATP binding	g.chr10:90701132G>A	X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.470C>T	10.37:g.90701132G>A	ENSP00000402373:p.Ser157Phe					STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Missense_Mutation_p.S112F|ACTA2_uc001kfq.2_Missense_Mutation_p.S157F	p.S157F	NM_001613	NP_001604	P62736	ACTA_HUMAN		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)	6	586	-		Colorectal(252;0.0161)	157					B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	ENST00000458208.1	37	c.470C>T	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951987	0.73787	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.95272	-3.66;-3.66	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	D	0.98604	0.9533	H	0.99182	4.46	0.80722	D	1	P	0.40211	0.707	P	0.58013	0.831	D	0.98611	1.0663	10	0.87932	D	0	.	18.9931	0.92801	0.0:0.0:1.0:0.0	.	157	P62736	ACTA_HUMAN	F	157;157;112	ENSP00000224784:S157F;ENSP00000402373:S157F	ENSP00000224784:S157F	S	-	2	0	ACTA2	90691112	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.810000	0.99221	2.833000	0.97629	0.655000	0.94253	TCT		0.562	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049264.1		NM_001613		4	50	0	0	0	0.014758	0	4	50		
PDCD11	22984	broad.mit.edu	37	10	105182763	105182763	+	Missense_Mutation	SNP	C	C	T	rs142899352		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:105182763C>T	ENST00000369797.3	+	18	2610	c.2516C>T	c.(2515-2517)aCg>aTg	p.T839M		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	839					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.T839M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTGATCCAGACGCTGGCCGAG	0.527																																						uc001kwy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(2515-2517)ACG>ATG		programmed cell death 11		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	116.0	103.0	107.0		2516	5.0	1.0	10	dbSNP_134	107	0,8600		0,0,4300	no	missense	PDCD11	NM_014976.1	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	839/1872	105182763	1,13005	2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105182763C>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.2516C>T	10.37:g.105182763C>T	ENSP00000358812:p.Thr839Met						p.T839M	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	18	2603	+		Colorectal(252;0.0747)|Breast(234;0.128)	839					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.2516C>T	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.669172	0.47677	2.27E-4	0.0	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.10288	2.89	5.95	5.04	0.67666	.	0.388932	0.31092	N	0.008272	T	0.12646	0.0307	L	0.51422	1.61	0.35143	D	0.769016	D	0.67145	0.996	B	0.44163	0.443	T	0.07616	-1.0763	10	0.45353	T	0.12	-14.7673	11.5381	0.50651	0.0:0.9178:0.0:0.0822	.	839	Q14690	RRP5_HUMAN	M	839	ENSP00000358812:T839M	ENSP00000358812:T839M	T	+	2	0	PDCD11	105172753	0.029000	0.19370	0.968000	0.41197	0.402000	0.30811	0.122000	0.15687	2.826000	0.97356	0.491000	0.48974	ACG		0.527	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1				3	49	0	0	0	0.009096	0	3	49		
CFAP43	80217	broad.mit.edu	37	10	105953694	105953694	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:105953694C>T	ENST00000278064.2	-	11	1490	c.1165G>A	c.(1165-1167)Gta>Ata	p.V389I	WDR96_ENST00000428666.1_Missense_Mutation_p.V459I|WDR96_ENST00000357060.3_Missense_Mutation_p.V458I|WDR96_ENST00000369720.1_Missense_Mutation_p.V389I														p.V458I(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTATCATATACGCTGATGAAG	0.552																																						uc001kxw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1372-1374)GTA>ATA		hypothetical protein LOC80217							112.0	88.0	96.0					10																	105953694		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105953694C>T																												ENST00000278064.2:c.1165G>A	10.37:g.105953694C>T	ENSP00000278064:p.Val389Ile					C10orf79_uc001kxx.3_Missense_Mutation_p.V459I|C10orf79_uc001kxy.1_Missense_Mutation_p.V459I	p.V458I	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	11	1488	-		Colorectal(252;0.178)	458			WD 7.			Missense_Mutation	SNP	ENST00000278064.2	37	c.1372G>A		.	.	.	.	.	.	.	.	.	.	C	9.949	1.219755	0.22373	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720	T;T;T;T	0.29655	1.61;1.61;1.61;1.56	4.93	-1.72	0.08107	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.501901	0.14866	N	0.293820	T	0.14013	0.0339	N	0.17723	0.515	0.09310	N	1	B;B	0.28584	0.216;0.062	B;B	0.25291	0.059;0.014	T	0.22487	-1.0215	10	0.22706	T	0.39	.	5.3435	0.15996	0.0:0.4366:0.1392:0.4242	.	459;458	B4DHB6;Q8NDM7	.;WDR96_HUMAN	I	458;459;389;389	ENSP00000349568:V458I;ENSP00000400289:V459I;ENSP00000278064:V389I;ENSP00000358734:V389I	ENSP00000278064:V389I	V	-	1	0	WDR96	105943684	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.867000	0.04241	-0.418000	0.07450	0.650000	0.86243	GTA		0.552	WDR96-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050200.1				11	58	0	0	0	0.008291	0	11	58		
SORCS3	22986	broad.mit.edu	37	10	106982877	106982877	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:106982877C>A	ENST00000369701.3	+	20	2965	c.2738C>A	c.(2737-2739)cCt>cAt	p.P913H	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	913	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.P913H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCCTTAGGTCCTGTGGAGCAT	0.428																																					NSCLC(116;1497 1690 7108 13108 14106)	uc001kyi.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|skin(3)|central_nervous_system(1)	10						c.(2737-2739)CCT>CAT		VPS10 domain receptor protein SORCS 3 precursor							114.0	111.0	112.0					10																	106982877		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106982877C>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2738C>A	10.37:g.106982877C>A	ENSP00000358715:p.Pro913His					SORCS3_uc010qqz.1_RNA	p.P913H	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	20	2965	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	913			PKD.|Lumenal (Potential).		Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.2738C>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	19.93	3.917802	0.73098	.	.	ENSG00000156395	ENST00000369701	T	0.69435	-0.4	5.06	5.06	0.68205	PKD domain (1);	0.186199	0.47455	D	0.000221	T	0.80412	0.4618	M	0.68593	2.085	0.58432	D	0.999999	D	0.76494	0.999	D	0.69824	0.966	T	0.79969	-0.1579	9	.	.	.	.	18.7786	0.91922	0.0:1.0:0.0:0.0	.	913	Q9UPU3	SORC3_HUMAN	H	913	ENSP00000358715:P913H	.	P	+	2	0	SORCS3	106972867	0.999000	0.42202	0.993000	0.49108	0.933000	0.57130	4.170000	0.58229	2.516000	0.84829	0.563000	0.77884	CCT		0.428	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1		NM_014978		10	83	1	0	7.48243e-07	0.006214	8.31381e-07	10	83		
ATRNL1	26033	broad.mit.edu	37	10	117704277	117704277	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:117704277G>A	ENST00000355044.3	+	29	4253	c.4127G>A	c.(4126-4128)gGa>gAa	p.G1376E	ATRNL1_ENST00000423111.2_Missense_Mutation_p.G427E|ATRNL1_ENST00000303745.7_Missense_Mutation_p.G169E	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1376					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.G1376E(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACACGTCAAGGAACTTGTGTC	0.413																																						uc001lcg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(4126-4128)GGA>GAA		attractin-like 1 precursor							94.0	99.0	97.0					10																	117704277		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117704277G>A	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.4127G>A	10.37:g.117704277G>A	ENSP00000347152:p.Gly1376Glu					ATRNL1_uc010qsm.1_Missense_Mutation_p.G505E|ATRNL1_uc010qsn.1_RNA	p.G1376E	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	29	4513	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1376			Cytoplasmic (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.4127G>A	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026506	0.75390	.	.	ENSG00000107518	ENST00000355044;ENST00000423111;ENST00000303745	T;T	0.23348	2.52;1.91	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.53045	0.1772	M	0.67953	2.075	0.51233	D	0.999914	D;D	0.89917	0.999;1.0	D;D	0.83275	0.941;0.996	T	0.48468	-0.9033	10	0.62326	D	0.03	-14.8125	20.3754	0.98918	0.0:0.0:1.0:0.0	.	427;1376	B4DH41;Q5VV63	.;ATRN1_HUMAN	E	1376;427;169	ENSP00000347152:G1376E;ENSP00000409624:G427E	ENSP00000307660:G169E	G	+	2	0	ATRNL1	117694267	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.535000	0.82014	2.894000	0.99253	0.591000	0.81541	GGA		0.413	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3		XM_049349		14	91	0	0	0	0.024245	0	14	91		
INPP5F	22876	broad.mit.edu	37	10	121563770	121563770	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr10:121563770C>T	ENST00000361976.2	+	10	1368	c.1202C>T	c.(1201-1203)tCa>tTa	p.S401L		NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	0	5-phosphatase.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.S401L(1)		breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		TTCAACAACTCACACCTCACT	0.418																																						uc001leo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1201-1203)TCA>TTA		inositol polyphosphate-5-phosphatase F							175.0	155.0	161.0					10																	121563770		2203	4300	6503	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121563770C>T	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.1202C>T	10.37:g.121563770C>T	ENSP00000354519:p.Ser401Leu						p.S401L	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	10	1368	+		Lung NSC(174;0.109)|all_lung(145;0.142)	401			SAC.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.1202C>T	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.992831	0.74703	.	.	ENSG00000198825	ENST00000361976	T	0.58358	0.34	5.55	5.55	0.83447	Synaptojanin, N-terminal (2);	0.466802	0.22695	N	0.056773	T	0.50051	0.1593	L	0.41710	1.295	0.80722	D	1	B	0.24043	0.096	B	0.25506	0.061	T	0.46569	-0.9182	10	0.62326	D	0.03	-1.2684	19.8809	0.96899	0.0:1.0:0.0:0.0	.	401	Q9Y2H2	SAC2_HUMAN	L	401	ENSP00000354519:S401L	ENSP00000354519:S401L	S	+	2	0	INPP5F	121553760	0.967000	0.33354	0.971000	0.41717	0.759000	0.43091	7.263000	0.78421	2.771000	0.95319	0.561000	0.74099	TCA		0.418	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1		NM_014937		10	108	0	0	0	0.008291	0	10	108		
DUSP8	1850	broad.mit.edu	37	11	1579411	1579411	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:1579411G>A	ENST00000397374.3	-	5	755	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	DUSP8_ENST00000331588.4_Missense_Mutation_p.R210W|DUSP8_ENST00000528778.1_5'UTR	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	210	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R210W(1)		endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		ATGGGGACCCGCATGAAGCGG	0.582																																						uc001lts.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(628-630)CGG>TGG		dual specificity phosphatase 8							81.0	84.0	83.0					11																	1579411		2202	4299	6501	SO:0001583	missense	1850				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr11:1579411G>A		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.628C>T	11.37:g.1579411G>A	ENSP00000380530:p.Arg210Trp						p.R210W	NM_004420	NP_004411	Q13202	DUS8_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)	5	756	-		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	210			Tyrosine-protein phosphatase.		Q86SS8	Missense_Mutation	SNP	ENST00000397374.3	37	c.628C>T	CCDS7724.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242069	0.58995	.	.	ENSG00000184545	ENST00000397374;ENST00000331588	T;T	0.61158	0.13;0.13	3.65	1.74	0.24563	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.077137	0.52532	D	0.000064	T	0.74306	0.3699	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78142	-0.2319	10	0.87932	D	0	.	15.5132	0.75802	0.0:0.0:0.857:0.143	.	210	Q13202	DUS8_HUMAN	W	210	ENSP00000380530:R210W;ENSP00000329539:R210W	ENSP00000329539:R210W	R	-	1	2	DUSP8	1535987	1.000000	0.71417	0.990000	0.47175	0.734000	0.41952	5.267000	0.65530	0.349000	0.23975	-2.502000	0.00191	CGG		0.582	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257178.3		NM_004420		4	104	0	0	0	0.009096	0	4	104		
TNNI2	7136	broad.mit.edu	37	11	1861878	1861878	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:1861878G>A	ENST00000381906.1	+	5	247	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	TNNI2_ENST00000381905.3_Missense_Mutation_p.E60K|TNNI2_ENST00000381911.1_Missense_Mutation_p.E60K|TNNI2_ENST00000252898.7_Missense_Mutation_p.E60K	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	60					muscle filament sliding (GO:0030049)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|nucleus (GO:0005634)|troponin complex (GO:0005861)	troponin T binding (GO:0031014)	p.E60K(1)		lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTCCATGTCTGAAGTGCAGGT	0.667																																						uc010qxe.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(178-180)GAA>AAA		fast-twitch skeletal muscle troponin I isoform							26.0	34.0	31.0					11																	1861878		2202	4299	6501	SO:0001583	missense	7136				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	g.chr11:1861878G>A	L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598			11946	protein-coding gene	gene with protein product	"""troponin I, fast-twitch skeletal muscle isoform"", ""troponin I fast twitch 2"""	191043	"""troponin I, skeletal, fast"", ""arthrogryposis multiplex congenita, distal, type 2B"""	AMCD2B		9016781, 12592607	Standard	NM_001145829		Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.178G>A	11.37:g.1861878G>A	ENSP00000371331:p.Glu60Lys					TNNI2_uc010qxc.1_Missense_Mutation_p.E58K|TNNI2_uc010qxd.1_Missense_Mutation_p.E58K	p.E60K	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	3	200	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	60					A6NIV8|A6NJU5	Missense_Mutation	SNP	ENST00000381906.1	37	c.178G>A	CCDS31333.1	.	.	.	.	.	.	.	.	.	.	g	14.77	2.634238	0.47049	.	.	ENSG00000130598	ENST00000381911;ENST00000381906;ENST00000252898;ENST00000381905	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	2.63	2.63	0.31362	.	0.059051	0.64402	D	0.000003	D	0.93549	0.7941	M	0.71036	2.16	0.47374	D	0.999404	P;P	0.41366	0.747;0.615	B;B	0.41917	0.265;0.37	D	0.94540	0.7744	10	0.72032	D	0.01	-18.1743	14.3925	0.66989	0.0:0.0:1.0:0.0	.	60;60	A6NIV8;P48788	.;TNNI2_HUMAN	K	60	ENSP00000371336:E60K;ENSP00000371331:E60K;ENSP00000252898:E60K;ENSP00000371330:E60K	ENSP00000252898:E60K	E	+	1	0	TNNI2	1818454	1.000000	0.71417	0.836000	0.33094	0.081000	0.17604	3.360000	0.52299	1.790000	0.52503	0.313000	0.20887	GAA		0.667	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034046.2		NM_003282		4	32	0	0	0	0.014758	0	4	32		
OR51S1	119692	broad.mit.edu	37	11	4869937	4869937	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:4869937G>A	ENST00000322101.2	-	1	577	c.502C>T	c.(502-504)Cca>Tca	p.P168S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P168S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCAGGAATGGCAGGGGCAGA	0.552																																						uc010qyo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(502-504)CCA>TCA		olfactory receptor, family 51, subfamily S,							106.0	108.0	107.0					11																	4869937		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4869937G>A	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.502C>T	11.37:g.4869937G>A	ENSP00000322754:p.Pro168Ser						p.P168S	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	502	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	168			Helical; Name=4; (Potential).		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.502C>T	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574424	0.65878	.	.	ENSG00000176922	ENST00000322101	T	0.36878	1.23	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000344	T	0.49440	0.1557	M	0.64260	1.97	0.35491	D	0.798996	P	0.52463	0.953	P	0.51516	0.672	T	0.61287	-0.7093	10	0.59425	D	0.04	-8.0927	17.5702	0.87933	0.0:0.0:1.0:0.0	.	168	Q8NGJ8	O51S1_HUMAN	S	168	ENSP00000322754:P168S	ENSP00000322754:P168S	P	-	1	0	OR51S1	4826513	0.029000	0.19370	0.999000	0.59377	0.862000	0.49288	1.242000	0.32755	2.729000	0.93468	0.655000	0.94253	CCA		0.552	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1		NM_001004758		5	92	0	0	0	0.02938	0	5	92		
APBB1	322	broad.mit.edu	37	11	6415196	6415196	+	IGR	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:6415196G>A	ENST00000609360.1	-	0	2642				SMPD1_ENST00000342245.4_Missense_Mutation_p.E471K|SMPD1_ENST00000299397.3_Missense_Mutation_p.E427K|APBB1_ENST00000526240.1_5'Flank|SMPD1_ENST00000527275.1_Missense_Mutation_p.E470K|SMPD1_ENST00000356761.2_Missense_Mutation_p.E415K	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.E427K(1)|p.E471K(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CTTCTATGATGAAGAGACTCT	0.527																																					GBM(147;1810 2556 5672 39622)	uc001mcw.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1411-1413)GAA>AAA		sphingomyelin phosphodiesterase 1, acid	Desipramine(DB01151)						65.0	67.0	66.0					11																	6415196		2201	4296	6497	SO:0001628	intergenic_variant	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6415196G>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213			11.37:g.6415196G>A						SMPD1_uc001mcv.1_RNA|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.E427K|SMPD1_uc009yew.2_Missense_Mutation_p.E470K	p.E471K	NM_000543	NP_000534	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	5	1585	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	469					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.1411G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.217345|4.217345	0.79352|0.79352	.|.	.|.	ENSG00000166311|ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275|ENST00000526280	D;D;D;D|.	0.94138|.	-3.36;-3.36;-3.36;-3.36|.	4.74|4.74	4.74|4.74	0.60224|0.60224	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74191|0.74191	0.3684|0.3684	M|M	0.72624|0.72624	2.21|2.21	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.989;0.996|.	D;P;P|.	0.66084|.	0.941;0.845;0.904|.	T|T	0.74624|0.74624	-0.3603|-0.3603	10|5	0.29301|.	T|.	0.29|.	-21.5714|-21.5714	16.4659|16.4659	0.84079|0.84079	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	470;427;469|.	E9PKS3;G3XAB5;P17405|.	.;.;ASM_HUMAN|.	K|I	427;415;471;470|156	ENSP00000299397:E427K;ENSP00000349203:E415K;ENSP00000340409:E471K;ENSP00000435350:E470K|.	ENSP00000299397:E427K|.	E|M	+|+	1|3	0|0	SMPD1|SMPD1	6371772|6371772	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.979000|0.979000	0.70002|0.70002	9.339000|9.339000	0.96797|0.96797	2.478000|2.478000	0.83669|0.83669	0.561000|0.561000	0.74099|0.74099	GAA|ATG		0.527	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1		NM_001164		7	65	0	0	0	0.02938	0	7	65		
EIF4G2	1982	broad.mit.edu	37	11	10821761	10821761	+	Silent	SNP	T	T	C	rs140144694		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:10821761T>C	ENST00000526148.1	-	18	2505	c.1995A>G	c.(1993-1995)ctA>ctG	p.L665L	EIF4G2_ENST00000525681.1_Silent_p.L665L|RP11-685M7.5_ENST00000532365.1_RNA|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000396525.2_Silent_p.L627L|EIF4G2_ENST00000339995.5_Silent_p.L665L	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.L665L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGCCACTTTCTAGTGGTTGAG	0.423																																						uc001mjc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(1993-1995)CTA>CTG		eukaryotic translation initiation factor 4		T	,,	1,4401	2.1+/-5.4	0,1,2200	83.0	79.0	80.0		1881,1995,1995	4.0	1.0	11	dbSNP_134	80	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	EIF4G2	NM_001042559.2,NM_001172705.1,NM_001418.3	,,	0,1,6494	CC,CT,TT		0.0,0.0227,0.0077	,,	627/870,665/908,665/908	10821761	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10821761T>C	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1995A>G	11.37:g.10821761T>C						EIF4G2_uc001mjb.2_Silent_p.L459L|EIF4G2_uc009ygf.2_Silent_p.L459L|EIF4G2_uc001mjd.2_Silent_p.L627L	p.L665L	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	18	2412	-			665			MI.			Silent	SNP	ENST00000526148.1	37	c.1995A>G	CCDS31428.1																																																																																				0.423	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1		NM_001418		11	49	0	0	0	0.008291	0	11	49		
MICAL2	9645	broad.mit.edu	37	11	12265655	12265655	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:12265655G>A	ENST00000256194.4	+	21	3068	c.2780G>A	c.(2779-2781)aGa>aAa	p.R927K	MICAL2_ENST00000537344.1_Intron|MICAL2_ENST00000527546.1_Intron|MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.R927K	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	927					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.R927K(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCTCCTGCCAGAAAGGTAGTT	0.502																																						uc001mjz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(2)	2						c.(2779-2781)AGA>AAA		microtubule associated monoxygenase, calponin							345.0	305.0	319.0					11																	12265655		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12265655G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.2780G>A	11.37:g.12265655G>A	ENSP00000256194:p.Arg927Lys					MICAL2_uc010rch.1_Intron|MICAL2_uc001mka.2_Missense_Mutation_p.R927K|MICAL2_uc010rci.1_Missense_Mutation_p.R927K|MICAL2_uc001mkb.2_Intron|MICAL2_uc001mkc.2_Intron|MICAL2_uc001mkd.2_Intron|MICAL2_uc010rcj.1_Intron|MICAL2_uc001mkf.2_RNA	p.R927K	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	21	3068	+			927					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.2780G>A	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621629	0.28889	.	.	ENSG00000133816	ENST00000256194;ENST00000342902	T;T	0.60299	0.2;0.21	5.26	4.35	0.52113	.	0.606920	0.15037	N	0.284110	T	0.41143	0.1146	L	0.27053	0.805	0.80722	D	1	B;B	0.31290	0.318;0.255	B;B	0.32149	0.141;0.071	T	0.11372	-1.0590	10	0.09590	T	0.72	.	10.6713	0.45760	0.156:0.0:0.844:0.0	.	927;927	G3XAC8;O94851	.;MICA2_HUMAN	K	927	ENSP00000256194:R927K;ENSP00000344894:R927K	ENSP00000256194:R927K	R	+	2	0	MICAL2	12222231	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	2.827000	0.48112	1.354000	0.45846	0.563000	0.77884	AGA		0.502	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1		NM_014632		14	187	0	0	0	0.0333	0	14	187		
ABCC8	6833	broad.mit.edu	37	11	17474774	17474774	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:17474774G>A	ENST00000389817.3	-	7	1136	c.1068C>T	c.(1066-1068)taC>taT	p.Y356Y	ABCC8_ENST00000302539.4_Silent_p.Y356Y			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	356	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.Y356Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	CAGCTAAGACGTAGGCATTGG	0.458																																						uc001mnc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(1066-1068)TAC>TAT		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						169.0	155.0	160.0					11																	17474774		2200	4293	6493	SO:0001819	synonymous_variant	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17474774G>A	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.1068C>T	11.37:g.17474774G>A						ABCC8_uc010rcy.1_Silent_p.Y355Y	p.Y356Y	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	7	1194	-			356			Helical; Name=7; (By similarity).|ABC transmembrane type-1 1.		A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	ENST00000389817.3	37	c.1068C>T	CCDS31437.1																																																																																				0.458	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1		NM_000352		4	70	0	0	0	0.014758	0	4	70		
LMO2	4005	broad.mit.edu	37	11	33886306	33886306	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:33886306G>T	ENST00000395833.3	-	2	528	c.99C>A	c.(97-99)tgC>tgA	p.C33*	LMO2_ENST00000257818.2_Nonsense_Mutation_p.C102*	NM_001142315.1|NM_001142316.1	NP_001135787.1|NP_001135788.1	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	33	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cellular response to thyroid hormone stimulus (GO:0097067)|embryonic hemopoiesis (GO:0035162)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|chromatin binding (GO:0003682)|cofactor binding (GO:0048037)|E-box binding (GO:0070888)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|zinc ion binding (GO:0008270)	p.C33*(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						TGTTCTGCTGGCAGCCGCCGC	0.627			T	TRD@	T-ALL																																	uc001mve.2		NaN		Dom	yes		11	11p13	4005	T	LIM domain only 2 (rhombotin-like 1) (RBTN2)			L	TRD@		T-ALL		1	Substitution - Nonsense(1)		urinary_tract(1)	lung(1)	1						c.(97-99)TGC>TGA		LIM domain only 2 isoform 2							59.0	51.0	54.0					11																	33886306		2202	4298	6500	SO:0001587	stop_gained	4005				multicellular organismal development	nucleus	protein binding|zinc ion binding	g.chr11:33886306G>T	X61118	CCDS7888.2, CCDS44567.1	11p13	2008-07-18			ENSG00000135363	ENSG00000135363			6642	protein-coding gene	gene with protein product	"""T-cell translocation gene 2"", ""rhombotin-like 1"""	180385		RBTNL1		2034676	Standard	NM_005574		Approved	TTG2, RHOM2, RBTN2	uc010rem.2	P25791	OTTHUMG00000157176	ENST00000395833.3:c.99C>A	11.37:g.33886306G>T	ENSP00000379175:p.Cys33*					LMO2_uc001mvc.2_Nonsense_Mutation_p.C26*|LMO2_uc001mvd.2_Nonsense_Mutation_p.C26*|LMO2_uc010rel.1_Nonsense_Mutation_p.C33*|LMO2_uc010rem.1_Nonsense_Mutation_p.C102*	p.C33*	NM_001142316	NP_001135788	P25791	RBTN2_HUMAN			2	538	-			33			LIM zinc-binding 1.		Q9HD58	Nonsense_Mutation	SNP	ENST00000395833.3	37	c.99C>A	CCDS44567.1	.	.	.	.	.	.	.	.	.	.	G	43	10.277286	0.99373	.	.	ENSG00000135363	ENST00000395833;ENST00000257818	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.584	0.95484	0.0:0.0:1.0:0.0	.	.	.	.	X	33;102	.	ENSP00000257818:C102X	C	-	3	2	LMO2	33842882	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.894000	0.56250	2.704000	0.92352	0.650000	0.86243	TGC		0.627	LMO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347777.1		NM_005574		6	48	1	0	5.9392e-07	0.021553	6.62638e-07	6	48		
TM7SF2	7108	broad.mit.edu	37	11	64883439	64883439	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:64883439G>C	ENST00000279263.7	+	10	1333	c.1171G>C	c.(1171-1173)Gag>Cag	p.E391Q	AP003068.12_ENST00000527789.1_RNA|TM7SF2_ENST00000540748.1_Missense_Mutation_p.E275Q|TM7SF2_ENST00000345348.5_Missense_Mutation_p.E364Q	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	391					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	delta14-sterol reductase activity (GO:0050613)	p.E391Q(1)		lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGCCCGGGATGAGCGGCAGTG	0.622																																						uc001oct.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1171-1173)GAG>CAG		transmembrane 7 superfamily member 2							44.0	50.0	48.0					11																	64883439		2090	4201	6291	SO:0001583	missense	7108				cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity	g.chr11:64883439G>C	BC012857	CCDS41669.1, CCDS60846.1	11q13.1	2013-05-23			ENSG00000149809	ENSG00000149809	1.3.1.70		11863	protein-coding gene	gene with protein product	"""delta(14)-sterol reductase"""	603414				9615229, 9286704	Standard	NM_003273		Approved	ANG1, DHCR14A, NET47	uc001oct.4	O76062	OTTHUMG00000165603	ENST00000279263.7:c.1171G>C	11.37:g.64883439G>C	ENSP00000279263:p.Glu391Gln					TM7SF2_uc010rny.1_Missense_Mutation_p.E275Q|TM7SF2_uc001ocu.2_Missense_Mutation_p.E364Q|TM7SF2_uc001ocv.2_Missense_Mutation_p.E412Q|uc009yqb.1_5'Flank	p.E391Q	NM_003273	NP_003264	O76062	ERG24_HUMAN			10	1318	+			391					A8K4H0|O95982|Q8IY06|Q96E64|Q96GZ1	Missense_Mutation	SNP	ENST00000279263.7	37	c.1171G>C	CCDS41669.1	.	.	.	.	.	.	.	.	.	.	G	33	5.212347	0.95069	.	.	ENSG00000149809	ENST00000279263;ENST00000540748;ENST00000345348	D;D;D	0.98090	-4.71;-4.71;-4.71	5.53	4.6	0.57074	Sterol reductase, conserved site (1);	0.049951	0.85682	N	0.000000	D	0.98648	0.9547	M	0.86420	2.815	0.54753	D	0.99998	D;D;D	0.71674	0.996;0.998;0.998	P;D;D	0.76575	0.908;0.979;0.988	D	0.98977	1.0803	10	0.41790	T	0.15	-10.5947	13.9692	0.64228	0.0:0.1529:0.8471:0.0	.	275;364;391	F5GYV3;O76062-2;O76062	.;.;ERG24_HUMAN	Q	391;275;364	ENSP00000279263:E391Q;ENSP00000441215:E275Q;ENSP00000329520:E364Q	ENSP00000279263:E391Q	E	+	1	0	TM7SF2	64640015	1.000000	0.71417	0.949000	0.38748	0.992000	0.81027	9.580000	0.98207	1.534000	0.49203	0.655000	0.94253	GAG		0.622	TM7SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385234.1		NM_003273		4	36	0	0	0	0.009096	0	4	36		
MOGAT2	80168	broad.mit.edu	37	11	75439097	75439097	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:75439097G>A	ENST00000198801.5	+	4	628	c.558G>A	c.(556-558)ggG>ggA	p.G186G	MOGAT2_ENST00000526712.1_Silent_p.G104G	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	186					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)	p.G186G(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TCATTGTAGGGGGTGCCCAGG	0.562																																						uc010rru.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(556-558)GGG>GGA		monoacylglycerol O-acyltransferase 2							65.0	59.0	61.0					11																	75439097		2200	4293	6493	SO:0001819	synonymous_variant	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75439097G>A	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.558G>A	11.37:g.75439097G>A						MOGAT2_uc001oww.1_Silent_p.G186G|MOGAT2_uc010rrv.1_Silent_p.G104G	p.G186G	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN			4	558	+	Ovarian(111;0.103)		186					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Silent	SNP	ENST00000198801.5	37	c.558G>A	CCDS8240.1																																																																																				0.562	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1		NM_025098		3	38	0	0	0	0.004672	0	3	38		
PCF11	51585	broad.mit.edu	37	11	82877725	82877725	+	Silent	SNP	A	A	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:82877725A>C	ENST00000298281.4	+	5	2238	c.1786A>C	c.(1786-1788)Aga>Cga	p.R596R		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	596					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.R695R(1)|p.R596R(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTCTGCCAAAAGATGGAAATC	0.348																																						uc001ozx.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(1786-1788)AGA>CGA		pre-mRNA cleavage complex II protein Pcf11							73.0	75.0	74.0					11																	82877725		1759	3852	5611	SO:0001819	synonymous_variant	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877725A>C	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1786A>C	11.37:g.82877725A>C						PCF11_uc010rsu.1_Silent_p.R596R	p.R596R	NM_015885	NP_056969	O94913	PCF11_HUMAN			5	2131	+			596					A6H8W7|O43671|Q6P0X8	Silent	SNP	ENST00000298281.4	37	c.1786A>C	CCDS44689.1																																																																																				0.348	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2		NM_015885		4	75	0	0	0	0.014758	0	4	75		
FAT3	120114	broad.mit.edu	37	11	92087450	92087450	+	Nonsense_Mutation	SNP	T	T	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:92087450T>G	ENST00000298047.6	+	1	2189	c.2172T>G	c.(2170-2172)taT>taG	p.Y724*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.Y724*|FAT3_ENST00000541502.1_Nonsense_Mutation_p.Y724*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.Y574*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	724					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y724*(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGGGACCATATTTTGACAAGT	0.403										TCGA Ovarian(4;0.039)																												uc001pdj.3		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(4)|pancreas(1)	5						c.(2170-2172)TAT>TAG		FAT tumor suppressor homolog 3							166.0	170.0	168.0					11																	92087450		1856	4112	5968	SO:0001587	stop_gained	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087450T>G	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2172T>G	11.37:g.92087450T>G	ENSP00000298047:p.Tyr724*	TCGA Ovarian(4;0.039)					p.Y724*	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	2189	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	724			Extracellular (Potential).		B5MDB0|Q96AU6	Nonsense_Mutation	SNP	ENST00000298047.6	37	c.2172T>G		.	.	.	.	.	.	.	.	.	.	T	38	6.777797	0.97833	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	.	.	.	5.47	-2.22	0.06952	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	5.4809	0.16723	0.0:0.2179:0.2458:0.5364	.	.	.	.	X	724;724;724;574	.	ENSP00000298047:Y724X	Y	+	3	2	FAT3	91727098	0.994000	0.37717	0.991000	0.47740	0.982000	0.71751	0.138000	0.16016	-0.271000	0.09272	0.383000	0.25322	TAT		0.403	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781		18	155	0	0	0	0.010504	0	18	155		
CCDC67	159989	broad.mit.edu	37	11	93103298	93103298	+	Silent	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:93103298G>C	ENST00000298050.3	+	6	592	c.492G>C	c.(490-492)ctG>ctC	p.L164L		NM_181645.3	NP_857596.2	Q05D60	DEUP1_HUMAN	coiled-coil domain containing 67	164					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)	cytoplasm (GO:0005737)|deuterosome (GO:0098536)		p.L156L(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AGACTCATCTGATTTCTTTAG	0.289																																						uc001pdq.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(490-492)CTG>CTC		coiled-coil domain containing 67							56.0	56.0	56.0					11																	93103298		1805	4066	5871	SO:0001819	synonymous_variant	159989							g.chr11:93103298G>C	AK058122	CCDS44707.1	11q21	2014-02-20				ENSG00000165325			26344	protein-coding gene	gene with protein product						24240477	Standard	NM_181645		Approved	FLJ25393	uc001pdq.3	Q05D60		ENST00000298050.3:c.492G>C	11.37:g.93103298G>C						CCDC67_uc001pdo.1_Silent_p.L164L|CCDC67_uc001pdp.2_Silent_p.L164L	p.L164L	NM_181645	NP_857596	Q05D60	CCD67_HUMAN			6	592	+		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)	164			Potential.		Q8NEF1|Q96LL7	Silent	SNP	ENST00000298050.3	37	c.492G>C	CCDS44707.1																																																																																				0.289	CCDC67-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_181645		5	14	0	0	0	0.014758	0	5	14		
CASP5	838	broad.mit.edu	37	11	104868181	104868181	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:104868181A>C	ENST00000260315.3	-	8	1134	c.1135T>G	c.(1135-1137)Ttc>Gtc	p.F379V	CASP5_ENST00000531367.1_Missense_Mutation_p.F237V|CASP5_ENST00000393141.2_Missense_Mutation_p.F392V|CASP5_ENST00000526056.1_Missense_Mutation_p.F392V|CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000418434.1_Missense_Mutation_p.F237V|CASP5_ENST00000444749.2_Missense_Mutation_p.F321V			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	379					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.F392V(1)|p.F363V(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TCCGTAATGAAGATGGAGCCC	0.418																																						uc010rva.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|lung(1)	3						c.(1135-1137)TTC>GTC		caspase 5 isoform a precursor							105.0	97.0	100.0					11																	104868181		2202	4299	6501	SO:0001583	missense	838				apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding	g.chr11:104868181A>C		CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.1135T>G	11.37:g.104868181A>C	ENSP00000260315:p.Phe379Val					CASP5_uc010ruz.1_Missense_Mutation_p.F392V|CASP5_uc010rvb.1_Missense_Mutation_p.F321V|CASP5_uc010rvc.1_Missense_Mutation_p.F237V|CASP5_uc009yxh.2_Missense_Mutation_p.F161V|CASP5_uc010rvd.1_Missense_Mutation_p.F161V	p.F379V	NM_004347	NP_004338	P51878	CASP5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)	8	1167	-		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)	379					B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Missense_Mutation	SNP	ENST00000260315.3	37	c.1135T>G	CCDS8328.2	.	.	.	.	.	.	.	.	.	.	A	15.87	2.961218	0.53400	.	.	ENSG00000137757	ENST00000393141;ENST00000418434;ENST00000260315;ENST00000444749;ENST00000526056;ENST00000531367	T;T;T;T;T;T	0.05855	3.38;3.38;3.38;3.38;3.38;3.38	3.6	3.6	0.41247	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	0.196019	0.44097	D	0.000495	T	0.33933	0.0880	H	0.97131	3.945	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.40327	-0.9569	10	0.87932	D	0	.	8.7654	0.34700	1.0:0.0:0.0:0.0	.	237;321;379;392	P51878-3;P51878-2;P51878;P51878-5	.;.;CASP5_HUMAN;.	V	392;237;379;321;392;237	ENSP00000376849:F392V;ENSP00000398130:F237V;ENSP00000260315:F379V;ENSP00000388365:F321V;ENSP00000436877:F392V;ENSP00000434471:F237V	ENSP00000260315:F379V	F	-	1	0	CASP5	104373391	0.998000	0.40836	0.275000	0.24674	0.013000	0.08279	4.774000	0.62339	1.632000	0.50472	0.421000	0.28195	TTC		0.418	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2		NM_004347		6	39	0	0	0	0.02938	0	6	39		
ARCN1	372	broad.mit.edu	37	11	118452000	118452000	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:118452000G>A	ENST00000264028.4	+	2	138	c.43G>A	c.(43-45)Gct>Act	p.A15T	ARCN1_ENST00000359415.4_Missense_Mutation_p.A56T|ARCN1_ENST00000534182.2_Missense_Mutation_p.A15T|ARCN1_ENST00000392859.3_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	15					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.A15T(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGCAGGAAAGGCTATTGTTTC	0.428																																						uc001ptq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(43-45)GCT>ACT		archain isoform 1							129.0	120.0	123.0					11																	118452000		2200	4295	6495	SO:0001583	missense	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118452000G>A	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.43G>A	11.37:g.118452000G>A	ENSP00000264028:p.Ala15Thr					ARCN1_uc009zah.2_Missense_Mutation_p.A15T|ARCN1_uc010ryg.1_Intron|ARCN1_uc009zag.2_Missense_Mutation_p.A56T	p.A15T	NM_001655	NP_001646	P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	2	204	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	15					B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	c.43G>A	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	G	17.32	3.361034	0.61403	.	.	ENSG00000095139	ENST00000359415;ENST00000542521;ENST00000534182;ENST00000264028	T;T	0.34667	1.35;1.37	5.55	4.64	0.57946	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	L	0.35723	1.085	0.80722	D	1	B;B;D	0.53151	0.06;0.117;0.958	B;B;P	0.54856	0.069;0.206;0.762	T	0.12016	-1.0564	10	0.26408	T	0.33	-12.7656	14.4567	0.67420	0.0706:0.0:0.9294:0.0	.	15;56;15	E9PK34;B0YIW6;P48444	.;.;COPD_HUMAN	T	56;15;15;15	ENSP00000352385:A56T;ENSP00000264028:A15T	ENSP00000264028:A15T	A	+	1	0	ARCN1	117957210	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.390000	0.97246	1.371000	0.46172	0.643000	0.83706	GCT		0.428	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1				12	109	0	0	0	0.020292	0	12	109		
IGSF9B	22997	broad.mit.edu	37	11	133794727	133794727	+	Missense_Mutation	SNP	C	C	T	rs201162330		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr11:133794727C>T	ENST00000321016.8	-	15	2337	c.2107G>A	c.(2107-2109)Gtc>Atc	p.V703I	IGSF9B_ENST00000533871.2_Missense_Mutation_p.V703I			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	703	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.V159I(1)|p.V703I(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTGCTGGAGACGCCGGCGATG	0.562																																						uc001qgx.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(2107-2109)GTC>ATC		immunoglobulin superfamily, member 9B							96.0	105.0	102.0					11																	133794727		2040	4182	6222	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133794727C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2107G>A	11.37:g.133794727C>T	ENSP00000317980:p.Val703Ile					IGSF9B_uc001qgy.1_Missense_Mutation_p.V545I	p.V703I	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	15	2338	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	703			Fibronectin type-III 2.|Extracellular (Potential).		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.2107G>A		.	.	.	.	.	.	.	.	.	.	C	24.0	4.483313	0.84854	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.67865	0.03;-0.29;0.13	5.17	5.17	0.71159	Fibronectin, type III (2);	0.000000	0.36374	N	0.002623	T	0.67344	0.2883	L	0.43152	1.355	0.49687	D	0.999816	P	0.52692	0.955	P	0.48454	0.578	T	0.65154	-0.6237	10	0.31617	T	0.26	.	19.0403	0.92995	0.0:1.0:0.0:0.0	.	703	Q9UPX0	TUTLB_HUMAN	I	703;545;703	ENSP00000317980:V703I;ENSP00000436552:V545I;ENSP00000436576:V703I	ENSP00000317980:V703I	V	-	1	0	IGSF9B	133299937	1.000000	0.71417	0.986000	0.45419	0.961000	0.63080	7.637000	0.83313	2.574000	0.86865	0.655000	0.94253	GTC		0.562	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			XM_290502		4	94	0	0	0	0.014758	0	4	94		
SCNN1A	6337	broad.mit.edu	37	12	6483849	6483849	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:6483849T>C	ENST00000228916.2	-	2	199	c.101A>G	c.(100-102)gAa>gGa	p.E34G	SCNN1A_ENST00000396966.2_Missense_Mutation_p.E34G|SCNN1A_ENST00000358945.3_Missense_Mutation_p.E34G|LTBR_ENST00000539925.1_5'Flank|SCNN1A_ENST00000543768.1_Missense_Mutation_p.E57G|SCNN1A_ENST00000360168.3_Missense_Mutation_p.E93G|SCNN1A_ENST00000538979.1_Intron	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	34					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)	p.E34G(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CGCCGCAGGTTCGGGGCCCAG	0.642																																						uc001qnx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(100-102)GAA>GGA		sodium channel, nonvoltage-gated 1 alpha isoform	Amiloride(DB00594)|Triamterene(DB00384)						40.0	39.0	39.0					12																	6483849		2203	4300	6503	SO:0001583	missense	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6483849T>C	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.101A>G	12.37:g.6483849T>C	ENSP00000228916:p.Glu34Gly					SCNN1A_uc001qnw.2_Missense_Mutation_p.E93G|SCNN1A_uc010sfb.1_Missense_Mutation_p.E57G|LTBR_uc010sfc.1_5'Flank	p.E34G	NM_001038	NP_001029	P37088	SCNNA_HUMAN			2	390	-			34			Cytoplasmic (By similarity).		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	c.101A>G	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.675292	0.29783	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000228916;ENST00000396966;ENST00000543768;ENST00000536788	T;T;T;T;T;D	0.85702	-0.57;-0.55;-0.49;-0.18;-0.54;-2.02	4.92	2.53	0.30540	.	0.441651	0.21758	N	0.069577	T	0.80412	0.4618	L	0.60455	1.87	0.09310	N	1	P;P;P	0.46395	0.877;0.455;0.763	B;B;B	0.43360	0.417;0.111;0.229	T	0.72743	-0.4201	10	0.62326	D	0.03	-14.6399	4.3639	0.11215	0.0:0.1035:0.2049:0.6916	.	57;34;93	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	G	93;34;34;34;57;55	ENSP00000353292:E93G;ENSP00000351825:E34G;ENSP00000228916:E34G;ENSP00000380166:E34G;ENSP00000438739:E57G;ENSP00000443434:E55G	ENSP00000228916:E34G	E	-	2	0	SCNN1A	6354110	0.001000	0.12720	0.001000	0.08648	0.014000	0.08584	1.021000	0.30040	0.709000	0.31976	0.402000	0.26972	GAA		0.642	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1				3	34	0	0	0	0.004672	0	3	34		
CLEC1B	51266	broad.mit.edu	37	12	10149501	10149501	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:10149501G>A	ENST00000298527.6	-	4	561	c.382C>T	c.(382-384)Cag>Tag	p.Q128*	CLEC1B_ENST00000428126.2_Nonsense_Mutation_p.Q95*|CLEC1B_ENST00000348658.4_Nonsense_Mutation_p.Q95*	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	128	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.Q32*(1)|p.Q128*(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						GTGCAGTACTGCTTACTCTCT	0.423																																						uc001qwu.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)		0						c.(382-384)CAG>TAG		C-type lectin domain family 1, member B isoform							186.0	165.0	172.0					12																	10149501		1893	4139	6032	SO:0001587	stop_gained	51266				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity	g.chr12:10149501G>A	AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.382C>T	12.37:g.10149501G>A	ENSP00000298527:p.Gln128*					CLEC1B_uc009zhd.2_Nonsense_Mutation_p.Q95*	p.Q128*	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN			4	582	-			128			C-type lectin.|Extracellular (Potential).		Q6UWX7|Q8NHR6	Nonsense_Mutation	SNP	ENST00000298527.6	37	c.382C>T	CCDS41752.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524428	0.64747	.	.	ENSG00000165682	ENST00000398937;ENST00000428126;ENST00000298527;ENST00000348658;ENST00000398939	.	.	.	4.05	-2.33	0.06724	.	0.927767	0.09066	N	0.853623	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	2.6442	0.04979	0.0988:0.1443:0.2839:0.4731	.	.	.	.	X	35;95;128;95;32	.	ENSP00000298527:Q128X	Q	-	1	0	CLEC1B	10040768	0.063000	0.20901	0.014000	0.15608	0.422000	0.31414	0.205000	0.17356	-0.297000	0.08934	0.491000	0.48974	CAG		0.423	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399922.1		NM_016509		6	127	0	0	0	0.021553	0	6	127		
