#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
ESPN	83715	broad.mit.edu	37	1	6505817	6505879	+	In_Frame_Del	DEL	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	rs530882053|rs139266211	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	-	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	ENST00000377828.1	+	7	1454_1516	c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	c.(1285-1350)acacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgccccca>aca	p.PPPPPPSFPPPPPPPGTQLPP430del	ESPN_ENST00000416731.1_5'Flank|RP1-202O8.2_ENST00000419034.1_RNA|ESPN_ENST00000461727.1_5'Flank	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	430	Pro-rich.				locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GGGAAGcccacacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgcccccacccccacc	0.65																																						ENST00000377828.1		NA																	0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(1285-1350)acacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgccccca>aca		espin																																				SO:0001651	inframe_deletion	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	1.37:g.6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	ENSP00000367059:p.Pro430_Pro450del	True	False		Somatic	1				RP1-202O8.2_ENST00000419034.1_RNA	p.PPPPPPSFPPPPPPPGTQLPP430del	NM_031475.2	NP_113663.2	WXS	Illumina HiSeq	Phase_I	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	7	1454_1516	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	430			Pro-rich.		Q6XYB2|Q9H0A2|Q9Y329	In_Frame_Del	DEL	ENST00000377828.1	37	c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CCDS70.1																																																																																				0.650	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	0	NM_031475		1:6505817
TET1	80312	broad.mit.edu	37	10	70332929	70332940	+	In_Frame_Del	DEL	ATCTCTTAAGTT	ATCTCTTAAGTT	-			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	ATCTCTTAAGTT	ATCTCTTAAGTT	-	-	ATCTCTTAAGTT	ATCTCTTAAGTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:70332929_70332940delATCTCTTAAGTT	ENST00000373644.4	+	2	1043_1054	c.834_845delATCTCTTAAGTT	c.(832-846)gaatctcttaagtta>gaa	p.SLKL279del		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	279					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)	p.S279Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CACGAGTAGAATCTCTTAAGTTATCTGATTCT	0.434																																						ENST00000373644.4		NA																	1	Substitution - Missense(1)	p.S279Y(1)	large_intestine(1)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(832-846)gaatctcttaagtta>gaa		tet methylcytosine dioxygenase 1																																				SO:0001651	inframe_deletion	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70332929_70332940delATCTCTTAAGTT	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.834_845delATCTCTTAAGTT	10.37:g.70332929_70332940delATCTCTTAAGTT	ENSP00000362748:p.Ser279_Leu282del	False	False		Somatic	1					p.SLKL279del	NM_030625.2	NP_085128.2	WXS	Illumina HiSeq	Phase_I	Q8NFU7	TET1_HUMAN			2	1043_1054	+			279					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	In_Frame_Del	DEL	ENST00000373644.4	37	c.834_845delATCTCTTAAGTT	CCDS7281.1																																																																																				0.434	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	0	NM_030625		10:70332929
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	rs564275104|rs201778313|rs368323505		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENST00000301067.7	-	10	2373_2426	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel	p.AEGPHLSPQPEELHLSPQ792del		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	792	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCTCCTCAGTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGAC	0.638																																						ENST00000301067.7		NA																	0					NA						c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	12.37:g.49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENSP00000301067:p.Ala792_Gln809del	False	False		Somatic	1					p.AEGPHLSPQPEELHLSPQ792del	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					10	2373_2426	-			NA					O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	CCDS44873.1																																																																																				0.638	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49445039
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
WFIKKN2	124857	broad.mit.edu	37	17	48917574	48917580	+	Frame_Shift_Del	DEL	CAGGCTG	CAGGCTG	-			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	CAGGCTG	CAGGCTG	-	-	CAGGCTG	CAGGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:48917574_48917580delCAGGCTG	ENST00000311378.4	+	2	1453_1459	c.925_931delCAGGCTG	c.(925-933)caggctgcafs	p.QAA309fs	WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.QAA216fs|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	309					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A311S(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CAGGGGTCATCAGGCTGCAGCCACCTC	0.657																																						ENST00000311378.4		NA																	1	Substitution - Missense(1)	p.A311S(1)	lung(1)	cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29						c.(925-933)caggctgcafs		WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2																																				SO:0001589	frameshift_variant	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917574_48917580delCAGGCTG	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.925_931delCAGGCTG	17.37:g.48917574_48917580delCAGGCTG	ENSP00000311184:p.Gln309fs	False	False		Somatic	1				RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.QAA216fs	p.QAA309fs	NM_175575.5	NP_783165.1	WXS	Illumina HiSeq	Phase_I	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1453_1459	+			309					Q6UXZ9	Frame_Shift_Del	DEL	ENST00000311378.4	37	c.925_931delCAGGCTG	CCDS11575.1																																																																																				0.657	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	0	NM_175575		17:48917574
MUC16	94025	broad.mit.edu	37	19	9086442	9086457	+	Frame_Shift_Del	DEL	GCTGGACTCTGTCCTT	GCTGGACTCTGTCCTT	-			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	GCTGGACTCTGTCCTT	GCTGGACTCTGTCCTT	-	-	GCTGGACTCTGTCCTT	GCTGGACTCTGTCCTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:9086442_9086457delGCTGGACTCTGTCCTT	ENST00000397910.4	-	1	5561_5576	c.5358_5373delAAGGACAGAGTCCAGC	c.(5356-5373)gcaaggacagagtccagcfs	p.ARTESS1786fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1786	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTAGCTGAGCTGGACTCTGTCCTTGCTGAAGACT	0.468																																						ENST00000397910.4		NA																	0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(5356-5373)gcaaggacagagtccagcfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9086442_9086457delGCTGGACTCTGTCCTT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5358_5373delAAGGACAGAGTCCAGC	19.37:g.9086442_9086457delGCTGGACTCTGTCCTT	ENSP00000381008:p.Ala1786fs	False	False		Somatic	1					p.ARTESS1786fs	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			1	5561_5576	-			1786			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Del	DEL	ENST00000397910.4	37	c.5358_5373delAAGGACAGAGTCCAGC	CCDS54212.1																																																																																				0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9086442
RFX1	5989	broad.mit.edu	37	19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	rs201914058|rs559806837	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71																																						ENST00000254325.4		NA																	0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc		regulatory factor X, 1 (influences HLA class II expression)																																				SO:0001651	inframe_deletion	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	19.37:g.14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENSP00000254325:p.Gly386_Ser400del	False	False		Somatic	1					p.386_401GGGGGGGGGGGGGGSG>G	NM_002918.4	NP_002909.4	WXS	Illumina HiSeq	Phase_I	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		9	1392_1436	-			386			Gly-rich.			In_Frame_Del	DEL	ENST00000254325.4	37	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	CCDS12301.1																																																																																				0.710	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	0	NM_002918		19:14083667
RYR1	6261	broad.mit.edu	37	19	38937409	38937415	+	Splice_Site	DEL	GTAGGGC	GTAGGGC	-			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	GTAGGGC	GTAGGGC	-	-	GTAGGGC	GTAGGGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:38937409_38937415delGTAGGGC	ENST00000359596.3	+	9	800		c.e9+1		RYR1_ENST00000355481.4_Splice_Site|RYR1_ENST00000360985.3_Splice_Site			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)						calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	TGAGAATCAGGTAGGGCGGGGAAGATG	0.575																																						ENST00000355