ETV6	2120	broad.mit.edu	37	12	12037408	12037408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:12037408C>T	ENST00000396373.4	+	6	1313	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	347					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q347*(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TTACGTCTATCAGTTGCTTTC	0.443			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	uc001qzz.2		NaN		Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5		congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL	ETV6/NTRK3(234)|ETV6/JAK2(11)	1	Substitution - Nonsense(1)		urinary_tract(1)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250						c.(1039-1041)CAG>TAG		ets variant 6							181.0	161.0	168.0					12																	12037408		2203	4300	6503	SO:0001587	stop_gained	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12037408C>T	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1039C>T	12.37:g.12037408C>T	ENSP00000379658:p.Gln347*					ETV6_uc001raa.1_Intron	p.Q347*	NM_001987	NP_001978	P41212	ETV6_HUMAN			6	1313	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	347			ETS.		A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Nonsense_Mutation	SNP	ENST00000396373.4	37	c.1039C>T	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	C	40	8.086331	0.98646	.	.	ENSG00000139083	ENST00000396373	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.5865	0.95492	0.0:1.0:0.0:0.0	.	.	.	.	X	347	.	ENSP00000379658:Q347X	Q	+	1	0	ETV6	11928675	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.723000	0.93209	0.655000	0.94253	CAG		0.443	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2		NM_001987		14	136	0	0	0	0.028581	0	14	136		
AMN1	196394	broad.mit.edu	37	12	31850769	31850769	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:31850769C>T	ENST00000281471.6	-	4	604	c.439G>A	c.(439-441)Gat>Aat	p.D147N	AMN1_ENST00000542781.1_5'UTR|AMN1_ENST00000536761.1_Missense_Mutation_p.D129N|AMN1_ENST00000537562.1_Missense_Mutation_p.D129N|AMN1_ENST00000541931.1_5'UTR	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)	147								p.D147N(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			CCACCTAAATCGATGATCTTT	0.418																																						uc001rkq.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(439-441)GAT>AAT		antagonist of mitotic exit network 1 homolog							130.0	120.0	123.0					12																	31850769		1922	4150	6072	SO:0001583	missense	196394							g.chr12:31850769C>T		CCDS44858.1, CCDS61089.1	12p11.21	2010-07-19			ENSG00000151743	ENSG00000151743			27281	protein-coding gene	gene with protein product							Standard	NM_001113402		Approved		uc001rkq.4	Q8IY45	OTTHUMG00000169192	ENST00000281471.6:c.439G>A	12.37:g.31850769C>T	ENSP00000281471:p.Asp147Asn					AMN1_uc001rko.3_Missense_Mutation_p.D129N|AMN1_uc010skc.1_Missense_Mutation_p.D129N|AMN1_uc001rkp.3_Missense_Mutation_p.D129N|AMN1_uc009zjs.2_RNA|AMN1_uc009zjt.1_RNA	p.D147N	NM_001113402	NP_001106873	Q8IY45	AMN1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0014)		4	605	-	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		147					B7Z7J3|Q6NVU4|Q86X98	Missense_Mutation	SNP	ENST00000281471.6	37	c.439G>A	CCDS44858.1	.	.	.	.	.	.	.	.	.	.	C	3.805	-0.040984	0.07452	.	.	ENSG00000151743	ENST00000281471;ENST00000537562;ENST00000536761;ENST00000535408	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	5.32	4.43	0.53597	.	0.279106	0.36066	N	0.002808	T	0.06371	0.0164	N	0.13352	0.335	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.24012	-1.0172	10	0.09338	T	0.73	.	6.2982	0.21097	0.0:0.6817:0.0:0.3183	.	147	Q8IY45	AMN1_HUMAN	N	147;129;129;129	ENSP00000281471:D147N;ENSP00000441419:D129N;ENSP00000440967:D129N;ENSP00000438990:D129N	ENSP00000281471:D147N	D	-	1	0	AMN1	31742036	1.000000	0.71417	0.846000	0.33378	0.984000	0.73092	1.956000	0.40382	1.240000	0.43803	0.455000	0.32223	GAT		0.418	AMN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402807.2		NR_004854		4	75	0	0	0	0.009096	0	4	75		
PCED1B	91523	broad.mit.edu	37	12	47472350	47472350	+	5'Flank	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:47472350G>T	ENST00000546455.1	+	0	0				AMIGO2_ENST00000550413.1_Missense_Mutation_p.L146I|AMIGO2_ENST00000321382.3_Missense_Mutation_p.L146I|AMIGO2_ENST00000266581.4_Missense_Mutation_p.L146I|AMIGO2_ENST00000429635.1_Missense_Mutation_p.L146I			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)	p.L146I(1)									TAAAGCAGAAGCACTTCCAGA	0.408																																						uc001rpm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(436-438)CTT>ATT		adhesion molecule with Ig-like domain 2							121.0	121.0	121.0					12																	47472350		2203	4300	6503	SO:0001631	upstream_gene_variant	347902				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		g.chr12:47472350G>T	BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472350G>T	Exception_encountered					FAM113B_uc001rpn.2_5'Flank|AMIGO2_uc001rpk.2_Missense_Mutation_p.L146I|AMIGO2_uc001rpl.2_Missense_Mutation_p.L146I	p.L146I	NM_001143668	NP_001137140	Q86SJ2	AMGO2_HUMAN			3	1091	-	Renal(347;0.138)|Lung SC(27;0.192)		146			Extracellular (Potential).|LRR 4.		Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	c.436C>A	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.653990	0.88056	.	.	ENSG00000139211	ENST00000266581;ENST00000550413;ENST00000429635;ENST00000321382	T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.88009	0.6322	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88504	0.3084	10	0.59425	D	0.04	-13.6979	17.7901	0.88550	0.0:0.0:1.0:0.0	.	146	Q86SJ2	AMGO2_HUMAN	I	146	ENSP00000266581:L146I;ENSP00000449034:L146I;ENSP00000406020:L146I;ENSP00000320848:L146I	ENSP00000266581:L146I	L	-	1	0	AMIGO2	45758617	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.615000	0.74201	2.611000	0.88343	0.655000	0.94253	CTT		0.408	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1		NM_138371		8	107	1	0	5.18039e-06	0.00308	5.6858e-06	8	107		
ASIC1	41	broad.mit.edu	37	12	50453726	50453726	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:50453726G>A	ENST00000447966.2	+	3	776	c.547G>A	c.(547-549)Gac>Aac	p.D183N	ASIC1_ENST00000228468.4_Missense_Mutation_p.D183N	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	183					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)	p.D183N(1)								Amiloride(DB00594)|Diclofenac(DB00586)	CAGCGCTGAAGACTTCAAGGT	0.617																																						uc001rvw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(547-549)GAC>AAC		amiloride-sensitive cation channel 2, neuronal	Amiloride(DB00594)						58.0	51.0	54.0					12																	50453726		2203	4300	6503	SO:0001583	missense	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50453726G>A	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.547G>A	12.37:g.50453726G>A	ENSP00000400228:p.Asp183Asn					ACCN2_uc001rvv.2_Missense_Mutation_p.D183N|ACCN2_uc009zln.2_5'UTR|ACCN2_uc009zlo.2_Missense_Mutation_p.D183N	p.D183N	NM_001095	NP_001086	P78348	ACCN2_HUMAN			3	776	+			183			Extracellular (By similarity).		A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.547G>A	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	8.227	0.803846	0.16467	.	.	ENSG00000110881	ENST00000228468;ENST00000447966	T;T	0.64085	-0.08;-0.08	4.92	4.92	0.64577	.	0.138450	0.49916	D	0.000135	T	0.40694	0.1127	N	0.10645	0.015	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.12156	0.007;0.005	T	0.40608	-0.9554	10	0.02654	T	1	-34.9876	19.0059	0.92851	0.0:0.0:1.0:0.0	.	183;183	P78348;P78348-1	ACCN2_HUMAN;.	N	183	ENSP00000228468:D183N;ENSP00000400228:D183N	ENSP00000228468:D183N	D	+	1	0	ACCN2	48739993	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.789000	0.62446	2.674000	0.91012	0.655000	0.94253	GAC		0.617	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2		NM_020039		5	39	0	0	0	0.014758	0	5	39		
SLC4A8	9498	broad.mit.edu	37	12	51890800	51890800	+	Silent	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:51890800C>G	ENST00000453097.2	+	22	3190	c.2973C>G	c.(2971-2973)gtC>gtG	p.V991V	SLC4A8_ENST00000358657.3_Silent_p.V1018V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1			solute carrier family 4, sodium bicarbonate cotransporter, member 8									p.V991V(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCAGGAAAGTCATGGATCTCT	0.398																																						uc001rys.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)|pancreas(1)|skin(1)	5						c.(2971-2973)GTC>GTG		solute carrier family 4, sodium bicarbonate							89.0	93.0	92.0					12																	51890800		2203	4300	6503	SO:0001819	synonymous_variant	9498				bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity	g.chr12:51890800C>G	AB018282	CCDS44890.1, CCDS58232.1, CCDS58233.1, CCDS73470.1	12q13.13	2013-05-22			ENSG00000050438	ENSG00000050438		"""Solute carriers"""	11034	protein-coding gene	gene with protein product		605024				11133997	Standard	NM_001039960		Approved	NBC3	uc001rys.2	Q2Y0W8	OTTHUMG00000169489	ENST00000453097.2:c.2973C>G	12.37:g.51890800C>G						SLC4A8_uc001rym.2_Silent_p.V938V|SLC4A8_uc001ryn.2_Silent_p.V938V|SLC4A8_uc001ryo.2_Silent_p.V938V|SLC4A8_uc010snj.1_Silent_p.V1018V|SLC4A8_uc001ryr.2_Silent_p.V991V	p.V991V	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.15)	22	3151	+			991			Cytoplasmic (Potential).			Silent	SNP	ENST00000453097.2	37	c.2973C>G	CCDS44890.1																																																																																				0.398	SLC4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404356.1		NM_004858		5	75	0	0	0	0.021553	0	5	75		
RARG	5916	broad.mit.edu	37	12	53607445	53607445	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:53607445T>C	ENST00000425354.2	-	8	1340	c.853A>G	c.(853-855)Acc>Gcc	p.T285A	RARG_ENST00000394426.1_Missense_Mutation_p.T285A|RARG_ENST00000338561.5_Missense_Mutation_p.T274A|RARG_ENST00000543726.1_Missense_Mutation_p.T263A|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.T213A	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	285	Ligand-binding.				anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|embryonic camera-type eye development (GO:0031076)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|face development (GO:0060324)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage chondrocyte growth (GO:0003430)|Harderian gland development (GO:0070384)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of programmed cell death (GO:0043068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell size (GO:0008361)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|retinal pigment epithelium development (GO:0003406)|retinoic acid receptor signaling pathway (GO:0048384)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)	integral component of membrane (GO:0016021)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|retinoic acid receptor activity (GO:0003708)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.T285A(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tazarotene(DB00799)|Tretinoin(DB00755)	AAGGTCATGGTGTCCTGCTCT	0.597											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sce.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|ovary(1)|lung(1)	4						c.(853-855)ACC>GCC		retinoic acid receptor, gamma isoform 1	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)						106.0	94.0	98.0					12																	53607445		2203	4300	6503	SO:0001583	missense	5916				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:53607445T>C	M57707	CCDS8850.1, CCDS41790.1, CCDS58236.1, CCDS58237.1	12q13	2013-01-16			ENSG00000172819	ENSG00000172819		"""Nuclear hormone receptors"""	9866	protein-coding gene	gene with protein product		180190				1849262	Standard	NM_001042728		Approved	RARC, NR1B3	uc001scf.3	P13631	OTTHUMG00000048077	ENST00000425354.2:c.853A>G	12.37:g.53607445T>C	ENSP00000388510:p.Thr285Ala		OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	993	RARG_uc001scd.2_Missense_Mutation_p.T274A|RARG_uc010sob.1_Missense_Mutation_p.T263A|RARG_uc001scf.2_Missense_Mutation_p.T285A|RARG_uc001scg.2_Missense_Mutation_p.T213A|RARG_uc010soc.1_Missense_Mutation_p.T164A|RARG_uc010sod.1_Missense_Mutation_p.T322A	p.T285A	NM_000966	NP_000957	P13631	RARG_HUMAN			8	1338	-			285			Ligand-binding.		B7Z492|B7Z4F1|B7ZAE4|J3KNP6|P22932|Q15281|Q52LZ8|Q9BYX8|Q9H1I3|Q9UJ38	Missense_Mutation	SNP	ENST00000425354.2	37	c.853A>G	CCDS8850.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.904699	0.72868	.	.	ENSG00000172819	ENST00000425354;ENST00000394426;ENST00000538479;ENST00000327550;ENST00000338561;ENST00000543726;ENST00000550265	D;D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11;-4.11	4.86	4.86	0.63082	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.96956	0.9006	M	0.62723	1.935	0.58432	D	0.999999	D;D;D;D	0.71674	0.98;0.985;0.998;0.98	D;D;D;D	0.81914	0.929;0.983;0.995;0.956	D	0.95672	0.8724	10	0.11485	T	0.65	.	13.7289	0.62776	0.0:0.0:0.0:1.0	.	322;263;285;274	F8VR45;B7Z4F1;P13631;F1D8P1	.;.;RARG_HUMAN;.	A	285;285;47;213;274;263;322	ENSP00000388510:T285A;ENSP00000377947:T285A;ENSP00000332695:T213A;ENSP00000343698:T274A;ENSP00000444335:T263A	ENSP00000332695:T213A	T	-	1	0	RARG	51893712	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	7.994000	0.88315	1.950000	0.56595	0.260000	0.18958	ACC		0.597	RARG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109404.2		NM_000966		3	57	0	0	0	0.004672	0	3	57		
ZNF385A	25946	broad.mit.edu	37	12	54765456	54765456	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:54765456C>T	ENST00000338010.5	-	5	518	c.465G>A	c.(463-465)gaG>gaA	p.E155E	ZNF385A_ENST00000352268.6_Intron|ZNF385A_ENST00000394313.2_Silent_p.E135E|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551109.1_Silent_p.E135E|ZNF385A_ENST00000546970.1_Silent_p.E135E|ZNF385A_ENST00000551771.1_Intron	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	155	Necessary for binding to ITPR1, CEBPA and p53/TP53 mRNAs. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E135E(2)|p.E135D(2)|p.E155E(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CAGGCTGTTTCTCTGGGGATC	0.602																																						uc001sfw.1		NaN																	5	Substitution - coding silent(3)|Substitution - Missense(2)		urinary_tract(3)|large_intestine(2)	ovary(1)	1						c.(403-405)GAG>GAA		zinc finger protein 385A isoform c							48.0	54.0	52.0					12																	54765456		2203	4300	6503	SO:0001819	synonymous_variant	25946				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr12:54765456C>T	AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"""zinc finger protein 385"""	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.465G>A	12.37:g.54765456C>T						ZNF385A_uc001sfv.1_Silent_p.E116E|ZNF385A_uc009zno.1_Intron|ZNF385A_uc010sov.1_Intron|ZNF385A_uc001sfx.1_Silent_p.E135E|ZNF385A_uc001sfy.3_Silent_p.E155E|ZNF385A_uc001sfz.3_Intron	p.E135E	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN			4	588	-			135					B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Silent	SNP	ENST00000338010.5	37	c.405G>A	CCDS44911.1																																																																																				0.602	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406162.1		NM_015481		13	63	0	0	0	0.020292	0	13	63		
RNF41	10193	broad.mit.edu	37	12	56600547	56600547	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:56600547C>T	ENST00000345093.4	-	7	1007	c.638G>A	c.(637-639)cGc>cAc	p.R213H	RNF41_ENST00000394013.2_Missense_Mutation_p.R142H|RNF41_ENST00000552656.1_Missense_Mutation_p.R213H	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	213					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R213H(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						CCCTCCCCAGCGGGTCACTCT	0.537											OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001skf.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(637-639)CGC>CAC		ring finger protein 41 isoform 1							49.0	49.0	49.0					12																	56600547		2203	4300	6503	SO:0001583	missense	10193				apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:56600547C>T	AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"""RING-type (C3HC4) zinc fingers"""	18401	protein-coding gene	gene with protein product			"""ring finger protein 41"""				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.638G>A	12.37:g.56600547C>T	ENSP00000342755:p.Arg213His		OREG0021921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1016	RNF41_uc001ske.1_Missense_Mutation_p.R142H|RNF41_uc001skg.1_Missense_Mutation_p.R213H|RNF41_uc010sqg.1_Missense_Mutation_p.R148H|RNF41_uc010sqh.1_Missense_Mutation_p.R142H	p.R213H	NM_005785	NP_005776	Q9H4P4	RNF41_HUMAN			7	1007	-			213					A6NFW0|B2RBT8|O75598	Missense_Mutation	SNP	ENST00000345093.4	37	c.638G>A	CCDS8909.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.021412	0.93462	.	.	ENSG00000181852	ENST00000345093;ENST00000394013;ENST00000448057;ENST00000552656;ENST00000551711	T;T	0.09817	2.94;2.94	5.45	4.57	0.56435	USP8 interacting (1);	0.050148	0.85682	N	0.000000	T	0.13841	0.0335	M	0.62723	1.935	0.80722	D	1	P;P	0.48089	0.905;0.903	B;B	0.39904	0.186;0.313	T	0.02457	-1.1156	10	0.72032	D	0.01	.	13.4541	0.61189	0.0:0.9229:0.0:0.0771	.	200;213	B4E353;Q9H4P4	.;RNF41_HUMAN	H	213;142;200;213;142	ENSP00000342755:R213H;ENSP00000447303:R213H	ENSP00000342755:R213H	R	-	2	0	RNF41	54886814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.595000	0.82710	1.447000	0.47661	0.655000	0.94253	CGC		0.537	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408525.1		NM_005785		3	31	0	0	0	0.004672	0	3	31		
LGR5	8549	broad.mit.edu	37	12	71977788	71977788	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:71977788G>A	ENST00000266674.5	+	18	2309	c.1998G>A	c.(1996-1998)gtG>gtA	p.V666V	LGR5_ENST00000536515.1_Silent_p.V594V|RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000540815.2_Silent_p.V642V			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	666			V -> A (in dbSNP:rs17109924). {ECO:0000269|PubMed:15489334}.		G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.V666V(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GGTTCTCTGTGAAATATTCTG	0.463																																						uc001swl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(4)|skin(3)|ovary(1)|pancreas(1)	9						c.(1996-1998)GTG>GTA		leucine-rich repeat-containing G protein-coupled							134.0	133.0	133.0					12																	71977788		2203	4300	6503	SO:0001819	synonymous_variant	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71977788G>A	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1998G>A	12.37:g.71977788G>A						LGR5_uc001swm.2_Silent_p.V642V|LGR5_uc001swn.1_Intron	p.V666V	NM_003667	NP_003658	O75473	LGR5_HUMAN			18	2046	+			666			Cytoplasmic (Potential).		D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Silent	SNP	ENST00000266674.5	37	c.1998G>A	CCDS9000.1																																																																																				0.463	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1		NM_003667		13	142	0	0	0	0.016723	0	13	142		
TRHDE	29953	broad.mit.edu	37	12	73046177	73046177	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:73046177A>G	ENST00000261180.4	+	16	2712	c.2616A>G	c.(2614-2616)atA>atG	p.I872M		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	872					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I872M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGGAATTCATATGGATGAAAT	0.398																																						uc001sxa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(2614-2616)ATA>ATG		thyrotropin-releasing hormone degrading enzyme							106.0	102.0	104.0					12																	73046177		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:73046177A>G	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.2616A>G	12.37:g.73046177A>G	ENSP00000261180:p.Ile872Met						p.I872M	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			16	2646	+			872			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.2616A>G	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.785965	0.49997	.	.	ENSG00000072657	ENST00000261180	T	0.10192	2.9	5.04	-7.01	0.01594	.	0.097909	0.64402	N	0.000002	T	0.11922	0.0290	N	0.17872	0.535	0.53005	D	0.999969	D	0.71674	0.998	D	0.66196	0.942	T	0.05209	-1.0899	10	0.44086	T	0.13	.	12.2257	0.54459	0.1484:0.629:0.0:0.2226	.	872	Q9UKU6	TRHDE_HUMAN	M	872	ENSP00000261180:I872M	ENSP00000261180:I872M	I	+	3	3	TRHDE	71332444	0.942000	0.31987	0.985000	0.45067	0.998000	0.95712	0.099000	0.15210	-0.663000	0.05331	0.459000	0.35465	ATA		0.398	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1		NM_013381		6	74	0	0	0	0.021553	0	6	74		
HSP90B1	7184	broad.mit.edu	37	12	104336352	104336352	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:104336352G>A	ENST00000299767.5	+	12	1604	c.1422G>A	c.(1420-1422)aaG>aaA	p.K474K		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	474					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.K474K(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TGATCAAGAAGATTGCTGATG	0.363																																						uc001tkb.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(1420-1422)AAG>AAA		heat shock protein 90kDa beta, member 1	Rifabutin(DB00615)						84.0	83.0	83.0					12																	104336352		2203	4300	6503	SO:0001819	synonymous_variant	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104336352G>A	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1422G>A	12.37:g.104336352G>A						HSP90B1_uc010swg.1_Silent_p.K139K|HSP90B1_uc009zui.1_Intron	p.K474K	NM_003299	NP_003290	P14625	ENPL_HUMAN			12	1527	+			474					Q96A97	Silent	SNP	ENST00000299767.5	37	c.1422G>A	CCDS9094.1																																																																																				0.363	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1		NM_003299		4	54	0	0	0	0.009096	0	4	54		
HSP90B1	7184	broad.mit.edu	37	12	104336359	104336359	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:104336359G>T	ENST00000299767.5	+	12	1611	c.1429G>T	c.(1429-1431)Gat>Tat	p.D477Y		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	477					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.D477Y(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GAAGATTGCTGATGATAAATA	0.363																																						uc001tkb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(1429-1431)GAT>TAT		heat shock protein 90kDa beta, member 1	Rifabutin(DB00615)						87.0	86.0	86.0					12																	104336359		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104336359G>T	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1429G>T	12.37:g.104336359G>T	ENSP00000299767:p.Asp477Tyr					HSP90B1_uc010swg.1_Missense_Mutation_p.D142Y|HSP90B1_uc009zui.1_Intron	p.D477Y	NM_003299	NP_003290	P14625	ENPL_HUMAN			12	1534	+			477					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.1429G>T	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359195	0.82353	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.11169	2.8	6.06	6.06	0.98353	Ribosomal protein S5 domain 2-type fold (1);	0.192324	0.53938	D	0.000059	T	0.23532	0.0569	M	0.68317	2.08	0.49130	D	0.999753	D	0.53462	0.96	P	0.47864	0.559	T	0.00155	-1.1979	10	0.87932	D	0	.	20.6243	0.99512	0.0:0.0:1.0:0.0	.	477	P14625	ENPL_HUMAN	Y	477;227	ENSP00000299767:D477Y	ENSP00000299767:D477Y	D	+	1	0	HSP90B1	102860489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.971000	0.88012	2.879000	0.98667	0.650000	0.86243	GAT		0.363	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1		NM_003299		4	59	1	0	0.00909568	0.009096	0.00944551	4	59		
HSP90B1	7184	broad.mit.edu	37	12	104336567	104336567	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:104336567G>C	ENST00000299767.5	+	12	1819	c.1637G>C	c.(1636-1638)aGa>aCa	p.R546T		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	546					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)	p.R546T(1)		central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GGGTCCAGCAGAAAAGAGGTG	0.418																																						uc001tkb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(1636-1638)AGA>ACA		heat shock protein 90kDa beta, member 1	Rifabutin(DB00615)						72.0	66.0	68.0					12																	104336567		2203	4300	6503	SO:0001583	missense	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104336567G>C	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1637G>C	12.37:g.104336567G>C	ENSP00000299767:p.Arg546Thr					HSP90B1_uc010swg.1_Missense_Mutation_p.R211T|HSP90B1_uc009zui.1_Intron	p.R546T	NM_003299	NP_003290	P14625	ENPL_HUMAN			12	1742	+			546					Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	c.1637G>C	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789014	0.90367	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.10477	2.87	6.17	6.17	0.99709	Ribosomal protein S5 domain 2-type fold (1);	0.041660	0.85682	D	0.000000	T	0.42921	0.1224	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.39440	-0.9614	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	546	P14625	ENPL_HUMAN	T	546;296	ENSP00000299767:R546T	ENSP00000299767:R546T	R	+	2	0	HSP90B1	102860697	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	AGA		0.418	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1		NM_003299		6	71	0	0	0	0.021553	0	6	71		
CIT	11113	broad.mit.edu	37	12	120159203	120159203	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:120159203G>A	ENST00000261833.7	-	28	3569	c.3517C>T	c.(3517-3519)Ctg>Ttg	p.L1173L	CIT_ENST00000392521.2_Silent_p.L1215L|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1173	Interaction with Rho/Rac.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.L1215L(1)|p.L1173L(1)|p.L1216L(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCTTGAGTCAGACGGAAAATG	0.468																																						uc001txi.1		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)	ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(3517-3519)CTG>TTG		citron							177.0	156.0	163.0					12																	120159203		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120159203G>A	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3517C>T	12.37:g.120159203G>A						CIT_uc001txh.1_Silent_p.L707L|CIT_uc001txj.1_Silent_p.L1215L	p.L1173L	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	28	3570	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1173			Potential.|Interaction with Rho/Rac.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.3517C>T	CCDS9192.1																																																																																				0.468	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4		NM_007174		11	62	0	0	0	0.010729	0	11	62		
GLT1D1	144423	broad.mit.edu	37	12	129373237	129373237	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:129373237G>A	ENST00000442111.2	+	3	359	c.271G>A	c.(271-273)Gcc>Acc	p.A91T	GLT1D1_ENST00000537468.1_Missense_Mutation_p.A80T|GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000281703.6_Missense_Mutation_p.A91T			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	91					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)	p.A91T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		AAATGAAGATGCCAACCAGGC	0.438																																						uc010tbh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(238-240)GCC>ACC		glycosyltransferase 1 domain containing 1							107.0	95.0	99.0					12																	129373237		2203	4300	6503	SO:0001583	missense	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129373237G>A		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.271G>A	12.37:g.129373237G>A	ENSP00000394692:p.Ala91Thr					GLT1D1_uc001uhx.1_Missense_Mutation_p.A91T|GLT1D1_uc001uhy.1_RNA	p.A80T	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	3	247	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		91					Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37	c.238G>A		.	.	.	.	.	.	.	.	.	.	G	5.184	0.219492	0.09863	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.79352	-1.26;1.0;-1.26	5.4	3.32	0.38043	.	0.458103	0.23466	N	0.047880	T	0.51261	0.1664	N	0.04508	-0.205	0.19945	N	0.999943	B;B	0.15473	0.007;0.013	B;B	0.09377	0.003;0.004	T	0.33137	-0.9880	10	0.21540	T	0.41	-7.0012	6.7434	0.23449	0.2995:0.0:0.7005:0.0	.	80;91	F5H088;Q96MS3-2	.;.	T	91;91;80	ENSP00000394692:A91T;ENSP00000281703:A91T;ENSP00000438158:A80T	ENSP00000281703:A91T	A	+	1	0	GLT1D1	127939190	0.000000	0.05858	0.004000	0.12327	0.029000	0.11900	0.110000	0.15437	1.268000	0.44264	0.650000	0.86243	GCC		0.438	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1		NM_144669		4	23	0	0	0	0.009096	0	4	23		
GOLGA3	2802	broad.mit.edu	37	12	133374950	133374950	+	Silent	SNP	G	G	T	rs139706790		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr12:133374950G>T	ENST00000450791.2	-	8	2097	c.1914C>A	c.(1912-1914)atC>atA	p.I638I	GOLGA3_ENST00000204726.3_Silent_p.I638I|GOLGA3_ENST00000456883.2_Silent_p.I638I|GOLGA3_ENST00000545875.1_Silent_p.I638I|GOLGA3_ENST00000537452.1_Silent_p.I638I			Q08378	GOGA3_HUMAN	golgin A3	638	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.I638I(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCTGTGCCGCGATGCGCCCCT	0.587																																						uc001ukz.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1912-1914)ATC>ATA		Golgi autoantigen, golgin subfamily a, 3							109.0	98.0	102.0					12																	133374950		2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133374950G>T	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1914C>A	12.37:g.133374950G>T						GOLGA3_uc001ula.1_Silent_p.I638I|GOLGA3_uc001ulb.2_Silent_p.I638I	p.I638I	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	9	2473	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	638			Gln-rich.|Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.1914C>A	CCDS9281.1																																																																																				0.587	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2		NM_005895		7	87	1	0	8.12818e-05	0.02938	8.77844e-05	7	87		
TNFRSF19	55504	broad.mit.edu	37	13	24243107	24243107	+	Silent	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr13:24243107T>C	ENST00000382258.4	+	9	1320	c.1116T>C	c.(1114-1116)gcT>gcC	p.A372A	TNFRSF19_ENST00000248484.4_Silent_p.A372A|TNFRSF19_ENST00000403372.2_Silent_p.A240A|TNFRSF19_ENST00000382263.3_Silent_p.A372A	NM_018647.3	NP_061117.2	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	372					apoptotic process (GO:0006915)|hair follicle development (GO:0001942)|JNK cascade (GO:0007254)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)	tumor necrosis factor-activated receptor activity (GO:0005031)	p.A372A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TTACAGCAGCTACTGATTTAT	0.428																																						uc001uov.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	kidney(1)|skin(1)	2						c.(1114-1116)GCT>GCC		tumor necrosis factor receptor superfamily,							105.0	107.0	106.0					13																	24243107		2203	4300	6503	SO:0001819	synonymous_variant	55504				apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity	g.chr13:24243107T>C	AB040434	CCDS9301.1, CCDS9302.1, CCDS55893.1	13q12.11-q12.3	2008-07-18			ENSG00000127863	ENSG00000127863		"""Tumor necrosis factor receptor superfamily"""	11915	protein-coding gene	gene with protein product	"""toxicity and JNK inducer"""	606122				10764796, 10809768	Standard	NM_018647		Approved	TAJ-alpha, TROY, TAJ, TRADE	uc001uov.2	Q9NS68	OTTHUMG00000016568	ENST00000382258.4:c.1116T>C	13.37:g.24243107T>C						TNFRSF19_uc001uot.2_Silent_p.A372A|TNFRSF19_uc010tcu.1_Silent_p.A240A|TNFRSF19_uc001uow.2_Silent_p.A372A	p.A372A	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)	9	1180	+		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	372			Cytoplasmic (Potential).		A8KA09|A8KA26|B1AM40|B1AM41|B4E2I6|Q9BXZ9|Q9BY00|Q9NZV2	Silent	SNP	ENST00000382258.4	37	c.1116T>C	CCDS9302.1																																																																																				0.428	TNFRSF19-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044156.2		NM_018647		3	86	0	0	0	0.004672	0	3	86		
AMER2	219287	broad.mit.edu	37	13	25744014	25744014	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr13:25744014A>T	ENST00000515384.1	-	1	2411	c.1744T>A	c.(1744-1746)Tcc>Acc	p.S582T	AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000357816.2_Missense_Mutation_p.S463T|AMER2_ENST00000381853.3_Missense_Mutation_p.S463T			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	582					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.S463T(1)|p.S582T(1)									TTTAACCGGGACAGGGAGGAC	0.567																																						uc001uqb.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|large_intestine(1)|lung(1)	4						c.(1744-1746)TCC>ACC		hypothetical protein LOC219287 isoform 1							139.0	121.0	127.0					13																	25744014		2203	4300	6503	SO:0001583	missense	219287							g.chr13:25744014A>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1744T>A	13.37:g.25744014A>T	ENSP00000426528:p.Ser582Thr					FAM123A_uc001uqa.2_Missense_Mutation_p.S463T|FAM123A_uc001uqc.2_Missense_Mutation_p.S463T	p.S582T	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1844	-		Lung SC(185;0.0225)|Breast(139;0.0602)	582					Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.1744T>A	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.308081	0.40895	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.26067	1.76;1.76;1.76	5.31	4.12	0.48240	.	0.279464	0.35013	N	0.003511	T	0.20659	0.0497	L	0.50333	1.59	0.30196	N	0.79907	P;B	0.35192	0.489;0.131	B;B	0.34138	0.176;0.055	T	0.12837	-1.0532	10	0.33940	T	0.23	-31.3317	6.3416	0.21327	0.7514:0.1625:0.086:0.0	.	582;463	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	T	463;463;582	ENSP00000350469:S463T;ENSP00000371277:S463T;ENSP00000426528:S582T	ENSP00000350469:S463T	S	-	1	0	FAM123A	24642014	0.028000	0.19301	0.914000	0.36105	0.975000	0.68041	0.184000	0.16939	1.018000	0.39521	0.459000	0.35465	TCC		0.567	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1		NM_152704		3	70	0	0	0	0.021553	0	3	70		
VWA8	23078	broad.mit.edu	37	13	42385394	42385394	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr13:42385394A>C	ENST00000379310.3	-	17	2098	c.2030T>G	c.(2029-2031)cTt>cGt	p.L677R	VWA8_ENST00000281496.6_Missense_Mutation_p.L677R	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	677						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L677R(1)									AGCACTGTGAAGATTTTCATT	0.383																																						uc001uyj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(2029-2031)CTT>CGT		hypothetical protein LOC23078 isoform a							119.0	124.0	122.0					13																	42385394		2203	4300	6503	SO:0001583	missense	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42385394A>C	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.2030T>G	13.37:g.42385394A>C	ENSP00000368612:p.Leu677Arg					KIAA0564_uc001uyk.2_Missense_Mutation_p.L677R	p.L677R	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	17	2100	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	677					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.2030T>G	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.405147	0.83230	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.41758	0.99;0.99	5.37	5.37	0.77165	.	0.065284	0.64402	D	0.000007	T	0.63331	0.2502	M	0.82630	2.6	0.58432	D	0.999998	D	0.55605	0.972	P	0.58780	0.845	T	0.68557	-0.5377	10	0.54805	T	0.06	.	15.0283	0.71687	1.0:0.0:0.0:0.0	.	677	A3KMH1	K0564_HUMAN	R	581;677;677	ENSP00000368612:L677R;ENSP00000281496:L677R	ENSP00000251030:L581R	L	-	2	0	KIAA0564	41283394	1.000000	0.71417	0.997000	0.53966	0.929000	0.56500	7.877000	0.87225	2.034000	0.60081	0.477000	0.44152	CTT		0.383	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2		NM_015058		6	53	0	0	0	0.02938	0	6	53		
NID2	22795	broad.mit.edu	37	14	52481073	52481073	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr14:52481073T>C	ENST00000216286.5	-	16	3351	c.3352A>G	c.(3352-3354)Att>Gtt	p.I1118V	NID2_ENST00000541773.1_Missense_Mutation_p.I1017V	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1118					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.I1118V(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AAGTAGCCAATCTGCTGGCCC	0.592											OREG0022678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001wzo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(3352-3354)ATT>GTT		nidogen 2 precursor							95.0	90.0	92.0					14																	52481073		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52481073T>C	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3352A>G	14.37:g.52481073T>C	ENSP00000216286:p.Ile1118Val		OREG0022678	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	985	NID2_uc010tqs.1_Missense_Mutation_p.I1070V|NID2_uc010tqt.1_Missense_Mutation_p.I1118V|NID2_uc001wzp.2_Missense_Mutation_p.I1118V	p.I1118V	NM_007361	NP_031387	Q14112	NID2_HUMAN			16	3586	-	Breast(41;0.0639)|all_epithelial(31;0.123)		1118					A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.3352A>G	CCDS9706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.21|17.21	3.331361|3.331361	0.60853|0.60853	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000556572|ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	.|T;T	.|0.33216	.|1.42;1.42	6.06|6.06	4.89|4.89	0.63831|0.63831	.|Six-bladed beta-propeller, TolB-like (1);	.|0.047399	.|0.85682	.|D	.|0.000000	T|T	0.39860|0.39860	0.1094|0.1094	M|M	0.77103|0.77103	2.36|2.36	0.43394|0.43394	D|D	0.995511|0.995511	.|P;P;P;B	.|0.51791	.|0.664;0.681;0.948;0.268	.|B;B;P;B	.|0.44518	.|0.364;0.316;0.452;0.093	T|T	0.40270|0.40270	-0.9572|-0.9572	5|10	.|0.51188	.|T	.|0.08	.|.	13.35|13.35	0.60597|0.60597	0.0:0.0:0.1315:0.8685|0.0:0.0:0.1315:0.8685	.|.	.|712;1017;1120;1118	.|E7EPP3;Q14112-2;Q5CZI2;Q14112	.|.;.;.;NID2_HUMAN	G|V	386|1118;712;1017;1120	.|ENSP00000216286:I1118V;ENSP00000443730:I1017V	.|ENSP00000216286:I1118V	D|I	-|-	2|1	0|0	NID2|NID2	51550823|51550823	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.701000|0.701000	0.40568|0.40568	5.529000|5.529000	0.67135|0.67135	1.077000|1.077000	0.40990|0.40990	0.533000|0.533000	0.62120|0.62120	GAT|ATT		0.592	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1				10	40	0	0	0	0.006214	0	10	40		
LTBP2	4053	broad.mit.edu	37	14	74973930	74973930	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr14:74973930G>C	ENST00000261978.4	-	26	4245	c.3859C>G	c.(3859-3861)Ctg>Gtg	p.L1287V	LTBP2_ENST00000556690.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1287	Cys-rich.|EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.L1287V(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGGCAGCCCAGAACACAGCGG	0.567																																						uc001xqa.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	liver(1)|skin(1)	2						c.(3859-3861)CTG>GTG		latent transforming growth factor beta binding							88.0	82.0	84.0					14																	74973930		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74973930G>C		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3859C>G	14.37:g.74973930G>C	ENSP00000261978:p.Leu1287Val						p.L1287V	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	26	4246	-			1287			EGF-like 14; calcium-binding (Potential).|Cys-rich.		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.3859C>G	CCDS9831.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.755|5.755	0.323637|0.323637	0.10900|0.10900	.|.	.|.	ENSG00000119681|ENSG00000119681	ENST00000261978|ENST00000556206	D|.	0.87491|.	-2.26|.	5.22|5.22	3.26|3.26	0.37387|0.37387	EGF-like calcium-binding (2);|.	0.000000|.	0.32987|.	N|.	0.005417|.	T|T	0.34948|0.34948	0.0915|0.0915	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	P|.	0.40681|.	0.727|.	B|.	0.43508|.	0.422|.	T|T	0.07462|0.07462	-1.0771|-1.0771	10|5	0.17832|.	T|.	0.49|.	.|.	6.653|6.653	0.22973|0.22973	0.0909:0.0:0.5595:0.3496|0.0909:0.0:0.5595:0.3496	.|.	1287|.	Q14767|.	LTBP2_HUMAN|.	V|C	1287|178	ENSP00000261978:L1287V|.	ENSP00000261978:L1287V|.	L|S	-|-	1|2	2|0	LTBP2|LTBP2	74043683|74043683	0.975000|0.975000	0.34042|0.34042	0.754000|0.754000	0.31244|0.31244	0.213000|0.213000	0.24496|0.24496	1.012000|1.012000	0.29924|0.29924	1.182000|1.182000	0.42928|0.42928	0.561000|0.561000	0.74099|0.74099	CTG|TCT		0.567	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1		NM_000428		6	57	0	0	0	0.00308	0	6	57		
BDKRB1	623	broad.mit.edu	37	14	96730151	96730151	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr14:96730151C>G	ENST00000216629.6	+	3	738	c.132C>G	c.(130-132)atC>atG	p.I44M	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Missense_Mutation_p.I44M|RP11-404P21.8_ENST00000555847.1_3'UTR|RP11-404P21.8_ENST00000553811.1_3'UTR	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	44					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)	p.I44M(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CAACATTTATCATCTCCATCT	0.542																																						uc001yfh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(130-132)ATC>ATG		bradykinin receptor B1							91.0	72.0	79.0					14																	96730151		2203	4300	6503	SO:0001583	missense	623				elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	g.chr14:96730151C>G	L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.132C>G	14.37:g.96730151C>G	ENSP00000216629:p.Ile44Met					BDKRB1_uc010avn.2_Missense_Mutation_p.I44M	p.I44M	NM_000710	NP_000701	P46663	BKRB1_HUMAN		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)	3	340	+		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)	44			Helical; Name=1; (Potential).		A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	c.132C>G	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787694	0.31593	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.37235	1.21;1.21	5.37	4.47	0.54385	.	0.298679	0.30732	U	0.008987	T	0.31702	0.0805	N	0.08118	0	0.09310	N	0.999992	P;P	0.45569	0.861;0.696	P;B	0.51516	0.672;0.338	T	0.25433	-1.0132	10	0.56958	D	0.05	-5.2662	15.0756	0.72074	0.0:0.8575:0.1425:0.0	.	44;44	G3V4Y2;P46663	.;BKRB1_HUMAN	M	44	ENSP00000216629:I44M;ENSP00000452064:I44M	ENSP00000216629:I44M	I	+	3	3	BDKRB1	95799904	0.221000	0.23642	0.016000	0.15963	0.053000	0.15095	1.130000	0.31393	1.253000	0.44018	0.555000	0.69702	ATC		0.542	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1				4	51	0	0	0	0.009096	0	4	51		
AHNAK2	113146	broad.mit.edu	37	14	105408255	105408255	+	Silent	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr14:105408255G>T	ENST00000333244.5	-	7	13652	c.13533C>A	c.(13531-13533)ctC>ctA	p.L4511L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4511						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.L4511L(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTGAATGCGGAGGTCAGTGG	0.622																																						uc010axc.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(13531-13533)CTC>CTA		AHNAK nucleoprotein 2							121.0	128.0	126.0					14																	105408255		2003	4168	6171	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105408255G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13533C>A	14.37:g.105408255G>T						AHNAK2_uc001ypx.2_Silent_p.L4411L	p.L4511L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13653	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4511					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.13533C>A	CCDS45177.1																																																																																				0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		27	154	1	0	1.33986e-20	0.024334	1.546e-20	27	154		
AHNAK2	113146	broad.mit.edu	37	14	105408514	105408514	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr14:105408514G>A	ENST00000333244.5	-	7	13393	c.13274C>T	c.(13273-13275)tCt>tTt	p.S4425F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4425						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.S4425F(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTGGGCAGAGACACGTCCAG	0.622																																						uc010axc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(13273-13275)TCT>TTT		AHNAK nucleoprotein 2							100.0	107.0	105.0					14																	105408514		2008	4167	6175	SO:0001583	missense	113146					nucleus		g.chr14:105408514G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13274C>T	14.37:g.105408514G>A	ENSP00000353114:p.Ser4425Phe					AHNAK2_uc001ypx.2_Missense_Mutation_p.S4325F	p.S4425F	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13394	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4425					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13274C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.997504	0.54147	.	.	ENSG00000185567	ENST00000333244	T	0.01887	4.58	4.08	3.1	0.35709	.	.	.	.	.	T	0.13030	0.0316	M	0.89414	3.03	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.03130	-1.1069	9	0.59425	D	0.04	.	7.9569	0.30049	0.0914:0.1634:0.7452:0.0	.	4425	Q8IVF2	AHNK2_HUMAN	F	4425	ENSP00000353114:S4425F	ENSP00000353114:S4425F	S	-	2	0	AHNAK2	104479559	0.000000	0.05858	0.004000	0.12327	0.218000	0.24690	0.066000	0.14489	1.841000	0.53522	0.306000	0.20318	TCT		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		14	145	0	0	0	0.028581	0	14	145		
CORO2B	10391	broad.mit.edu	37	15	68937670	68937671	+	Missense_Mutation	DNP	GG	GG	AT			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr15:68937670_68937671GG>AT	ENST00000566799.1	+	2	216_217	c.187_188GG>AT	c.(187-189)GGc>ATc	p.G63I	CORO2B_ENST00000261861.5_Missense_Mutation_p.G58I|CORO2B_ENST00000543950.1_Missense_Mutation_p.G58I|CORO2B_ENST00000540068.1_Missense_Mutation_p.G58I			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	63					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)	p.G63V(1)|p.G63>?(1)|p.G63S(1)		kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CGCAGGGGGCGGCTCCTTCCTC	0.624																																						uc002arj.3		NaN																	3	Substitution - Missense(2)|Complex(1)		urinary_tract(3)	ovary(3)|skin(2)|large_intestine(1)	6						c.(187-189)GGC>ATC		coronin, actin binding protein, 2B																																				SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:68937670_68937671GG>AT	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	Exception_encountered	15.37:g.68937670_68937671delinsAT	ENSP00000454783:p.Gly63Ile					CORO2B_uc010bic.2_Missense_Mutation_p.G58I	p.G63I	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN			2	216_217	+			63					A8K0W3|O94767|Q8TAN1	Missense_Mutation	DNP	ENST00000566799.1	37	c.187_188GG>AT	CCDS10229.2																																																																																				0.624	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_006091		4	68	0	0	0	0.004672	0	4	68		
TSPAN3	10099	broad.mit.edu	37	15	77345133	77345133	+	Missense_Mutation	SNP	C	C	A	rs201360518		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr15:77345133C>A	ENST00000267970.4	-	5	844	c.571G>T	c.(571-573)Gac>Tac	p.D191Y	TSPAN3_ENST00000346495.2_Missense_Mutation_p.D166Y|TSPAN3_ENST00000559494.1_Missense_Mutation_p.D102Y|TSPAN3_ENST00000561277.1_5'UTR|TSPAN3_ENST00000558394.1_5'Flank|TSPAN3_ENST00000424443.3_Missense_Mutation_p.D127Y|TSPAN3_ENST00000558745.1_5'UTR	NM_001168412.1|NM_005724.5|NM_198902.2	NP_001161884.1|NP_005715.1|NP_944492.1	O60637	TSN3_HUMAN	tetraspanin 3	191						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.D191Y(1)		kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	10				all cancers(203;1.14e-19)		GCATAGAGGTCGGAAGGGTGG	0.478																																						uc002bcj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(571-573)GAC>TAC		transmembrane 4 superfamily member 8 isoform 1							98.0	79.0	85.0					15																	77345133		2196	4294	6490	SO:0001583	missense	10099					integral to membrane		g.chr15:77345133C>A		CCDS10292.1, CCDS10293.1, CCDS53963.1	15q23	2013-02-14	2005-03-21	2005-03-21	ENSG00000140391	ENSG00000140391		"""Tetraspanins"""	17752	protein-coding gene	gene with protein product		613134	"""transmembrane 4 superfamily member 8"""	TM4SF8			Standard	NM_005724		Approved	TM4-A, TSPAN-3	uc002bcj.3	O60637	OTTHUMG00000143728	ENST00000267970.4:c.571G>T	15.37:g.77345133C>A	ENSP00000267970:p.Asp191Tyr					TSPAN3_uc002bck.2_Missense_Mutation_p.D166Y|TSPAN3_uc010ump.1_Missense_Mutation_p.D127Y|TSPAN3_uc010bkx.2_Missense_Mutation_p.D102Y	p.D191Y	NM_005724	NP_005715	O60637	TSN3_HUMAN		all cancers(203;1.14e-19)	5	788	-			191			Extracellular (Potential).		A6NEH4|B3KQQ2|B4DP19|Q9BW22|Q9NVX9	Missense_Mutation	SNP	ENST00000267970.4	37	c.571G>T	CCDS10292.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.421147	0.62622	.	.	ENSG00000140391	ENST00000267970;ENST00000424443;ENST00000423920;ENST00000346495	T;T;T	0.79653	-1.29;-1.29;-1.29	6.16	3.03	0.35002	Tetraspanin, EC2 domain (1);	0.177290	0.64402	N	0.000017	D	0.85856	0.5794	M	0.68317	2.08	0.80722	D	1	D;D;B;P	0.76494	0.999;0.962;0.1;0.811	D;P;B;P	0.74348	0.983;0.81;0.176;0.55	T	0.82608	-0.0373	10	0.40728	T	0.16	.	9.1028	0.36678	0.1226:0.7844:0.0:0.093	.	127;153;166;191	B4DP19;B4DEK8;A6NEH4;O60637	.;.;.;TSN3_HUMAN	Y	191;127;153;166	ENSP00000267970:D191Y;ENSP00000407243:D127Y;ENSP00000341329:D166Y	ENSP00000267970:D191Y	D	-	1	0	TSPAN3	75132188	0.954000	0.32549	0.371000	0.25978	0.825000	0.46686	2.184000	0.42575	0.345000	0.23873	0.650000	0.86243	GAC		0.478	TSPAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289792.3		NM_005724		5	25	1	0	3.59834e-05	0.021553	3.90181e-05	5	25		
PEAK1	79834	broad.mit.edu	37	15	77472430	77472430	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr15:77472430C>T	ENST00000560626.2	-	4	2314	c.1839G>A	c.(1837-1839)gaG>gaA	p.E613E	PEAK1_ENST00000558305.1_Silent_p.E613E|PEAK1_ENST00000312493.4_Silent_p.E613E			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	613					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.E613E(2)									CATAAGTTGGCTCGTCATGAA	0.348																																						uc002bcm.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(1837-1839)GAG>GAA		NKF3 kinase family member							117.0	111.0	113.0					15																	77472430		1849	4090	5939	SO:0001819	synonymous_variant	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77472430C>T		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.1839G>A	15.37:g.77472430C>T						SGK269_uc002bcn.2_Silent_p.E613E	p.E613E	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	3	2147	-			613					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	ENST00000560626.2	37	c.1839G>A	CCDS42062.1																																																																																				0.348	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3				11	142	0	0	0	0.016723	0	11	142		
TMC3	342125	broad.mit.edu	37	15	81625521	81625521	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr15:81625521C>T	ENST00000359440.5	-	22	2677	c.2542G>A	c.(2542-2544)Gaa>Aaa	p.E848K	RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.E849K|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.E852K(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGTACATCTTCGATGTGCGTT	0.527																																						uc002bgo.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|liver(1)	2						c.(2542-2544)GAA>AAA		transmembrane channel-like 3							138.0	134.0	135.0					15																	81625521		1996	4206	6202	SO:0001583	missense	342125					integral to membrane		g.chr15:81625521C>T	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2542G>A	15.37:g.81625521C>T	ENSP00000352413:p.Glu848Lys					TMC3_uc010blr.1_RNA	p.E848K	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			22	2542	-			848			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000359440.5	37	c.2542G>A	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334677	0.24253	.	.	ENSG00000188869	ENST00000359440	T	0.64991	-0.13	4.89	2.0	0.26442	.	0.680506	0.11865	N	0.521942	T	0.41789	0.1174	N	0.21583	0.68	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.22591	-1.0212	10	0.19147	T	0.46	-2.7753	5.4347	0.16474	0.0:0.6171:0.1445:0.2383	.	848	Q7Z5M5	TMC3_HUMAN	K	848	ENSP00000352413:E848K	ENSP00000352413:E848K	E	-	1	0	TMC3	79412576	0.478000	0.25917	0.001000	0.08648	0.000000	0.00434	2.474000	0.45154	0.266000	0.21894	-0.136000	0.14681	GAA		0.527	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3		NM_181841		9	93	0	0	0	0.004482	0	9	93		
DET1	55070	broad.mit.edu	37	15	89074506	89074506	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr15:89074506C>A	ENST00000268148.8	-	2	576	c.431G>T	c.(430-432)tGt>tTt	p.C144F	DET1_ENST00000564406.1_Missense_Mutation_p.C155F|DET1_ENST00000559656.1_5'Flank|DET1_ENST00000444300.1_Missense_Mutation_p.C155F|DET1_ENST00000558413.1_Intron	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	144						nucleus (GO:0005634)		p.C155F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GAAGAGACTACACTCCCGGTT	0.537																																						uc002bmr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(1)|pancreas(1)	2						c.(430-432)TGT>TTT		de-etiolated 1 isoform 2							42.0	43.0	43.0					15																	89074506		1984	4168	6152	SO:0001583	missense	55070					nucleus		g.chr15:89074506C>A	BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.431G>T	15.37:g.89074506C>A	ENSP00000268148:p.Cys144Phe					DET1_uc002bmp.3_RNA|DET1_uc010bnk.2_RNA|DET1_uc002bmq.2_Missense_Mutation_p.C155F	p.C144F	NM_001144074	NP_001137546	Q7L5Y6	DET1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.188)		2	583	-	Lung NSC(78;0.105)|all_lung(78;0.182)		144					B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	ENST00000268148.8	37	c.431G>T	CCDS45344.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.627508	0.28978	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.60025	0.2237	L	0.33093	0.98	0.80722	D	1	P;P	0.51537	0.946;0.946	P;P	0.56514	0.8;0.8	T	0.48833	-0.9000	9	0.06099	T	0.92	-42.7039	19.8676	0.96824	0.0:1.0:0.0:0.0	.	144;155	Q7L5Y6;B3KNN6	DET1_HUMAN;.	F	155;144	.	ENSP00000268148:C144F	C	-	2	0	DET1	86875510	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.191000	0.77763	2.941000	0.99782	0.655000	0.94253	TGT		0.537	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415442.2		NM_017996		5	25	1	0	0.000602214	0.014758	0.000630224	5	25		
NR2F2	7026	broad.mit.edu	37	15	96880592	96880592	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr15:96880592C>T	ENST00000394166.3	+	3	2375	c.986C>T	c.(985-987)tCt>tTt	p.S329F	NR2F2_ENST00000421109.2_Missense_Mutation_p.S196F|NR2F2_ENST00000394171.2_Missense_Mutation_p.S176F|NR2F2_ENST00000453270.2_Missense_Mutation_p.S176F	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	329	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S329F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TGTGGTCTCTCTGATGTAGCC	0.423																																						uc010uri.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(1)	3						c.(985-987)TCT>TTT		nuclear receptor subfamily 2, group F, member 2							73.0	72.0	72.0					15																	96880592		2197	4298	6495	SO:0001583	missense	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96880592C>T	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.986C>T	15.37:g.96880592C>T	ENSP00000377721:p.Ser329Phe					NR2F2_uc002btp.2_Missense_Mutation_p.S196F|NR2F2_uc010urj.1_Missense_Mutation_p.S176F|NR2F2_uc010urk.1_Missense_Mutation_p.S176F	p.S329F	NM_021005	NP_066285	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		3	2210	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		329			Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	ENST00000394166.3	37	c.986C>T	CCDS10375.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.170973	0.57584	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27	5.15	5.15	0.70609	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98664	0.9552	M	0.89353	3.025	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.73380	0.98;0.964	D	0.99694	1.1002	10	0.87932	D	0	.	18.9773	0.92742	0.0:1.0:0.0:0.0	.	329;196	P24468;Q3KQR7	COT2_HUMAN;.	F	196;329;176;176	ENSP00000401674:S196F;ENSP00000377721:S329F;ENSP00000377726:S176F;ENSP00000389853:S176F	ENSP00000377721:S329F	S	+	2	0	NR2F2	94681596	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.074000	0.71253	2.546000	0.85860	0.655000	0.94253	TCT		0.423	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1				6	66	0	0	0	0.021553	0	6	66		
ZNF263	10127	broad.mit.edu	37	16	3339743	3339743	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:3339743G>T	ENST00000219069.5	+	6	2113	c.1237G>T	c.(1237-1239)Gaa>Taa	p.E413*	ZNF263_ENST00000538765.1_Nonsense_Mutation_p.E61*|ZNF263_ENST00000574253.1_3'UTR	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	413					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E413*(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GGACTGCACTGAAATCTTTGG	0.473																																						uc002cuq.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	skin(3)|ovary(1)	4						c.(1237-1239)GAA>TAA		zinc finger protein 263							130.0	114.0	120.0					16																	3339743		2197	4300	6497	SO:0001587	stop_gained	10127				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3339743G>T	AC004232	CCDS10499.1	16p13.3	2013-01-09			ENSG00000006194	ENSG00000006194		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13056	protein-coding gene	gene with protein product		604191				9256059	Standard	NM_005741		Approved	FPM315, ZKSCAN12, ZSCAN44	uc002cuq.3	O14978	OTTHUMG00000129323	ENST00000219069.5:c.1237G>T	16.37:g.3339743G>T	ENSP00000219069:p.Glu413*					ZNF263_uc010uww.1_Nonsense_Mutation_p.E61*|ZNF263_uc002cur.2_Nonsense_Mutation_p.E61*	p.E413*	NM_005741	NP_005732	O14978	ZN263_HUMAN			6	1569	+			413					B2R634|O43387|Q96H95	Nonsense_Mutation	SNP	ENST00000219069.5	37	c.1237G>T	CCDS10499.1	.	.	.	.	.	.	.	.	.	.	G	17.14	3.312175	0.60414	.	.	ENSG00000006194	ENST00000538765;ENST00000219069	.	.	.	5.84	5.84	0.93424	.	0.462231	0.20374	N	0.093595	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.6329	0.88114	0.0:0.0:1.0:0.0	.	.	.	.	X	61;413	.	ENSP00000219069:E413X	E	+	1	0	ZNF263	3279744	0.999000	0.42202	0.120000	0.21714	0.138000	0.21146	4.252000	0.58785	2.764000	0.94973	0.655000	0.94253	GAA		0.473	ZNF263-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251463.2				9	91	1	0	3.09899e-07	0.004482	3.47189e-07	9	91		
CREBBP	1387	broad.mit.edu	37	16	3817750	3817750	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:3817750G>C	ENST00000262367.5	-	16	4030	c.3221C>G	c.(3220-3222)tCa>tGa	p.S1074*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.S1036*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1074					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S1074*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AGGAGATGTTGACTGAGAGGC	0.428			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NaN		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - Nonsense(1)		urinary_tract(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(3220-3222)TCA>TGA		CREB binding protein isoform a							229.0	206.0	213.0					16																	3817750		2197	4300	6497	SO:0001587	stop_gained	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3817750G>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3221C>G	16.37:g.3817750G>C	ENSP00000262367:p.Ser1074*					CREBBP_uc002cvw.2_Nonsense_Mutation_p.S1036*	p.S1074*	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	16	3425	-		Ovarian(90;0.0266)	1074					D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	ENST00000262367.5	37	c.3221C>G	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	G	48	14.363685	0.99792	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-15.173	20.0086	0.97443	0.0:0.0:1.0:0.0	.	.	.	.	X	1074;1104;1036	.	ENSP00000262367:S1074X	S	-	2	0	CREBBP	3757751	1.000000	0.71417	0.996000	0.52242	0.595000	0.36748	8.789000	0.91839	2.808000	0.96608	0.655000	0.94253	TCA		0.428	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		11	138	0	0	0	0.013537	0	11	138		
CORO7	79585	broad.mit.edu	37	16	4466517	4466517	+	Start_Codon_SNP	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:4466517C>T	ENST00000251166.4	-	1	148	c.3G>A	c.(1-3)atG>atA	p.M1I	CORO7-PAM16_ENST00000572467.1_Start_Codon_SNP_p.M1I|CORO7_ENST00000574025.1_Start_Codon_SNP_p.M1I|CORO7_ENST00000537233.2_Start_Codon_SNP_p.M1I|CORO7_ENST00000423908.2_Start_Codon_SNP_p.M1I|CORO7_ENST00000539968.1_5'Flank|CORO7_ENST00000577144.1_5'Flank	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	1					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)	p.M1I(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						TGAAGCGGTTCATGGCGACGG	0.756																																						uc002cwh.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1-3)ATG>ATA		coronin 7							20.0	23.0	22.0					16																	4466517		2161	4240	6401	SO:0001582	initiator_codon_variant	79585					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction		g.chr16:4466517C>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.3G>A	16.37:g.4466517C>T	ENSP00000251166:p.Met1Ile					CORO7_uc002cwf.2_Missense_Mutation_p.M1I|CORO7_uc002cwg.3_5'Flank|CORO7_uc010uxh.1_Missense_Mutation_p.M1I|CORO7_uc010uxi.1_Missense_Mutation_p.M1I|CORO7_uc010uxj.1_RNA|CORO7_uc010btp.1_5'UTR|CORO7_uc010btr.1_RNA	p.M1I	NM_024535	NP_078811	P57737	CORO7_HUMAN			1	123	-			1					B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	c.3G>A	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	34	5.298963	0.95574	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000423908	T;T;T	0.69685	-0.32;-0.42;1.84	5.04	5.04	0.67666	.	0.161338	0.37761	U	0.001953	T	0.80014	0.4546	.	.	.	0.80722	D	1	P;P;P;D	0.54964	0.762;0.851;0.649;0.969	B;P;B;D	0.63381	0.196;0.838;0.096;0.914	T	0.82808	-0.0274	9	0.87932	D	0	-35.2707	13.8715	0.63622	0.0:1.0:0.0:0.0	.	1;1;1;1	P57737-2;B4DFD6;P57737;B4DKU9	.;.;CORO7_HUMAN;.	I	1	ENSP00000251166:M1I;ENSP00000440460:M1I;ENSP00000391530:M1I	ENSP00000251166:M1I	M	-	3	0	CORO7	4406518	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	3.963000	0.56773	2.328000	0.79073	0.484000	0.47621	ATG		0.756	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2		NM_024535	Missense_Mutation	4	23	0	0	0	0.009096	0	4	23		
SMG1	23049	broad.mit.edu	37	16	18859259	18859259	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:18859259G>A	ENST00000446231.2	-	37	6132	c.5720C>T	c.(5719-5721)tCt>tTt	p.S1907F	SMG1_ENST00000389467.3_Missense_Mutation_p.S1907F			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1907	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.S1903F(1)|p.S1907F(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GCTATCCTGAGATGCAGGAGG	0.398																																						uc002dfm.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(5719-5721)TCT>TTT		PI-3-kinase-related kinase SMG-1							141.0	131.0	134.0					16																	18859259		1884	4118	6002	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18859259G>A	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.5720C>T	16.37:g.18859259G>A	ENSP00000402515:p.Ser1907Phe					SMG1_uc010bwb.2_Missense_Mutation_p.S1767F|SMG1_uc010bwa.2_Missense_Mutation_p.S638F|SMG1_uc002dfo.3_Missense_Mutation_p.S205F	p.S1907F	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			37	6083	-			1907			Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.5720C>T	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.164336	0.57476	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.01159	5.25;5.25	5.85	4.89	0.63831	Armadillo-type fold (1);	0.085383	0.51477	D	0.000083	T	0.01421	0.0046	L	0.34521	1.04	0.40225	D	0.977788	B;P	0.39551	0.16;0.678	B;B	0.33799	0.034;0.17	T	0.68179	-0.5477	10	0.59425	D	0.04	.	16.3236	0.82964	0.0:0.0:0.8666:0.1334	.	1767;1907	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	F	1907	ENSP00000402515:S1907F;ENSP00000374118:S1907F	ENSP00000374118:S1907F	S	-	2	0	SMG1	18766760	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.639000	0.61361	1.455000	0.47813	-0.282000	0.10007	TCT		0.398	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1		NM_015092		13	63	0	0	0	0.016723	0	13	63		
DNAH3	55567	broad.mit.edu	37	16	20997001	20997001	+	Missense_Mutation	SNP	C	C	G	rs548803556		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:20997001C>G	ENST00000261383.3	-	48	7062	c.7063G>C	c.(7063-7065)Gat>Cat	p.D2355H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2355					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.D2355H(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATGTTATCATCGACTATCTTT	0.458																																						uc010vbe.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(7063-7065)GAT>CAT		dynein, axonemal, heavy chain 3							96.0	95.0	95.0					16																	20997001		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20997001C>G	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.7063G>C	16.37:g.20997001C>G	ENSP00000261383:p.Asp2355His					DNAH3_uc010vbd.1_5'Flank	p.D2355H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	48	7063	-			2355					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.7063G>C	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721939	0.68959	.	.	ENSG00000158486	ENST00000261383	T	0.24908	1.83	5.02	5.02	0.67125	.	0.000000	0.64402	D	0.000001	T	0.56396	0.1982	M	0.83483	2.645	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60954	-0.7160	10	0.52906	T	0.07	.	18.705	0.91633	0.0:1.0:0.0:0.0	.	2355	Q8TD57	DYH3_HUMAN	H	2355	ENSP00000261383:D2355H	ENSP00000261383:D2355H	D	-	1	0	DNAH3	20904502	1.000000	0.71417	0.964000	0.40570	0.949000	0.60115	5.864000	0.69575	2.494000	0.84150	0.655000	0.94253	GAT		0.458	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		11	108	0	0	0	0.010729	0	11	108		
THAP11	57215	broad.mit.edu	37	16	67876802	67876802	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:67876802G>A	ENST00000303596.1	+	1	590	c.345G>A	c.(343-345)caG>caA	p.Q115Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	115	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q115Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcaacagcagcaacagcagc	0.682																																						uc002euo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(343-345)CAG>CAA		THAP domain containing 11							19.0	24.0	22.0					16																	67876802		1929	3837	5766	SO:0001819	synonymous_variant	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67876802G>A	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.345G>A	16.37:g.67876802G>A						CENPT_uc002eun.3_Intron	p.Q115Q	NM_020457	NP_065190	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	590	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	115			Gln-rich.		A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	c.345G>A	CCDS10847.1																																																																																				0.682	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1		NM_020457		3	64	0	0	0	0.004672	0	3	64		
SLC12A4	6560	broad.mit.edu	37	16	67979985	67979985	+	Splice_Site	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:67979985C>G	ENST00000316341.3	-	20	2748	c.2608G>C	c.(2608-2610)Gtc>Ctc	p.V870L	SLC12A4_ENST00000576616.1_Splice_Site_p.V870L|SLC12A4_ENST00000537830.2_Splice_Site_p.V864L|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000541864.2_Splice_Site_p.V839L|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000572037.1_Splice_Site_p.V822L|SLC12A4_ENST00000422611.2_Splice_Site_p.V872L|CTC-479C5.17_ENST00000590594.1_lincRNA	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	870					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.V870L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTCCTCCAGACCTGAGGCAAG	0.592																																						uc002euz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2608-2610)GTC>CTC		solute carrier family 12, member 4 isoform a	Bumetanide(DB00887)|Potassium Chloride(DB00761)						90.0	81.0	84.0					16																	67979985		2198	4300	6498	SO:0001630	splice_region_variant	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67979985C>G		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2608-1G>C	16.37:g.67979985C>G						LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.V864L|SLC12A4_uc010vkh.1_Missense_Mutation_p.V839L|SLC12A4_uc010vki.1_Missense_Mutation_p.V870L|SLC12A4_uc010vkj.1_Missense_Mutation_p.V872L|SLC12A4_uc002eva.2_Missense_Mutation_p.V870L|SLC12A4_uc010cev.1_RNA	p.V870L	NM_005072	NP_005063	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	20	2749	-		Ovarian(137;0.192)	870			Cytoplasmic (Potential).		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.2608G>C	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666921	0.88251	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.97489	0.9178	M	0.86343	2.81	0.80722	D	1	P;D;D;D;D;P	0.71674	0.918;0.978;0.998;0.969;0.969;0.868	P;P;D;P;P;P	0.85130	0.835;0.802;0.997;0.814;0.814;0.542	D	0.97749	1.0213	10	0.48119	T	0.1	.	17.723	0.88357	0.0:1.0:0.0:0.0	.	872;870;839;864;870;870	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	L	872;839;864;870	ENSP00000395983:V872L;ENSP00000438334:V839L;ENSP00000445962:V864L;ENSP00000318557:V870L	ENSP00000318557:V870L	V	-	1	0	SLC12A4	66537486	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.818000	0.86416	2.192000	0.70111	0.555000	0.69702	GTC		0.592	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4		NM_005072	Missense_Mutation	3	39	0	0	0	0.004672	0	3	39		
ZFHX3	463	broad.mit.edu	37	16	72992721	72992721	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr16:72992721C>T	ENST00000268489.5	-	2	1996	c.1324G>A	c.(1324-1326)Gag>Aag	p.E442K	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	442					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E442K(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCCTGCTTCTCTCCTTCTGCC	0.612																																						uc002fck.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(1324-1326)GAG>AAG		zinc finger homeobox 3 isoform A							63.0	73.0	69.0					16																	72992721		2197	4296	6493	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72992721C>T	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1324G>A	16.37:g.72992721C>T	ENSP00000268489:p.Glu442Lys					ZFHX3_uc002fcl.2_Intron	p.E442K	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	1997	-		Ovarian(137;0.13)	442					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.1324G>A	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	7.026	0.559601	0.13436	.	.	ENSG00000140836	ENST00000268489	T	0.73152	-0.72	4.91	3.94	0.45596	.	0.142753	0.31134	N	0.008190	T	0.56247	0.1972	N	0.08118	0	0.80722	D	1	P	0.44478	0.836	P	0.47299	0.543	T	0.53676	-0.8405	10	0.17369	T	0.5	.	14.9725	0.71246	0.1436:0.8564:0.0:0.0	.	442	Q15911	ZFHX3_HUMAN	K	442	ENSP00000268489:E442K	ENSP00000268489:E442K	E	-	1	0	ZFHX3	71550222	1.000000	0.71417	0.983000	0.44433	0.039000	0.13416	3.657000	0.54474	1.172000	0.42781	0.585000	0.79938	GAG		0.612	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1		NM_006885		13	111	0	0	0	0.028581	0	13	111		
FAM57A	79850	broad.mit.edu	37	17	641131	641131	+	Missense_Mutation	SNP	G	G	A	rs143392294	byFrequency	TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:641131G>A	ENST00000308278.8	+	3	488	c.252G>A	c.(250-252)atG>atA	p.M84I	FAM57A_ENST00000572018.1_Intron|FAM57A_ENST00000301324.8_Missense_Mutation_p.M84I	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	84	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.M84I(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TTCCATACATGATCTATGACT	0.483																																						uc002frp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(250-252)ATG>ATA		family with sequence similarity 57, member A		G	ILE/MET	5,4401	9.9+/-24.2	0,5,2198	214.0	197.0	203.0		252	5.7	1.0	17	dbSNP_134	203	0,8600		0,0,4300	yes	missense	FAM57A	NM_024792.1	10	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	possibly-damaging	84/258	641131	5,13001	2203	4300	6503	SO:0001583	missense	79850					integral to membrane|plasma membrane		g.chr17:641131G>A	AK025935	CCDS10996.1	17p13.3	2014-08-14				ENSG00000167695			29646	protein-coding gene	gene with protein product		611627				12270127	Standard	NM_024792		Approved	FLJ22282, CT120	uc002frp.3	Q8TBR7		ENST00000308278.8:c.252G>A	17.37:g.641131G>A	ENSP00000312017:p.Met84Ile					FAM57A_uc002frq.2_Missense_Mutation_p.M84I|FAM57A_uc002frr.2_5'UTR	p.M84I	NM_024792	NP_079068	Q8TBR7	FA57A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)	3	293	+			84			TLC.|Helical; (Potential).		A8K7Q0|Q7Z464|Q96D97|Q9H6H3	Missense_Mutation	SNP	ENST00000308278.8	37	c.252G>A	CCDS10996.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647779	0.67358	0.001135	0.0	ENSG00000167695	ENST00000308278;ENST00000301324;ENST00000451373	D;D	0.84873	-1.91;-1.91	5.66	5.66	0.87406	TRAM/LAG1/CLN8 homology domain (3);	0.038940	0.85682	D	0.000000	D	0.91603	0.7347	M	0.78916	2.43	0.51233	D	0.999913	D;P	0.60575	0.988;0.669	P;B	0.60682	0.878;0.266	D	0.91336	0.5093	10	0.49607	T	0.09	-24.4393	18.7243	0.91708	0.0:0.0:1.0:0.0	.	84;84	Q8TBR7-1;Q8TBR7	.;FA57A_HUMAN	I	84;84;157	ENSP00000312017:M84I;ENSP00000301324:M84I	ENSP00000301324:M84I	M	+	3	0	FAM57A	587881	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.047000	0.71038	2.662000	0.90505	0.643000	0.83706	ATG		0.483	FAM57A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437155.2		NM_024792		14	155	0	0	0	0.020292	0	14	155		
ZZEF1	23140	broad.mit.edu	37	17	4015972	4015972	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:4015972C>G	ENST00000381638.2	-	5	1121	c.997G>C	c.(997-999)Gat>Cat	p.D333H	snoU13_ENST00000459263.1_RNA|ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	333	DOC. {ECO:0000255|PROSITE- ProRule:PRU00614}.						calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.D333H(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATGTGCACATCTCGGACTTCC	0.542																																						uc002fxe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(997-999)GAT>CAT		zinc finger, ZZ type with EF hand domain 1							121.0	87.0	99.0					17																	4015972		2203	4300	6503	SO:0001583	missense	23140						calcium ion binding|zinc ion binding	g.chr17:4015972C>G	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.997G>C	17.37:g.4015972C>G	ENSP00000371051:p.Asp333His					ZZEF1_uc002fxk.1_Missense_Mutation_p.D333H	p.D333H	NM_015113	NP_055928	O43149	ZZEF1_HUMAN			5	1061	-			333			DOC.		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	c.997G>C	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882707	0.91740	.	.	ENSG00000074755	ENST00000381638	T	0.64991	-0.13	5.51	5.51	0.81932	Anaphase-promoting complex, subunit 10/DOC domain (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.77384	0.4122	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.74674	0.984;0.962	T	0.78368	-0.2231	10	0.66056	D	0.02	-17.3035	19.3987	0.94619	0.0:1.0:0.0:0.0	.	333;333	O43149-3;O43149	.;ZZEF1_HUMAN	H	333	ENSP00000371051:D333H	ENSP00000371051:D333H	D	-	1	0	ZZEF1	3962721	1.000000	0.71417	0.825000	0.32803	0.981000	0.71138	7.461000	0.80834	2.595000	0.87683	0.591000	0.81541	GAT		0.542	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113		4	34	0	0	0	0.009096	0	4	34		
ELP5	23587	broad.mit.edu	37	17	7162203	7162203	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:7162203C>T	ENST00000396628.2	+	7	1011	c.794C>T	c.(793-795)gCc>gTc	p.A265V	ELP5_ENST00000574993.1_3'UTR|RP1-4G17.5_ENST00000577138.1_Intron|ELP5_ENST00000354429.2_Missense_Mutation_p.A265V|ELP5_ENST00000356683.2_3'UTR|ELP5_ENST00000396627.2_Missense_Mutation_p.A265V	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	265					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)		p.A265V(1)									GAGAGAGAAGCCAGAGATAGC	0.517																																						uc002gfg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(793-795)GCC>GTC		S-phase 2 protein isoform 4							114.0	115.0	115.0					17																	7162203		2203	4300	6503	SO:0001583	missense	23587				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr17:7162203C>T	BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"""Elongator acetyltransferase complex subunits"""	30617	protein-coding gene	gene with protein product	"""dermal papilla derived protein 6"", ""S-phase 2 protein"""	615019	"""chromosome 17 open reading frame 81"""	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.794C>T	17.37:g.7162203C>T	ENSP00000379869:p.Ala265Val					C17orf81_uc002gfj.2_3'UTR|C17orf81_uc010cmb.2_3'UTR|C17orf81_uc002gfh.1_Missense_Mutation_p.A265V|C17orf81_uc002gfi.1_Missense_Mutation_p.A265V|C17orf81_uc002gfl.1_Intron	p.A265V	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN			8	901	+			265					A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Missense_Mutation	SNP	ENST00000396628.2	37	c.794C>T	CCDS11094.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741466	0.89573	.	.	ENSG00000170291	ENST00000354429;ENST00000396628;ENST00000396627	T;T;T	0.39229	1.09;1.09;1.09	5.81	5.81	0.92471	.	0.053598	0.85682	D	0.000000	T	0.46210	0.1381	M	0.63843	1.955	0.80722	D	1	P	0.42908	0.793	P	0.45449	0.481	T	0.44436	-0.9328	10	0.52906	T	0.07	-11.7913	10.9185	0.47150	0.0:0.9149:0.0:0.0851	.	265	Q8TE02	DERP6_HUMAN	V	265	ENSP00000346412:A265V;ENSP00000379869:A265V;ENSP00000379868:A265V	ENSP00000346412:A265V	A	+	2	0	C17orf81	7102927	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.620000	0.54203	2.745000	0.94114	0.655000	0.94253	GCC		0.517	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1		NM_015362		10	55	0	0	0	0.008291	0	10	55		
TP53	7157	broad.mit.edu	37	17	7577103	7577103	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:7577103C>G	ENST00000269305.4	-	8	1024	c.835G>C	c.(835-837)Ggg>Cgg	p.G279R	TP53_ENST00000420246.2_Missense_Mutation_p.G279R|TP53_ENST00000359597.4_Missense_Mutation_p.G279R|TP53_ENST00000455263.2_Missense_Mutation_p.G279R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G279R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	279	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G279R(9)|p.0?(8)|p.R280fs*65(7)|p.?(2)|p.G279fs*65(2)|p.G279W(2)|p.G279fs*27(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(1)|p.P278_G279insXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTCTCTCCCAGGACAGGCA	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		45	Deletion - Frameshift(14)|Substitution - Missense(11)|Whole gene deletion(8)|Deletion - In frame(6)|Insertion - Frameshift(2)|Unknown(2)|Insertion - In frame(1)|Complex - frameshift(1)	p.G279E(31)|p.G279R(7)|p.0?(7)|p.R280fs*65(6)|p.G279V(4)|p.G279G(3)|p.G279W(2)|p.?(2)|p.G279fs*65(2)|p.G279fs*27(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.P278_G279insXXXXX(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275fs*20(1)|p.G279fs*26(1)	upper_aerodigestive_tract(12)|urinary_tract(5)|breast(4)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|oesophagus(3)|lung(3)|central_nervous_system(2)|skin(2)|ovary(2)|liver(2)|large_intestine(1)|stomach(1)|peritoneum(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(835-837)GGG>CGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							73.0	64.0	67.0					17																	7577103		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577103C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.835G>C	17.37:g.7577103C>G	ENSP00000269305:p.Gly279Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.G279R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G147R|TP53_uc010cng.1_Missense_Mutation_p.G147R|TP53_uc002gii.1_Missense_Mutation_p.G147R|TP53_uc010cnh.1_Missense_Mutation_p.G279R|TP53_uc010cni.1_Missense_Mutation_p.G279R|TP53_uc002gij.2_Missense_Mutation_p.G279R	p.G279R	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1029	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	279		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.835G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	32	5.161644	0.94727	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.63;-7.63;-7.63;-7.63;-7.63;-7.63	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.85710	2.77	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.994;0.999;1.0	D	0.96194	0.9140	10	0.87932	D	0	-22.6503	16.1198	0.81342	0.0:1.0:0.0:0.0	.	279;279;279;279	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	279;279;279;279;279;268;147	ENSP00000352610:G279R;ENSP00000269305:G279R;ENSP00000398846:G279R;ENSP00000391127:G279R;ENSP00000391478:G279R;ENSP00000425104:G147R	ENSP00000269305:G279R	G	-	1	0	TP53	7517828	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGG		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		3	30	0	0	0	0.004672	0	3	30		
KRBA2	124751	broad.mit.edu	37	17	8273001	8273001	+	Silent	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:8273001T>C	ENST00000331336.2	-	2	935	c.930A>G	c.(928-930)ttA>ttG	p.L310L	RP11-849F2.5_ENST00000583963.1_RNA|KRBA2_ENST00000396267.1_Silent_p.L228L|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA	NM_213597.2	NP_998762.1	Q6ZNG9	KRBA2_HUMAN	KRAB-A domain containing 2	310	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)	p.L310L(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TGAAAATATCTAACAAGACAC	0.418																																						uc002glf.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(928-930)TTA>TTG		KRAB-A domain containing 2							49.0	48.0	48.0					17																	8273001		2203	4300	6503	SO:0001819	synonymous_variant	124751				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	g.chr17:8273001T>C	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.930A>G	17.37:g.8273001T>C						KRBA2_uc002glg.1_Silent_p.L227L	p.L310L	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN			2	936	-			310			Integrase catalytic.		Q8IYY0	Silent	SNP	ENST00000331336.2	37	c.930A>G	CCDS11141.1																																																																																				0.418	KRBA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256338.1		NM_213597		6	44	0	0	0	0.021553	0	6	44		
ATPAF2	91647	broad.mit.edu	37	17	17921970	17921970	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:17921970G>A	ENST00000474627.3	-	8	917	c.763C>T	c.(763-765)Cat>Tat	p.H255Y	ATPAF2_ENST00000469327.1_5'UTR|ATPAF2_ENST00000585101.1_Intron	NM_145691.3	NP_663729.1	Q8N5M1	ATPF2_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 2	255					proton-transporting ATP synthase complex assembly (GO:0043461)	mitochondrion (GO:0005739)|nuclear speck (GO:0016607)		p.H255Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					TCATAGTCATGGGCCCACTCA	0.607																																						uc002gse.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(763-765)CAT>TAT		ATP synthase mitochondrial F1 complex assembly							93.0	95.0	94.0					17																	17921970		2203	4300	6503	SO:0001583	missense	91647				proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding	g.chr17:17921970G>A	AF052185	CCDS32585.1	17p11.2	2012-10-12			ENSG00000171953	ENSG00000171953		"""Mitochondrial respiratory chain complex assembly factors"""	18802	protein-coding gene	gene with protein product		608918				11410595, 11997338	Standard	NM_145691		Approved	Atp12p, ATP12, LP3663, MGC29736	uc002gse.1	Q8N5M1	OTTHUMG00000059354	ENST00000474627.3:c.763C>T	17.37:g.17921970G>A	ENSP00000417190:p.His255Tyr					ATPAF2_uc002gsd.1_Intron|ATPAF2_uc002gsf.1_RNA	p.H255Y	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN			8	916	-	all_neural(463;0.228)		255					A6NDE5|A8K2J2|Q6XYC7	Missense_Mutation	SNP	ENST00000474627.3	37	c.763C>T	CCDS32585.1	.	.	.	.	.	.	.	.	.	.	G	35	5.433538	0.96150	.	.	ENSG00000171953	ENST00000474627	T	0.79454	-1.27	5.4	5.4	0.78164	ATPase assembly, ATP12, domain (1);	0.000000	0.85682	D	0.000000	D	0.90813	0.7115	M	0.91561	3.22	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.92179	0.5750	10	0.59425	D	0.04	-10.255	19.1739	0.93594	0.0:0.0:1.0:0.0	.	255	Q8N5M1	ATPF2_HUMAN	Y	255	ENSP00000417190:H255Y	ENSP00000417190:H255Y	H	-	1	0	ATPAF2	17862695	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.726000	0.98782	2.521000	0.84997	0.561000	0.74099	CAT		0.607	ATPAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131934.3		NM_145691		7	114	0	0	0	0.006214	0	7	114		
GIT1	28964	broad.mit.edu	37	17	27909741	27909741	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:27909741C>T	ENST00000225394.3	-	4	628	c.380G>A	c.(379-381)gGa>gAa	p.G127E	RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Missense_Mutation_p.G127E|GIT1_ENST00000581348.1_Missense_Mutation_p.G127E|GIT1_ENST00000394869.3_Missense_Mutation_p.G127E	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	127					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G127E(2)		large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		GGCGGTGACTCCATCATCGTC	0.577																																					Colon(81;41 1719 20078 35068)	uc002hef.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(379-381)GGA>GAA		G protein-coupled receptor kinase interactor 1							72.0	68.0	69.0					17																	27909741		2203	4300	6503	SO:0001583	missense	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27909741C>T	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.380G>A	17.37:g.27909741C>T	ENSP00000225394:p.Gly127Glu					GIT1_uc002heg.2_Missense_Mutation_p.G127E|GIT1_uc010wbg.1_Missense_Mutation_p.G127E|GIT1_uc010csb.1_Missense_Mutation_p.G127E	p.G127E	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	4	594	-			127					B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	c.380G>A	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.920990	0.52653	.	.	ENSG00000108262	ENST00000225394;ENST00000394869;ENST00000335356	T;T	0.70749	-0.44;-0.51	4.48	4.48	0.54585	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	L	0.29908	0.895	0.58432	D	0.999991	B;P;P;B	0.37914	0.066;0.611;0.476;0.066	B;B;B;B	0.38842	0.068;0.283;0.147;0.027	T	0.56962	-0.7892	10	0.17369	T	0.5	.	16.4516	0.83993	0.0:1.0:0.0:0.0	.	131;127;127;127	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	E	127	ENSP00000225394:G127E;ENSP00000378338:G127E	ENSP00000225394:G127E	G	-	2	0	GIT1	24933867	0.910000	0.30920	0.900000	0.35374	0.970000	0.65996	5.932000	0.70121	2.499000	0.84300	0.555000	0.69702	GGA		0.577	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1		NM_014030		3	30	0	0	0	0.004672	0	3	30		
STH	246744	broad.mit.edu	37	17	44076786	44076786	+	Silent	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:44076786C>A	ENST00000537309.1	+	1	171	c.141C>A	c.(139-141)acC>acA	p.T47T	MAPT_ENST00000535772.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000344290.5_Intron|MAPT_ENST00000262410.5_Intron|MAPT_ENST00000415613.2_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000571987.1_Intron	NM_001007532.2	NP_001007533.1	Q8IWL8	STH_HUMAN	saitohin	47						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T47T(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGACAGAACCCTCAGCTTAG	0.537																																						uc002ijy.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(139-141)ACC>ACA		saitohin							123.0	122.0	122.0					17																	44076786		1970	4151	6121	SO:0001819	synonymous_variant	246744					cytoplasm|nucleus		g.chr17:44076786C>A	AA325304	CCDS54136.1	17q21.1	2008-01-22				ENSG00000256762			18839	protein-coding gene	gene with protein product	"""microtubule-associated protein tau (MAPT) intronic transcript"""	607067				12032355, 16186110	Standard	NM_001007532		Approved	MAPTIT	uc002ijy.2	Q8IWL8		ENST00000537309.1:c.141C>A	17.37:g.44076786C>A						MAPT_uc010dau.2_Intron|MAPT_uc002ijr.3_Intron|MAPT_uc002ijs.3_Intron|MAPT_uc002ijx.3_Intron|MAPT_uc002ijt.3_Intron|MAPT_uc002iju.3_Intron|MAPT_uc002ijv.3_Intron	p.T47T	NM_001007532	NP_001007533	Q8IWL8	STH_HUMAN			1	171	+			47					A1L3X7	Silent	SNP	ENST00000537309.1	37	c.141C>A	CCDS54136.1																																																																																				0.537	STH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400444.1				5	42	1	0	0.000602214	0.014758	0.000630224	5	42		
SP2	6668	broad.mit.edu	37	17	46000404	46000404	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:46000404C>T	ENST00000376741.4	+	4	1273	c.1136C>T	c.(1135-1137)aCc>aTc	p.T379I	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	379					cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)	p.T379I(1)		endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GCTGCAGCCACCTCTAACACC	0.587																																						uc002imk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1135-1137)ACC>ATC		Sp2 transcription factor							82.0	78.0	79.0					17																	46000404		2203	4300	6503	SO:0001583	missense	6668				immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding	g.chr17:46000404C>T		CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196	ENST00000376741.4:c.1136C>T	17.37:g.46000404C>T	ENSP00000365931:p.Thr379Ile					SP2_uc002iml.2_Missense_Mutation_p.T372I	p.T379I	NM_003110	NP_003101	Q02086	SP2_HUMAN			4	1273	+			379					A6NK74	Missense_Mutation	SNP	ENST00000376741.4	37	c.1136C>T	CCDS11521.2	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449831	0.63290	.	.	ENSG00000167182	ENST00000376741	T	0.09911	2.93	6.17	6.17	0.99709	.	0.351400	0.29972	N	0.010723	T	0.10508	0.0257	N	0.22421	0.69	0.58432	D	0.999991	B	0.06786	0.001	B	0.06405	0.002	T	0.20009	-1.0288	10	0.35671	T	0.21	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	379	Q02086	SP2_HUMAN	I	379	ENSP00000365931:T379I	ENSP00000365931:T379I	T	+	2	0	SP2	43355403	0.975000	0.34042	0.992000	0.48379	0.977000	0.68977	4.332000	0.59279	2.941000	0.99782	0.655000	0.94253	ACC		0.587	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316777.1		NM_003110		13	69	0	0	0	0.016723	0	13	69		
DLX3	1747	broad.mit.edu	37	17	48072068	48072068	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:48072068G>A	ENST00000434704.2	-	1	520	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	DLX3_ENST00000512495.2_5'Flank|RP11-1094H24.3_ENST00000511867.1_lincRNA	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	99					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R99W(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GGCTGCTCCCGATACGCCCCG	0.627																																						uc002ipy.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(295-297)CGG>TGG		distal-less homeobox 3							26.0	32.0	30.0					17																	48072068		2203	4299	6502	SO:0001583	missense	1747					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48072068G>A		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.295C>T	17.37:g.48072068G>A	ENSP00000389870:p.Arg99Trp						p.R99W	NM_005220	NP_005211	O60479	DLX3_HUMAN			1	521	-			99					B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	c.295C>T	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.775506	0.49786	.	.	ENSG00000064195	ENST00000434704	D	0.90955	-2.76	5.01	3.02	0.34903	.	0.307523	0.30611	N	0.009253	D	0.92698	0.7679	M	0.66939	2.045	0.80722	D	1	D	0.61697	0.99	P	0.59595	0.86	D	0.91069	0.4891	10	0.38643	T	0.18	-41.1407	12.7308	0.57197	0.0:0.0:0.7:0.3	.	99	O60479	DLX3_HUMAN	W	99	ENSP00000389870:R99W	ENSP00000389870:R99W	R	-	1	2	DLX3	45427067	0.995000	0.38212	1.000000	0.80357	0.663000	0.39108	0.737000	0.26144	0.704000	0.31869	-1.723000	0.00705	CGG		0.627	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1				8	29	0	0	0	0.004482	0	8	29		
BRIP1	83990	broad.mit.edu	37	17	59934548	59934548	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:59934548A>T	ENST00000259008.2	-	4	517	c.250T>A	c.(250-252)Ttg>Atg	p.L84M	BRIP1_ENST00000577598.1_Missense_Mutation_p.L84M	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	84	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L84M(2)		NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CAACATGACAATTGTACTTCA	0.343			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														uc002izk.1		NaN	yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	F|N|Mis	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		AML|leukemia|breast			2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(250-252)TTG>ATG	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	BRCA1 interacting protein C-terminal helicase 1							198.0	177.0	184.0					17																	59934548		2203	4300	6503	SO:0001583	missense	83990	Fanconi_Anemia			DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59934548A>T	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.250T>A	17.37:g.59934548A>T	ENSP00000259008:p.Leu84Met						p.L84M	NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN			4	391	-			84			Helicase ATP-binding.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.250T>A	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	A	11.24	1.579806	0.28180	.	.	ENSG00000136492	ENST00000259008	T	0.55234	0.53	5.24	-0.659	0.11424	DEAD-like helicase (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	1.791470	0.02337	N	0.074477	T	0.50103	0.1596	L	0.51422	1.61	0.09310	N	1	P	0.44877	0.845	P	0.44732	0.459	T	0.36040	-0.9764	9	.	.	.	8.6601	4.7362	0.12989	0.5253:0.1587:0.3159:0.0	.	84	Q9BX63	FANCJ_HUMAN	M	84	ENSP00000259008:L84M	.	L	-	1	2	BRIP1	57289330	0.008000	0.16893	0.024000	0.17045	0.158000	0.22134	0.206000	0.17375	-0.261000	0.09405	0.528000	0.53228	TTG		0.343	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1		NM_032043		13	72	0	0	0	0.016723	0	13	72		
KCNH6	81033	broad.mit.edu	37	17	61623123	61623123	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:61623123C>G	ENST00000583023.1	+	14	2856	c.2845C>G	c.(2845-2847)Cta>Gta	p.L949V	KCNH6_ENST00000456941.2_Missense_Mutation_p.L860V|KCNH6_ENST00000581784.1_Missense_Mutation_p.L860V|KCNH6_ENST00000314672.5_Missense_Mutation_p.L913V	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	949					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.L949V(1)|p.L949I(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	AGCCTCACCTCTACATCCCCT	0.587																																						uc002jay.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	skin(1)	1						c.(2845-2847)CTA>GTA		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						122.0	113.0	116.0					17																	61623123		2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61623123C>G	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.2845C>G	17.37:g.61623123C>G	ENSP00000463533:p.Leu949Val					KCNH6_uc010wpl.1_Missense_Mutation_p.L790V|KCNH6_uc010wpm.1_Missense_Mutation_p.L913V|KCNH6_uc002jaz.1_Missense_Mutation_p.L860V	p.L949V	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			14	2925	+			949			Cytoplasmic (Potential).		Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.2845C>G	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	C	6.652	0.488725	0.12641	.	.	ENSG00000173826	ENST00000314672;ENST00000456941	D	0.99329	-5.75	4.84	1.5	0.22942	.	2.653950	0.02191	U	0.061395	D	0.97445	0.9164	L	0.44542	1.39	0.24774	N	0.992853	B;B;B;B	0.11235	0.0;0.001;0.001;0.004	B;B;B;B	0.09377	0.001;0.003;0.003;0.004	D	0.93179	0.6573	10	0.16896	T	0.51	.	5.5142	0.16898	0.1441:0.6352:0.1391:0.0816	.	790;913;860;949	B4DPJ3;B4DKC0;Q9H252-2;Q9H252	.;.;.;KCNH6_HUMAN	V	949;860	ENSP00000396900:L860V	ENSP00000318212:L949V	L	+	1	2	KCNH6	58976855	0.999000	0.42202	0.051000	0.19133	0.024000	0.10985	2.448000	0.44926	0.112000	0.17975	0.563000	0.77884	CTA		0.587	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1		NM_030779		9	99	0	0	0	0.004482	0	9	99		
DDX42	11325	broad.mit.edu	37	17	61897650	61897650	+	IGR	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:61897650T>C	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Missense_Mutation_p.K741E	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)	p.K741E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TCAGCCACCTTCTTGATGGGA	0.562																																						uc002jbz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2221-2223)AAG>GAG		FtsJ homolog 3							149.0	139.0	142.0					17																	61897650		2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61897650T>C	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897650T>C						FTSJ3_uc002jca.2_Missense_Mutation_p.K741E	p.K741E	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN			18	2299	-			741					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.2221A>G	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	T	16.65	3.183525	0.57800	.	.	ENSG00000108592	ENST00000427159	T	0.60548	0.18	4.9	4.9	0.64082	Ribosomal RNA methyltransferase, Spb1, C-terminal (1);	0.162718	0.42053	D	0.000773	T	0.70316	0.3210	M	0.90198	3.095	0.40856	D	0.983792	P	0.47484	0.896	P	0.48368	0.575	T	0.78352	-0.2237	10	0.62326	D	0.03	-16.162	12.5303	0.56111	0.0:0.0:0.0:1.0	.	741	Q8IY81	RRMJ3_HUMAN	E	741	ENSP00000396673:K741E	ENSP00000396673:K741E	K	-	1	0	FTSJ3	59251382	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	4.979000	0.63806	2.054000	0.61138	0.460000	0.39030	AAG		0.562	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1		NM_007372		8	105	0	0	0	0.004482	0	8	105		
ABCA8	10351	broad.mit.edu	37	17	66937049	66937049	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:66937049G>A	ENST00000269080.2	-	3	288	c.151C>T	c.(151-153)Cat>Tat	p.H51Y	ABCA8_ENST00000586539.1_Missense_Mutation_p.H51Y|ABCA8_ENST00000430352.2_Missense_Mutation_p.H51Y	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	51					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.H51Y(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTTACTTGATGACTATGAGGA	0.323																																						uc002jhp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(151-153)CAT>TAT		ATP-binding cassette, sub-family A member 8							65.0	64.0	64.0					17																	66937049		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66937049G>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.151C>T	17.37:g.66937049G>A	ENSP00000269080:p.His51Tyr					ABCA8_uc002jhq.2_Missense_Mutation_p.H51Y|ABCA8_uc010wqq.1_Missense_Mutation_p.H51Y|ABCA8_uc010wqr.1_5'UTR|ABCA8_uc002jhr.2_Missense_Mutation_p.H51Y|ABCA8_uc002jhs.2_Missense_Mutation_p.H51Y|ABCA8_uc002jht.2_Missense_Mutation_p.H51Y	p.H51Y	NM_007168	NP_009099	O94911	ABCA8_HUMAN			3	330	-	Breast(10;4.56e-13)		51					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.151C>T	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	G	11.26	1.585674	0.28268	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000428549	D;D	0.86497	-2.13;-2.13	5.23	3.17	0.36434	.	0.000000	0.46758	D	0.000264	D	0.84674	0.5524	M	0.81802	2.56	0.09310	N	1	P;P;B;P	0.43352	0.804;0.706;0.22;0.706	P;B;B;B	0.46208	0.507;0.425;0.141;0.425	T	0.74627	-0.3602	10	0.02654	T	1	.	5.7524	0.18154	0.0965:0.0:0.71:0.1934	.	51;51;51;51	A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;ABCA8_HUMAN	Y	51	ENSP00000269080:H51Y;ENSP00000402814:H51Y	ENSP00000269080:H51Y	H	-	1	0	ABCA8	64448644	0.033000	0.19621	0.295000	0.24960	0.011000	0.07611	1.028000	0.30128	2.725000	0.93324	0.655000	0.94253	CAT		0.323	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1		NM_007168		3	30	0	0	0	0.004672	0	3	30		
ABCA9	10350	broad.mit.edu	37	17	67045523	67045523	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:67045523C>T	ENST00000340001.4	-	3	416	c.205G>A	c.(205-207)Gat>Aat	p.D69N	ABCA9_ENST00000453985.2_Missense_Mutation_p.D69N|ABCA9_ENST00000495634.1_Missense_Mutation_p.D69N|ABCA9_ENST00000370732.2_Missense_Mutation_p.D69N	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	69					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D69N(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTAAAACTATCTACACGTCCC	0.363																																						uc002jhu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(205-207)GAT>AAT		ATP-binding cassette, sub-family A, member 9							160.0	159.0	159.0					17																	67045523		2203	4300	6503	SO:0001583	missense	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67045523C>T	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.205G>A	17.37:g.67045523C>T	ENSP00000342216:p.Asp69Asn					ABCA9_uc010dez.2_Missense_Mutation_p.D69N|ABCA9_uc002jhv.2_Missense_Mutation_p.D69N	p.D69N	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN			3	348	-	Breast(10;1.47e-12)		69					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	ENST00000340001.4	37	c.205G>A	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662008	0.47572	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	D;D	0.88586	-2.4;-2.4	4.78	4.78	0.61160	.	0.000000	0.39985	N	0.001204	D	0.93213	0.7838	M	0.77486	2.375	0.30571	N	0.763512	D;D	0.67145	0.996;0.994	P;D	0.66196	0.86;0.942	D	0.90766	0.4668	10	0.44086	T	0.13	.	13.5025	0.61465	0.0:1.0:0.0:0.0	.	69;69	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	N	69;52;69;64	ENSP00000342216:D69N;ENSP00000359767:D69N	ENSP00000342216:D69N	D	-	1	0	ABCA9	64557118	0.942000	0.31987	0.921000	0.36526	0.009000	0.06853	3.858000	0.55979	2.650000	0.89964	0.650000	0.86243	GAT		0.363	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2		NM_172386		14	85	0	0	0	0.020292	0	14	85		
ABCA10	10349	broad.mit.edu	37	17	67189995	67189995	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:67189995G>T	ENST00000269081.4	-	14	2390	c.1481C>A	c.(1480-1482)gCt>gAt	p.A494D	ABCA10_ENST00000416101.2_Intron	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	494	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.A494D(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTTTATTTTAGCAAATACCCT	0.328																																						uc010dfa.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(1480-1482)GCT>GAT		ATP-binding cassette, sub-family A, member 10							133.0	135.0	134.0					17																	67189995		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67189995G>T	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1481C>A	17.37:g.67189995G>T	ENSP00000269081:p.Ala494Asp					ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.A95D	p.A494D	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			14	2360	-	Breast(10;6.95e-12)		494			ABC transporter 1.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.1481C>A	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.460610	0.84317	.	.	ENSG00000154263	ENST00000269081	T	0.42131	0.98	3.71	3.71	0.42584	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.32204	U	0.006437	T	0.69314	0.3097	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.78288	-0.2262	10	0.87932	D	0	.	15.6425	0.77016	0.0:0.0:1.0:0.0	.	494;494	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	D	494	ENSP00000269081:A494D	ENSP00000269081:A494D	A	-	2	0	ABCA10	64701590	1.000000	0.71417	0.825000	0.32803	0.986000	0.74619	8.515000	0.90548	1.880000	0.54463	0.557000	0.71058	GCT		0.328	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4		NM_080282		9	101	1	0	9.70103e-10	0.008291	1.10054e-09	9	101		
FOXK2	3607	broad.mit.edu	37	17	80529635	80529635	+	Silent	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:80529635G>C	ENST00000335255.5	+	4	972	c.798G>C	c.(796-798)ctG>ctC	p.L266L		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	266					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L266L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ACGCGCAGCTGATAGTTCAGG	0.398																																						uc002kfn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(796-798)CTG>CTC		forkhead box K2							72.0	64.0	67.0					17																	80529635		2203	4300	6503	SO:0001819	synonymous_variant	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80529635G>C	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.798G>C	17.37:g.80529635G>C						FOXK2_uc002kfm.1_Silent_p.L266L|FOXK2_uc010diu.2_Silent_p.L266L	p.L266L	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		4	969	+	Breast(20;0.00106)|all_neural(118;0.0952)		266			Fork-head.		A6NEP5|Q13622|Q13623|Q13624	Silent	SNP	ENST00000335255.5	37	c.798G>C	CCDS11813.1																																																																																				0.398	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2		NM_181430		7	52	0	0	0	0.00308	0	7	52		
TRAPPC8	22878	broad.mit.edu	37	18	29511315	29511315	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr18:29511315C>T	ENST00000283351.4	-	2	664	c.329G>A	c.(328-330)gGa>gAa	p.G110E	TRAPPC8_ENST00000584876.1_5'UTR|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.G110E|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.G56E	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	110					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.G110E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTCATAATCTCCTGCTGTAAT	0.408																																						uc002kxc.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(328-330)GGA>GAA		hypothetical protein LOC22878							125.0	119.0	121.0					18																	29511315		2203	4300	6503	SO:0001583	missense	22878				ER to Golgi vesicle-mediated transport	cis-Golgi network		g.chr18:29511315C>T	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.329G>A	18.37:g.29511315C>T	ENSP00000283351:p.Gly110Glu					KIAA1012_uc002kxb.3_Missense_Mutation_p.G56E|KIAA1012_uc002kxd.3_RNA|KIAA1012_uc002kxe.2_Missense_Mutation_p.G110E	p.G110E	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN			2	693	-			110					A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	c.329G>A	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880390	0.51801	.	.	ENSG00000153339	ENST00000283351	T	0.09445	2.98	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.23249	0.0562	L	0.59436	1.845	0.58432	D	0.999996	P;P	0.49961	0.563;0.93	B;P	0.52881	0.139;0.712	T	0.00132	-1.2011	10	0.27082	T	0.32	.	18.6326	0.91366	0.0:1.0:0.0:0.0	.	110;110	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	E	110	ENSP00000283351:G110E	ENSP00000283351:G110E	G	-	2	0	TRAPPC8	27765313	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.733000	0.74796	2.838000	0.97847	0.591000	0.81541	GGA		0.408	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1		NM_014939		10	94	0	0	0	0.010729	0	10	94		
RIT2	6014	broad.mit.edu	37	18	40323522	40323522	+	Missense_Mutation	SNP	C	C	G	rs77976328		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr18:40323522C>G	ENST00000326695.5	-	5	761	c.590G>C	c.(589-591)aGa>aCa	p.R197T	RIT2_ENST00000590910.1_3'UTR|RIT2_ENST00000589109.1_3'UTR	NM_002930.2	NP_002921.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	197					neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R197T(1)|p.K198fs*>19(1)		endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTGTCTTTTCTCTTCAGTTT	0.413																																						uc002lav.2		NaN																	2	Substitution - Missense(1)|Deletion - Frameshift(1)		urinary_tract(1)|large_intestine(1)	ovary(1)	1						c.(589-591)AGA>ACA		Ras-like without CAAX 2							144.0	149.0	147.0					18																	40323522		2203	4300	6503	SO:0001583	missense	6014				nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity	g.chr18:40323522C>G	BC018060	CCDS11921.1, CCDS62431.1	18q12.3	2014-05-09	2002-09-11	2002-09-13	ENSG00000152214	ENSG00000152214			10017	protein-coding gene	gene with protein product		609592	"""Ric (Drosophila)-like, expressed in neurons"""	RIN		8824319, 8918462	Standard	NM_002930		Approved	RIBA	uc002lav.4	Q99578	OTTHUMG00000132611	ENST00000326695.5:c.590G>C	18.37:g.40323522C>G	ENSP00000321805:p.Arg197Thr					RIT2_uc010dnf.2_3'UTR	p.R197T	NM_002930	NP_002921	Q99578	RIT2_HUMAN			5	763	-			197					B2R9L1|O15295|Q8TD69|Q8WVF6|Q92964	Missense_Mutation	SNP	ENST00000326695.5	37	c.590G>C	CCDS11921.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149677	0.37923	.	.	ENSG00000152214	ENST00000326695	T	0.79845	-1.31	5.41	5.41	0.78517	.	.	.	.	.	T	0.62527	0.2435	N	0.08118	0	0.80722	D	1	B	0.25105	0.118	B	0.21917	0.037	T	0.61811	-0.6986	9	0.49607	T	0.09	.	9.2299	0.37430	0.0:0.7766:0.1469:0.0765	.	197	Q99578	RIT2_HUMAN	T	197	ENSP00000321805:R197T	ENSP00000321805:R197T	R	-	2	0	RIT2	38577520	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.252000	0.43196	2.551000	0.86045	0.655000	0.94253	AGA		0.413	RIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255852.1		NM_002930		23	152	0	0	0	0.021523	0	23	152		
CATSPERD	257062	broad.mit.edu	37	19	5772930	5772930	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:5772930C>A	ENST00000381624.3	+	20	1956	c.1895C>A	c.(1894-1896)aCc>aAc	p.T632N	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	632					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)		p.T632N(1)									CAGAACTGGACCACCATGATA	0.567																																						uc002mda.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1894-1896)ACC>AAC		transmembrane protein 146 precursor							50.0	55.0	53.0					19																	5772930		1931	4140	6071	SO:0001583	missense	257062					integral to membrane		g.chr19:5772930C>A	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1895C>A	19.37:g.5772930C>A	ENSP00000371037:p.Thr632Asn						p.T632N	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			20	1956	+			632			Extracellular (Potential).		Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.1895C>A	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610895	0.46527	.	.	ENSG00000174898	ENST00000381624;ENST00000381613	T	0.23552	1.9	3.22	-3.62	0.04543	.	1.601320	0.04210	N	0.331584	T	0.35422	0.0931	L	0.52573	1.65	0.44168	D	0.996972	P	0.52316	0.952	P	0.51055	0.657	T	0.56619	-0.7949	10	0.45353	T	0.12	-15.233	14.3913	0.66981	0.0:0.2613:0.7387:0.0	.	632	Q86XM0	TM146_HUMAN	N	632;301	ENSP00000371037:T632N	ENSP00000371026:T301N	T	+	2	0	TMEM146	5723930	0.028000	0.19301	0.515000	0.27774	0.127000	0.20565	-0.554000	0.06006	-0.474000	0.06862	-1.140000	0.01884	ACC		0.567	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2		NM_152784		3	40	1	0	0.00024832	0.009096	0.000262927	3	40		
MYO9B	4650	broad.mit.edu	37	19	17263473	17263473	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:17263473C>G	ENST00000594824.1	+	4	1102	c.955C>G	c.(955-957)Ctg>Gtg	p.L319V	CTD-3032J10.2_ENST00000599360.1_RNA|CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.L319V|MYO9B_ENST00000595618.1_Missense_Mutation_p.L319V			Q13459	MYO9B_HUMAN	myosin IXB	319	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.L319V(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CGAGAAATATCTGCTTGAAAA	0.378																																						uc010eak.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	breast(1)	1						c.(955-957)CTG>GTG		myosin IXB isoform 1							105.0	100.0	102.0					19																	17263473		1884	4119	6003	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17263473C>G		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.955C>G	19.37:g.17263473C>G	ENSP00000471367:p.Leu319Val					MYO9B_uc002nfi.2_Missense_Mutation_p.L319V|MYO9B_uc002nfj.1_Missense_Mutation_p.L319V	p.L319V	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			4	1107	+			319			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.955C>G		.	.	.	.	.	.	.	.	.	.	C	19.72	3.879464	0.72294	.	.	ENSG00000099331	ENST00000397274	T	0.77620	-1.11	5.04	5.04	0.67666	Myosin head, motor domain (2);	0.000000	0.41712	D	0.000834	D	0.92747	0.7694	H	0.98883	4.36	0.45087	D	0.998109	P;P;D	0.55605	0.944;0.944;0.972	D;D;P	0.64687	0.928;0.928;0.895	D	0.95704	0.8752	10	0.87932	D	0	.	16.9399	0.86215	0.0:1.0:0.0:0.0	.	319;319;325	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	V	319	ENSP00000380444:L319V	ENSP00000380444:L319V	L	+	1	2	MYO9B	17124473	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.476000	0.60216	2.338000	0.79540	0.561000	0.74099	CTG		0.378	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1				4	35	0	0	0	0.021553	0	4	35		
ZNF536	9745	broad.mit.edu	37	19	31039753	31039753	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:31039753C>G	ENST00000355537.3	+	4	3374	c.3227C>G	c.(3226-3228)tCt>tGt	p.S1076C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1076					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.S1076C(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GACTCTGCTTCTGAGAAGATG	0.552																																						uc002nsu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(3226-3228)TCT>TGT		zinc finger protein 536							60.0	65.0	63.0					19																	31039753		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039753C>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.3227C>G	19.37:g.31039753C>G	ENSP00000347730:p.Ser1076Cys					ZNF536_uc010edd.1_Missense_Mutation_p.S1076C	p.S1076C	NM_014717	NP_055532	O15090	ZN536_HUMAN			4	3365	+	Esophageal squamous(110;0.0834)		1076					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.3227C>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	8.952	0.968442	0.18659	.	.	ENSG00000198597	ENST00000355537	T	0.08984	3.03	5.74	4.72	0.59763	.	0.633784	0.17316	N	0.178682	T	0.08846	0.0219	N	0.24115	0.695	0.24954	N	0.991771	P;P	0.45348	0.856;0.856	B;B	0.43360	0.417;0.417	T	0.11767	-1.0574	10	0.56958	D	0.05	-0.7642	14.6101	0.68510	0.0:0.9301:0.0:0.0699	.	1076;1076	A7E228;O15090	.;ZN536_HUMAN	C	1076	ENSP00000347730:S1076C	ENSP00000347730:S1076C	S	+	2	0	ZNF536	35731593	0.706000	0.27856	0.002000	0.10522	0.303000	0.27691	2.442000	0.44873	1.424000	0.47217	0.655000	0.94253	TCT		0.552	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2		NM_014717		8	61	0	0	0	0.00308	0	8	61		
KIAA0355	9710	broad.mit.edu	37	19	34832940	34832940	+	Missense_Mutation	SNP	C	C	T	rs144261536		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:34832940C>T	ENST00000299505.6	+	10	2974	c.2101C>T	c.(2101-2103)Cgg>Tgg	p.R701W		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	701								p.R701W(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CCCTCCACCACGGGCACCCCA	0.612																																						uc002nvd.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2101-2103)CGG>TGG		hypothetical protein LOC9710		C	TRP/ARG	0,4406		0,0,2203	72.0	75.0	74.0		2101	5.5	0.5	19	dbSNP_134	74	1,8597	1.2+/-3.3	0,1,4298	yes	missense	KIAA0355	NM_014686.3	101	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	701/1071	34832940	1,13003	2203	4299	6502	SO:0001583	missense	9710							g.chr19:34832940C>T		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.2101C>T	19.37:g.34832940C>T	ENSP00000299505:p.Arg701Trp						p.R701W	NM_014686	NP_055501	O15063	K0355_HUMAN			10	2960	+	Esophageal squamous(110;0.162)		701					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.2101C>T	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	18.51	3.639679	0.67244	0.0	1.16E-4	ENSG00000166398	ENST00000299505	T	0.25250	1.81	5.53	5.53	0.82687	.	0.878922	0.09791	N	0.755403	T	0.28433	0.0703	N	0.14661	0.345	0.45452	D	0.998425	D	0.63880	0.993	P	0.50896	0.653	T	0.18085	-1.0348	10	0.87932	D	0	-0.7012	16.6145	0.84903	0.0:1.0:0.0:0.0	.	701	O15063	K0355_HUMAN	W	701	ENSP00000299505:R701W	ENSP00000299505:R701W	R	+	1	2	KIAA0355	39524780	0.983000	0.35010	0.465000	0.27155	0.914000	0.54420	2.966000	0.49208	2.602000	0.87976	0.655000	0.94253	CGG		0.612	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4		NM_014686		8	94	0	0	0	0.004482	0	8	94		
CIC	23152	broad.mit.edu	37	19	42793047	42793047	+	Silent	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:42793047T>C	ENST00000575354.2	+	7	979	c.939T>C	c.(937-939)tcT>tcC	p.S313S	CIC_ENST00000572681.2_Silent_p.S1222S|CIC_ENST00000160740.3_Silent_p.S313S	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S313S(1)		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)				CAGTGTCCTCTGAGCTCCTGT	0.562			"""Mis, F, S"""		oligodendroglioma																																	uc002otf.1		NaN		Rec	yes		19	19q13.2	23152	T	capicua homolog			O	DUX4		soft tissue sarcoma		1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11						c.(937-939)TCT>TCC		capicua homolog							41.0	37.0	39.0					19																	42793047		2203	4300	6503	SO:0001819	synonymous_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42793047T>C	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.939T>C	19.37:g.42793047T>C							p.S313S	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			7	979	+		Prostate(69;0.00682)	313					Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	37	c.939T>C	CCDS12601.1																																																																																				0.562	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2				5	42	0	0	0	0.028581	0	5	42		
CIC	23152	broad.mit.edu	37	19	42793049	42793049	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:42793049A>T	ENST00000575354.2	+	7	981	c.941A>T	c.(940-942)gAg>gTg	p.E314V	CIC_ENST00000572681.2_Missense_Mutation_p.E1223V|CIC_ENST00000160740.3_Missense_Mutation_p.E314V	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	314					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E314V(1)		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)				GTGTCCTCTGAGCTCCTGTCC	0.557			"""Mis, F, S"""		oligodendroglioma																																	uc002otf.1		NaN		Rec	yes		19	19q13.2	23152	T	capicua homolog			O	DUX4		soft tissue sarcoma		1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11						c.(940-942)GAG>GTG		capicua homolog							42.0	38.0	39.0					19																	42793049		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42793049A>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.941A>T	19.37:g.42793049A>T	ENSP00000458663:p.Glu314Val						p.E314V	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			7	981	+		Prostate(69;0.00682)	314					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.941A>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.570037	0.45798	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	T	0.53674	0.1811	N	0.14661	0.345	0.44067	D	0.996811	D	0.71674	0.998	D	0.73708	0.981	T	0.60031	-0.7342	8	0.87932	D	0	-21.3136	10.7994	0.46480	1.0:0.0:0.0:0.0	.	314	Q96RK0	CIC_HUMAN	V	314	.	ENSP00000160740:E314V	E	+	2	0	CIC	47484889	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	3.708000	0.54845	2.059000	0.61396	0.454000	0.30748	GAG		0.557	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2				4	44	0	0	0	0.024245	0	4	44		
PINLYP	390940	broad.mit.edu	37	19	44079154	44079154	+	5'Flank	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:44079154T>C	ENST00000599207.1	+	0	0				L34079.2_ENST00000594374.1_Intron|XRCC1_ENST00000543982.1_Intron|XRCC1_ENST00000262887.5_Splice_Site_p.T18A|L34079.4_ENST00000600242.1_RNA	NM_001193621.1	NP_001180550.1	A6NC86	PINLY_HUMAN	phospholipase A2 inhibitor and LY6/PLAUR domain containing							extracellular region (GO:0005576)	phospholipase inhibitor activity (GO:0004859)	p.T18A(1)									GCACAGTGAGTCTGGAAACAA	0.527																																						uc002owt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(2)|large_intestine(1)|prostate(1)|breast(1)	7						c.(52-54)ACT>GCT	Other_BER_factors	X-ray repair cross complementing protein 1							102.0	84.0	90.0					19																	44079154		2203	4300	6503	SO:0001631	upstream_gene_variant	7515				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding	g.chr19:44079154T>C		CCDS58667.1, CCDS74385.1	19q13.31	2012-07-20			ENSG00000234465	ENSG00000234465			44206	protein-coding gene	gene with protein product							Standard	NM_001193621		Approved		uc021uvg.1	A6NC86	OTTHUMG00000175560		19.37:g.44079154T>C	Exception_encountered					XRCC1_uc010xwp.1_Intron|uc010xwq.1_5'Flank	p.T18A	NM_006297	NP_006288	P18887	XRCC1_HUMAN			2	172	-		Prostate(69;0.0153)	18					B7Z457|O95053	Missense_Mutation	SNP	ENST00000599207.1	37	c.52A>G		.	.	.	.	.	.	.	.	.	.	T	13.19	2.164027	0.38217	.	.	ENSG00000073050	ENST00000458471;ENST00000262887;ENST00000538738	T	0.21543	2.0	3.64	2.63	0.31362	DNA-repair protein Xrcc1, N-terminal (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.24236	0.0587	L	0.31926	0.97	0.80722	D	1	P	0.43826	0.818	P	0.55871	0.786	T	0.02450	-1.1157	10	0.38643	T	0.18	-26.3333	5.7643	0.18217	0.0:0.12:0.0:0.88	.	18	P18887	XRCC1_HUMAN	A	32;18;18	ENSP00000262887:T18A	ENSP00000262887:T18A	T	-	1	0	XRCC1	48770994	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	2.090000	0.41682	0.781000	0.33589	0.533000	0.62120	ACT		0.527	PINLYP-005	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463346.2		NM_001193621		6	26	0	0	0	0.021553	0	6	26		
ZNF283	284349	broad.mit.edu	37	19	44352248	44352249	+	Missense_Mutation	DNP	GG	GG	TC			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:44352248_44352249GG>TC	ENST00000324461.7	+	7	1792_1793	c.1495_1496GG>TC	c.(1495-1497)GGg>TCg	p.G499S	ZNF283_ENST00000588797.1_Missense_Mutation_p.G360S	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	499					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.G499W(1)|p.G499A(1)		endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				CTTTTGTAGTGGGTATCAACTT	0.411																																						uc002oxr.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1495-1497)GGG>TCG		zinc finger protein 283																																				SO:0001583	missense	284349				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44352248_44352249GG>TC	AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		Exception_encountered	19.37:g.44352248_44352249delinsTC	ENSP00000327314:p.Gly499Ser					ZNF283_uc002oxp.3_Missense_Mutation_p.G360S	p.G499S	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN			7	1763_1764	+		Prostate(69;0.0352)	499			C2H2-type 11.		B4DGZ5|B7WP04|Q6RFR9|Q86WM6	Missense_Mutation	DNP	ENST00000324461.7	37	c.1495_1496GG>TC	CCDS46097.1																																																																																				0.411	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459909.1		NM_181845		21	101	0	0	0	0.004672	0	21	101		
ERCC2	2068	broad.mit.edu	37	19	45855835	45855835	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:45855835G>A	ENST00000391945.4	-	21	2052	c.1975C>T	c.(1975-1977)Cac>Tac	p.H659Y	ERCC2_ENST00000391944.3_Missense_Mutation_p.H581Y	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	659					7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.H659Y(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TGGGCCGCGTGGCGCATGGCA	0.612			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NaN	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|pancreas(1)	3						c.(1975-1977)CAC>TAC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							63.0	55.0	58.0					19																	45855835		2203	4300	6503	SO:0001583	missense	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45855835G>A		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.1975C>T	19.37:g.45855835G>A	ENSP00000375809:p.His659Tyr					ERCC2_uc002pbh.2_Missense_Mutation_p.H222Y|ERCC2_uc002pbi.2_Missense_Mutation_p.H352Y|ERCC2_uc010ejz.2_Missense_Mutation_p.H581Y|ERCC2_uc002pbk.2_Missense_Mutation_p.H635Y	p.H659Y	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	21	2022	-		Ovarian(192;0.0728)|all_neural(266;0.112)	659					Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.1975C>T	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.303780	0.81136	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944	D;D	0.91686	-2.89;-2.89	5.63	5.63	0.86233	Helicase, ATP-dependent, c2 type (1);	0.103488	0.64402	D	0.000004	D	0.96352	0.8810	M	0.86178	2.8	0.80722	D	1	D;P;D	0.76494	0.997;0.936;0.999	D;D;D	0.73380	0.953;0.916;0.98	D	0.96709	0.9524	10	0.87932	D	0	-43.2047	17.1708	0.86830	0.0:0.0:1.0:0.0	.	581;659;352	E7EVE9;P18074;Q6ZNQ5	.;ERCC2_HUMAN;.	Y	609;635;659;581	ENSP00000375809:H659Y;ENSP00000375808:H581Y	ENSP00000375805:H609Y	H	-	1	0	ERCC2	50547675	1.000000	0.71417	1.000000	0.80357	0.411000	0.31082	8.706000	0.91362	2.655000	0.90218	0.462000	0.41574	CAC		0.612	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		NM_000400		19	57	0	0	0	0.006122	0	19	57		
PTGIR	5739	broad.mit.edu	37	19	47124901	47124901	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:47124901G>C	ENST00000291294.2	-	3	930	c.797C>G	c.(796-798)cCt>cGt	p.P266R	PTGIR_ENST00000594275.1_Missense_Mutation_p.P23R|PTGIR_ENST00000597185.1_5'UTR|PTGIR_ENST00000598865.1_Missense_Mutation_p.P54R	NM_000960.3	NP_000951.1	P43119	PI2R_HUMAN	prostaglandin I2 (prostacyclin) receptor (IP)	266					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of GTPase activity (GO:0043547)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.P266R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	13		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	Dinoprost Tromethamine(DB01160)|Epoprostenol(DB01240)|Iloprost(DB01088)|Treprostinil(DB00374)	GCTGCTGTCAGGGGCGACAGC	0.642																																						uc002pex.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(796-798)CCT>CGT		prostaglandin I2 (prostacyclin) receptor (IP)	Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929)						37.0	33.0	35.0					19																	47124901		2163	4238	6401	SO:0001583	missense	5739				cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity	g.chr19:47124901G>C		CCDS12686.1	19q13.3	2012-08-08				ENSG00000160013		"""GPCR / Class A : Prostanoid receptors"""	9602	protein-coding gene	gene with protein product		600022				7759114	Standard	NM_000960		Approved	IP	uc002pex.3	P43119		ENST00000291294.2:c.797C>G	19.37:g.47124901G>C	ENSP00000291294:p.Pro266Arg						p.P266R	NM_000960	NP_000951	P43119	PI2R_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331)	3	910	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	266			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000291294.2	37	c.797C>G	CCDS12686.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526377	0.44969	.	.	ENSG00000160013	ENST00000291294	T	0.43688	0.94	4.39	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.148588	0.44902	D	0.000401	T	0.47284	0.1437	L	0.39245	1.2	0.20489	N	0.999892	D	0.63046	0.992	P	0.62885	0.908	T	0.27773	-1.0064	10	0.23302	T	0.38	-16.044	9.6702	0.40008	0.0:0.0:0.7924:0.2076	.	266	P43119	PI2R_HUMAN	R	266	ENSP00000291294:P266R	ENSP00000291294:P266R	P	-	2	0	PTGIR	51816741	1.000000	0.71417	0.905000	0.35620	0.359000	0.29487	5.479000	0.66813	2.252000	0.74401	0.561000	0.74099	CCT		0.642	PTGIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466581.1				10	32	0	0	0	0.008291	0	10	32		
ALDH16A1	126133	broad.mit.edu	37	19	49967904	49967904	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:49967904C>T	ENST00000293350.4	+	12	1616	c.1453C>T	c.(1453-1455)Ctg>Ttg	p.L485L	CTD-3148I10.9_ENST00000599536.1_3'UTR|ALDH16A1_ENST00000433981.2_Silent_p.L320L|ALDH16A1_ENST00000455361.2_Silent_p.L434L|ALDH16A1_ENST00000540132.1_Silent_p.L322L	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	485						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.L485L(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GTATGAGTATCTGCGGCCCTC	0.662																																						uc002pnt.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(1453-1455)CTG>TTG		aldehyde dehydrogenase 16 family, member A1							105.0	108.0	107.0					19																	49967904		2203	4300	6503	SO:0001819	synonymous_variant	126133						oxidoreductase activity|protein binding	g.chr19:49967904C>T	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.1453C>T	19.37:g.49967904C>T						ALDH16A1_uc010yar.1_Silent_p.L434L|ALDH16A1_uc010yas.1_Silent_p.L320L|ALDH16A1_uc010yat.1_Silent_p.L322L	p.L485L	NM_153329	NP_699160	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	12	1569	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	485					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Silent	SNP	ENST00000293350.4	37	c.1453C>T	CCDS12766.1																																																																																				0.662	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1		NM_153329		9	137	0	0	0	0.004482	0	9	137		
ZNF468	90333	broad.mit.edu	37	19	53352431	53352431	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:53352431G>A	ENST00000595646.1	-	3	171	c.51C>T	c.(49-51)ttC>ttT	p.F17F	ZNF468_ENST00000396409.4_5'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_Silent_p.F17F|ZNF468_ENST00000390651.4_5'UTR			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F17F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CCTCCTGAGAGAATTCTATGG	0.443																																						uc002qaf.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(49-51)TTC>TTT		zinc finger protein ZNF468 isoform 2							142.0	149.0	147.0					19																	53352431		2203	4297	6500	SO:0001819	synonymous_variant	90333				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53352431G>A	AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.51C>T	19.37:g.53352431G>A						ZNF468_uc002qae.2_5'UTR	p.F17F	NM_001008801	NP_001008801	Q5VIY5	ZN468_HUMAN		GBM - Glioblastoma multiforme(134;0.0358)	3	202	-			17			KRAB.		A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Silent	SNP	ENST00000595646.1	37	c.51C>T	CCDS33094.1																																																																																				0.443	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463098.1		NM_001008801		7	158	0	0	0	0.00308	0	7	158		
ZNF160	90338	broad.mit.edu	37	19	53573254	53573254	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:53573254T>C	ENST00000429604.1	-	7	948	c.533A>G	c.(532-534)aAc>aGc	p.N178S	ZNF160_ENST00000418871.1_Missense_Mutation_p.N178S|ZNF160_ENST00000599056.1_Missense_Mutation_p.N178S|ZNF160_ENST00000601421.1_Missense_Mutation_p.N142S	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	178					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.N178S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		AAGCTGATTGTTCATAAGCTT	0.413																																						uc010eqk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(532-534)AAC>AGC		zinc finger protein 160							240.0	197.0	212.0					19																	53573254		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53573254T>C	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.533A>G	19.37:g.53573254T>C	ENSP00000406201:p.Asn178Ser					ZNF160_uc002qaq.3_Missense_Mutation_p.N178S|ZNF160_uc002qar.3_Missense_Mutation_p.N178S	p.N178S	NM_001102603	NP_001096073	Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	7	949	-			178					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.533A>G	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	T	3.807	-0.040486	0.07497	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.06528	3.29;3.29	2.59	0.262	0.15597	.	.	.	.	.	T	0.02267	0.0070	N	0.03608	-0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47182	-0.9137	9	0.21540	T	0.41	.	2.1745	0.03858	0.2312:0.2835:0.0:0.4853	.	178	Q9HCG1	ZN160_HUMAN	S	178	ENSP00000406201:N178S;ENSP00000409597:N178S	ENSP00000409597:N178S	N	-	2	0	ZNF160	58265066	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.091000	0.11146	-0.154000	0.11118	0.459000	0.35465	AAC		0.413	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2		NM_033288		5	146	0	0	0	0.021553	0	5	146		
CACNG6	59285	broad.mit.edu	37	19	54502980	54502980	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:54502980G>A	ENST00000252729.2	+	3	1089	c.499G>A	c.(499-501)Gca>Aca	p.A167T	CACNG6_ENST00000346968.2_Intron|CACNG6_ENST00000352529.1_Intron	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	167					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.A167T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		CAGTAAAGGTGCAGAGTTCCT	0.592																																						uc002qct.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(499-501)GCA>ACA		voltage-dependent calcium channel gamma-6							219.0	188.0	199.0					19																	54502980		2203	4300	6503	SO:0001583	missense	59285					voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54502980G>A	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.499G>A	19.37:g.54502980G>A	ENSP00000252729:p.Ala167Thr					CACNG6_uc002qcu.2_Intron|CACNG6_uc002qcv.2_Intron	p.A167T	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN		GBM - Glioblastoma multiforme(134;0.168)	3	1089	+	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)		167						Missense_Mutation	SNP	ENST00000252729.2	37	c.499G>A	CCDS12870.1	.	.	.	.	.	.	.	.	.	.	.	14.09	2.430309	0.43122	.	.	ENSG00000130433	ENST00000252729	T	0.69926	-0.44	4.92	4.92	0.64577	.	0.275476	0.29106	N	0.013128	T	0.66117	0.2757	N	0.22421	0.69	0.80722	D	1	D	0.56287	0.975	P	0.59012	0.85	T	0.63120	-0.6708	10	0.28530	T	0.3	-14.0715	14.0252	0.64582	0.0:0.0:1.0:0.0	.	167	Q9BXT2	CCG6_HUMAN	T	167	ENSP00000252729:A167T	ENSP00000252729:A167T	A	+	1	0	CACNG6	59194792	1.000000	0.71417	0.978000	0.43139	0.991000	0.79684	4.265000	0.58865	2.446000	0.82766	0.561000	0.74099	GCA		0.592	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139359.1				6	178	0	0	0	0.021553	0	6	178		
PRPF31	26121	broad.mit.edu	37	19	54632680	54632681	+	Missense_Mutation	DNP	GG	GG	CC			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:54632680_54632681GG>CC	ENST00000321030.4	+	13	1658_1659	c.1309_1310GG>CC	c.(1309-1311)GGg>CCg	p.G437P	PRPF31_ENST00000391755.1_Missense_Mutation_p.G431P|PRPF31_ENST00000419967.1_Missense_Mutation_p.R414P	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	437					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)	p.G437>?(1)|p.G437A(1)|p.G437R(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGTATATGGCGGGAAGTCCACC	0.698											OREG0003636	type=REGULATORY REGION|Gene=AK091105|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002qdh.2		NaN																	3	Substitution - Missense(2)|Complex(1)		urinary_tract(3)	ovary(1)	1						c.(1309-1311)GGG>CCG		pre-mRNA processing factor 31 homolog																																				SO:0001583	missense	26121				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	g.chr19:54632680_54632681GG>CC	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	Exception_encountered	19.37:g.54632680_54632681delinsCC	ENSP00000324122:p.Gly437Pro		OREG0003636	type=REGULATORY REGION|Gene=AK091105|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1001	PRPF31_uc010yek.1_Missense_Mutation_p.R414P	p.G437P	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN			13	1705_1706	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		437					Q17RB4|Q8N7F9|Q9H271|Q9Y439	Missense_Mutation	DNP	ENST00000321030.4	37	c.1309_1310GG>CC	CCDS12879.1																																																																																				0.698	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2				3	11	0	0	0	0.004672	0	3	11		
PTPRH	5794	broad.mit.edu	37	19	55696892	55696892	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:55696892C>T	ENST00000376350.3	-	18	3062	c.3040G>A	c.(3040-3042)Ggc>Agc	p.G1014S	PTPRH_ENST00000263434.5_Missense_Mutation_p.G836S	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1014	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G1014S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ATGGGTGGGCCTCCCTCCATG	0.632																																						uc002qjq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(3040-3042)GGC>AGC		protein tyrosine phosphatase, receptor type, H							47.0	42.0	44.0					19																	55696892		2203	4300	6503	SO:0001583	missense	5794				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:55696892C>T		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.3040G>A	19.37:g.55696892C>T	ENSP00000365528:p.Gly1014Ser					PTPRH_uc010esv.2_Missense_Mutation_p.G836S	p.G1014S	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)	18	3113	-		Renal(1328;0.245)	1014			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	37	c.3040G>A	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.074400	0.55646	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.14640	2.49;2.49	5.21	5.21	0.72293	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.39407	N	0.001377	T	0.34600	0.0903	M	0.66560	2.04	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.77004	0.984;0.989	T	0.02797	-1.1109	10	0.17369	T	0.5	.	17.9621	0.89089	0.0:1.0:0.0:0.0	.	836;1014	C9JCH2;Q9HD43	.;PTPRH_HUMAN	S	1014;836	ENSP00000365528:G1014S;ENSP00000263434:G836S	ENSP00000263434:G836S	G	-	1	0	PTPRH	60388704	0.725000	0.28048	0.215000	0.23724	0.716000	0.41182	3.310000	0.51911	2.626000	0.88956	0.650000	0.86243	GGC		0.632	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1				3	18	0	0	0	0.004672	0	3	18		
HSPBP1	23640	broad.mit.edu	37	19	55776711	55776711	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr19:55776711C>A	ENST00000255631.5	-	8	1250	c.940G>T	c.(940-942)Gaa>Taa	p.E314*	HSPBP1_ENST00000587922.1_Nonsense_Mutation_p.E314*|HSPBP1_ENST00000376343.3_Nonsense_Mutation_p.E212*|HSPBP1_ENST00000433386.2_Nonsense_Mutation_p.E314*	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	317					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)	p.E314*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		AGGCCCAGTTCCGGCTCCCGA	0.647																																						uc002qjx.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(1078-1080)GAA>TAA		hsp70-interacting protein							78.0	73.0	75.0					19																	55776711		2203	4299	6502	SO:0001587	stop_gained	23640				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	g.chr19:55776711C>A		CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.940G>T	19.37:g.55776711C>A	ENSP00000255631:p.Glu314*					HSPBP1_uc002qjy.2_Nonsense_Mutation_p.E314*|HSPBP1_uc002qkb.2_Missense_Mutation_p.G310V|HSPBP1_uc002qka.2_Nonsense_Mutation_p.E314*|HSPBP1_uc002qkd.2_Nonsense_Mutation_p.E314*|HSPBP1_uc002qkc.2_Nonsense_Mutation_p.E314*|uc002qke.2_5'Flank	p.E360*	NM_012267	NP_036399	Q9NZL4	HPBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	6	1188	-			317					B3KQP0|B4DG11|O95351|Q6ZNU5	Nonsense_Mutation	SNP	ENST00000255631.5	37	c.1078G>T	CCDS33111.1	.	.	.	.	.	.	.	.	.	.	c	27.3	4.818754	0.90790	.	.	ENSG00000133265	ENST00000433386;ENST00000255631;ENST00000376343	.	.	.	4.23	3.16	0.36331	.	0.125573	0.51477	D	0.000085	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	12.9989	0.58664	0.0:0.8244:0.1756:0.0	.	.	.	.	X	314;314;212	.	ENSP00000255631:E314X	E	-	1	0	HSPBP1	60468523	0.843000	0.29541	0.793000	0.32043	0.562000	0.35680	1.955000	0.40372	0.894000	0.36317	0.379000	0.24179	GAA		0.647	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1		NM_012267		7	93	1	0	0.000157383	0.00308	0.000167958	7	93		
APOB	338	broad.mit.edu	37	2	21228278	21228278	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:21228278G>C	ENST00000233242.1	-	26	11589	c.11462C>G	c.(11461-11463)aCt>aGt	p.T3821S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3821					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.T3821S(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGACACAGTTAACTGAGA	0.423																																						uc002red.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(11461-11463)ACT>AGT		apolipoprotein B precursor	Atorvastatin(DB01076)						162.0	156.0	158.0					2																	21228278		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21228278G>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.11462C>G	2.37:g.21228278G>C	ENSP00000233242:p.Thr3821Ser						p.T3821S	NM_000384	NP_000375	P04114	APOB_HUMAN			26	11590	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		3821					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.11462C>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.282840	0.40394	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01172	5.23	5.62	2.87	0.33458	.	0.209177	0.33092	N	0.005296	T	0.03827	0.0108	M	0.64997	1.995	0.80722	D	1	D	0.69078	0.997	D	0.67725	0.953	T	0.45687	-0.9244	10	0.59425	D	0.04	.	6.2042	0.20593	0.0908:0.1169:0.6717:0.1206	.	3821	P04114	APOB_HUMAN	S	3821	ENSP00000233242:T3821S	ENSP00000233242:T3821S	T	-	2	0	APOB	21081783	0.927000	0.31430	0.998000	0.56505	0.988000	0.76386	1.332000	0.33805	0.336000	0.23639	-0.122000	0.15005	ACT		0.423	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1				4	167	0	0	0	0.014758	0	4	167		
APOB	338	broad.mit.edu	37	2	21249677	21249677	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:21249677C>T	ENST00000233242.1	-	15	2354	c.2227G>A	c.(2227-2229)Gat>Aat	p.D743N	APOB_ENST00000399256.4_Missense_Mutation_p.D743N	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	743					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.D743N(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTTTATCATCTTTGGTATAG	0.393																																						uc002red.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(2227-2229)GAT>AAT		apolipoprotein B precursor	Atorvastatin(DB01076)						132.0	130.0	131.0					2																	21249677		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21249677C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2227G>A	2.37:g.21249677C>T	ENSP00000233242:p.Asp743Asn						p.D743N	NM_000384	NP_000375	P04114	APOB_HUMAN			15	2355	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		743					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.2227G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.662211	0.29515	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.17054	2.3;2.3	5.59	3.81	0.43845	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);	0.482604	0.20504	N	0.091039	T	0.20007	0.0481	M	0.76838	2.35	0.09310	N	1	B	0.18461	0.028	B	0.19946	0.027	T	0.21042	-1.0257	10	0.25106	T	0.35	.	7.7598	0.28946	0.0:0.7247:0.1338:0.1415	.	743	P04114	APOB_HUMAN	N	743	ENSP00000233242:D743N;ENSP00000382200:D743N	ENSP00000233242:D743N	D	-	1	0	APOB	21103182	0.060000	0.20803	0.103000	0.21229	0.498000	0.33706	0.326000	0.19646	0.858000	0.35431	0.650000	0.86243	GAT		0.393	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1				7	93	0	0	0	0.02938	0	7	93		
SMYD1	150572	broad.mit.edu	37	2	88387407	88387407	+	Missense_Mutation	SNP	T	T	G	rs530943158	byFrequency	TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:88387407T>G	ENST00000419482.2	+	3	426	c.341T>G	c.(340-342)gTg>gGg	p.V114G	SMYD1_ENST00000468008.1_3'UTR|SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.V114G	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	114	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.V114G(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						ATGTGGCGGGTGGAGAGAGAA	0.612													T|||	182	0.0363419	0.1006	0.0259	5008	,	,		15470	0.004		0.0119	False		,,,				2504	0.0153					uc002ssr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)|skin(1)	4						c.(340-342)GTG>GGG		SET and MYND domain containing 1							43.0	39.0	40.0					2																	88387407		2202	4300	6502	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88387407T>G	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.341T>G	2.37:g.88387407T>G	ENSP00000393453:p.Val114Gly					SMYD1_uc002ssq.1_Intron	p.V114G	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN			3	343	+			114					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.341T>G	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.609633	0.87258	.	.	ENSG00000115593	ENST00000419482;ENST00000444564	T;T	0.14022	2.54;2.54	4.82	4.82	0.62117	SET domain (2);	0.223458	0.44688	D	0.000422	T	0.14917	0.0360	N	0.08118	0	0.80722	D	1	D	0.56746	0.977	P	0.56398	0.797	T	0.16808	-1.0390	10	0.72032	D	0.01	-24.9689	13.8424	0.63446	0.0:0.0:0.0:1.0	.	114	Q8NB12	SMYD1_HUMAN	G	114	ENSP00000393453:V114G;ENSP00000407888:V114G	ENSP00000393453:V114G	V	+	2	0	SMYD1	88168522	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.601000	0.82783	1.914000	0.55421	0.459000	0.35465	GTG		0.612	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2		XM_097915		3	3	0	0	0	0.021553	0	3	3		
DARS	1615	broad.mit.edu	37	2	136673932	136673932	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:136673932C>T	ENST00000264161.4	-	11	1185	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	DARS_ENST00000537273.1_Missense_Mutation_p.E224K	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	324					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.E324K(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	GTTTGAATTTCAGTCTGAAAC	0.348																																						uc002tux.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(970-972)GAA>AAA		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						109.0	109.0	109.0					2																	136673932		2203	4300	6503	SO:0001583	missense	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136673932C>T	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.970G>A	2.37:g.136673932C>T	ENSP00000264161:p.Glu324Lys					DARS_uc010fnj.1_Missense_Mutation_p.E224K	p.E324K	NM_001349	NP_001340	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	11	1154	-			324					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Missense_Mutation	SNP	ENST00000264161.4	37	c.970G>A	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112277	0.94339	.	.	ENSG00000115866	ENST00000264161;ENST00000422708;ENST00000537273	T;D;T	0.84660	0.92;-1.88;0.92	5.58	5.58	0.84498	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.000000	0.85682	D	0.000000	D	0.93848	0.8032	M	0.90814	3.15	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	D	0.94426	0.7645	10	0.87932	D	0	-22.9355	19.9414	0.97163	0.0:1.0:0.0:0.0	.	324	P14868	SYDC_HUMAN	K	324;38;224	ENSP00000264161:E324K;ENSP00000387508:E38K;ENSP00000444192:E224K	ENSP00000264161:E324K	E	-	1	0	DARS	136390402	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.584000	0.82572	2.779000	0.95612	0.650000	0.86243	GAA		0.348	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5		NM_001349		7	87	0	0	0	0.00308	0	7	87		
THSD7B	80731	broad.mit.edu	37	2	138320875	138320875	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:138320875G>C	ENST00000409968.1	+	16	3401	c.3223G>C	c.(3223-3225)Gag>Cag	p.E1075Q	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.E1078Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.E1047Q			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1077	TSP type-1 13. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.E1078Q(1)|p.E1047Q(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATCAACAATGAGCTGAGGTC	0.453																																						uc002tva.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(3136-3138)GAG>CAG		thrombospondin, type I, domain containing 7B							108.0	102.0	104.0					2																	138320875		1970	4151	6121	SO:0001583	missense	80731							g.chr2:138320875G>C			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3223G>C	2.37:g.138320875G>C	ENSP00000387145:p.Glu1075Gln					THSD7B_uc010zbj.1_Intron	p.E1046Q	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	15	3136	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.3136G>C		.	.	.	.	.	.	.	.	.	.	G	20.1	3.938814	0.73557	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.23754	2.42;2.26;1.89	5.41	5.41	0.78517	.	0.110518	0.64402	D	0.000008	T	0.38321	0.1036	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.66196	0.942	T	0.02868	-1.1100	10	0.14252	T	0.57	.	19.6154	0.95632	0.0:0.0:1.0:0.0	.	1047	C9JKN6	.	Q	1075;1078;1047	ENSP00000387145:E1075Q;ENSP00000272643:E1078Q;ENSP00000413841:E1047Q	ENSP00000272643:E1078Q	E	+	1	0	THSD7B	138037345	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.225000	0.78051	2.712000	0.92718	0.585000	0.79938	GAG		0.453	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2		XM_046570.9		4	24	0	0	0	0.009096	0	4	24		
ZEB2	9839	broad.mit.edu	37	2	145147516	145147516	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:145147516G>A	ENST00000558170.2	-	10	4331	c.3147C>T	c.(3145-3147)caC>caT	p.H1049H	ZEB2_ENST00000303660.4_Silent_p.H1049H|ZEB2_ENST00000539609.3_Silent_p.H1025H|ZEB2_ENST00000409487.3_Silent_p.H1049H	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1049					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.H1049H(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCTCGCCCGAGTGAAGCCTTG	0.478																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(3145-3147)CAC>CAT		zinc finger homeobox 1b							57.0	56.0	56.0					2																	145147516		2203	4300	6503	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145147516G>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.3147C>T	2.37:g.145147516G>A						ZEB2_uc002tvv.2_Silent_p.H1043H|ZEB2_uc010zbm.1_Silent_p.H1020H|ZEB2_uc010fnp.2_Intron	p.H1049H	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	10	3627	-			1049			C2H2-type 6.		A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.3147C>T	CCDS2186.1																																																																																				0.478	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5		NM_014795		8	49	0	0	0	0.00308	0	8	49		
KCNH7	90134	broad.mit.edu	37	2	163236421	163236421	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:163236421C>G	ENST00000332142.5	-	14	3172	c.3073G>C	c.(3073-3075)Gac>Cac	p.D1025H		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1025					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)	p.D1025H(1)		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)	TAGGTGAGGTCGCTTTCGGTT	0.517																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)	5						c.(3073-3075)GAC>CAC		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						191.0	179.0	183.0					2																	163236421		2203	4300	6503	SO:0001583	missense	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163236421C>G	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.3073G>C	2.37:g.163236421C>G	ENSP00000331727:p.Asp1025His						p.D1025H	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			14	3285	-			1025			Cytoplasmic (Potential).		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	ENST00000332142.5	37	c.3073G>C	CCDS2219.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732359	0.89482	.	.	ENSG00000184611	ENST00000332142	D	0.88201	-2.35	5.97	5.97	0.96955	.	0.044534	0.85682	D	0.000000	D	0.89511	0.6736	N	0.24115	0.695	0.80722	D	1	D	0.59767	0.986	P	0.57283	0.817	D	0.88900	0.3352	10	0.42905	T	0.14	.	20.4135	0.99023	0.0:1.0:0.0:0.0	.	1025	Q9NS40	KCNH7_HUMAN	H	1025	ENSP00000331727:D1025H	ENSP00000331727:D1025H	D	-	1	0	KCNH7	162944667	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.525000	0.73795	2.835000	0.97688	0.591000	0.81541	GAC		0.517	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1		NM_033272		12	154	0	0	0	0.013537	0	12	154		
LRP2	4036	broad.mit.edu	37	2	170009322	170009322	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:170009322C>A	ENST00000263816.3	-	67	12733	c.12448G>T	c.(12448-12450)Gac>Tac	p.D4150Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4150					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.D4150Y(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCAACCCAGTCCACTGCTATT	0.478																																						uc002ues.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(12448-12450)GAC>TAC		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						190.0	176.0	181.0					2																	170009322		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170009322C>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12448G>T	2.37:g.170009322C>A	ENSP00000263816:p.Asp4150Tyr						p.D4150Y	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	67	12661	-			4150			Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.12448G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833210	0.91036	.	.	ENSG00000081479	ENST00000263816	D	0.94723	-3.5	5.59	5.59	0.84812	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	M	0.89414	3.03	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.98093	1.0410	10	0.87932	D	0	.	19.9507	0.97198	0.0:1.0:0.0:0.0	.	4150	P98164	LRP2_HUMAN	Y	4150	ENSP00000263816:D4150Y	ENSP00000263816:D4150Y	D	-	1	0	LRP2	169717568	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.772000	0.85439	2.763000	0.94921	0.655000	0.94253	GAC		0.478	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2		NM_004525		13	137	1	0	0.00010058	0.013537	0.000108194	13	137		
HNRNPA3	220988	broad.mit.edu	37	2	178082493	178082493	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:178082493C>T	ENST00000392524.2	+	8	1118	c.881C>T	c.(880-882)cCa>cTa	p.P294L	HNRNPA3_ENST00000435711.1_Missense_Mutation_p.P294L|HNRNPA3_ENST00000411529.2_Missense_Mutation_p.P272L			P51991	ROA3_HUMAN	heterogeneous nuclear ribonucleoprotein A3	294	Gly-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P294L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|urinary_tract(1)	16						GGTGGTGGACCAGGATATGGA	0.438																																						uc002ulb.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(880-882)CCA>CTA		heterogeneous nuclear ribonucleoprotein A3							166.0	157.0	160.0					2																	178082493		2203	4297	6500	SO:0001583	missense	220988					catalytic step 2 spliceosome|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:178082493C>T	AF517524	CCDS2273.1	2q31.2	2013-02-12		2008-04-18	ENSG00000170144	ENSG00000170144		"""RNA binding motif (RRM) containing"""	24941	protein-coding gene	gene with protein product		605372		HNRPA3		11886857, 15776420	Standard	XM_005246380		Approved		uc002ulc.1	P51991	OTTHUMG00000132529	ENST00000392524.2:c.881C>T	2.37:g.178082493C>T	ENSP00000376309:p.Pro294Leu					HNRNPA3_uc002ulc.1_Missense_Mutation_p.P294L|HNRNPA3_uc002uld.2_Missense_Mutation_p.P272L|HNRNPA3_uc002ule.2_Missense_Mutation_p.P71L	p.P294L	NM_194247	NP_919223	P51991	ROA3_HUMAN			8	987	+			294			Gly-rich.		D3DPF4|Q53RW7|Q6URK5	Missense_Mutation	SNP	ENST00000392524.2	37	c.881C>T	CCDS2273.1	.	.	.	.	.	.	.	.	.	.	c	19.27	3.796137	0.70567	.	.	ENSG00000170144	ENST00000392524;ENST00000411529;ENST00000416446;ENST00000420139;ENST00000435711	D;D;D	0.85484	-1.99;-1.99;-1.99	4.42	4.42	0.53409	.	0.000000	0.41097	U	0.000949	D	0.91499	0.7316	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.91873	0.5509	10	0.49607	T	0.09	.	17.4329	0.87544	0.0:1.0:0.0:0.0	.	272;294	B4DDB6;P51991	.;ROA3_HUMAN	L	294;272;238;239;294	ENSP00000376309:P294L;ENSP00000408487:P272L;ENSP00000416340:P294L	ENSP00000376309:P294L	P	+	2	0	HNRNPA3	177790739	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.665000	0.61547	2.215000	0.71742	0.472000	0.43445	CCA		0.438	HNRNPA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255729.3		NM_194247		10	120	0	0	0	0.006214	0	10	120		
CASP8	841	broad.mit.edu	37	2	202131238	202131238	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:202131238T>C	ENST00000432109.2	+	3	218	c.29T>C	c.(28-30)aTt>aCt	p.I10T	CASP8_ENST00000392258.3_Missense_Mutation_p.I10T|CASP8_ENST00000392266.3_Missense_Mutation_p.I10T|CASP8_ENST00000264274.9_Missense_Mutation_p.I10T|CASP8_ENST00000323492.7_Missense_Mutation_p.I10T|CASP8_ENST00000392259.2_Missense_Mutation_p.I10T|CASP8_ENST00000264275.5_Missense_Mutation_p.I10T|CASP8_ENST00000358485.4_Missense_Mutation_p.I69T	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	10	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.I10T(2)|p.I69T(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTTTATGATATTGGGGAACAA	0.408										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(28-30)ATT>ACT		caspase 8 isoform B precursor							66.0	70.0	69.0					2																	202131238		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202131238T>C	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.29T>C	2.37:g.202131238T>C	ENSP00000412523:p.Ile10Thr	HNSCC(4;0.00038)				CASP8_uc010ftc.1_Missense_Mutation_p.I10T|CASP8_uc002uxo.1_Missense_Mutation_p.I10T|CASP8_uc002uxp.1_Missense_Mutation_p.I10T|CASP8_uc002uxq.1_Missense_Mutation_p.I10T|CASP8_uc002uxs.1_Missense_Mutation_p.I10T|CASP8_uc002uxt.1_Missense_Mutation_p.I69T|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.I10T|CASP8_uc002uxw.1_Missense_Mutation_p.I10T|CASP8_uc002uxy.1_Missense_Mutation_p.I10T|CASP8_uc002uxx.1_Missense_Mutation_p.I10T|CASP8_uc010ftf.2_Missense_Mutation_p.I10T	p.I10T	NM_033355	NP_203519	Q14790	CASP8_HUMAN			3	238	+			10			DED 1.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.29T>C	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	T	13.45	2.242139	0.39598	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	5.46	5.46	0.80206	DEATH-like (2);Death effector (3);	0.169500	0.52532	D	0.000075	D	0.95214	0.8448	H	0.94264	3.515	0.28067	N	0.932738	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.996;0.997;0.995;0.997;0.988;0.999;0.995;0.983;0.988	D	0.91468	0.5194	10	0.87932	D	0	.	14.7119	0.69238	0.0:0.0:0.0:1.0	.	10;10;10;10;69;10;10;10;10	Q14790-3;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;CASP8_HUMAN;.;.;.	T	10;10;10;10;10;10;10;10;10;69;10;10;10;10	ENSP00000376091:I10T;ENSP00000264274:I10T;ENSP00000376088:I10T;ENSP00000376094:I10T;ENSP00000412523:I10T;ENSP00000264275:I10T;ENSP00000396869:I10T;ENSP00000376087:I10T;ENSP00000388306:I10T;ENSP00000351273:I69T;ENSP00000397528:I10T;ENSP00000325722:I10T;ENSP00000390641:I10T	ENSP00000264274:I10T	I	+	2	0	CASP8	201839483	1.000000	0.71417	0.085000	0.20634	0.005000	0.04900	5.243000	0.65395	2.047000	0.60756	0.533000	0.62120	ATT		0.408	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2		NM_001228		6	60	0	0	0	0.02938	0	6	60		
SCLY	51540	broad.mit.edu	37	2	238999877	238999877	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:238999877G>A	ENST00000555827.1	+	8	967	c.903G>A	c.(901-903)atG>atA	p.M301I	SCLY_ENST00000422984.2_Missense_Mutation_p.M207I|SCLY_ENST00000409736.2_Missense_Mutation_p.M301I|SCLY_ENST00000373332.3_Missense_Mutation_p.M219I|SCLY_ENST00000429612.2_Intron|SCLY_ENST00000254663.6_Missense_Mutation_p.M309I			Q96I15	SCLY_HUMAN	selenocysteine lyase	301					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)	pyridoxal phosphate binding (GO:0030170)|selenocysteine lyase activity (GO:0009000)|transferase activity (GO:0016740)	p.M301I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		ACACCCCAATGATTGCTGGCC	0.463																																					Melanoma(24;424 891 11947 32582 36034)|Ovarian(46;648 1065 26199 32764 45893)	uc010fyv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(901-903)ATG>ATA		selenocysteine lyase							253.0	237.0	242.0					2																	238999877		2203	4300	6503	SO:0001583	missense	51540				cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity	g.chr2:238999877G>A	AF175767	CCDS2524.1, CCDS2524.2	2q37.3	2008-02-05			ENSG00000132330	ENSG00000132330			18161	protein-coding gene	gene with protein product	"""putative selenocysteine lyase"""	611056				10692412	Standard	NM_016510		Approved	SCL	uc010fyv.4	Q96I15	OTTHUMG00000133336	ENST00000555827.1:c.903G>A	2.37:g.238999877G>A	ENSP00000450613:p.Met301Ile					SCLY_uc002vxm.3_Missense_Mutation_p.M268I|SCLY_uc002vxn.2_Missense_Mutation_p.M301I|SCLY_uc010znq.1_Intron|SCLY_uc010znr.1_Missense_Mutation_p.M207I	p.M301I	NM_016510	NP_057594	Q96I15	SCLY_HUMAN		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)	8	967	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	301					B9A068|J3KN06|Q53SN1|Q53SN8|Q7L670|Q9NVT7|Q9NZR7	Missense_Mutation	SNP	ENST00000555827.1	37	c.903G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.880124|4.880124	0.91740|0.91740	.|.	.|.	ENSG00000132330|ENSG00000132330	ENST00000437134|ENST00000254663;ENST00000555827;ENST00000373332;ENST00000409736;ENST00000422984;ENST00000450965	.|D;D;D;D;D;D	.|0.86432	.|-2.12;-2.12;-2.12;-2.12;-2.12;-2.12	5.48|5.48	5.48|5.48	0.80851|0.80851	.|Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93035|0.93035	0.7783|0.7783	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.56521	.|0.976;0.976;0.94	.|D;D;P	.|0.66847	.|0.947;0.913;0.605	D|D	0.92016|0.92016	0.5622|0.5622	5|10	.|0.37606	.|T	.|0.19	-12.7487|-12.7487	18.1428|18.1428	0.89646|0.89646	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|207;301;301	.|E7ESG3;Q96I15;Q96I15-2	.|.;SCLY_HUMAN;.	N|I	145|309;301;219;301;207;131	.|ENSP00000254663:M309I;ENSP00000450613:M301I;ENSP00000362429:M219I;ENSP00000387162:M301I;ENSP00000416865:M207I;ENSP00000414053:M131I	.|ENSP00000254663:M301I	D|M	+|+	1|3	0|0	SCLY|SCLY	238664616|238664616	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	9.396000|9.396000	0.97270|0.97270	2.575000|2.575000	0.86900|0.86900	0.655000|0.655000	0.94253|0.94253	GAT|ATG		0.463	SCLY-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_016510		10	111	0	0	0	0.024245	0	10	111		
PDYN	5173	broad.mit.edu	37	20	1961214	1961214	+	Missense_Mutation	SNP	G	G	A	rs567558964	byFrequency	TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr20:1961214G>A	ENST00000217305.2	-	4	745	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C	PDYN_ENST00000540134.1_Missense_Mutation_p.R174C|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.R174C	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	174					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.R174C(2)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCCCATAGCGTTTGACCTGC	0.582													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17337	0.0		0.0	False		,,,				2504	0.0					uc010gaj.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|prostate(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(520-522)CGC>TGC		beta-neoendorphin-dynorphin preproprotein							105.0	105.0	105.0					20																	1961214		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961214G>A		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.520C>T	20.37:g.1961214G>A	ENSP00000217305:p.Arg174Cys					uc002wfu.1_Intron|PDYN_uc002wfv.2_Missense_Mutation_p.R174C|PDYN_uc010zpt.1_Missense_Mutation_p.R19C	p.R174C	NM_024411	NP_077722	P01213	PDYN_HUMAN			3	762	-			174					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.520C>T	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.109941	0.77210	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.89196	-2.48;-2.48;-2.48	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.94709	0.8293	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94941	0.8091	10	0.87932	D	0	-18.3393	10.5532	0.45101	0.0:0.0:0.8074:0.1926	.	174	P01213	PDYN_HUMAN	C	174	ENSP00000440185:R174C;ENSP00000442259:R174C;ENSP00000217305:R174C	ENSP00000217305:R174C	R	-	1	0	PDYN	1909214	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.777000	0.68931	2.531000	0.85337	0.491000	0.48974	CGC		0.582	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2				6	81	0	0	0	0.021553	0	6	81		
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						uc002xav.2		NaN																	15	Substitution - coding silent(15)		lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(805-807)CAG>CAA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_uc002xaw.2_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	p.Q269Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			8	3378	-			269			TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2		NM_014071		3	18	0	0	0	0.004672	0	3	18		
ZHX3	23051	broad.mit.edu	37	20	39832810	39832810	+	Missense_Mutation	SNP	G	G	T	rs201454849		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr20:39832810G>T	ENST00000309060.3	-	4	1162	c.747C>A	c.(745-747)aaC>aaA	p.N249K	ZHX3_ENST00000544979.2_Missense_Mutation_p.N249K|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.N249K|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000559234.1_Missense_Mutation_p.N249K|ZHX3_ENST00000540170.1_Missense_Mutation_p.N249K|ZHX3_ENST00000560361.1_Missense_Mutation_p.N249K			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	249	Required for homodimerization and interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.N249K(1)		endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				CGGCATGGGGGTTTTTTGCAG	0.587													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18935	0.0		0.0	False		,,,				2504	0.0					uc002xjs.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(745-747)AAC>AAA		zinc fingers and homeoboxes 3							67.0	65.0	66.0					20																	39832810		2203	4300	6503	SO:0001583	missense	23051				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:39832810G>T	AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.747C>A	20.37:g.39832810G>T	ENSP00000312222:p.Asn249Lys					ZHX3_uc002xjq.1_Intron|ZHX3_uc002xjr.1_Missense_Mutation_p.N249K|ZHX3_uc002xjt.1_Missense_Mutation_p.N249K|ZHX3_uc002xju.1_Missense_Mutation_p.N249K|ZHX3_uc002xjv.1_Missense_Mutation_p.N249K|ZHX3_uc002xjw.1_Missense_Mutation_p.N249K|ZHX3_uc010ggg.1_Missense_Mutation_p.N249K	p.N249K	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN			3	1125	-		Myeloproliferative disorder(115;0.00425)	249			Required for homodimerization and interaction with NFYA.		E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	ENST00000309060.3	37	c.747C>A	CCDS13315.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	0.019	-1.450125	0.01080	.	.	ENSG00000174306	ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768	T;T;T;T;T	0.29397	1.57;2.99;2.99;2.77;1.57	6.07	-10.8	0.00216	.	1.996060	0.02067	N	0.051251	T	0.10723	0.0262	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.21415	-1.0246	10	0.08599	T	0.76	-0.0048	1.3197	0.02114	0.2771:0.217:0.0942:0.4116	.	249;249;249	A8K8Q0;Q9H4I2;F5H820	.;ZHX3_HUMAN;.	K	249;249;249;249;27;249	ENSP00000312222:N249K;ENSP00000362360:N249K;ENSP00000442290:N249K;ENSP00000443783:N249K;ENSP00000415498:N249K	ENSP00000312222:N249K	N	-	3	2	ZHX3	39266224	0.023000	0.18921	0.000000	0.03702	0.011000	0.07611	-0.356000	0.07661	-1.487000	0.01849	-0.182000	0.12963	AAC		0.587	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079262.3		NM_015035		6	68	1	0	0.00116845	0.021553	0.00121807	6	68		
TSHZ2	128553	broad.mit.edu	37	20	51870547	51870547	+	Missense_Mutation	SNP	C	C	T	rs373234486		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr20:51870547C>T	ENST00000371497.5	+	2	1437	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.R181W|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R181W	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	184					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R184W(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTTGCCTTCTCGGTCCGTCTC	0.552																																						uc002xwo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(550-552)CGG>TGG		teashirt zinc finger homeobox 2		A	TRP/ARG,TRP/ARG	1,4405		0,1,2202	70.0	69.0	69.0		541,550	-0.2	0.0	20		69	0,8600		0,0,4300	no	missense,missense	TSHZ2	NM_001193421.1,NM_173485.5	101,101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	181/1032,184/1035	51870547	1,13005	2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51870547C>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.550C>T	20.37:g.51870547C>T	ENSP00000360552:p.Arg184Trp						p.R184W	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	1506	+			184					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.550C>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.410567	0.62399	2.27E-4	0.0	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.15487	2.42;2.42	5.5	-0.244	0.13031	.	0.052007	0.85682	D	0.000000	T	0.30355	0.0762	L	0.53249	1.67	0.09310	N	0.999999	D	0.76494	0.999	P	0.56434	0.798	T	0.37686	-0.9695	10	0.72032	D	0.01	-19.9567	17.9089	0.88928	0.3435:0.6565:0.0:0.0	.	184	Q9NRE2	TSH2_HUMAN	W	184;181	ENSP00000360552:R184W;ENSP00000333114:R181W	ENSP00000333114:R181W	R	+	1	2	TSHZ2	51303954	0.435000	0.25577	0.001000	0.08648	0.048000	0.14542	1.251000	0.32862	-0.732000	0.04856	-1.443000	0.01068	CGG		0.552	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6		NM_173485		4	41	0	0	0	0.009096	0	4	41		
IL10RB	3588	broad.mit.edu	37	21	34648997	34648997	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr21:34648997G>A	ENST00000290200.2	+	3	378	c.270G>A	c.(268-270)agG>agA	p.R90R	AP000295.9_ENST00000433395.2_Missense_Mutation_p.G218E	NM_000628.4	NP_000619.3	Q08334	I10R2_HUMAN	interleukin 10 receptor, beta	90	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R90R(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TGAGAGTCAGGGCTGAATTTG	0.398																																					Melanoma(67;315 1275 21667 21943 44564)	uc002yrk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(268-270)AGG>AGA		interleukin 10 receptor, beta precursor							246.0	209.0	222.0					21																	34648997		2203	4300	6503	SO:0001819	synonymous_variant	3588				immune response|inflammatory response	interleukin-28 receptor complex	protein binding|receptor activity	g.chr21:34648997G>A	U08988	CCDS13623.1	21q22.11	2014-09-17			ENSG00000243646	ENSG00000243646		"""Interleukins and interleukin receptors"", ""CD molecules"""	5965	protein-coding gene	gene with protein product		123889		CRFB4, D21S58, D21S66		8314576, 9312047	Standard	NM_000628		Approved	CRF2-4, CDW210B, IL-10R2		Q08334	OTTHUMG00000065128	ENST00000290200.2:c.270G>A	21.37:g.34648997G>A						IL10RB_uc002yrh.1_Silent_p.R160R|IL10RB_uc002yri.1_Silent_p.R43R|IL10RB_uc002yrl.1_Silent_p.R92R	p.R90R	NM_000628	NP_000619	Q08334	I10R2_HUMAN			3	369	+			90			Extracellular (Potential).		Q9BUU4	Silent	SNP	ENST00000290200.2	37	c.270G>A	CCDS13623.1	.	.	.	.	.	.	.	.	.	.	G	10.97	1.502069	0.26949	.	.	ENSG00000249624	ENST00000433395	.	.	.	5.73	2.71	0.32032	.	.	.	.	.	T	0.55065	0.1897	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45026	-0.9289	4	.	.	.	-30.8115	6.9849	0.24723	0.3212:0.0:0.6788:0.0	.	.	.	.	E	218	.	.	G	+	2	0	AP000295.9	33570867	0.606000	0.26949	0.948000	0.38648	0.992000	0.81027	0.330000	0.19715	0.333000	0.23563	-0.345000	0.07892	GGG		0.398	IL10RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139831.3				11	148	0	0	0	0.010729	0	11	148		
KCNJ15	3772	broad.mit.edu	37	21	39671406	39671406	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr21:39671406G>A	ENST00000328656.4	+	4	526	c.223G>A	c.(223-225)Gtg>Atg	p.V75M	KCNJ15_ENST00000398932.1_Missense_Mutation_p.V75M|KCNJ15_ENST00000398930.1_Missense_Mutation_p.V75M|KCNJ15_ENST00000398934.1_Missense_Mutation_p.V75M|KCNJ15_ENST00000398938.2_Missense_Mutation_p.V75M	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	75					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.V75M(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	TGCCACTTTTGTGATGACCTG	0.473																																						uc002ywv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	6						c.(223-225)GTG>ATG		potassium inwardly-rectifying channel J15							150.0	127.0	135.0					21																	39671406		2203	4300	6503	SO:0001583	missense	3772				synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity	g.chr21:39671406G>A	Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.223G>A	21.37:g.39671406G>A	ENSP00000331698:p.Val75Met					KCNJ15_uc002yww.2_Missense_Mutation_p.V75M|KCNJ15_uc002ywx.2_Missense_Mutation_p.V75M	p.V75M	NM_002243	NP_002234	Q99712	IRK15_HUMAN			4	525	+			75			Helical; Name=M1; (By similarity).		D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	c.223G>A	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.045849	0.55110	.	.	ENSG00000157551	ENST00000328656;ENST00000398928;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927;ENST00000419868	D;D;D;D;D;D;D;D;D	0.96300	-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97;-3.97	4.87	4.87	0.63330	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.070917	0.56097	U	0.000032	D	0.96367	0.8815	M	0.65320	2	0.40040	D	0.975646	D	0.52996	0.957	P	0.58454	0.839	D	0.95422	0.8508	9	.	.	.	.	7.9671	0.30104	0.0812:0.0:0.759:0.1598	.	75	Q99712	IRK15_HUMAN	M	75	ENSP00000331698:V75M;ENSP00000381902:V75M;ENSP00000381911:V75M;ENSP00000381905:V75M;ENSP00000414487:V75M;ENSP00000381904:V75M;ENSP00000381907:V75M;ENSP00000381901:V75M;ENSP00000400849:V75M	.	V	+	1	0	KCNJ15	38593276	0.970000	0.33590	0.943000	0.38184	0.908000	0.53690	1.880000	0.39628	2.421000	0.82119	0.467000	0.42956	GTG		0.473	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2		NM_002243		7	88	0	0	0	0.00308	0	7	88		
ERG	2078	broad.mit.edu	37	21	39755633	39755633	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr21:39755633T>C	ENST00000417133.2	-	12	1338	c.1153A>G	c.(1153-1155)Atg>Gtg	p.M385V	ERG_ENST00000398910.1_Missense_Mutation_p.M362V|ERG_ENST00000442448.1_Missense_Mutation_p.M361V|ERG_ENST00000288319.7_Missense_Mutation_p.M378V|ERG_ENST00000453032.2_Missense_Mutation_p.M286V|ERG_ENST00000398911.1_Missense_Mutation_p.M361V|ERG_ENST00000398905.1_Missense_Mutation_p.M354V|ERG_ENST00000398897.1_Missense_Mutation_p.M262V|ERG_ENST00000398907.1_Missense_Mutation_p.M355V|ERG_ENST00000398919.2_Missense_Mutation_p.M385V	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.M385V(1)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	ACCTTGGTCATGATGTTCTTG	0.592			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	uc010gnw.2		NaN		Dom	yes		21	21q22.3	2078		v-ets erythroblastosis virus E26 oncogene like (avian)			"""M, E, L"""				TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162)	1	Substitution - Missense(1)		urinary_tract(1)	prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1)	2828						c.(1153-1155)ATG>GTG		ets-related isoform 4							134.0	113.0	120.0					21																	39755633		2203	4300	6503	SO:0001583	missense	2078				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:39755633T>C		CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1153A>G	21.37:g.39755633T>C	ENSP00000414150:p.Met385Val					ERG_uc002yxa.2_Missense_Mutation_p.M378V|ERG_uc011aek.1_Missense_Mutation_p.M286V|ERG_uc010gnv.2_Missense_Mutation_p.M262V|ERG_uc010gnx.2_Missense_Mutation_p.M361V|ERG_uc011ael.1_Missense_Mutation_p.M385V|ERG_uc002yxb.2_Missense_Mutation_p.M361V	p.M385V	NM_001136155	NP_001129627	P11308	ERG_HUMAN			12	1448	-		Prostate(19;3.6e-06)	385			ETS.		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000417133.2	37	c.1153A>G	CCDS46648.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.012112	0.75046	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5;0.5	5.2	5.2	0.72013	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.72045	0.3412	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.69078	0.995;0.983;0.993;0.997	D;D;D;D	0.76575	0.988;0.962;0.98;0.959	T	0.76342	-0.2994	10	0.87932	D	0	.	15.0919	0.72201	0.0:0.0:0.0:1.0	.	385;354;361;378	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	V	354;355;378;262;361;385;362;361;286;385	ENSP00000381877:M354V;ENSP00000381879:M355V;ENSP00000288319:M378V;ENSP00000381871:M262V;ENSP00000381882:M361V;ENSP00000414150:M385V;ENSP00000381881:M362V;ENSP00000394694:M361V;ENSP00000396268:M286V;ENSP00000381891:M385V	ENSP00000288319:M378V	M	-	1	0	ERG	38677503	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.040000	0.89188	1.949000	0.56562	0.533000	0.62120	ATG		0.592	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207532.2		NM_182918		10	85	0	0	0	0.008291	0	10	85		
GAB4	128954	broad.mit.edu	37	22	17447085	17447085	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:17447085G>C	ENST00000400588.1	-	6	1300	c.1193C>G	c.(1192-1194)tCc>tGc	p.S398C	GAB4_ENST00000523144.1_5'Flank	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	398								p.S398C(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGTGAGTGGGGAGCCAAGCAG	0.592																																						uc002zlw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)	2						c.(1192-1194)TCC>TGC		GRB2-associated binding protein family, member							75.0	83.0	80.0					22																	17447085		2040	4211	6251	SO:0001583	missense	128954							g.chr22:17447085G>C	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.1193C>G	22.37:g.17447085G>C	ENSP00000383431:p.Ser398Cys					GAB4_uc010gqs.1_3'UTR	p.S398C	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN			6	1301	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	398						Missense_Mutation	SNP	ENST00000400588.1	37	c.1193C>G	CCDS42976.1	.	.	.	.	.	.	.	.	.	.	G	4.350	0.064395	0.08388	.	.	ENSG00000215568	ENST00000400588	T	0.21932	1.98	2.96	-1.66	0.08265	.	0.390340	0.27891	N	0.017430	T	0.10508	0.0257	L	0.38175	1.15	0.23056	N	0.998364	P	0.36438	0.553	B	0.28232	0.087	T	0.13469	-1.0508	10	0.49607	T	0.09	.	4.1869	0.10402	0.4502:0.0:0.3138:0.236	.	398	Q2WGN9	GAB4_HUMAN	C	398	ENSP00000383431:S398C	ENSP00000383431:S398C	S	-	2	0	GAB4	15827085	1.000000	0.71417	0.017000	0.16124	0.002000	0.02628	1.721000	0.38032	-0.435000	0.07264	-1.465000	0.01017	TCC		0.592	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1		XM_372882		8	57	0	0	0	0.00308	0	8	57		
ZNF74	7625	broad.mit.edu	37	22	20749694	20749694	+	Missense_Mutation	SNP	G	G	A	rs139227842	byFrequency	TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:20749694G>A	ENST00000400451.2	+	2	620	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	ZNF74_ENST00000357502.5_Missense_Mutation_p.R41Q|ZNF74_ENST00000405993.1_Missense_Mutation_p.E36K|ZNF74_ENST00000403682.3_Intron|ZNF74_ENST00000356671.5_Missense_Mutation_p.E36K	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	36					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)	p.E36K(1)		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)			GGGTCTTCCCGAAGCCAGGTC	0.532													G|||	2	0.000399361	0.0	0.0	5008	,	,		19464	0.002		0.0	False		,,,				2504	0.0					uc010gsm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(106-108)GAA>AAA		zinc finger protein 74							135.0	142.0	140.0					22																	20749694		1966	4146	6112	SO:0001583	missense	7625				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr22:20749694G>A	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.106G>A	22.37:g.20749694G>A	ENSP00000383301:p.Glu36Lys					ZNF74_uc002zsg.2_5'UTR|ZNF74_uc002zsh.2_Missense_Mutation_p.E36K|ZNF74_uc002zsi.2_Intron|ZNF74_uc010gsn.2_5'UTR	p.E36K	NM_003426	NP_003417	Q16587	ZNF74_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)		3	318	+	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)	36					B5MCE3|B7Z5Y2|Q6IBV2|Q6PJP1|Q9UC04|Q9UF05|Q9UF06|Q9UF07	Missense_Mutation	SNP	ENST00000400451.2	37	c.106G>A	CCDS42982.1	2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	0|0	0.0|0.0	2|2	0.0034965034965034965|0.0034965034965034965	0|0	0.0|0.0	g|g	2.645|2.645	-0.283230|-0.283230	0.05642|0.05642	.|.	.|.	ENSG00000185252|ENSG00000185252	ENST00000400451;ENST00000356671;ENST00000405993|ENST00000357502	T;T;T|.	0.05382|.	3.53;3.53;3.45|.	4.34|4.34	2.18|2.18	0.27775|0.27775	Krueppel-associated box (1);|.	0.515223|.	0.14524|.	N|.	0.314283|.	T|T	0.17408|0.17408	0.0418|0.0418	N|N	0.08118|0.08118	0|0	0.22096|0.22096	N|N	0.999369|0.999369	B|.	0.21688|.	0.059|.	B|.	0.12837|.	0.008|.	T|T	0.22871|0.22871	-1.0204|-1.0204	10|6	0.05721|0.26408	T|T	0.95|0.33	-6.6236|-6.6236	5.9907|5.9907	0.19460|0.19460	0.1067:0.1937:0.6996:0.0|0.1067:0.1937:0.6996:0.0	.|.	36|.	Q16587|.	ZNF74_HUMAN|.	K|Q	36|41	ENSP00000383301:E36K;ENSP00000349098:E36K;ENSP00000385855:E36K|.	ENSP00000349098:E36K|ENSP00000350101:R41Q	E|R	+|+	1|2	0|0	ZNF74|ZNF74	19079694|19079694	0.513000|0.513000	0.26194|0.26194	0.992000|0.992000	0.48379|0.48379	0.061000|0.061000	0.15899|0.15899	1.428000|1.428000	0.34892|0.34892	0.562000|0.562000	0.29204|0.29204	0.591000|0.591000	0.81541|0.81541	GAA|CGA		0.532	ZNF74-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319648.2		NM_003426		4	57	0	0	0	0.009096	0	4	57		
EWSR1	2130	broad.mit.edu	37	22	29695597	29695597	+	Missense_Mutation	SNP	C	C	T	rs199957418		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:29695597C>T	ENST00000397938.2	+	16	2006	c.1687C>T	c.(1687-1689)Cgt>Tgt	p.R563C	EWSR1_ENST00000331029.7_Missense_Mutation_p.R525C|EWSR1_ENST00000414183.2_Missense_Mutation_p.R568C|EWSR1_ENST00000332035.6_Missense_Mutation_p.R507C|EWSR1_ENST00000332050.6_Missense_Mutation_p.R490C|EWSR1_ENST00000406548.1_Missense_Mutation_p.R562C	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	563	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R563C(1)	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGGTGGTGATCGTGGCAGAGG	0.607			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""								C|||	1	0.000199681	0.0	0.0	5008	,	,		17689	0.001		0.0	False		,,,				2504	0.0					uc003aet.2		NaN		Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1		Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma	EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2)	1	Substitution - Missense(1)		urinary_tract(1)	bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1)	3254						c.(1687-1689)CGT>TGT		Ewing sarcoma breakpoint region 1 isoform 2							82.0	66.0	72.0					22																	29695597		2203	4300	6503	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29695597C>T		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1687C>T	22.37:g.29695597C>T	ENSP00000381031:p.Arg563Cys					EWSR1_uc003aev.2_Missense_Mutation_p.R568C|EWSR1_uc003aew.2_Missense_Mutation_p.R507C|EWSR1_uc003aex.2_Missense_Mutation_p.R562C|EWSR1_uc003aey.2_Missense_Mutation_p.R358C|EWSR1_uc003aez.2_Missense_Mutation_p.R224C	p.R563C	NM_005243	NP_005234	Q01844	EWS_HUMAN			16	2015	+			563			Arg/Gly/Pro-rich.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.1687C>T	CCDS13851.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	13.04|13.04	2.117639|2.117639	0.37339|0.37339	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035|ENST00000360091	D;D;D;D;D;D|.	0.97186|.	-4.23;-3.68;-3.8;-4.28;-3.82;-3.7|.	5.19|5.19	4.16|4.16	0.48862|0.48862	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.54224|0.54224	0.1845|0.1845	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	B;B;B;B;B|.	0.15473|.	0.013;0.006;0.006;0.006;0.006|.	B;B;B;B;B|.	0.04013|.	0.001;0.001;0.001;0.0;0.0|.	T|T	0.49818|0.49818	-0.8899|-0.8899	10|5	0.72032|.	D|.	0.01|.	.|.	13.6141|13.6141	0.62097|0.62097	0.0:0.9246:0.0:0.0754|0.0:0.9246:0.0:0.0754	.|.	507;562;507;568;563|.	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844|.	.;.;.;.;EWS_HUMAN|.	C|L	490;563;562;525;568;507|214	ENSP00000330896:R490C;ENSP00000381031:R563C;ENSP00000385726:R562C;ENSP00000330516:R525C;ENSP00000400142:R568C;ENSP00000331699:R507C|.	ENSP00000330516:R525C|.	R|S	+|+	1|2	0|0	EWSR1|EWSR1	28025597|28025597	0.742000|0.742000	0.28228|0.28228	0.990000|0.990000	0.47175|0.47175	0.751000|0.751000	0.42716|0.42716	1.313000|1.313000	0.33585|0.33585	1.181000|1.181000	0.42912|0.42912	0.313000|0.313000	0.20887|0.20887	CGT|TCG		0.607	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1		NM_005243		3	33	0	0	0	0.014758	0	3	33		
NF2	4771	broad.mit.edu	37	22	30057255	30057255	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:30057255C>T	ENST00000338641.4	+	8	1178	c.737C>T	c.(736-738)cCt>cTt	p.P246L	NF2_ENST00000361166.4_Missense_Mutation_p.P246L|NF2_ENST00000413209.2_Intron|NF2_ENST00000353887.4_Missense_Mutation_p.P163L|NF2_ENST00000403435.1_Missense_Mutation_p.P246L|NF2_ENST00000361676.4_Missense_Mutation_p.P204L|NF2_ENST00000403999.3_Missense_Mutation_p.P246L|NF2_ENST00000397789.3_Missense_Mutation_p.P246L|NF2_ENST00000347330.5_Missense_Mutation_p.P87L|NF2_ENST00000334961.7_Missense_Mutation_p.P163L|NF2_ENST00000361452.4_Missense_Mutation_p.P205L	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	246	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)|p.P246L(2)|p.L232_P257del(1)|p.P246fs*5(1)|p.D245fs*31(1)|p.N226_E270del(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						ATTTATGACCCTGAGAACAGA	0.502			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																													uc003age.3		NaN	yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	D|Mis|N|F|S|O	neurofibromatosis type 2 gene			O		meningioma|acoustic neuroma	meningioma|acoustic neuroma|renal 		9	Unknown(3)|Substitution - Missense(2)|Deletion - In frame(2)|Complex - frameshift(1)|Deletion - Frameshift(1)	p.P246fs*5(2)|p.?(1)|p.N226_E270del(1)|p.D245fs*31(1)|p.L127_D382del(1)|p.L140_P252del(1)	soft_tissue(4)|urinary_tract(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)	meninges(372)|soft_tissue(284)|central_nervous_system(20)|kidney(10)|pleura(9)|skin(7)|large_intestine(5)|breast(5)|urinary_tract(3)|thyroid(2)|endometrium(2)|ovary(2)|lung(2)|stomach(2)|bone(2)|pituitary(1)	728	GRCh37	CD962104	NF2	D		c.(736-738)CCT>CTT		neurofibromin 2 isoform 1							118.0	113.0	115.0					22																	30057255		2203	4300	6503	SO:0001583	missense	4771	Neurofibromatosis_type_2	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	g.chr22:30057255C>T	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.737C>T	22.37:g.30057255C>T	ENSP00000344666:p.Pro246Leu					NF2_uc003afy.3_Missense_Mutation_p.P246L|NF2_uc003afz.3_Missense_Mutation_p.P163L|NF2_uc003agf.3_Missense_Mutation_p.P246L|NF2_uc003agb.3_Missense_Mutation_p.P169L|NF2_uc003agc.3_Missense_Mutation_p.P208L|NF2_uc003agd.3_RNA|NF2_uc003agg.3_Missense_Mutation_p.P246L|NF2_uc003aga.3_Missense_Mutation_p.P204L|NF2_uc003agh.3_Missense_Mutation_p.P205L|NF2_uc003agi.3_Missense_Mutation_p.P163L|NF2_uc003agj.3_Intron|NF2_uc003agk.3_Missense_Mutation_p.P208L	p.P246L	NM_000268	NP_000259	P35240	MERL_HUMAN			8	1180	+			246			FERM.		O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Missense_Mutation	SNP	ENST00000338641.4	37	c.737C>T	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.170801	0.38315	.	.	ENSG00000186575	ENST00000347330;ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	D;D;D;D;D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.81	4.79	0.61399	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.170646	0.53938	D	0.000055	T	0.73552	0.3601	N	0.12887	0.27	0.58432	D	0.999999	B;B;B;B;B;B	0.12013	0.001;0.001;0.002;0.002;0.005;0.003	B;B;B;B;B;B	0.12837	0.005;0.002;0.001;0.005;0.008;0.004	T	0.66826	-0.5825	9	.	.	.	.	10.5107	0.44860	0.0:0.8566:0.0:0.1434	.	205;246;246;204;163;246	P35240-5;P35240;P35240-2;P35240-6;P35240-4;P35240-3	.;MERL_HUMAN;.;.;.;.	L	87;246;246;205;246;246;163;163;246;204;246	ENSP00000335160:P87L;ENSP00000344666:P246L;ENSP00000384029:P246L;ENSP00000354897:P205L;ENSP00000384797:P246L;ENSP00000335652:P163L;ENSP00000340626:P163L;ENSP00000380891:P246L;ENSP00000355183:P204L;ENSP00000354529:P246L	.	P	+	2	0	NF2	28387255	0.955000	0.32602	1.000000	0.80357	0.986000	0.74619	2.182000	0.42556	2.747000	0.94245	0.650000	0.86243	CCT		0.502	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3		NM_000268		11	114	0	0	0	0.010729	0	11	114		
APOL1	8542	broad.mit.edu	37	22	36661781	36661781	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:36661781C>T	ENST00000397278.3	+	6	1128	c.899C>T	c.(898-900)tCa>tTa	p.S300L	APOL1_ENST00000347595.7_Missense_Mutation_p.S179L|APOL1_ENST00000397279.4_Missense_Mutation_p.S300L|APOL1_ENST00000319136.4_Missense_Mutation_p.S316L|APOL1_ENST00000422706.1_Missense_Mutation_p.S300L|APOL1_ENST00000426053.1_Missense_Mutation_p.S282L	NM_003661.3	NP_003652.2	O14791	APOL1_HUMAN	apolipoprotein L, 1	300					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cholesterol metabolic process (GO:0008203)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|intrinsic component of membrane (GO:0031224)|very-low-density lipoprotein particle (GO:0034361)	chloride channel activity (GO:0005254)|lipid binding (GO:0008289)	p.S316L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						CCGCATGCCTCAGCCTCACGC	0.557																																						uc003apf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|ovary(1)	3						c.(898-900)TCA>TTA		apolipoprotein L1 isoform a precursor							100.0	89.0	93.0					22																	36661781		2203	4300	6503	SO:0001583	missense	8542				cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	g.chr22:36661781C>T	AF019225	CCDS13925.1, CCDS13926.1, CCDS46702.1	22q13.1	2014-09-17			ENSG00000100342	ENSG00000100342		"""Apolipoproteins"""	618	protein-coding gene	gene with protein product		603743		APOL		9325276, 11374903, 16020735	Standard	NM_003661		Approved		uc011amp.2	O14791	OTTHUMG00000030427	ENST00000397278.3:c.899C>T	22.37:g.36661781C>T	ENSP00000380448:p.Ser300Leu					APOL1_uc011amn.1_Missense_Mutation_p.S177L|APOL1_uc003apc.2_RNA|APOL1_uc003ape.2_Missense_Mutation_p.S316L|APOL1_uc011amo.1_Missense_Mutation_p.S177L|APOL1_uc011amp.1_Missense_Mutation_p.S300L|APOL1_uc011amq.1_Missense_Mutation_p.S282L|APOL1_uc010gwx.2_Missense_Mutation_p.S177L	p.S300L	NM_003661	NP_003652	O14791	APOL1_HUMAN			6	1067	+			300					A5PLQ4|B4DU12|E9PF24|O60804|Q5R3P7|Q5R3P8|Q96AB8|Q96PM4|Q9BQ03	Missense_Mutation	SNP	ENST00000397278.3	37	c.899C>T	CCDS13926.1	.	.	.	.	.	.	.	.	.	.	c	5.809	0.333487	0.11013	.	.	ENSG00000100342	ENST00000397278;ENST00000422706;ENST00000426053;ENST00000319136;ENST00000347595;ENST00000397279	T;T;T;T;T;T	0.03468	3.92;3.92;3.92;3.92;3.92;3.92	0.589	-1.18	0.09617	.	0.472487	0.16653	U	0.205130	T	0.02119	0.0066	N	0.14661	0.345	0.09310	N	1	B;B;B	0.34372	0.451;0.451;0.397	B;B;B	0.36244	0.22;0.22;0.14	T	0.44467	-0.9326	9	0.35671	T	0.21	.	.	.	.	.	282;300;316	E9PF24;O14791;O14791-2	.;APOL1_HUMAN;.	L	300;300;282;316;179;300	ENSP00000380448:S300L;ENSP00000411507:S300L;ENSP00000388477:S282L;ENSP00000317674:S316L;ENSP00000216178:S179L;ENSP00000380449:S300L	ENSP00000317674:S316L	S	+	2	0	APOL1	34991727	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.830000	0.04410	-0.563000	0.06078	0.197000	0.17608	TCA		0.557	APOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319100.4		NM_145343		7	60	0	0	0	0.00308	0	7	60		
FAM83F	113828	broad.mit.edu	37	22	40415261	40415261	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:40415261C>T	ENST00000333407.6	+	2	673	c.579C>T	c.(577-579)taC>taT	p.Y193Y	FAM83F_ENST00000473717.1_Silent_p.Y25Y	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	193								p.Y193Y(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						TCCCAGTGTACATCATCCTGG	0.542																																						uc003ayk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(1)	1						c.(577-579)TAC>TAT		hypothetical protein LOC113828							185.0	142.0	156.0					22																	40415261		2203	4300	6503	SO:0001819	synonymous_variant	113828							g.chr22:40415261C>T		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.579C>T	22.37:g.40415261C>T							p.Y193Y	NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN			2	673	+			193					Q96FD6	Silent	SNP	ENST00000333407.6	37	c.579C>T	CCDS14000.2																																																																																				0.542	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3		NM_138435		12	50	0	0	0	0.024245	0	12	50		
TCF20	6942	broad.mit.edu	37	22	42609633	42609633	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:42609633G>A	ENST00000359486.3	-	1	1815	c.1679C>T	c.(1678-1680)cCg>cTg	p.P560L	TCF20_ENST00000335626.4_Missense_Mutation_p.P560L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.P560L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						ACCTTGTGCCGGTGAGGAGCC	0.577																																						uc003bcj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(1)	5						c.(1678-1680)CCG>CTG		transcription factor 20 isoform 1							71.0	68.0	69.0					22																	42609633		2203	4300	6503	SO:0001583	missense	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42609633G>A	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.1679C>T	22.37:g.42609633G>A	ENSP00000352463:p.Pro560Leu					TCF20_uc003bck.1_Missense_Mutation_p.P560L|TCF20_uc003bnt.2_Missense_Mutation_p.P560L	p.P560L	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN			1	1813	-			560					A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	c.1679C>T	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551780	0.65311	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.66638	-0.22;1.47	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.74831	0.3768	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.76479	-0.2944	10	0.87932	D	0	-11.303	20.8794	0.99867	0.0:0.0:1.0:0.0	.	560;560	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	L	560	ENSP00000352463:P560L;ENSP00000335561:P560L	ENSP00000335561:P560L	P	-	2	0	TCF20	40939577	1.000000	0.71417	0.634000	0.29324	0.933000	0.57130	5.498000	0.66931	2.941000	0.99782	0.655000	0.94253	CCG		0.577	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1		NM_181492		18	82	0	0	0	0.0333	0	18	82		
CELSR1	9620	broad.mit.edu	37	22	46759909	46759909	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:46759909C>T	ENST00000262738.3	-	34	9018	c.9019G>A	c.(9019-9021)Gat>Aat	p.D3007N		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	3007					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.D3007N(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCGGAGCCATCGGCCTGGGCG	0.672																																						uc003bhw.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(9019-9021)GAT>AAT		cadherin EGF LAG seven-pass G-type receptor 1							14.0	18.0	17.0					22																	46759909		2183	4286	6469	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46759909C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.9019G>A	22.37:g.46759909C>T	ENSP00000262738:p.Asp3007Asn						p.D3007N	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	34	9019	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	3007			Cytoplasmic (Potential).		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.9019G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	5.898	0.349739	0.11182	.	.	ENSG00000075275	ENST00000262738	T	0.68624	-0.34	4.85	-4.05	0.03998	.	1.200130	0.06974	N	0.818593	T	0.46328	0.1387	L	0.28192	0.835	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.28776	-1.0033	10	0.13108	T	0.6	.	8.1039	0.30874	0.0:0.5859:0.1159:0.2983	.	3007	Q9NYQ6	CELR1_HUMAN	N	3007	ENSP00000262738:D3007N	ENSP00000262738:D3007N	D	-	1	0	CELSR1	45138573	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	0.443000	0.21644	-1.071000	0.03145	0.563000	0.77884	GAT		0.672	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		NM_014246		7	14	0	0	0	0.004482	0	7	14		
PLXNB2	23654	broad.mit.edu	37	22	50718479	50718479	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:50718479C>A	ENST00000449103.1	-	26	4337	c.4197G>T	c.(4195-4197)agG>agT	p.R1399S	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R1399S			O15031	PLXB2_HUMAN	plexin B2	1399					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.R1442S(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGGACAGCATCCTCTCCACCA	0.612																																						uc003bkv.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4195-4197)AGG>AGT		plexin B2 precursor							77.0	89.0	85.0					22																	50718479		2182	4289	6471	SO:0001583	missense	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50718479C>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4197G>T	22.37:g.50718479C>A	ENSP00000409171:p.Arg1399Ser					PLXNB2_uc003bkt.1_Missense_Mutation_p.R191S|PLXNB2_uc003bku.1_Missense_Mutation_p.R384S	p.R1399S	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	26	4303	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1399			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Missense_Mutation	SNP	ENST00000449103.1	37	c.4197G>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	c	21.0	4.075242	0.76415	.	.	ENSG00000196576	ENST00000449103;ENST00000359337;ENST00000399964	T;T	0.21361	2.01;2.01	4.49	-1.24	0.09435	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.41003	0.1140	M	0.79475	2.455	0.48571	D	0.99967	D	0.76494	0.999	D	0.75484	0.986	T	0.38178	-0.9673	10	0.87932	D	0	.	10.251	0.43368	0.0:0.5268:0.0:0.4732	.	1399	O15031	PLXB2_HUMAN	S	1399;1399;31	ENSP00000409171:R1399S;ENSP00000352288:R1399S	ENSP00000352288:R1399S	R	-	3	2	PLXNB2	49060606	0.909000	0.30893	0.998000	0.56505	0.962000	0.63368	0.046000	0.14035	-0.003000	0.14444	0.457000	0.33378	AGG		0.612	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3		NM_012401		5	38	1	0	1.23904e-05	0.014758	1.35442e-05	5	38		
ATP2B2	491	broad.mit.edu	37	3	10370803	10370803	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:10370803C>T	ENST00000352432.4	-	22	3496	c.3427G>A	c.(3427-3429)Gtc>Atc	p.V1143I	ATP2B2_ENST00000467702.2_5'UTR|ATP2B2_ENST00000397077.1_Missense_Mutation_p.V1098I|ATP2B2_ENST00000383800.4_Missense_Mutation_p.V1098I|MIR378B_ENST00000578876.1_RNA|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V1143I|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V1129I			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1143	Calmodulin-binding subdomain B. {ECO:0000250}.				auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)	p.V1143I(1)|p.V1098I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCCTTCACGACGCGGATCTGC	0.582																																					Ovarian(125;1619 1709 15675 19819 38835)	uc003bvt.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(3427-3429)GTC>ATC		plasma membrane calcium ATPase 2 isoform 1							63.0	65.0	64.0					3																	10370803		2203	4300	6503	SO:0001583	missense	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10370803C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.3427G>A	3.37:g.10370803C>T	ENSP00000324172:p.Val1143Ile					ATP2B2_uc003bvv.2_Missense_Mutation_p.V1098I|ATP2B2_uc003bvw.2_Missense_Mutation_p.V1098I|ATP2B2_uc003bvs.2_RNA|ATP2B2_uc010hdo.2_Missense_Mutation_p.V848I|hsa-mir-378b|MI0014154_5'Flank	p.V1143I	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN			23	3866	-			1143			Calmodulin-binding subdomain B (By similarity).|Cytoplasmic (Potential).		O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	37	c.3427G>A	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210969	0.95069	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000429937;ENST00000452124	D;D;D;D;D;D	0.92545	-3.06;-3.06;-3.06;-3.06;-3.06;-3.06	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.96839	0.8968	M	0.90483	3.12	0.80722	D	1	D;D;D	0.71674	0.992;0.998;0.964	D;D;P	0.74023	0.952;0.982;0.788	D	0.97386	0.9986	10	0.66056	D	0.02	-42.4229	18.9216	0.92528	0.0:1.0:0.0:0.0	.	1078;1110;1143	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	I	1143;1098;1098;1143;1129;1078;332;999	ENSP00000324172:V1143I;ENSP00000373311:V1098I;ENSP00000380267:V1098I;ENSP00000353414:V1143I;ENSP00000344677:V1129I;ENSP00000414854:V999I	ENSP00000344677:V1129I	V	-	1	0	ATP2B2	10345803	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.761000	0.85260	2.441000	0.82636	0.650000	0.86243	GTC		0.582	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2		NM_001683		4	57	0	0	0	0.009096	0	4	57		
TRIM71	131405	broad.mit.edu	37	3	32927521	32927521	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:32927521G>A	ENST00000383763.5	+	3	1179	c.1116G>A	c.(1114-1116)aaG>aaA	p.K372K		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	372					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K372K(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGAGGCATAAGAAAGCCCTGG	0.617																																						uc003cff.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|large_intestine(1)	3						c.(1114-1116)AAG>AAA		tripartite motif-containing 71							78.0	90.0	86.0					3																	32927521		2157	4237	6394	SO:0001819	synonymous_variant	131405				multicellular organismal development	cytoplasm	zinc ion binding	g.chr3:32927521G>A		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.1116G>A	3.37:g.32927521G>A							p.K372K	NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN			3	1179	+			372						Silent	SNP	ENST00000383763.5	37	c.1116G>A	CCDS43060.1																																																																																				0.617	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3		NM_001039111		5	39	0	0	0	0.014758	0	5	39		
SLC22A13	9390	broad.mit.edu	37	3	38318947	38318947	+	Silent	SNP	A	A	G	rs200938977		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:38318947A>G	ENST00000311856.4	+	10	1696	c.1647A>G	c.(1645-1647)acA>acG	p.T549T		NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	549					nicotinate transport (GO:2001142)|organic cation transport (GO:0015695)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	nicotinate transporter activity (GO:0090416)|organic cation transmembrane transporter activity (GO:0015101)	p.T549T(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TGAGCAGCACATACTTCTGAT	0.562													A|||	1	0.000199681	0.0	0.0	5008	,	,		20982	0.001		0.0	False		,,,				2504	0.0					uc003chz.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(1645-1647)ACA>ACG		solute carrier family 22 (organic anion							99.0	106.0	103.0					3																	38318947		2203	4300	6503	SO:0001819	synonymous_variant	9390					integral to plasma membrane	organic cation transmembrane transporter activity	g.chr3:38318947A>G	AB010438	CCDS2676.1	3p22.2	2013-07-18	2013-07-18	2003-10-15	ENSG00000172940	ENSG00000172940		"""Solute carriers"""	8494	protein-coding gene	gene with protein product		604047	"""organic cationic transporter-like 3"", ""solute carrier family 22 (organic anion transporter), member 13"""	ORCTL3		10072596, 18411268	Standard	NM_004256		Approved	OCTL1, OCTL3, OAT10	uc003chz.3	Q9Y226	OTTHUMG00000131086	ENST00000311856.4:c.1647A>G	3.37:g.38318947A>G							p.T549T	NM_004256	NP_004247	Q9Y226	S22AD_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)	10	1701	+			549			Cytoplasmic (Potential).		B2RCV9|Q8IYG1	Silent	SNP	ENST00000311856.4	37	c.1647A>G	CCDS2676.1																																																																																				0.562	SLC22A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253746.2		NM_004256		6	67	0	0	0	0.021553	0	6	67		
CCDC36	339834	broad.mit.edu	37	3	49294677	49294677	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:49294677G>A	ENST00000438782.1	+	8	1983	c.1747G>A	c.(1747-1749)Gac>Aac	p.D583N	CCDC36_ENST00000452691.2_Missense_Mutation_p.D583N|RP11-3B7.1_ENST00000440528.3_5'Flank|CCDC36_ENST00000296449.5_Missense_Mutation_p.D583N			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	583								p.D573N(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TTTGCTCTATGACCTGGGTTT	0.488																																						uc003cwk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|kidney(1)	2						c.(1747-1749)GAC>AAC		coiled-coil domain containing 36							161.0	170.0	167.0					3																	49294677		2203	4300	6503	SO:0001583	missense	339834							g.chr3:49294677G>A	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.1747G>A	3.37:g.49294677G>A	ENSP00000391788:p.Asp583Asn					CCDC36_uc011bck.1_Missense_Mutation_p.D583N	p.D583N	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	10	2134	+			583					C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	ENST00000438782.1	37	c.1747G>A	CCDS33755.2	.	.	.	.	.	.	.	.	.	.	G	13.45	2.242223	0.39598	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000309062	T;T;T	0.48522	0.81;0.81;0.81	4.9	3.04	0.35103	.	0.466390	0.20074	N	0.099817	T	0.47893	0.1470	L	0.32530	0.975	0.58432	D	0.999998	D	0.57257	0.979	P	0.54270	0.747	T	0.41484	-0.9506	10	0.49607	T	0.09	-2.1832	11.4883	0.50367	0.0:0.3508:0.6492:0.0	.	583	Q8IYA8	CCD36_HUMAN	N	583;583;583;563	ENSP00000296449:D583N;ENSP00000391788:D583N;ENSP00000407837:D583N	ENSP00000296449:D583N	D	+	1	0	CCDC36	49269681	0.074000	0.21230	0.837000	0.33122	0.924000	0.55760	1.242000	0.32755	0.720000	0.32209	0.561000	0.74099	GAC		0.488	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1		NM_178173		13	118	0	0	0	0.013537	0	13	118		
HSPBAP1	79663	broad.mit.edu	37	3	122459659	122459659	+	Missense_Mutation	SNP	C	C	T	rs374027028		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:122459659C>T	ENST00000306103.2	-	8	1143	c.1000G>A	c.(1000-1002)Gat>Aat	p.D334N	HSPBAP1_ENST00000383659.1_3'UTR	NM_024610.5	NP_078886.2	Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	334						cytoplasm (GO:0005737)		p.D334Y(1)|p.D334N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		CTGCAGCGATCAAAAAATGCA	0.403																																						uc003efu.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	ovary(1)|lung(1)	2						c.(1000-1002)GAT>AAT		Hspb associated protein 1							119.0	115.0	116.0					3																	122459659		2203	4300	6503	SO:0001583	missense	79663					cytoplasm		g.chr3:122459659C>T	AF400663	CCDS3017.1	3q21.1	2008-07-18	2002-08-29		ENSG00000169087	ENSG00000169087			16389	protein-coding gene	gene with protein product		608263	"""HSPB (heat shock 27kD) associated protein 1"""			11978969	Standard	NM_024610		Approved	FLJ22623, PASS1	uc003efu.2	Q96EW2	OTTHUMG00000159550	ENST00000306103.2:c.1000G>A	3.37:g.122459659C>T	ENSP00000302562:p.Asp334Asn					HSPBAP1_uc003eft.1_Missense_Mutation_p.D45N	p.D334N	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	8	1123	-			334					Q6P476|Q8N8J4|Q8NHH6|Q8WWF0	Missense_Mutation	SNP	ENST00000306103.2	37	c.1000G>A	CCDS3017.1	.	.	.	.	.	.	.	.	.	.	C	8.106	0.777816	0.16120	.	.	ENSG00000169087	ENST00000306103	T	0.33216	1.42	5.38	1.68	0.24146	Cupin, JmjC-type (1);	0.787349	0.12649	N	0.450611	T	0.19087	0.0458	L	0.28740	0.885	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.30765	-0.9967	10	0.18276	T	0.48	.	7.2798	0.26304	0.0:0.5446:0.0:0.4554	.	334	Q96EW2	HBAP1_HUMAN	N	334	ENSP00000302562:D334N	ENSP00000302562:D334N	D	-	1	0	HSPBAP1	123942349	0.080000	0.21391	0.009000	0.14445	0.430000	0.31655	0.675000	0.25232	0.137000	0.18759	-0.136000	0.14681	GAT		0.403	HSPBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356161.1		NM_024610		11	131	0	0	0	0.013537	0	11	131		
KCNAB1	7881	broad.mit.edu	37	3	156234066	156234066	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:156234066C>T	ENST00000490337.1	+	11	937	c.873C>T	c.(871-873)ggC>ggT	p.G291G	KCNAB1_ENST00000389634.5_Silent_p.G244G|KCNAB1_ENST00000389636.5_Silent_p.G262G|KCNAB1_ENST00000302490.8_Silent_p.G273G|KCNAB1_ENST00000471742.1_Silent_p.G280G|KCNAB1_ENST00000497291.1_3'UTR	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	291					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.G291G(1)|p.G273G(1)|p.G280G(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TAGGTGTTGGCGCAATGACAT	0.453																																						uc003far.2		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)	ovary(3)|skin(1)	4						c.(871-873)GGC>GGT		potassium voltage-gated channel, shaker-related							109.0	109.0	109.0					3																	156234066		2203	4300	6503	SO:0001819	synonymous_variant	7881					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr3:156234066C>T	U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.873C>T	3.37:g.156234066C>T						KCNAB1_uc011bon.1_Silent_p.G262G|KCNAB1_uc003fas.2_Silent_p.G280G|KCNAB1_uc003fat.2_Silent_p.G273G|KCNAB1_uc010hvt.1_Silent_p.G244G|KCNAB1_uc011boo.1_Silent_p.G167G	p.G291G	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		11	937	+			291					A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Silent	SNP	ENST00000490337.1	37	c.873C>T	CCDS3174.1																																																																																				0.453	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351411.1		NM_003471		5	45	0	0	0	0.014758	0	5	45		
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		555	Substitution - Missense(555)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1624-1626)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				6	38	0	0	0	0.00308	0	6	38		
NOP14	8602	broad.mit.edu	37	4	2950082	2950082	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:2950082C>G	ENST00000314262.6	-	9	1384	c.1336G>C	c.(1336-1338)Gag>Cag	p.E446Q	NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000515194.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.E446Q|NOP14_ENST00000398071.4_Missense_Mutation_p.E446Q|NOP14_ENST00000416614.2_Missense_Mutation_p.E446Q|NOP14-AS1_ENST00000505731.1_RNA	NM_003703.1	NP_003694.1	P78316	NOP14_HUMAN	NOP14 nucleolar protein	446					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|membrane (GO:0016020)|mitochondrion (GO:0005739)|Noc4p-Nop14p complex (GO:0030692)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)	p.E446Q(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						AAAAGCTGCTCTTCCATCGAT	0.413																																						uc003ggj.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(1336-1338)GAG>CAG		probable nucleolar complex protein 14							159.0	135.0	143.0					4																	2950082		2203	4300	6503	SO:0001583	missense	8602				endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding	g.chr4:2950082C>G	AB000467	CCDS33945.1	4p16.3	2012-12-10	2012-12-10	2008-10-13	ENSG00000087269	ENSG00000087269			16821	protein-coding gene	gene with protein product	"""NOP14 homolog (S. cerevisiae)"""	611526	"""chromosome 4 open reading frame 9"", ""nucleolar protein 14"", ""nucleolar protein 14 homolog (yeast)"", ""NOP14 nucleolar protein homolog (yeast)"""	C4orf9, NOL14		9734812, 11694595	Standard	XR_241655		Approved	RES4-25, UTP2	uc003ggj.1	P78316	OTTHUMG00000159911	ENST00000314262.6:c.1336G>C	4.37:g.2950082C>G	ENSP00000315674:p.Glu446Gln					C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Missense_Mutation_p.E192Q|NOP14_uc003ggk.3_Missense_Mutation_p.E446Q|NOP14_uc003ggl.2_Missense_Mutation_p.E446Q	p.E446Q	NM_003703	NP_003694	P78316	NOP14_HUMAN			9	1408	-			446					D3DVR6|Q7LGI5|Q7Z6K0|Q8TBR6	Missense_Mutation	SNP	ENST00000314262.6	37	c.1336G>C	CCDS33945.1	.	.	.	.	.	.	.	.	.	.	C	6.194	0.403974	0.11754	.	.	ENSG00000087269	ENST00000416614;ENST00000314262;ENST00000502735;ENST00000398071;ENST00000546137	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.17	3.39	0.38822	.	0.329259	0.32736	N	0.005716	T	0.15349	0.0370	N	0.05124	-0.11	0.31945	N	0.610429	B;B;B	0.21071	0.03;0.051;0.051	B;B;B	0.19946	0.018;0.027;0.027	T	0.09314	-1.0680	10	0.87932	D	0	-27.8579	9.3928	0.38383	0.0:0.6388:0.2668:0.0945	.	239;446;446	Q96GC8;E9PFK5;P78316	.;.;NOP14_HUMAN	Q	446;446;446;446;345	ENSP00000405068:E446Q;ENSP00000315674:E446Q;ENSP00000427415:E446Q;ENSP00000381146:E446Q	ENSP00000315674:E446Q	E	-	1	0	NOP14	2919880	0.862000	0.29867	0.686000	0.30086	0.497000	0.33675	1.183000	0.32041	1.171000	0.42768	0.563000	0.77884	GAG		0.413	NOP14-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358135.2		NM_003703		10	88	0	0	0	0.006214	0	10	88		
UGDH	7358	broad.mit.edu	37	4	39523129	39523129	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:39523129A>G	ENST00000316423.6	-	2	346	c.4T>C	c.(4-6)Ttt>Ctt	p.F2L	UGDH_ENST00000506179.1_Missense_Mutation_p.F2L|UGDH_ENST00000501493.2_Missense_Mutation_p.F2L|UGDH_ENST00000515398.1_Intron|UGDH_ENST00000507089.1_Intron	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	2					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)	p.F2L(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						TTAATTTCAAACATGATTGTA	0.333																																						uc003guk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(4-6)TTT>CTT		UDP-glucose dehydrogenase	NADH(DB00157)						103.0	92.0	96.0					4																	39523129		2203	4300	6503	SO:0001583	missense	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39523129A>G	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.4T>C	4.37:g.39523129A>G	ENSP00000319501:p.Phe2Leu					UGDH_uc011byp.1_Intron|UGDH_uc003gul.1_Missense_Mutation_p.F2L	p.F2L	NM_003359	NP_003350	O60701	UGDH_HUMAN			2	320	-			2					B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	c.4T>C	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	A	8.055	0.766824	0.15983	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000515021;ENST00000514106;ENST00000509391;ENST00000505698;ENST00000510490	T;T;T;T;T	0.81415	-1.49;-0.94;-1.49;-0.95;-0.91	6.07	2.0	0.26442	.	0.205883	0.52532	D	0.000061	T	0.65333	0.2681	N	0.14661	0.345	0.80722	D	1	B;B	0.12630	0.004;0.006	B;B	0.10450	0.002;0.005	T	0.58059	-0.7703	10	0.42905	T	0.14	-15.2233	12.8409	0.57802	0.595:0.405:0.0:0.0	.	2;2	B3KUU2;O60701	.;UGDH_HUMAN	L	2;2;2;15;2;2;2;2	ENSP00000319501:F2L;ENSP00000422909:F2L;ENSP00000421757:F2L;ENSP00000421954:F15L;ENSP00000425834:F2L	ENSP00000319501:F2L	F	-	1	0	UGDH	39199524	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.985000	0.40668	0.491000	0.27793	0.533000	0.62120	TTT		0.333	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3		NM_003359		3	58	0	0	0	0.004672	0	3	58		
SLC30A9	10463	broad.mit.edu	37	4	42069148	42069148	+	Silent	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:42069148T>C	ENST00000264451.7	+	14	1371	c.1191T>C	c.(1189-1191)gaT>gaC	p.D397D		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	397					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D397D(1)		central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TATTGGAGGATACTGCTGCAG	0.353																																						uc003gwl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(2)|ovary(1)	3						c.(1189-1191)GAT>GAC		solute carrier family 30 (zinc transporter),							162.0	169.0	167.0					4																	42069148		2203	4300	6503	SO:0001819	synonymous_variant	10463				nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity	g.chr4:42069148T>C	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.1191T>C	4.37:g.42069148T>C						SLC30A9_uc011byx.1_Silent_p.D157D	p.D397D	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN			14	1337	+			397			Helical; (Potential).		Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Silent	SNP	ENST00000264451.7	37	c.1191T>C	CCDS3465.1																																																																																				0.353	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3				5	110	0	0	0	0.021553	0	5	110		
UGT2B10	7365	broad.mit.edu	37	4	69692212	69692212	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:69692212C>T	ENST00000265403.7	+	4	1111	c.1084C>T	c.(1084-1086)Cta>Tta	p.L362L	UGT2B10_ENST00000458688.2_Silent_p.L278L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	362					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.L362L(2)		endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAATGACCTTCTAGGTAACAC	0.378																																					Melanoma(133;755 1763 25578 26334 46021)	uc003hee.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	skin(3)|ovary(2)	5						c.(1084-1086)CTA>TTA		UDP glucuronosyltransferase 2B10 isoform 1							119.0	112.0	115.0					4																	69692212		2203	4300	6503	SO:0001819	synonymous_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69692212C>T	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1084C>T	4.37:g.69692212C>T						UGT2B10_uc011cam.1_Silent_p.L278L	p.L362L	NM_001075	NP_001066	P36537	UDB10_HUMAN			4	1109	+			362					A8K9M3|B4DPP1|Q14CR8	Silent	SNP	ENST00000265403.7	37	c.1084C>T																																																																																					0.378	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1		NM_001075		5	63	0	0	0	0.021553	0	5	63		
HSD17B13	345275	broad.mit.edu	37	4	88239530	88239530	+	Missense_Mutation	SNP	T	T	C	rs372506188		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:88239530T>C	ENST00000328546.4	-	2	333	c.269A>G	c.(268-270)tAt>tGt	p.Y90C	HSD17B13_ENST00000302219.6_Intron|RP11-529H2.2_ENST00000508163.1_RNA	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	90						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)	p.Y90C(1)		endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		GTCTACCACATACGCATGCGC	0.458																																						uc003hqo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(268-270)TAT>TGT		hydroxysteroid (17-beta) dehydrogenase 13		T	CYS/TYR,	0,4406		0,0,2203	138.0	121.0	127.0		269,	-2.5	0.0	4		127	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron	HSD17B13	NM_178135.3,NM_001136230.1	194,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,	90/301,	88239530	1,13005	2203	4300	6503	SO:0001583	missense	345275					extracellular region	binding|oxidoreductase activity	g.chr4:88239530T>C		CCDS3618.1, CCDS47097.1	4q22.1	2011-09-20			ENSG00000170509	ENSG00000170509	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18685	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 3"""	612127				19027726	Standard	NM_178135		Approved	SCDR9, SDR16C3	uc003hqo.2	Q7Z5P4	OTTHUMG00000130602	ENST00000328546.4:c.269A>G	4.37:g.88239530T>C	ENSP00000333300:p.Tyr90Cys					HSD17B13_uc010ikk.2_Intron	p.Y90C	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000308)	2	332	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	90					A8K9R9|Q2M1L5|Q86W22|Q86W23	Missense_Mutation	SNP	ENST00000328546.4	37	c.269A>G	CCDS3618.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.911467	0.33721	0.0	1.16E-4	ENSG00000170509	ENST00000328546	D	0.89746	-2.56	4.94	-2.53	0.06326	NAD(P)-binding domain (1);	0.500388	0.19816	N	0.105433	D	0.92319	0.7563	M	0.85859	2.78	0.09310	N	1	D	0.69078	0.997	D	0.69479	0.964	D	0.85626	0.1267	10	0.87932	D	0	.	7.0299	0.24960	0.2948:0.0:0.0767:0.6285	.	90	Q7Z5P4	DHB13_HUMAN	C	90	ENSP00000333300:Y90C	ENSP00000333300:Y90C	Y	-	2	0	HSD17B13	88458554	0.001000	0.12720	0.005000	0.12908	0.378000	0.30076	-0.113000	0.10774	-0.591000	0.05859	-0.649000	0.03915	TAT		0.458	HSD17B13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253052.1		NM_178135		6	62	0	0	0	0.021553	0	6	62		
ZGRF1	55345	broad.mit.edu	37	4	113468478	113468478	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:113468478C>G	ENST00000505019.1	-	24	5686	c.5561G>C	c.(5560-5562)gGa>gCa	p.G1854A	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		1854						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.G1854A(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TTGTTCCAATCCATTTTCATG	0.373																																						uc003iau.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(5560-5562)GGA>GCA		prematurely terminated mRNA decay factor-like							103.0	92.0	96.0					4																	113468478		2203	4300	6503	SO:0001583	missense	55345					integral to membrane	zinc ion binding	g.chr4:113468478C>G																												ENST00000505019.1:c.5561G>C	4.37:g.113468478C>G	ENSP00000424737:p.Gly1854Ala					C4orf21_uc003iav.2_RNA|C4orf21_uc003iat.2_Missense_Mutation_p.G312A	p.G1854A	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	24	5772	-		Ovarian(17;0.156)	676					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Missense_Mutation	SNP	ENST00000505019.1	37	c.5561G>C		.	.	.	.	.	.	.	.	.	.	C	25.8	4.678381	0.88542	.	.	ENSG00000138658	ENST00000505019	D	0.87256	-2.23	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.94518	0.8235	M	0.85630	2.765	0.80722	D	1	D;D	0.76494	0.999;0.959	D;P	0.75484	0.986;0.712	D	0.94468	0.7682	10	0.87932	D	0	-35.2838	20.3368	0.98748	0.0:1.0:0.0:0.0	.	1854;312	G5EA02;B3KQX2	.;.	A	1854	ENSP00000424737:G1854A	ENSP00000424737:G1854A	G	-	2	0	C4orf21	113687927	0.999000	0.42202	0.998000	0.56505	0.993000	0.82548	5.066000	0.64351	2.805000	0.96524	0.655000	0.94253	GGA		0.373	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1				3	31	0	0	0	0.004672	0	3	31		
SH3D19	152503	broad.mit.edu	37	4	152065152	152065152	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:152065152C>G	ENST00000409252.2	-	12	2069	c.1362G>C	c.(1360-1362)gaG>gaC	p.E454D	SH3D19_ENST00000455740.1_Missense_Mutation_p.E431D|SH3D19_ENST00000304527.4_Missense_Mutation_p.E454D|SH3D19_ENST00000424281.1_Missense_Mutation_p.E395D|SH3D19_ENST00000427414.2_Missense_Mutation_p.E395D|SH3D19_ENST00000514152.1_Missense_Mutation_p.E431D|RP11-372K14.2_ENST00000603472.1_RNA|SH3D19_ENST00000409598.4_Missense_Mutation_p.E431D			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	454	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cytoskeleton organization (GO:0007010)|membrane organization (GO:0061024)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of cell morphogenesis (GO:0022604)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.E451D(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CCTTTTGGCACTCCAAGTAAT	0.398																																						uc010ipl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1360-1362)GAG>GAC		SH3 domain containing 19 isoform a							151.0	140.0	144.0					4																	152065152		2203	4300	6503	SO:0001583	missense	152503				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding	g.chr4:152065152C>G	BX647422	CCDS34077.2, CCDS47143.1, CCDS47144.1	4q31.3	2009-03-05	2009-03-05	2009-03-05	ENSG00000109686	ENSG00000109686			30418	protein-coding gene	gene with protein product	"""EEN binding protein"""	608674				12477932	Standard	NM_001009555		Approved	DKFZp434D0215, EVE1, EBP, Kryn, SH3P19	uc010ipl.1	Q5HYK7	OTTHUMG00000154051	ENST00000409252.2:c.1362G>C	4.37:g.152065152C>G	ENSP00000386848:p.Glu454Asp					SH3D19_uc003imb.2_Missense_Mutation_p.E209D|SH3D19_uc003imc.2_Missense_Mutation_p.E395D|SH3D19_uc003ime.2_Missense_Mutation_p.E431D|SH3D19_uc010ipm.2_Missense_Mutation_p.E431D	p.E454D	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN			13	2452	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)	454			SH3 1.		B7Z296|Q08EK1|Q32N10|Q5U3B8|Q86XB3|Q8N5E7|Q9UFC8	Missense_Mutation	SNP	ENST00000409252.2	37	c.1362G>C	CCDS34077.2	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696638	0.68386	.	.	ENSG00000109686	ENST00000409598;ENST00000304527;ENST00000455740;ENST00000424281;ENST00000427414;ENST00000409252;ENST00000514152	T;T;T;T;T;T;T	0.70631	-0.5;2.95;-0.5;-0.47;-0.47;2.95;-0.5	5.82	1.84	0.25277	Src homology-3 domain (2);Variant SH3 (1);	0.855658	0.09784	N	0.756254	T	0.71213	0.3313	L	0.53249	1.67	0.42957	D	0.994396	P;P;P;P	0.50528	0.741;0.868;0.936;0.773	P;P;P;P	0.51415	0.593;0.535;0.669;0.52	T	0.60989	-0.7153	10	0.20519	T	0.43	-19.0468	9.669	0.40002	0.0:0.4065:0.0:0.5935	.	454;431;395;209	Q5HYK7;Q5HYK7-2;Q5HYK7-3;B3KY23	SH319_HUMAN;.;.;.	D	431;454;431;395;395;454;431	ENSP00000387030:E431D;ENSP00000302913:E454D;ENSP00000416708:E431D;ENSP00000404542:E395D;ENSP00000415694:E395D;ENSP00000386848:E454D;ENSP00000423449:E431D	ENSP00000302913:E454D	E	-	3	2	SH3D19	152284602	0.997000	0.39634	1.000000	0.80357	0.977000	0.68977	0.253000	0.18296	0.078000	0.16900	-0.367000	0.07326	GAG		0.398	SH3D19-002	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335132.3		NM_001009555		4	55	0	0	0	0.009096	0	4	55		
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:153247366C>G	ENST00000281708.4	-	10	2665	c.1436G>C	c.(1435-1437)cGa>cCa	p.R479P	FBXW7_ENST00000603548.1_Missense_Mutation_p.R479P|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303P|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361P|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399P|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479P	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NaN		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		47	Substitution - Missense(46)|Unknown(1)	p.R479Q(31)|p.R479L(7)|p.R479G(3)|p.R399Q(2)|p.R240L(1)|p.R399L(1)	haematopoietic_and_lymphoid_tissue(16)|large_intestine(9)|endometrium(7)|urinary_tract(5)|upper_aerodigestive_tract(4)|lung(4)|stomach(1)|kidney(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1435-1437)CGA>CCA		F-box and WD repeat domain containing 7 isoform							85.0	80.0	82.0					4																	153247366		2203	4299	6502	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247366C>G	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1436G>C	4.37:g.153247366C>G	ENSP00000281708:p.Arg479Pro					FBXW7_uc011cii.1_Missense_Mutation_p.R479P|FBXW7_uc003imt.2_Missense_Mutation_p.R479P|FBXW7_uc011cih.1_Missense_Mutation_p.R303P|FBXW7_uc003imq.2_Missense_Mutation_p.R399P|FBXW7_uc003imr.2_Missense_Mutation_p.R361P	p.R479P	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1585	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	479			WD 3.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1436G>C	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.787466	0.90367	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58581	0.2132	L	0.38692	1.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.58819	-0.7569	10	0.87932	D	0	-12.7081	20.2406	0.98372	0.0:1.0:0.0:0.0	.	303;479;361;399	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	P	479;361;399;303	ENSP00000281708:R479P;ENSP00000296555:R361P;ENSP00000263981:R399P;ENSP00000377528:R303P	ENSP00000263981:R399P	R	-	2	0	FBXW7	153466816	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.715000	0.84713	2.857000	0.98124	0.650000	0.86243	CGA		0.403	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1				5	59	0	0	0	0.014758	0	5	59		
GUCY1B3	2983	broad.mit.edu	37	4	156715077	156715077	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:156715077G>C	ENST00000264424.8	+	6	647	c.565G>C	c.(565-567)Gag>Cag	p.E189Q	GUCY1B3_ENST00000503520.1_Missense_Mutation_p.E189Q|GUCY1B3_ENST00000513437.1_Missense_Mutation_p.E121Q|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.E169Q|GUCY1B3_ENST00000502959.1_Missense_Mutation_p.E211Q|GUCY1B3_ENST00000505154.1_Missense_Mutation_p.E121Q|GUCY1B3_ENST00000507146.1_Missense_Mutation_p.E121Q	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	189					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)	cytoplasm (GO:0005737)|guanylate cyclase complex, soluble (GO:0008074)|intracellular membrane-bounded organelle (GO:0043231)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)	p.E189Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		GTCAAAAGAAGAGGATTTTTA	0.333																																						uc003ipc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(565-567)GAG>CAG		guanylate cyclase 1, soluble, beta 3							60.0	60.0	60.0					4																	156715077		1835	4076	5911	SO:0001583	missense	2983				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	g.chr4:156715077G>C	AF020340	CCDS47154.1, CCDS75203.1	4q31.3-q33	2008-03-18			ENSG00000061918	ENSG00000061918	4.6.1.2		4687	protein-coding gene	gene with protein product		139397		GUC1B3		1352257	Standard	XM_005262959		Approved	GC-SB3, GC-S-beta-1	uc003ipc.3	Q02153	OTTHUMG00000161698	ENST00000264424.8:c.565G>C	4.37:g.156715077G>C	ENSP00000264424:p.Glu189Gln					GUCY1B3_uc011cio.1_Missense_Mutation_p.E211Q|GUCY1B3_uc011cip.1_Missense_Mutation_p.E169Q|GUCY1B3_uc003ipd.2_Missense_Mutation_p.E117Q|GUCY1B3_uc010iqf.2_Missense_Mutation_p.E189Q|GUCY1B3_uc010iqg.2_Missense_Mutation_p.E117Q|GUCY1B3_uc011ciq.1_Missense_Mutation_p.E117Q	p.E189Q	NM_000857	NP_000848	Q02153	GCYB1_HUMAN		COAD - Colon adenocarcinoma(41;0.148)	6	732	+	all_hematologic(180;0.24)	Renal(120;0.0854)	189					B7Z426|Q86WY5	Missense_Mutation	SNP	ENST00000264424.8	37	c.565G>C	CCDS47154.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.742614	0.49151	.	.	ENSG00000061918	ENST00000505154;ENST00000502959;ENST00000505764;ENST00000507146;ENST00000264424;ENST00000503520;ENST00000513437	D;D;D;T;D;T;D	0.83250	-1.69;-1.7;-1.7;-1.31;-1.7;-1.19;-1.69	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.71617	0.3361	N	0.12182	0.205	0.58432	D	0.999999	B;B;B;B;B	0.20887	0.029;0.016;0.017;0.049;0.006	B;B;B;B;B	0.17098	0.008;0.013;0.017;0.017;0.008	T	0.65730	-0.6097	10	0.13853	T	0.58	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	169;211;121;189;189	B7Z426;E9PCN2;D6RC99;Q02153-2;Q02153	.;.;.;.;GCYB1_HUMAN	Q	121;211;169;121;189;189;121	ENSP00000427226:E121Q;ENSP00000426786:E211Q;ENSP00000426319:E169Q;ENSP00000422313:E121Q;ENSP00000264424:E189Q;ENSP00000420842:E189Q;ENSP00000425065:E121Q	ENSP00000264424:E189Q	E	+	1	0	GUCY1B3	156934527	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.861000	0.98227	0.655000	0.94253	GAG		0.333	GUCY1B3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365770.2				5	53	0	0	0	0.014758	0	5	53		
FAT1	2195	broad.mit.edu	37	4	187541654	187541654	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr4:187541654G>T	ENST00000441802.2	-	10	6295	c.6086C>A	c.(6085-6087)tCa>tAa	p.S2029*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2029	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S2029*(1)|p.S2032*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAGAACTCCTGAAGTGCGGCT	0.463										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(6085-6087)TCA>TAA		FAT tumor suppressor 1 precursor							202.0	200.0	201.0					4																	187541654		1921	4124	6045	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187541654G>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6086C>A	4.37:g.187541654G>T	ENSP00000406229:p.Ser2029*	HNSCC(5;0.00058)					p.S2029*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	6274	-			2029			Extracellular (Potential).|Cadherin 18.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.6086C>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	45	11.799066	0.99604	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.569	0.91128	0.0:0.0:1.0:0.0	.	.	.	.	X	2029;2031	.	ENSP00000260147:S2031X	S	-	2	0	FAT1	187778648	1.000000	0.71417	0.097000	0.21041	0.196000	0.23810	9.657000	0.98554	2.623000	0.88846	0.561000	0.74099	TCA		0.463	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3		NM_005245		23	219	1	0	9.57634e-11	0.01892	1.0956e-10	23	219		
ADAMTS12	81792	broad.mit.edu	37	5	33624410	33624410	+	Missense_Mutation	SNP	C	C	T	rs201371361		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:33624410C>T	ENST00000504830.1	-	14	2404	c.2069G>A	c.(2068-2070)cGc>cAc	p.R690H	ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	690	Cys-rich.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R690H(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CACACCGCAGCGATCCTCGGT	0.502										HNSCC(64;0.19)																												uc003jia.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|large_intestine(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2068-2070)CGC>CAC		ADAM metallopeptidase with thrombospondin type 1							103.0	81.0	88.0					5																	33624410		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33624410C>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2069G>A	5.37:g.33624410C>T	ENSP00000422554:p.Arg690His	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Intron	p.R690H	NM_030955	NP_112217	P58397	ATS12_HUMAN			14	2232	-			690			Cys-rich.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2069G>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624201	0.66901	.	.	ENSG00000151388	ENST00000504830	T	0.66815	-0.23	5.87	5.87	0.94306	.	0.099482	0.64402	D	0.000001	T	0.65375	0.2685	M	0.70275	2.135	0.80722	D	1	P	0.46512	0.879	B	0.38880	0.284	T	0.71873	-0.4461	10	0.87932	D	0	.	14.1972	0.65679	0.0:0.9232:0.0:0.0768	.	690	P58397	ATS12_HUMAN	H	690	ENSP00000422554:R690H	ENSP00000422554:R690H	R	-	2	0	ADAMTS12	33660167	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.043000	0.49823	2.941000	0.99782	0.655000	0.94253	CGC		0.502	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955		5	49	0	0	0	0.014758	0	5	49		
JMY	133746	broad.mit.edu	37	5	78610358	78610358	+	Silent	SNP	T	T	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:78610358T>G	ENST00000396137.4	+	9	2805	c.2343T>G	c.(2341-2343)ccT>ccG	p.P781P	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	781	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.P427P(1)|p.P781P(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTGAACTGCCTCCCACTATAT	0.468																																						uc003kfx.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(2341-2343)CCT>CCG		junction-mediating and regulatory protein							206.0	210.0	209.0					5																	78610358		2048	4195	6243	SO:0001819	synonymous_variant	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610358T>G	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2343T>G	5.37:g.78610358T>G						JMY_uc003kfw.1_Silent_p.P427P	p.P781P	NM_152405	NP_689618	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2863	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	781			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	Silent	SNP	ENST00000396137.4	37	c.2343T>G	CCDS4047.3																																																																																				0.468	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4		NM_152405		6	103	0	0	0	0.00308	0	6	103		
RASGRF2	5924	broad.mit.edu	37	5	80390805	80390805	+	Silent	SNP	C	C	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:80390805C>A	ENST00000265080.4	+	12	1816	c.1749C>A	c.(1747-1749)atC>atA	p.I583I		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	583	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.I583I(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		TGAGTGACATCAGTCAGGTAA	0.393																																						uc003kha.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(1747-1749)ATC>ATA		Ras protein-specific guanine							62.0	65.0	64.0					5																	80390805		2203	4300	6503	SO:0001819	synonymous_variant	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80390805C>A	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1749C>A	5.37:g.80390805C>A						RASGRF2_uc011ctn.1_RNA	p.I583I	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	12	1749	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	583			PH 2.		B9EG89|Q9UK56	Silent	SNP	ENST00000265080.4	37	c.1749C>A	CCDS4052.1																																																																																				0.393	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2		NM_006909		6	37	1	0	2.0095e-06	0.02938	2.22362e-06	6	37		
TRIM36	55521	broad.mit.edu	37	5	114499268	114499268	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:114499268C>T	ENST00000282369.3	-	2	366	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	TRIM36_ENST00000515104.1_5'UTR|TRIM36_ENST00000514154.1_Intron|TRIM36_ENST00000513154.1_Missense_Mutation_p.R70Q	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	82					acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R82Q(1)		breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GAGCCGAAGTCGAGGACTGCT	0.448																																						uc003kqs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|lung(2)|breast(2)	8						c.(244-246)CGA>CAA		tripartite motif-containing 36 isoform 1							137.0	129.0	131.0					5																	114499268		2202	4300	6502	SO:0001583	missense	55521					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding	g.chr5:114499268C>T	AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.245G>A	5.37:g.114499268C>T	ENSP00000282369:p.Arg82Gln					TRIM36_uc011cwc.1_Missense_Mutation_p.R70Q|TRIM36_uc003kqt.2_Intron	p.R82Q	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)	2	754	-		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)	82			RING-type; degenerate.		A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Missense_Mutation	SNP	ENST00000282369.3	37	c.245G>A	CCDS4115.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779456	0.70107	.	.	ENSG00000152503	ENST00000282369;ENST00000513154;ENST00000508894	T;T;T	0.55760	0.5;0.62;0.89	5.31	5.31	0.75309	Zinc finger, RING-type (2);	0.000000	0.64402	D	0.000001	T	0.69052	0.3068	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.988	T	0.63301	-0.6668	10	0.10902	T	0.67	.	18.9679	0.92704	0.0:1.0:0.0:0.0	.	70;82	E9PFI8;Q9NQ86	.;TRI36_HUMAN	Q	82;70;70	ENSP00000282369:R82Q;ENSP00000423934:R70Q;ENSP00000424743:R70Q	ENSP00000282369:R82Q	R	-	2	0	TRIM36	114527167	1.000000	0.71417	0.932000	0.37286	0.999000	0.98932	5.646000	0.67916	2.468000	0.83385	0.655000	0.94253	CGA		0.448	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250854.2		NM_018700		5	63	0	0	0	0.014758	0	5	63		
SLC12A2	6558	broad.mit.edu	37	5	127484463	127484463	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:127484463C>T	ENST00000262461.2	+	12	2088	c.1899C>T	c.(1897-1899)aaC>aaT	p.N633N	SLC12A2_ENST00000343225.4_Silent_p.N633N	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	633					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)	p.N633N(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GTAAGGACAACATCTACCCAG	0.328																																						uc003kus.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)	3						c.(1897-1899)AAC>AAT		solute carrier family 12	Bumetanide(DB00887)|Potassium Chloride(DB00761)						151.0	151.0	151.0					5																	127484463		2203	4298	6501	SO:0001819	synonymous_variant	6558				potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity	g.chr5:127484463C>T		CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.1899C>T	5.37:g.127484463C>T						SLC12A2_uc010jdf.2_RNA|SLC12A2_uc010jdg.2_Silent_p.N633N	p.N633N	NM_001046	NP_001037	P55011	S12A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	12	2063	+		all_cancers(142;0.0972)|Prostate(80;0.151)	633			Cytoplasmic (Potential).		Q8N713|Q8WWH7	Silent	SNP	ENST00000262461.2	37	c.1899C>T	CCDS4144.1																																																																																				0.328	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250972.1		NM_001046		10	112	0	0	0	0.006214	0	10	112		
KDM3B	51780	broad.mit.edu	37	5	137756428	137756428	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:137756428A>G	ENST00000314358.5	+	15	3949	c.3749A>G	c.(3748-3750)gAg>gGg	p.E1250G	KDM3B_ENST00000508386.1_3'UTR|KDM3B_ENST00000542866.1_Missense_Mutation_p.E282G|KDM3B_ENST00000394866.1_Missense_Mutation_p.E906G	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1250					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.E1250G(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTCAATAAAGAGTCTCATTCA	0.483																																						uc003lcy.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(3748-3750)GAG>GGG		jumonji domain containing 1B							111.0	110.0	110.0					5																	137756428		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137756428A>G	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3749A>G	5.37:g.137756428A>G	ENSP00000326563:p.Glu1250Gly					KDM3B_uc010jew.1_Missense_Mutation_p.E906G|KDM3B_uc011cys.1_Missense_Mutation_p.E282G	p.E1250G	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			15	3949	+			1250					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.3749A>G	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.699062	0.88830	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.72942	-0.13;-0.7;-0.63	5.88	5.88	0.94601	.	0.043711	0.85682	D	0.000000	T	0.76428	0.3986	L	0.44542	1.39	0.80722	D	1	D;B	0.58268	0.982;0.063	P;B	0.58077	0.832;0.074	T	0.77016	-0.2744	10	0.49607	T	0.09	-13.257	16.268	0.82600	1.0:0.0:0.0:0.0	.	906;1250	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	G	1250;1040;906;282	ENSP00000326563:E1250G;ENSP00000378335:E906G;ENSP00000439462:E282G	ENSP00000326563:E1250G	E	+	2	0	KDM3B	137784327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.720000	0.91442	2.240000	0.73641	0.533000	0.62120	GAG		0.483	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1		NM_016604		10	66	0	0	0	0.010729	0	10	66		
PCDHB2	56133	broad.mit.edu	37	5	140475832	140475832	+	Silent	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:140475832C>G	ENST00000194155.4	+	1	1606	c.1458C>G	c.(1456-1458)gcC>gcG	p.A486A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	486	Cadherin 5. {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)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A486A(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACCAACGCCCAGGTCACCT	0.662																																						uc003lil.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(1456-1458)GCC>GCG		protocadherin beta 2 precursor							53.0	59.0	57.0					5																	140475832		2202	4275	6477	SO:0001819	synonymous_variant	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475832C>G	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1458C>G	5.37:g.140475832C>G						PCDHB2_uc003lim.1_Silent_p.A147A	p.A486A	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1596	+			486			Extracellular (Potential).|Cadherin 5.		Q4KMU1	Silent	SNP	ENST00000194155.4	37	c.1458C>G	CCDS4244.1																																																																																				0.662	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2		NM_018936		6	111	0	0	0	0.013537	0	6	111		
C5orf58	133874	broad.mit.edu	37	5	169661182	169661182	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:169661182G>A	ENST00000521850.1	+	1	1732	c.43G>A	c.(43-45)Gag>Aag	p.E15K	C5orf58_ENST00000593851.1_Missense_Mutation_p.E15K|C5orf58_ENST00000517575.1_Intron			C9J3I9	CE058_HUMAN	chromosome 5 open reading frame 58	15								p.E15K(1)		large_intestine(1)|lung(4)|urinary_tract(1)	6						GGAAAAGGTAGAGGCAAGGAT	0.393																																						uc010jjn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(43-45)GAG>AAG		hypothetical protein LOC133874							124.0	121.0	122.0					5																	169661182		1877	4112	5989	SO:0001583	missense	133874							g.chr5:169661182G>A	BC030767	CCDS47338.1	5q35.1	2009-09-30			ENSG00000234511	ENSG00000234511			37272	protein-coding gene	gene with protein product							Standard	NM_001102609		Approved		uc010jjn.3	C9J3I9	OTTHUMG00000163122	ENST00000521850.1:c.43G>A	5.37:g.169661182G>A	ENSP00000428956:p.Glu15Lys					C5orf58_uc003mal.2_RNA	p.E15K	NM_001102609	NP_001096079	C9J3I9	CE058_HUMAN			2	126	+			15						Missense_Mutation	SNP	ENST00000521850.1	37	c.43G>A	CCDS47338.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.385568	0.25031	.	.	ENSG00000234511	ENST00000521850	.	.	.	3.76	1.82	0.25136	.	.	.	.	.	T	0.19967	0.0480	N	0.14661	0.345	0.09310	N	1	B	0.20550	0.046	B	0.17722	0.019	T	0.20806	-1.0264	8	0.87932	D	0	.	5.0412	0.14460	0.2952:0.0:0.7048:0.0	.	15	C9J3I9	CE058_HUMAN	K	15	.	ENSP00000428956:E15K	E	+	1	0	C5orf58	169593760	0.003000	0.15002	0.001000	0.08648	0.004000	0.04260	0.221000	0.17680	0.483000	0.27608	0.655000	0.94253	GAG		0.393	C5orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371739.1		NM_001102609		3	28	0	0	0	0.004672	0	3	28		
ZNF346	23567	broad.mit.edu	37	5	176468221	176468221	+	Silent	SNP	A	A	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr5:176468221A>T	ENST00000358149.3	+	2	313	c.270A>T	c.(268-270)gcA>gcT	p.A90A	ZNF346_ENST00000503039.1_Silent_p.A115A|ZNF346_ENST00000511834.1_Silent_p.A90A|ZNF346_ENST00000512315.1_Intron|ZNF346_ENST00000506693.1_Intron|ZNF346_ENST00000503425.1_Silent_p.A90A|ZNF346_ENST00000261948.4_Silent_p.A115A	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	90					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A90A(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAAGCTGGCACATTACCAGG	0.458																																						uc003mfi.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(268-270)GCA>GCT		zinc finger protein 346							189.0	173.0	179.0					5																	176468221		2203	4300	6503	SO:0001819	synonymous_variant	23567					cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding	g.chr5:176468221A>T	AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.270A>T	5.37:g.176468221A>T						ZNF346_uc011dfr.1_Silent_p.A90A|ZNF346_uc011dfs.1_Intron|ZNF346_uc003mfj.2_Intron|ZNF346_uc003mfk.1_Silent_p.A115A|ZNF346_uc011dft.1_Intron	p.A90A	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	313	+	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	90			Matrin-type 1.		B7Z367|Q68CV9|Q6ZMW1	Silent	SNP	ENST00000358149.3	37	c.270A>T	CCDS4409.1																																																																																				0.458	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2		NM_012279		12	110	0	0	0	0.010729	0	12	110		
HIVEP1	3096	broad.mit.edu	37	6	12125108	12125108	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:12125108C>T	ENST00000379388.2	+	4	5412	c.5080C>T	c.(5080-5082)Cag>Tag	p.Q1694*	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1694					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q1694*(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAAAGGTCATCAGAATGCTTT	0.393																																						uc003nac.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(5080-5082)CAG>TAG		human immunodeficiency virus type I enhancer							84.0	79.0	80.0					6																	12125108		1849	4098	5947	SO:0001587	stop_gained	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12125108C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.5080C>T	6.37:g.12125108C>T	ENSP00000368698:p.Gln1694*					HIVEP1_uc011diq.1_RNA	p.Q1694*	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	5259	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1694					B2RTU3|Q14122|Q5MPB1|Q5VW60	Nonsense_Mutation	SNP	ENST00000379388.2	37	c.5080C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	45	11.321840	0.99546	.	.	ENSG00000095951	ENST00000379388	.	.	.	5.54	5.54	0.83059	.	0.279281	0.19203	N	0.120127	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.4122	15.8302	0.78743	0.1363:0.8637:0.0:0.0	.	.	.	.	X	1694	.	.	Q	+	1	0	HIVEP1	12233094	0.041000	0.20044	0.017000	0.16124	0.049000	0.14656	1.687000	0.37680	2.595000	0.87683	0.561000	0.74099	CAG		0.393	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2		NM_002114		16	93	0	0	0	0.028581	0	16	93		
GPLD1	2822	broad.mit.edu	37	6	24472819	24472819	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:24472819G>A	ENST00000230036.1	-	7	646	c.536C>T	c.(535-537)gCa>gTa	p.A179V	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	179					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)	p.A179V(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						CCAGCGTCGTGCAAGGTAATT	0.338																																						uc003ned.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|kidney(1)	3						c.(535-537)GCA>GTA		glycosylphosphatidylinositol specific							115.0	108.0	110.0					6																	24472819		2203	4300	6503	SO:0001583	missense	2822					extracellular region	glycosylphosphatidylinositol phospholipase D activity	g.chr6:24472819G>A	L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.536C>T	6.37:g.24472819G>A	ENSP00000230036:p.Ala179Val					GPLD1_uc010jpr.1_Intron|GPLD1_uc010jps.1_Missense_Mutation_p.A179V	p.A179V	NM_001503	NP_001494	P80108	PHLD_HUMAN			7	647	-			179					Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Missense_Mutation	SNP	ENST00000230036.1	37	c.536C>T	CCDS4553.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983886	0.53827	.	.	ENSG00000112293	ENST00000230036	T	0.65732	-0.17	5.66	4.75	0.60458	.	0.823376	0.10869	N	0.625168	T	0.44329	0.1288	L	0.34521	1.04	0.09310	N	0.999998	P	0.38223	0.623	B	0.43386	0.418	T	0.40515	-0.9559	10	0.30078	T	0.28	-1.5885	15.4559	0.75314	0.0:0.1515:0.8485:0.0	.	179	P80108	PHLD_HUMAN	V	179	ENSP00000230036:A179V	ENSP00000230036:A179V	A	-	2	0	GPLD1	24580798	0.009000	0.17119	0.167000	0.22817	0.990000	0.78478	1.587000	0.36622	2.672000	0.90937	0.655000	0.94253	GCA		0.338	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043315.1		NM_001503		9	78	0	0	0	0.013537	0	9	78		
GRM4	2914	broad.mit.edu	37	6	34003916	34003916	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:34003916G>C	ENST00000538487.2	-	9	2414	c.1971C>G	c.(1969-1971)atC>atG	p.I657M	GRM4_ENST00000609222.1_Missense_Mutation_p.I524M|GRM4_ENST00000544773.2_Missense_Mutation_p.I488M|GRM4_ENST00000374181.4_Missense_Mutation_p.I657M|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000535756.1_Missense_Mutation_p.I524M|GRM4_ENST00000374177.3_Missense_Mutation_p.I541M|GRM4_ENST00000455714.2_Missense_Mutation_p.I517M	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	657					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.I657M(2)|p.I541M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						GTCCCAGGAAGATTCGGCGCA	0.602																																						uc003oir.3		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6						c.(1969-1971)ATC>ATG		glutamate receptor, metabotropic 4 precursor	L-Glutamic Acid(DB00142)						106.0	100.0	102.0					6																	34003916		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003916G>C	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.1971C>G	6.37:g.34003916G>C	ENSP00000440556:p.Ile657Met					GRM4_uc011dsn.1_Missense_Mutation_p.I610M|GRM4_uc010jvh.2_Missense_Mutation_p.I657M|GRM4_uc010jvi.2_Missense_Mutation_p.I349M|GRM4_uc003oio.2_Missense_Mutation_p.I349M|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Missense_Mutation_p.I517M|GRM4_uc003oiq.2_Missense_Mutation_p.I524M|GRM4_uc011dsm.1_Missense_Mutation_p.I488M	p.I657M	NM_000841	NP_000832	Q14833	GRM4_HUMAN			8	2141	-			657			Helical; Name=3; (Potential).		B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.1971C>G	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894487	0.52121	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	4.89	4.89	0.63831	GPCR, family 3, C-terminal (2);	0.170906	0.52532	D	0.000076	D	0.85004	0.5598	L	0.29908	0.895	0.48571	D	0.999672	B;P;D;D;D	0.57571	0.367;0.841;0.98;0.966;0.957	B;P;P;P;P	0.60286	0.232;0.821;0.788;0.622;0.872	D	0.86996	0.2113	10	0.62326	D	0.03	.	13.596	0.61991	0.0:0.1558:0.8442:0.0	.	610;488;517;657;524	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	M	657;541;349;524;488;657;517	ENSP00000363296:I657M;ENSP00000363292:I541M;ENSP00000445533:I349M;ENSP00000437925:I524M;ENSP00000437730:I488M;ENSP00000440556:I657M;ENSP00000398456:I517M	ENSP00000363292:I541M	I	-	3	3	GRM4	34111894	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.969000	0.49232	2.539000	0.85634	0.462000	0.41574	ATC		0.602	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2				5	43	0	0	0	0.014758	0	5	43		
TEAD3	7005	broad.mit.edu	37	6	35454253	35454253	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:35454253C>G	ENST00000338863.7	-	2	414	c.187G>C	c.(187-189)Gag>Cag	p.E63Q	TEAD3_ENST00000402886.3_Silent_p.T45T	NM_003214.3	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	63					female pregnancy (GO:0007565)|gene expression (GO:0010467)|hippo signaling (GO:0035329)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E63Q(1)|p.E79Q(1)		central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						ATCTTGCCCTCGTCTGACAGG	0.697																																						uc003oku.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(187-189)GAG>CAG		TEA domain family member 3							32.0	39.0	37.0					6																	35454253		2187	4293	6480	SO:0001583	missense	7005				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:35454253C>G	X94439	CCDS47414.1	6p21.2	2008-07-28			ENSG00000007866	ENSG00000007866			11716	protein-coding gene	gene with protein product		603170		TEAD5		9889009, 9148898	Standard	NM_003214		Approved	TEF-5, ETFR-1	uc003oku.4	Q99594	OTTHUMG00000014571	ENST00000338863.7:c.187G>C	6.37:g.35454253C>G	ENSP00000345772:p.Glu63Gln					TEAD3_uc010jvx.2_Silent_p.T45T	p.E63Q	NM_003214	NP_003205	Q99594	TEAD3_HUMAN			2	423	-			63			TEA.		O95910|Q5BJG7|Q8N6Y4	Missense_Mutation	SNP	ENST00000338863.7	37	c.187G>C	CCDS47414.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.195561	0.78902	.	.	ENSG00000007866	ENST00000338863;ENST00000373905	T	0.35973	1.28	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.67468	0.2896	H	0.94345	3.525	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.77656	-0.2506	10	0.87932	D	0	-28.6142	18.0624	0.89381	0.0:1.0:0.0:0.0	.	79	Q7Z6V0	.	Q	63;79	ENSP00000345772:E63Q	ENSP00000345772:E63Q	E	-	1	0	TEAD3	35562231	1.000000	0.71417	1.000000	0.80357	0.245000	0.25701	7.809000	0.86057	2.590000	0.87494	0.450000	0.29827	GAG		0.697	TEAD3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040298.2				5	40	0	0	0	0.014758	0	5	40		
BRPF3	27154	broad.mit.edu	37	6	36168658	36168658	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:36168658C>T	ENST00000357641.6	+	2	812	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	BRPF3_ENST00000534400.1_Silent_p.L187L|BRPF3_ENST00000339717.7_Silent_p.L187L|BRPF3_ENST00000534694.1_Silent_p.L187L|BRPF3_ENST00000543502.1_Silent_p.L187L|BRPF3_ENST00000443324.2_Silent_p.L187L	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	187					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.L187L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CTTTGAGCTGCTGGTAGACCG	0.527																																						uc003olv.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(559-561)CTG>TTG		bromodomain and PHD finger containing, 3							109.0	101.0	104.0					6																	36168658		2203	4300	6503	SO:0001819	synonymous_variant	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36168658C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.559C>T	6.37:g.36168658C>T						BRPF3_uc010jwb.2_Silent_p.L187L|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Silent_p.L187L	p.L187L	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN			2	783	+			187					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Silent	SNP	ENST00000357641.6	37	c.559C>T	CCDS34437.1																																																																																				0.527	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3		NM_015695		4	55	0	0	0	0.014758	0	4	55		
PRPH2	5961	broad.mit.edu	37	6	42672298	42672298	+	Silent	SNP	G	G	A	rs61755799		TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:42672298G>A	ENST00000230381.5	-	2	872	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	211			F -> L (in RP7).		cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.F211F(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TGCAGCAGCTGAAAGGGACGC	0.562																																						uc003osk.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|central_nervous_system(1)	5	GRCh37	CM951119	PRPH2	M	rs61755799	c.(631-633)TTC>TTT		peripherin 2							157.0	118.0	132.0					6																	42672298		2203	4300	6503	SO:0001819	synonymous_variant	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42672298G>A		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.633C>T	6.37:g.42672298G>A							p.F211F	NM_000322	NP_000313	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		2	919	-	Colorectal(47;0.196)		211		F -> L (in RP7).	Lumenal (Potential).		Q5TFH5|Q6DK65	Silent	SNP	ENST00000230381.5	37	c.633C>T	CCDS4871.1																																																																																				0.562	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1		NM_000322		5	51	0	0	0	0.014758	0	5	51		
GPR116	221395	broad.mit.edu	37	6	46849233	46849233	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:46849233G>A	ENST00000283296.7	-	8	1061	c.773C>T	c.(772-774)aCc>aTc	p.T258I	GPR116_ENST00000362015.4_Missense_Mutation_p.T258I|GPR116_ENST00000265417.7_Missense_Mutation_p.T258I|GPR116_ENST00000456426.2_Missense_Mutation_p.T258I	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	258	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T258I(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CATTTTGTAGGTCTGATTGAG	0.368																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|skin(1)	2						c.(772-774)ACC>ATC		G-protein coupled receptor 116 precursor							384.0	300.0	328.0					6																	46849233		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46849233G>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.773C>T	6.37:g.46849233G>A	ENSP00000283296:p.Thr258Ile					GPR116_uc003oyp.3_Missense_Mutation_p.T258I|GPR116_uc003oyq.3_Missense_Mutation_p.T258I|GPR116_uc010jzi.1_5'Flank|GPR116_uc003oyr.2_Missense_Mutation_p.T258I	p.T258I	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		8	1062	-			258			SEA.|Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.773C>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060992	0.55432	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.97	5.09	0.68999	SEA (2);	0.091738	0.47852	D	0.000218	T	0.51278	0.1665	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74674	0.975;0.984;0.975	T	0.57004	-0.7885	10	0.56958	D	0.05	-15.2228	12.5111	0.56005	0.0:0.0:0.8331:0.1669	.	258;258;258	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	I	258	ENSP00000283296:T258I;ENSP00000354563:T258I;ENSP00000412866:T258I;ENSP00000265417:T258I	ENSP00000265417:T258I	T	-	2	0	GPR116	46957192	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.413000	0.59795	1.511000	0.48818	0.591000	0.81541	ACC		0.368	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2		NM_015234		5	66	0	0	0	0.014758	0	5	66		
DST	667	broad.mit.edu	37	6	56401661	56401661	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:56401661C>T	ENST00000361203.3	-	58	16060	c.16053G>A	c.(16051-16053)caG>caA	p.Q5351Q	DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Silent_p.Q2939Q|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Silent_p.Q5027Q|DST_ENST00000370788.2_Silent_p.Q3265Q|DST_ENST00000370769.4_Silent_p.Q5353Q|DST_ENST00000421834.2_Silent_p.Q3265Q|DST_ENST00000370754.5_Silent_p.Q5531Q			Q03001	DYST_HUMAN	dystonin	5351					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.Q5353Q(1)|p.Q2939Q(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGGCAGCACTCTGAATAAGGC	0.433																																						uc003pdf.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(10327-10329)CAG>CAA		dystonin isoform 2							138.0	139.0	139.0					6																	56401661		2001	4187	6188	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56401661C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.16053G>A	6.37:g.56401661C>T						DST_uc003pcz.3_Silent_p.Q3265Q|DST_uc011dxj.1_Silent_p.Q3294Q|DST_uc011dxk.1_Silent_p.Q3305Q|DST_uc003pcy.3_Silent_p.Q2939Q	p.Q3443Q	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		56	10357	-	Lung NSC(77;0.103)		5351			Spectrin 7.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.10329G>A																																																																																					0.433	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723		5	62	0	0	0	0.014758	0	5	62		
AK9	221264	broad.mit.edu	37	6	109996891	109996891	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:109996891C>T	ENST00000424296.2	-	2	134	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	AK9_ENST00000341338.6_5'UTR|AK9_ENST00000368948.2_Missense_Mutation_p.E20K|AK9_ENST00000285397.5_Missense_Mutation_p.E20K	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	20					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.E20K(2)									CTTTCAGTTTCATCTTCATCA	0.289																																						uc003ptn.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(58-60)GAA>AAA		adenylate kinase domain containing 1 isoform 1							57.0	59.0	59.0					6																	109996891		2203	4298	6501	SO:0001583	missense	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109996891C>T	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.58G>A	6.37:g.109996891C>T	ENSP00000410186:p.Glu20Lys					AKD1_uc003ptr.3_Missense_Mutation_p.E20K|AKD1_uc003pts.1_RNA	p.E20K	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			2	135	-			20					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.58G>A	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159573	0.94686	.	.	ENSG00000155085	ENST00000424296;ENST00000368948;ENST00000285397;ENST00000532976	T;T;T;T	0.67865	-0.29;-0.23;-0.12;-0.15	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.71221	0.3314	M	0.63843	1.955	0.80722	D	1	D;D	0.63880	0.99;0.993	P;P	0.57911	0.814;0.829	T	0.70410	-0.4879	9	.	.	.	-32.7724	17.768	0.88484	0.0:1.0:0.0:0.0	.	20;20	Q5TCS8-2;Q5TCS8	.;AKD1_HUMAN	K	20	ENSP00000410186:E20K;ENSP00000357944:E20K;ENSP00000285397:E20K;ENSP00000436325:E20K	.	E	-	1	0	AKD1	110103584	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.818000	0.62657	2.567000	0.86603	0.591000	0.81541	GAA		0.289	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001145128		4	27	0	0	0	0.009096	0	4	27		
TSPYL1	7259	broad.mit.edu	37	6	116600201	116600201	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:116600201G>C	ENST00000368608.3	-	1	865	c.793C>G	c.(793-795)Ctg>Gtg	p.L265V	RP1-93H18.1_ENST00000449314.1_lincRNA|DSE_ENST00000452085.3_5'Flank|DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	265					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.L265V(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		CTCCGCTCCAGGTAGTGTCGA	0.562																																						uc003pwp.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(793-795)CTG>GTG		TSPY-like 1							124.0	119.0	121.0					6																	116600201		2203	4300	6503	SO:0001583	missense	7259				nucleosome assembly	nucleolus		g.chr6:116600201G>C	AF042181	CCDS34518.1	6q22.1	2014-09-17	2004-04-05	2004-04-07	ENSG00000189241	ENSG00000189241			12382	protein-coding gene	gene with protein product		604714	"""TSPY-like"""	TSPYL		9730615	Standard	NM_003309		Approved		uc003pwp.4	Q9H0U9	OTTHUMG00000015427	ENST00000368608.3:c.793C>G	6.37:g.116600201G>C	ENSP00000357597:p.Leu265Val					DSE_uc011ebf.1_Intron|DSE_uc003pwq.1_5'Flank|DSE_uc003pwr.2_5'Flank|DSE_uc003pws.2_5'Flank	p.L265V	NM_003309	NP_003300	Q9H0U9	TSYL1_HUMAN		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)	1	1080	-		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)	265					O75885|Q5TFE6	Missense_Mutation	SNP	ENST00000368608.3	37	c.793C>G	CCDS34518.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961894	0.74016	.	.	ENSG00000189241	ENST00000368608	T	0.26660	1.72	4.21	4.21	0.49690	.	0.000000	0.27249	N	0.020236	T	0.32526	0.0832	M	0.83953	2.67	0.37917	D	0.93156	P	0.41597	0.756	P	0.48704	0.587	T	0.21827	-1.0234	10	0.72032	D	0.01	-13.9744	12.3564	0.55178	0.0:0.0:1.0:0.0	.	265	Q9H0U9	TSYL1_HUMAN	V	265	ENSP00000357597:L265V	ENSP00000357597:L265V	L	-	1	2	TSPYL1	116706894	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.878000	0.48515	2.631000	0.89168	0.462000	0.41574	CTG		0.562	TSPYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041929.1				8	84	0	0	0	0.00308	0	8	84		
MAP3K5	4217	broad.mit.edu	37	6	136904781	136904781	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr6:136904781G>A	ENST00000359015.4	-	24	3683	c.3323C>T	c.(3322-3324)aCc>aTc	p.T1108I	MAP3K5_ENST00000463140.1_5'UTR|MAP3K5_ENST00000355845.4_Missense_Mutation_p.T355I	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1108					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)	p.T1108I(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TGACAGTGTGGTGGCTATGAT	0.463																																						uc003qhc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)|lung(1)	5						c.(3322-3324)ACC>ATC		mitogen-activated protein kinase kinase kinase							158.0	137.0	144.0					6																	136904781		2203	4300	6503	SO:0001583	missense	4217				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	g.chr6:136904781G>A	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3323C>T	6.37:g.136904781G>A	ENSP00000351908:p.Thr1108Ile					MAP3K5_uc011edj.1_Missense_Mutation_p.T355I|MAP3K5_uc011edk.1_Missense_Mutation_p.T954I	p.T1108I	NM_005923	NP_005914	Q99683	M3K5_HUMAN		GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)	24	3684	-	Colorectal(23;0.24)		1108					A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	ENST00000359015.4	37	c.3323C>T	CCDS5179.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.047328	0.55110	.	.	ENSG00000197442	ENST00000359015;ENST00000355845;ENST00000367768	T;T	0.71817	-0.44;-0.6	5.93	4.13	0.48395	.	0.193177	0.53938	D	0.000047	T	0.63640	0.2528	M	0.66939	2.045	0.32078	N	0.593506	P;B	0.48016	0.904;0.177	P;B	0.49597	0.616;0.091	T	0.63821	-0.6550	10	0.42905	T	0.14	.	12.3726	0.55263	0.0:0.2405:0.6347:0.1248	.	1189;1108	Q59GL6;Q99683	.;M3K5_HUMAN	I	1108;355;1188	ENSP00000351908:T1108I;ENSP00000348104:T355I	ENSP00000348104:T355I	T	-	2	0	MAP3K5	136946474	1.000000	0.71417	0.997000	0.53966	0.782000	0.44232	1.666000	0.37460	0.814000	0.34374	0.655000	0.94253	ACC		0.463	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042383.1				8	67	0	0	0	0.00308	0	8	67		
GET4	51608	broad.mit.edu	37	7	926266	926266	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr7:926266G>A	ENST00000265857.3	+	3	389	c.295G>A	c.(295-297)Gag>Aag	p.E99K	GET4_ENST00000407192.1_Missense_Mutation_p.E46K|RP11-449P15.2_ENST00000609998.1_RNA	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	99					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)		p.E99K(1)		breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GGCGGAAGTGGAGGTGGCTGA	0.597																																						uc003sjl.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(295-297)GAG>AAG		hypothetical protein LOC51608							122.0	119.0	120.0					7																	926266		2202	4300	6502	SO:0001583	missense	51608				tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding	g.chr7:926266G>A	AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"""CGI-20 protein"", ""conserved edge protein"", ""transmembrane domain recognition complex, 35kDa"""	612056	"""chromosome 7 open reading frame 20"""	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.295G>A	7.37:g.926266G>A	ENSP00000265857:p.Glu99Lys					GET4_uc003sjj.1_RNA	p.E99K	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN			3	387	+			99					A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Missense_Mutation	SNP	ENST00000265857.3	37	c.295G>A	CCDS5317.1	.	.	.	.	.	.	.	.	.	.	g	10.88	1.475383	0.26511	.	.	ENSG00000239857	ENST00000265857;ENST00000412734;ENST00000407192;ENST00000441491	T	0.75477	-0.94	5.58	3.49	0.39957	.	0.417391	0.31031	N	0.008390	T	0.41926	0.1180	N	0.05230	-0.09	0.38426	D	0.946319	B	0.02656	0.0	B	0.08055	0.003	T	0.40924	-0.9537	10	0.02654	T	1	-26.5785	2.5114	0.04658	0.2692:0.309:0.4218:0.0	.	99	Q7L5D6	GET4_HUMAN	K	99;53;46;111	ENSP00000265857:E99K	ENSP00000265857:E99K	E	+	1	0	GET4	892792	1.000000	0.71417	0.452000	0.26994	0.156000	0.22039	7.377000	0.79668	1.327000	0.45338	0.651000	0.88453	GAG		0.597	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000231930.1		NM_015949		15	67	0	0	0	0.028581	0	15	67		
INTS1	26173	broad.mit.edu	37	7	1513805	1513805	+	Splice_Site	SNP	A	A	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr7:1513805A>G	ENST00000404767.3	-	41	5913	c.5828T>C	c.(5827-5829)cTg>cCg	p.L1943P	INTS1_ENST00000389470.4_Splice_Site_p.L2147P	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	1943					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.L2147P(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		AGCACACACCAGCAGCAGGCG	0.706											OREG0017827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003skn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(5827-5829)CTG>CCG		integrator complex subunit 1							19.0	30.0	26.0					7																	1513805		2139	4239	6378	SO:0001630	splice_region_variant	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1513805A>G	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.5829+1T>C	7.37:g.1513805A>G			OREG0017827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	596	INTS1_uc003skm.1_Missense_Mutation_p.L80P	p.L1943P	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	41	5929	-		Ovarian(82;0.0253)	1943					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.5828T>C	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	A	6.889	0.533493	0.13188	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.67865	-0.29;-0.29	4.56	3.39	0.38822	.	0.349959	0.29486	N	0.012013	T	0.52075	0.1712	L	0.36672	1.1	0.49299	D	0.999775	B	0.26635	0.155	B	0.27608	0.081	T	0.46624	-0.9178	10	0.44086	T	0.13	.	5.8491	0.18683	0.5687:0.1491:0.0:0.2822	.	1943	Q8N201	INT1_HUMAN	P	1943;2147	ENSP00000385722:L1943P;ENSP00000374121:L2147P	ENSP00000374121:L2147P	L	-	2	0	INTS1	1480331	1.000000	0.71417	0.963000	0.40424	0.371000	0.29859	3.357000	0.52277	0.774000	0.33427	0.459000	0.35465	CTG		0.706	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			Missense_Mutation	4	13	0	0	0	0.009096	0	4	13		
CHN2	1124	broad.mit.edu	37	7	29539546	29539546	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr7:29539546T>C	ENST00000222792.6	+	9	1333	c.803T>C	c.(802-804)cTc>cCc	p.L268P	CHN2_ENST00000546235.1_Missense_Mutation_p.L253P|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000539389.1_Missense_Mutation_p.L124P|CHN2_ENST00000409041.4_Missense_Mutation_p.L132P|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000421775.2_Intron|CHN2_ENST00000495789.2_Missense_Mutation_p.L281P|CHN2_ENST00000439711.2_Missense_Mutation_p.L132P|CHN2_ENST00000539406.1_Missense_Mutation_p.L343P|CHN2_ENST00000424025.2_Missense_Mutation_p.L87P	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	268					positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.L268P(1)|p.L132P(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CAACCTGATCTCAAGAGGATC	0.468																																					Ovarian(1;44 48 13232 18918 31480)	uc003szz.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(802-804)CTC>CCC		beta chimerin isoform 2							133.0	115.0	121.0					7																	29539546		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29539546T>C	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.803T>C	7.37:g.29539546T>C	ENSP00000222792:p.Leu268Pro					CHN2_uc011jzs.1_Missense_Mutation_p.L343P|CHN2_uc010kva.2_Missense_Mutation_p.L38P|CHN2_uc010kvb.2_Intron|CHN2_uc010kvc.2_Missense_Mutation_p.L233P|CHN2_uc011jzt.1_Missense_Mutation_p.L281P|CHN2_uc010kvd.2_Missense_Mutation_p.L124P|CHN2_uc011jzu.1_Missense_Mutation_p.L253P|CHN2_uc010kvg.2_Missense_Mutation_p.L132P|CHN2_uc010kvh.2_Intron|CHN2_uc010kvi.2_Missense_Mutation_p.L132P|CHN2_uc010kve.2_Missense_Mutation_p.L132P|CHN2_uc003taa.2_Missense_Mutation_p.L132P|CHN2_uc010kvf.2_Intron|CHN2_uc010kvj.2_Missense_Mutation_p.L87P|CHN2_uc010kvk.2_Intron|CHN2_uc010kvl.2_RNA|CHN2_uc010kvm.2_Missense_Mutation_p.L87P|CHN2_uc011jzv.1_Missense_Mutation_p.L61P	p.L268P	NM_004067	NP_004058	P52757	CHIO_HUMAN			9	1240	+			268					A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.803T>C	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.885509	0.72410	.	.	ENSG00000106069	ENST00000539406;ENST00000222792;ENST00000495789;ENST00000539389;ENST00000546235;ENST00000446446;ENST00000409041;ENST00000424025;ENST00000439711	D;D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.61	5.61	0.85477	Rho GTPase-activating protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89591	0.6759	L	0.42686	1.345	0.80722	D	1	P;B;D;B;D;D;D;P;D;P;D;D;D;D	0.89917	0.76;0.409;0.999;0.181;0.999;0.999;0.999;0.551;0.999;0.76;0.998;0.997;1.0;0.998	P;B;D;B;D;D;D;B;D;P;D;D;D;D	0.85130	0.493;0.168;0.997;0.074;0.992;0.979;0.997;0.248;0.992;0.642;0.991;0.929;0.996;0.991	D	0.90548	0.4507	10	0.72032	D	0.01	.	15.758	0.78051	0.0:0.0:0.0:1.0	.	61;253;281;343;87;87;132;132;132;124;268;38;132;268	B7Z215;B7Z1W9;B7Z1V0;F5H003;B3VCF1;B3VCF2;B3VCF5;B3VCF7;B3VCF6;B3VCG1;A4D1A2;B3VCF8;E9PGE0;P52757	.;.;.;.;.;.;.;.;.;.;.;.;.;CHIO_HUMAN	P	343;268;281;124;253;93;132;87;132	ENSP00000444063:L343P;ENSP00000222792:L268P;ENSP00000438587:L281P;ENSP00000440526:L124P;ENSP00000442812:L253P;ENSP00000396867:L93P;ENSP00000386849:L132P;ENSP00000406337:L87P;ENSP00000387425:L132P	ENSP00000222792:L268P	L	+	2	0	CHN2	29506071	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.967000	0.87967	2.263000	0.75096	0.379000	0.24179	CTC		0.468	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2		NM_004067		12	46	0	0	0	0.010729	0	12	46		
AOAH	313	broad.mit.edu	37	7	36571798	36571798	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr7:36571798G>A	ENST00000258749.5	-	18	1779	c.1380C>T	c.(1378-1380)caC>caT	p.H460H	AOAH_ENST00000538464.1_Silent_p.H182H|AOAH_ENST00000431169.1_Silent_p.H460H|AOAH_ENST00000535891.1_Silent_p.H428H|AOAH_ENST00000491444.1_5'UTR	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	460					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.H460H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACATCCAGCCGTGGCAGGGGC	0.512																																						uc003tfh.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|prostate(1)	skin(1)	1						c.(1378-1380)CAC>CAT		acyloxyacyl hydrolase precursor							106.0	101.0	103.0					7																	36571798		2203	4300	6503	SO:0001819	synonymous_variant	313				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	g.chr7:36571798G>A	BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.1380C>T	7.37:g.36571798G>A						AOAH_uc010kxf.2_Silent_p.H460H|AOAH_uc011kba.1_Silent_p.H428H	p.H460H	NM_001637	NP_001628	P28039	AOAH_HUMAN			18	1781	-			460					A4D1Y5|B7Z490|Q53F13	Silent	SNP	ENST00000258749.5	37	c.1380C>T	CCDS5448.1																																																																																				0.512	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219829.2		NM_001637		7	61	0	0	0	0.00308	0	7	61		
CUX1	1523	broad.mit.edu	37	7	101845239	101845239	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr7:101845239C>G	ENST00000292535.7	+	18	2700	c.2662C>G	c.(2662-2664)Cca>Gca	p.P888A	CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.P899A|CUX1_ENST00000549414.2_Missense_Mutation_p.P866A|CUX1_ENST00000550008.2_Missense_Mutation_p.P832A|CUX1_ENST00000546411.2_Missense_Mutation_p.P786A|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P730A	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	888					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.P888A(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CGCTGAGTCCCCATACTCCCA	0.672																																						uc003uyx.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(2662-2664)CCA>GCA		cut-like homeobox 1 isoform a							91.0	88.0	89.0					7																	101845239		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101845239C>G	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2662C>G	7.37:g.101845239C>G	ENSP00000292535:p.Pro888Ala					CUX1_uc003uys.3_Missense_Mutation_p.P899A|CUX1_uc003uyt.2_Intron|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Intron|CUX1_uc003uyv.2_Intron|CUX1_uc003uyu.2_Intron	p.P888A	NM_181552	NP_853530	P39880	CUX1_HUMAN			18	2700	+			888					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.2662C>G	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235744	0.22626	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.63417	0.01;0.01;-0.01;-0.04;-0.03;-0.04	5.29	5.29	0.74685	.	0.209238	0.41001	D	0.000970	T	0.63105	0.2483	L	0.60455	1.87	0.80722	D	1	P;P	0.47191	0.826;0.891	B;P	0.45610	0.292;0.487	T	0.59815	-0.7383	10	0.11182	T	0.66	-12.5893	18.9374	0.92590	0.0:1.0:0.0:0.0	.	888;899	P39880;P39880-3	CUX1_HUMAN;.	A	899;888;866;832;786;730	ENSP00000353401:P899A;ENSP00000292535:P888A;ENSP00000446630:P866A;ENSP00000447373:P832A;ENSP00000450125:P786A;ENSP00000451558:P730A	ENSP00000292535:P888A	P	+	1	0	CUX1	101631959	1.000000	0.71417	0.531000	0.27976	0.306000	0.27790	5.173000	0.65010	2.483000	0.83821	0.655000	0.94253	CCA		0.672	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1		NM_001913		12	61	0	0	0	0.016723	0	12	61		
CAV1	857	broad.mit.edu	37	7	116166725	116166725	+	Silent	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr7:116166725C>G	ENST00000341049.2	+	2	455	c.177C>G	c.(175-177)ctC>ctG	p.L59L	CAV1_ENST00000393467.1_Silent_p.L28L|CAV1_ENST00000393470.1_Silent_p.L48L|CAV1_ENST00000393468.1_Silent_p.L28L|CAV1_ENST00000405348.1_Silent_p.L28L	NM_001753.4	NP_001744.2	Q03135	CAV1_HUMAN	caveolin 1, caveolae protein, 22kDa	59					angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|caveola assembly (GO:0070836)|caveolin-mediated endocytosis (GO:0072584)|cellular calcium ion homeostasis (GO:0006874)|cellular response to hyperoxia (GO:0071455)|cellular response to starvation (GO:0009267)|cholesterol homeostasis (GO:0042632)|cholesterol transport (GO:0030301)|cytosolic calcium ion homeostasis (GO:0051480)|inactivation of MAPK activity (GO:0000188)|lactation (GO:0007595)|leukocyte migration (GO:0050900)|lipid storage (GO:0019915)|maintenance of protein location in cell (GO:0032507)|mammary gland development (GO:0030879)|mammary gland involution (GO:0060056)|MAPK cascade (GO:0000165)|membrane depolarization (GO:0051899)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of pinocytosis (GO:0048550)|negative regulation of protein binding (GO:0032091)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|nitric oxide homeostasis (GO:0033484)|nitric oxide metabolic process (GO:0046209)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of vasoconstriction (GO:0045907)|protein homooligomerization (GO:0051260)|protein localization (GO:0008104)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of blood coagulation (GO:0030193)|regulation of fatty acid metabolic process (GO:0019217)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidase activity (GO:0052547)|regulation of smooth muscle contraction (GO:0006940)|regulation of the force of heart contraction by chemical signal (GO:0003057)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to ischemia (GO:0002931)|response to progesterone (GO:0032570)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|vasculogenesis (GO:0001570)|vasoconstriction (GO:0042310)|vesicle organization (GO:0016050)|viral process (GO:0016032)	acrosomal membrane (GO:0002080)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell cortex (GO:0005938)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cholesterol binding (GO:0015485)|enzyme binding (GO:0019899)|nitric-oxide synthase binding (GO:0050998)|patched binding (GO:0005113)|peptidase activator activity (GO:0016504)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.L59L(1)		endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		STAD - Stomach adenocarcinoma(10;0.00878)			CTAAACACCTCAACGATGACG	0.577											OREG0018273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003vif.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(175-177)CTC>CTG		caveolin 1							204.0	140.0	162.0					7																	116166725		2203	4300	6503	SO:0001819	synonymous_variant	857				blood coagulation|calcium ion transport|caveola assembly|cellular response to starvation|cholesterol homeostasis|cytosolic calcium ion homeostasis|inactivation of MAPK activity|interspecies interaction between organisms|leukocyte migration|lipid storage|maintenance of protein location in cell|mammary gland involution|membrane depolarization|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of endothelial cell proliferation|negative regulation of epithelial cell differentiation|negative regulation of nitric oxide biosynthetic process|negative regulation of peptidyl-serine phosphorylation|negative regulation of protein binding|negative regulation of transcription from RNA polymerase II promoter|nitric oxide homeostasis|nitric oxide metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of metalloenzyme activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of vasoconstriction|protein homooligomerization|receptor internalization|regulation of blood coagulation|regulation of fatty acid metabolic process|regulation of nitric-oxide synthase activity|regulation of smooth muscle contraction|response to calcium ion|response to estrogen stimulus|response to hypoxia|response to progesterone stimulus|skeletal muscle tissue development|T cell costimulation|triglyceride metabolic process|vasculogenesis|vesicle organization	apical plasma membrane|basolateral plasma membrane|caveola|caveola|cytosol|endoplasmic reticulum|endosome|Golgi membrane|lipid particle|perinuclear region of cytoplasm	cholesterol binding|nitric-oxide synthase binding|peptidase activator activity|protein binding|protein complex scaffold|receptor binding	g.chr7:116166725C>G	AF125348	CCDS5767.1, CCDS55156.1	7q31	2006-02-09	2002-08-29		ENSG00000105974	ENSG00000105974			1527	protein-coding gene	gene with protein product		601047	"""caveolin 1, caveolae protein, 22kD"""	CAV		10087206	Standard	NM_001753		Approved		uc003vif.2	Q03135	OTTHUMG00000023413	ENST00000341049.2:c.177C>G	7.37:g.116166725C>G			OREG0018273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1471	CAV1_uc010lkd.1_Silent_p.L28L|CAV1_uc010lke.1_Silent_p.L28L|CAV1_uc003vig.1_RNA|CAV1_uc003vih.2_Silent_p.L28L|CAV1_uc010lkf.1_Silent_p.L28L	p.L59L	NM_001753	NP_001744	Q03135	CAV1_HUMAN	STAD - Stomach adenocarcinoma(10;0.00878)		2	455	+	all_epithelial(6;1.42e-06)|Lung NSC(10;0.0056)|all_lung(10;0.00609)		59			Cytoplasmic (Potential).		Q9UGP1|Q9UNG1|Q9UQH6	Silent	SNP	ENST00000341049.2	37	c.177C>G	CCDS5767.1																																																																																				0.577	CAV1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059734.4		NM_001753		3	45	0	0	0	0.004672	0	3	45		
FNTA	2339	broad.mit.edu	37	8	42939973	42939973	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr8:42939973G>A	ENST00000302279.3	+	8	1160	c.966G>A	c.(964-966)atG>atA	p.M322I	FNTA_ENST00000342116.4_Missense_Mutation_p.M255I|FNTA_ENST00000529687.1_Missense_Mutation_p.M171I	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	322					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)	p.M322I(1)		cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			ATGAAGACATGCTAGAAAATC	0.358																																						uc003xps.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(964-966)ATG>ATA		farnesyltransferase, CAAX box, alpha isoform a							120.0	118.0	118.0					8																	42939973		2203	4300	6503	SO:0001583	missense	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42939973G>A	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.966G>A	8.37:g.42939973G>A	ENSP00000303423:p.Met322Ile					FNTA_uc003xpt.2_Missense_Mutation_p.M231I|FNTA_uc003xpu.2_Missense_Mutation_p.M255I|FNTA_uc003xpv.2_RNA	p.M322I	NM_002027	NP_002018	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		8	1014	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	322					A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	c.966G>A	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	G	11.80	1.745889	0.30955	.	.	ENSG00000168522	ENST00000302279;ENST00000342116	.	.	.	5.68	5.68	0.88126	Protein prenyltransferase (1);	0.258640	0.50627	D	0.000116	T	0.53158	0.1779	L	0.27053	0.805	0.39341	D	0.965585	B;B;B	0.22541	0.071;0.008;0.022	B;B;B	0.27500	0.08;0.006;0.011	T	0.49862	-0.8894	9	0.36615	T	0.2	-20.8216	17.2701	0.87098	0.0:0.0:1.0:0.0	.	255;231;322	P49354-2;A8MVX8;P49354	.;.;FNTA_HUMAN	I	322;255	.	ENSP00000303423:M322I	M	+	3	0	FNTA	43059130	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.947000	0.63583	2.678000	0.91216	0.591000	0.81541	ATG		0.358	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1		NM_002027		4	71	0	0	0	0.021553	0	4	71		
MMP16	4325	broad.mit.edu	37	8	89198769	89198769	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr8:89198769G>A	ENST00000286614.6	-	3	621	c.340C>T	c.(340-342)Cat>Tat	p.H114Y	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	114					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.H114Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	CGACGAATATGAAATTTGGAG	0.413																																						uc003yeb.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(340-342)CAT>TAT		matrix metalloproteinase 16 isoform 1							227.0	202.0	211.0					8																	89198769		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89198769G>A	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.340C>T	8.37:g.89198769G>A	ENSP00000286614:p.His114Tyr					MMP16_uc003yec.2_Missense_Mutation_p.H114Y	p.H114Y	NM_005941	NP_005932	P51512	MMP16_HUMAN			3	622	-			114					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.340C>T	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.905218	0.52333	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.16743	2.32;2.61	5.72	4.6	0.57074	Metallopeptidase, catalytic domain (1);	0.390229	0.29152	N	0.012996	T	0.20820	0.0501	L	0.58354	1.805	0.23043	N	0.998384	B;B	0.22480	0.01;0.07	B;B	0.25987	0.002;0.065	T	0.15694	-1.0428	10	0.66056	D	0.02	.	12.6869	0.56952	0.0:0.0:0.1554:0.8446	.	114;114	P51512-2;P51512	.;MMP16_HUMAN	Y	114;131	ENSP00000286614:H114Y;ENSP00000429147:H131Y	ENSP00000286614:H114Y	H	-	1	0	MMP16	89267885	1.000000	0.71417	0.970000	0.41538	0.969000	0.65631	2.559000	0.45888	1.041000	0.40125	0.585000	0.79938	CAT		0.413	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2		NM_005941		9	154	0	0	0	0.006214	0	9	154		
PKHD1L1	93035	broad.mit.edu	37	8	110457514	110457514	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr8:110457514C>T	ENST00000378402.5	+	38	5520	c.5416C>T	c.(5416-5418)Cca>Tca	p.P1806S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1806	IPT/TIG 10.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.P1808S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GACTCCTCTCCCAGTTGGACA	0.468										HNSCC(38;0.096)																												uc003yne.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(5416-5418)CCA>TCA		fibrocystin L precursor							123.0	118.0	120.0					8																	110457514		1965	4173	6138	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110457514C>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5416C>T	8.37:g.110457514C>T	ENSP00000367655:p.Pro1806Ser	HNSCC(38;0.096)					p.P1806S	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		38	5520	+			1806			Extracellular (Potential).|IPT/TIG 10.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5416C>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.911168	0.52439	.	.	ENSG00000205038	ENST00000378402	T	0.75821	-0.97	6.03	4.19	0.49359	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.199852	0.43416	D	0.000572	T	0.74809	0.3765	M	0.68952	2.095	0.30425	N	0.777758	B	0.21520	0.057	B	0.30029	0.11	T	0.73512	-0.3959	10	0.66056	D	0.02	.	14.6174	0.68558	0.0:0.7124:0.2876:0.0	.	1806	Q86WI1	PKHL1_HUMAN	S	1806	ENSP00000367655:P1806S	ENSP00000367655:P1806S	P	+	1	0	PKHD1L1	110526690	0.989000	0.36119	0.997000	0.53966	0.425000	0.31504	2.775000	0.47702	0.833000	0.34828	0.655000	0.94253	CCA		0.468	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		7	67	0	0	0	0.02938	0	7	67		
DOCK8	81704	broad.mit.edu	37	9	434792	434792	+	Silent	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr9:434792G>A	ENST00000453981.1	+	39	5008	c.4896G>A	c.(4894-4896)aaG>aaA	p.K1632K	DOCK8_ENST00000469391.1_Silent_p.K1532K|DOCK8_ENST00000382329.1_Silent_p.K1099K|DOCK8_ENST00000432829.2_Silent_p.K1564K			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1632	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.K1564K(1)|p.K1632K(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAATTGCCAAGAGTTACCAGG	0.478																																						uc003zgf.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)|central_nervous_system(3)	6						c.(4894-4896)AAG>AAA		dedicator of cytokinesis 8							65.0	60.0	62.0					9																	434792		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:434792G>A	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.4896G>A	9.37:g.434792G>A						DOCK8_uc010mgu.2_Silent_p.K934K|DOCK8_uc010mgv.2_Silent_p.K1532K|DOCK8_uc003zgk.2_Silent_p.K1090K	p.K1632K	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	39	5008	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1632			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.4896G>A	CCDS6440.2																																																																																				0.478	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5		XM_036307		5	41	0	0	0	0.014758	0	5	41		
RUSC2	9853	broad.mit.edu	37	9	35547473	35547473	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr9:35547473G>A	ENST00000455600.1	+	2	1524	c.955G>A	c.(955-957)Gcc>Acc	p.A319T		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	319						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)	p.A319T(1)		NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGACCCTGGCGCCTTCTATCT	0.567																																						uc003zww.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(955-957)GCC>ACC		RUN and SH3 domain containing 2							92.0	85.0	88.0					9																	35547473		2203	4300	6503	SO:0001583	missense	9853					cytosol		g.chr9:35547473G>A	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.955G>A	9.37:g.35547473G>A	ENSP00000393922:p.Ala319Thr					RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.A319T	p.A319T	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		2	1210	+			319					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	c.955G>A	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.884550	0.33255	.	.	ENSG00000198853	ENST00000361226;ENST00000455600;ENST00000543478	T;T	0.35789	1.29;1.29	5.61	3.58	0.41010	.	0.182139	0.47852	N	0.000215	T	0.23210	0.0561	N	0.19112	0.55	0.40002	D	0.975176	B	0.19817	0.039	B	0.10450	0.005	T	0.06607	-1.0817	10	0.48119	T	0.1	-5.2075	10.6659	0.45731	0.1656:0.0:0.8344:0.0	.	319	Q8N2Y8	RUSC2_HUMAN	T	319	ENSP00000355177:A319T;ENSP00000393922:A319T	ENSP00000355177:A319T	A	+	1	0	RUSC2	35537473	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.081000	0.64444	1.214000	0.43395	0.561000	0.74099	GCC		0.567	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1		XM_048462		7	61	0	0	0	0.00308	0	7	61		
SPATA31A6	389730	broad.mit.edu	37	9	43625185	43625185	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr9:43625185G>A	ENST00000332857.6	-	4	3530	c.3502C>T	c.(3502-3504)Cag>Tag	p.Q1168*	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1168					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.Q1168*(1)									AAAATCCACTGAAAAAATTGC	0.428																																						uc011lrb.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(3502-3504)CAG>TAG		hypothetical protein LOC389730							126.0	132.0	130.0					9																	43625185		630	1546	2176	SO:0001587	stop_gained	389730					integral to membrane		g.chr9:43625185G>A		CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3502C>T	9.37:g.43625185G>A	ENSP00000329825:p.Gln1168*						p.Q1168*	NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN			4	3531	-			1168						Nonsense_Mutation	SNP	ENST00000332857.6	37	c.3502C>T	CCDS47973.1	.	.	.	.	.	.	.	.	.	.	G	35	5.589281	0.96590	.	.	ENSG00000185775	ENST00000332857	.	.	.	2.44	1.49	0.22878	.	0.749678	0.11445	N	0.563376	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-1.5333	6.3811	0.21536	0.0:0.0:0.707:0.293	.	.	.	.	X	1168	.	ENSP00000329825:Q1168X	Q	-	1	0	FAM75A6	43565181	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.032000	0.12266	0.575000	0.29434	0.383000	0.25322	CAG		0.428	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036987.1		NM_001145196		9	186	0	0	0	0.013537	0	9	186		
C9orf3	84909	broad.mit.edu	37	9	97767884	97767884	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr9:97767884G>C	ENST00000375315.2	+	12	2101	c.2101G>C	c.(2101-2103)Gag>Cag	p.E701Q	C9orf3_ENST00000425634.2_Missense_Mutation_p.E63Q|C9orf3_ENST00000297979.5_Missense_Mutation_p.E602Q|C9orf3_ENST00000433691.2_Missense_Mutation_p.E42Q	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	701					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E602Q(1)|p.E701Q(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GGAGAAGGAAGAGGTGTTTGA	0.522																																						uc004ava.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(2101-2103)GAG>CAG		aminopeptidase O							111.0	116.0	114.0					9																	97767884		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97767884G>C	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.2101G>C	9.37:g.97767884G>C	ENSP00000364464:p.Glu701Gln					C9orf3_uc004auy.2_Missense_Mutation_p.E602Q|C9orf3_uc004auz.1_Missense_Mutation_p.E602Q|C9orf3_uc004avc.2_Missense_Mutation_p.E156Q|C9orf3_uc011luj.1_Missense_Mutation_p.E63Q|C9orf3_uc011luk.1_Missense_Mutation_p.E42Q|C9orf3_uc004avd.2_Missense_Mutation_p.E63Q|C9orf3_uc004ave.1_RNA	p.E701Q	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	12	2236	+			701					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.2101G>C	CCDS55328.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.352|9.352	1.065649|1.065649	0.20067|0.20067	.|.	.|.	ENSG00000148120|ENSG00000148120	ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313;ENST00000375316;ENST00000425634;ENST00000433691;ENST00000375314|ENST00000451893;ENST00000445181	T;T;T;T;T;T|.	0.43688|.	0.94;0.94;0.94;0.94;0.94;0.94|.	4.11|4.11	4.11|4.11	0.48088|0.48088	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);|.	1.077170|.	0.07181|.	N|.	0.854116|.	T|T	0.44095|0.44095	0.1277|0.1277	L|L	0.51422|0.51422	1.61|1.61	0.09310|0.09310	N|N	1|1	B;D;P;B;B;D|.	0.58970|.	0.268;0.984;0.729;0.001;0.232;0.974|.	B;P;P;B;B;P|.	0.57679|.	0.29;0.825;0.474;0.003;0.136;0.503|.	T|T	0.28138|0.28138	-1.0053|-1.0053	10|5	0.15066|.	T|.	0.55|.	-0.0059|-0.0059	9.7373|9.7373	0.40395|0.40395	0.1007:0.0:0.8993:0.0|0.1007:0.0:0.8993:0.0	.|.	42;63;120;701;602;602|.	B4DU39;B4DQU3;E9PF71;Q8N6M6;Q8N6M6-4;Q8N6M6-2|.	.;.;.;AMPO_HUMAN;.;.|.	Q|T	602;701;425;483;120;63;42;65|100;65	ENSP00000297979:E602Q;ENSP00000364464:E701Q;ENSP00000402171:E425Q;ENSP00000401854:E483Q;ENSP00000411815:E63Q;ENSP00000399365:E42Q|.	ENSP00000297979:E602Q|.	E|R	+|+	1|2	0|0	C9orf3|C9orf3	96807705|96807705	0.951000|0.951000	0.32395|0.32395	0.038000|0.038000	0.18304|0.18304	0.223000|0.223000	0.24884|0.24884	4.553000|4.553000	0.60753|0.60753	2.286000|2.286000	0.76751|0.76751	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.522	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_032823		8	59	0	0	0	0.00308	0	8	59		
TDRD7	23424	broad.mit.edu	37	9	100249560	100249560	+	Silent	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr9:100249560C>T	ENST00000355295.4	+	16	3317	c.3022C>T	c.(3022-3024)Cta>Tta	p.L1008L	TDRD7_ENST00000540902.1_Silent_p.L328L|TDRD7_ENST00000422139.2_Silent_p.L934L	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	1008	Interacts with CABLES1. {ECO:0000250}.|Interacts with CDK17. {ECO:0000250}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)	p.L1008L(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AGTACAGCCCCTAGTGGACAT	0.433																																						uc004axj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(3022-3024)CTA>TTA		tudor domain containing 7							137.0	125.0	129.0					9																	100249560		2203	4300	6503	SO:0001819	synonymous_variant	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100249560C>T	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.3022C>T	9.37:g.100249560C>T						TDRD7_uc011lux.1_Silent_p.L934L|TDRD7_uc011luy.1_Silent_p.L328L	p.L1008L	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN			16	3247	+		Acute lymphoblastic leukemia(62;0.158)	1008			Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity).		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Silent	SNP	ENST00000355295.4	37	c.3022C>T	CCDS6725.1																																																																																				0.433	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1		NM_014290		8	78	0	0	0	0.00308	0	8	78		
EGFL7	51162	broad.mit.edu	37	9	139563050	139563050	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr9:139563050C>G	ENST00000371699.1	+	4	1033	c.122C>G	c.(121-123)tCc>tGc	p.S41C	EGFL7_ENST00000406555.3_Missense_Mutation_p.S41C|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000308874.7_Missense_Mutation_p.S41C|EGFL7_ENST00000371698.3_Missense_Mutation_p.S41C|MIR126_ENST00000362291.1_RNA			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	41	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				angiogenesis (GO:0001525)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|negative regulation of cell migration (GO:0030336)|negative regulation of Notch signaling pathway (GO:0045746)|positive regulation of endothelial cell proliferation (GO:0001938)|vasculogenesis (GO:0001570)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)	p.S41C(1)		kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GACCCTGTCTCCGAGTCGTTC	0.677																																						uc004cid.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(121-123)TCC>TGC		EGF-like-domain, multiple 7							76.0	73.0	74.0					9																	139563050		2203	4297	6500	SO:0001583	missense	51162				angiogenesis|vasculogenesis		calcium ion binding	g.chr9:139563050C>G	AF186111	CCDS7002.1	9q34.3	2008-02-05			ENSG00000172889	ENSG00000172889			20594	protein-coding gene	gene with protein product		608582					Standard	NM_016215		Approved	ZNEU1	uc004cih.3	Q9UHF1	OTTHUMG00000020938	ENST00000371699.1:c.122C>G	9.37:g.139563050C>G	ENSP00000360764:p.Ser41Cys					EGFL7_uc004cif.2_Missense_Mutation_p.S41C|EGFL7_uc004cig.2_RNA|EGFL7_uc010nbp.2_Missense_Mutation_p.S41C|EGFL7_uc004cie.2_Missense_Mutation_p.S41C|EGFL7_uc004cih.2_Missense_Mutation_p.S41C|MIR126_hsa-mir-126|MI0000471_5'Flank	p.S41C	NM_201446	NP_958854	Q9UHF1	EGFL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	4	1033	+	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)	41			EMI.		B3KRP0|M9VTX9|Q5M7Y5|Q5VUD5|Q96EG0	Missense_Mutation	SNP	ENST00000371699.1	37	c.122C>G	CCDS7002.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.252774	0.80135	.	.	ENSG00000172889	ENST00000371699;ENST00000308874;ENST00000406555;ENST00000371698	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	4.16	4.16	0.48862	EMI domain (2);	0.218656	0.46442	D	0.000281	T	0.48466	0.1501	L	0.44542	1.39	0.19775	N	0.999955	P	0.42203	0.773	P	0.50791	0.65	T	0.45056	-0.9287	10	0.56958	D	0.05	-26.1137	15.6067	0.76679	0.0:1.0:0.0:0.0	.	41	Q9UHF1	EGFL7_HUMAN	C	41	ENSP00000360764:S41C;ENSP00000307843:S41C;ENSP00000385639:S41C;ENSP00000360763:S41C	ENSP00000307843:S41C	S	+	2	0	EGFL7	138682871	0.002000	0.14202	0.072000	0.20136	0.024000	0.10985	0.729000	0.26028	2.117000	0.64856	0.462000	0.41574	TCC		0.677	EGFL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055094.1		NM_016215		11	97	0	0	0	0.008291	0	11	97		
IL1RAPL2	26280	broad.mit.edu	37	X	104478538	104478538	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:104478538G>C	ENST00000372582.1	+	4	1149	c.393G>C	c.(391-393)ttG>ttC	p.L131F	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L131F	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	131	Ig-like C2-type 1.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.L131F(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAATGTCCTTGACTGTTGCAG	0.393																																						uc004elz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|ovary(1)	3						c.(391-393)TTG>TTC		interleukin 1 receptor accessory protein-like 2							134.0	128.0	130.0					X																	104478538		2203	4299	6502	SO:0001583	missense	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:104478538G>C	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.393G>C	X.37:g.104478538G>C	ENSP00000361663:p.Leu131Phe						p.L131F	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			4	1149	+			131			Ig-like C2-type 1.|Extracellular (Potential).		Q2M3U3|Q9NZN0	Missense_Mutation	SNP	ENST00000372582.1	37	c.393G>C	CCDS14517.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610407	0.66558	.	.	ENSG00000189108	ENST00000372582;ENST00000344799	D;D	0.87103	-2.21;-2.21	5.42	5.42	0.78866	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47093	D	0.000247	D	0.92163	0.7515	M	0.83774	2.66	0.80722	D	1	D	0.58970	0.984	P	0.61070	0.883	D	0.92832	0.6281	10	0.72032	D	0.01	.	10.7879	0.46415	0.0884:0.0:0.9116:0.0	.	131	Q9NP60	IRPL2_HUMAN	F	131	ENSP00000361663:L131F;ENSP00000344976:L131F	ENSP00000344976:L131F	L	+	3	2	IL1RAPL2	104365194	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.495000	0.60353	2.264000	0.75181	0.544000	0.68410	TTG		0.393	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1		NM_017416		9	71	0	0	0	0.006214	0	9	71		
CLDN2	9075	broad.mit.edu	37	X	106144121	106144121	+	Intron	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:106144121G>A	ENST00000541806.1	+	1	341				RIPPLY1_ENST00000411805.1_Missense_Mutation_p.S58F|RIPPLY1_ENST00000276173.4_Missense_Mutation_p.S105F	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2						calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.S105F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GAAGGAGCGGGATTTAGGCCA	0.522																																						uc004emr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(313-315)TCC>TTC		ripply1 homolog							75.0	68.0	70.0					X																	106144121		1904	4102	6006	SO:0001627	intron_variant	92129				negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent	nucleus		g.chrX:106144121G>A	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.-179+387G>A	X.37:g.106144121G>A						MORC4_uc004emp.3_Intron|CLDN2_uc004emq.1_Intron|RIPPLY1_uc004ems.1_Missense_Mutation_p.S58F	p.S105F	NM_138382	NP_612391	Q0D2K3	RIPP1_HUMAN			4	358	-			105			Ripply homology domain.		B2R6B9	Missense_Mutation	SNP	ENST00000541806.1	37	c.314C>T	CCDS14524.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066002	0.55539	.	.	ENSG00000147223	ENST00000276173;ENST00000411805	.	.	.	4.98	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.62392	0.2424	M	0.81341	2.54	0.80722	D	1	P;P	0.41929	0.765;0.559	B;P	0.44772	0.42;0.46	T	0.66452	-0.5920	9	0.87932	D	0	.	8.7749	0.34756	0.1099:0.0:0.8901:0.0	.	58;105	Q0D2K3-2;Q0D2K3	.;RIPP1_HUMAN	F	105;58	.	ENSP00000276173:S105F	S	-	2	0	RIPPLY1	106030777	1.000000	0.71417	0.506000	0.27664	0.575000	0.36095	4.641000	0.61375	1.170000	0.42753	0.600000	0.82982	TCC		0.522	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1				5	6	0	0	0	0.014758	0	5	6		
CLDN2	9075	broad.mit.edu	37	X	106171926	106171926	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:106171926G>A	ENST00000541806.1	+	2	987	c.468G>A	c.(466-468)atG>atA	p.M156I	CLDN2_ENST00000336803.1_Missense_Mutation_p.M156I|CLDN2_ENST00000540876.1_Missense_Mutation_p.M156I	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	156					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.M156I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CTGACAGCATGAAATTTGAGA	0.478																																						uc004emq.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(466-468)ATG>ATA		claudin 2							146.0	144.0	145.0					X																	106171926		2203	4300	6503	SO:0001583	missense	9075				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chrX:106171926G>A	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.468G>A	X.37:g.106171926G>A	ENSP00000441283:p.Met156Ile					MORC4_uc004emp.3_Intron|CLDN2_uc004emt.1_Missense_Mutation_p.M156I	p.M156I	NM_020384	NP_065117	P57739	CLD2_HUMAN			2	987	+			156			Extracellular (Potential).		B2R6B9	Missense_Mutation	SNP	ENST00000541806.1	37	c.468G>A	CCDS14524.1	.	.	.	.	.	.	.	.	.	.	G	15.82	2.945277	0.53079	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.88277	-2.36;-2.36;-2.36	5.25	5.25	0.73442	.	0.177118	0.64402	D	0.000014	D	0.87462	0.6183	L	0.31845	0.965	0.40789	D	0.983246	D	0.55605	0.972	P	0.49799	0.622	D	0.89180	0.3543	10	0.59425	D	0.04	.	15.266	0.73663	0.0:0.0:1.0:0.0	.	156	P57739	CLD2_HUMAN	I	156	ENSP00000441283:M156I;ENSP00000443230:M156I;ENSP00000336571:M156I	ENSP00000336571:M156I	M	+	3	0	CLDN2	106058582	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.683000	0.54663	2.195000	0.70347	0.523000	0.50628	ATG		0.478	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057815.1				14	63	0	0	0	0.016723	0	14	63		
CUL4B	8450	broad.mit.edu	37	X	119694330	119694330	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:119694330C>T	ENST00000404115.3	-	3	619	c.218G>A	c.(217-219)aGa>aAa	p.R73K	CUL4B_ENST00000371322.5_Missense_Mutation_p.R55K|CUL4B_ENST00000336592.6_Missense_Mutation_p.R60K	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	73	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R55K(1)|p.R73K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AAAGTCTTCTCTCTCGTTAct	0.517																																						uc004esw.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(217-219)AGA>AAA		cullin 4B isoform 1							130.0	85.0	100.0					X																	119694330		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694330C>T	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.218G>A	X.37:g.119694330C>T	ENSP00000384109:p.Arg73Lys					CUL4B_uc004esv.2_Missense_Mutation_p.R55K	p.R73K	NM_003588	NP_003579	Q13620	CUL4B_HUMAN			3	655	-			73			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.218G>A	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	C	2.283	-0.364147	0.05103	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.67865	-0.29;-0.28;-0.29	5.76	3.68	0.42216	.	0.579646	0.19453	N	0.113894	T	0.36110	0.0955	N	0.02539	-0.55	0.32882	D	0.510692	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.38134	-0.9675	9	.	.	.	-8.5012	8.8345	0.35104	0.0:0.6717:0.0:0.3283	.	73;55	Q13620;Q13620-1	CUL4B_HUMAN;.	K	55;60;73	ENSP00000360373:R55K;ENSP00000338919:R60K;ENSP00000384109:R73K	.	R	-	2	0	CUL4B	119578358	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.842000	0.27627	1.203000	0.43233	0.523000	0.50628	AGA		0.517	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1		NM_003588		5	15	0	0	0	0.014758	0	5	15		
TENM1	10178	broad.mit.edu	37	X	123805551	123805551	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:123805551C>T	ENST00000371130.3	-	6	1213	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	TENM1_ENST00000422452.2_Missense_Mutation_p.D384N	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	384					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.D386N(1)									TCTGATTTATCAGAAACTTTT	0.398																																						uc004euj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(1150-1152)GAT>AAT		odz, odd Oz/ten-m homolog 1 isoform 3							139.0	123.0	128.0					X																	123805551		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123805551C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1150G>A	X.37:g.123805551C>T	ENSP00000360171:p.Asp384Asn					ODZ1_uc011muj.1_Missense_Mutation_p.D383N|ODZ1_uc010nqy.2_Missense_Mutation_p.D384N	p.D384N	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			6	1214	-			384			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.1150G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958693	0.53400	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.28895	1.59;1.59	5.97	4.22	0.49857	.	0.408600	0.22573	N	0.058302	T	0.21186	0.0510	L	0.36672	1.1	0.42183	D	0.991696	P;B;B	0.35011	0.48;0.001;0.0	B;B;B	0.26770	0.073;0.003;0.001	T	0.02560	-1.1141	10	0.24483	T	0.36	.	12.2277	0.54470	0.0:0.8589:0.0:0.1411	.	383;384;384	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	N	384	ENSP00000360171:D384N;ENSP00000403954:D384N	ENSP00000360171:D384N	D	-	1	0	ODZ1	123633232	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	4.085000	0.57657	0.653000	0.30826	-0.198000	0.12761	GAT		0.398	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1		NM_014253		9	55	0	0	0	0.004482	0	9	55		
ARHGAP36	158763	broad.mit.edu	37	X	130219951	130219951	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:130219951A>T	ENST00000276211.5	+	9	1514	c.1169A>T	c.(1168-1170)aAa>aTa	p.K390I	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.K254I|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.K378I	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	390	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.K390I(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTCCTGAAAAAAGGAAAGTTT	0.468																																						uc004evz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(1168-1170)AAA>ATA		hypothetical protein LOC158763 precursor							231.0	220.0	224.0					X																	130219951		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130219951A>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1169A>T	X.37:g.130219951A>T	ENSP00000276211:p.Lys390Ile					ARHGAP36_uc004ewa.2_Missense_Mutation_p.K378I|ARHGAP36_uc004ewb.2_Missense_Mutation_p.K359I|ARHGAP36_uc004ewc.2_Missense_Mutation_p.K254I	p.K390I	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			9	1514	+			390			Rho-GAP.		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1169A>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	A	11.63	1.695290	0.30052	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	4.71	2.32	0.28847	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.46758	D	0.000270	T	0.23965	0.0580	L	0.58428	1.81	0.39941	D	0.97441	P;P;P	0.45176	0.693;0.852;0.57	B;P;B	0.46975	0.405;0.533;0.27	T	0.02263	-1.1186	10	0.44086	T	0.13	.	6.7947	0.23719	0.8612:0.0:0.1388:0.0	.	359;378;390	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	I	390;378;359;254	ENSP00000276211:K390I;ENSP00000359960:K378I;ENSP00000408515:K359I;ENSP00000359959:K254I	ENSP00000276211:K390I	K	+	2	0	ARHGAP36	130047632	0.997000	0.39634	0.982000	0.44146	0.132000	0.20833	0.479000	0.22228	0.192000	0.20272	0.430000	0.28490	AAA		0.468	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1		NM_144967		7	120	0	0	0	0.02938	0	7	120		
HCFC1	3054	broad.mit.edu	37	X	153225574	153225574	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chrX:153225574C>T	ENST00000310441.7	-	8	2089	c.1123G>A	c.(1123-1125)Gcc>Acc	p.A375T	HCFC1_ENST00000369984.4_Missense_Mutation_p.A375T|HCFC1_ENST00000461098.1_5'UTR|HCFC1_ENST00000354233.3_Missense_Mutation_p.A375T	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	375	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.A375T(1)|p.A276T(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTGTTGGCGCGTACCAGT	0.617																																						uc004fjp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)	2						c.(1123-1125)GCC>ACC		host cell factor 1							37.0	41.0	40.0					X																	153225574		1985	4130	6115	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153225574C>T		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.1123G>A	X.37:g.153225574C>T	ENSP00000309555:p.Ala375Thr						p.A375T	NM_005334	NP_005325	P51610	HCFC1_HUMAN			8	1651	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		375					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.1123G>A	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	C	34	5.404922	0.96051	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.66099	-0.19;-0.19;3.61	5.39	5.39	0.77823	Fibronectin, type III (1);Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.79094	0.4388	M	0.76328	2.33	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.81936	-0.0705	10	0.87932	D	0	.	16.8686	0.86035	0.0:1.0:0.0:0.0	.	375	P51610	HCFC1_HUMAN	T	375	ENSP00000309555:A375T;ENSP00000359001:A375T;ENSP00000346174:A375T	ENSP00000309555:A375T	A	-	1	0	HCFC1	152878768	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	7.581000	0.82535	2.244000	0.73946	0.600000	0.82982	GCC		0.617	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4		NM_005334		3	11	0	0	0	0.004672	0	3	11		
ABCA10	10349	broad.mit.edu	37	17	67183864	67183864	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr17:67183864delC	ENST00000269081.4	-	20	3197	c.2288delG	c.(2287-2289)cgcfs	p.R763fs	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	763					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CTTTAAGAAGCGAAGTGTTGC	0.378																																						uc010dfa.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2287-2289)CGCfs		ATP-binding cassette, sub-family A, member 10							129.0	123.0	125.0					17																	67183864		2203	4300	6503	SO:0001589	frameshift_variant	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67183864delC	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.2288delG	17.37:g.67183864delC	ENSP00000269081:p.Arg763fs					ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Frame_Shift_Del_p.R364fs	p.R763fs	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			20	3167	-	Breast(10;6.95e-12)		763					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Frame_Shift_Del	DEL	ENST00000269081.4	37	c.2288delG	CCDS11684.1																																																																																				0.378	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4		NM_080282		7	118	NaN	NaN	NaN	NaN	NaN	7	118	---	---
CAPN13	92291	broad.mit.edu	37	2	30974059	30974059	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr2:30974059delG	ENST00000295055.8	-	11	1322	c.1146delC	c.(1144-1146)accfs	p.T382fs	CAPN13_ENST00000534090.2_Frame_Shift_Del_p.T382fs	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	382					proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CGACAACATTGGTGCCTTCCA	0.468																																						uc002rnn.2		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1144-1146)ACCfs		calpain 13							85.0	84.0	84.0					2																	30974059		2028	4175	6203	SO:0001589	frameshift_variant	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30974059delG		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1146delC	2.37:g.30974059delG	ENSP00000295055:p.Thr382fs					CAPN13_uc002rnp.1_Frame_Shift_Del_p.T382fs	p.T382fs	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			11	1322	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)		382					Q17RF0|Q580X1|Q8TE80	Frame_Shift_Del	DEL	ENST00000295055.8	37	c.1146delC	CCDS46252.1																																																																																				0.468	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2		NM_144575		8	46	NaN	NaN	NaN	NaN	NaN	8	46	---	---
NFAM1	150372	broad.mit.edu	37	22	42828309	42828310	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A20O-01A-21D-A14W-08	TCGA-BT-A20O-11A-11D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7df63263-de4e-4ed8-804f-9e8fee3be2d5	12e550de-383e-4ccc-8a4f-106c35bbcc5a	g.chr22:42828309_42828310insT	ENST00000329021.5	-	1	91_92	c.54_55insA	c.(52-57)cctgggfs	p.G19fs		NM_145912.5	NP_666017.1	Q8NET5	NFAM1_HUMAN	NFAT activating protein with ITAM motif 1	19					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of cytokine production (GO:0001819)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of B cell differentiation (GO:0045577)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			large_intestine(1)|lung(3)	4						GCGGGGAGCCCAGGAGGGCGTG	0.663																																						uc003bcn.3		NaN																	0					0						c.(52-57)CCTGGGfs		NFAT activation molecule 1 precursor																																				SO:0001589	frameshift_variant	150372				B cell differentiation|inflammatory response|intracellular signal transduction|positive regulation of B cell receptor signaling pathway|positive regulation of cytokine production|positive regulation of sequence-specific DNA binding transcription factor activity	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chr22:42828309_42828310insT	BC038241	CCDS14034.1	22q13.2	2005-02-01			ENSG00000235568	ENSG00000235568			29872	protein-coding gene	gene with protein product		608740				12615919	Standard	NM_145912		Approved	CNAIP	uc003bcn.4	Q8NET5	OTTHUMG00000150923	ENST00000329021.5:c.54_55insA	22.37:g.42828309_42828310insT	ENSP00000333680:p.Gly19fs						p.P18fs	NM_145912	NP_666017	Q8NET5	NFAM1_HUMAN			1	92_93	-			18_19					B0QYD0|Q20WL2|Q5JZ96|Q8IUY8|Q8TEM8	Frame_Shift_Ins	INS	ENST00000329021.5	37	c.54_55insA	CCDS14034.1																																																																																				0.663	NFAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320541.1		NM_145912		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
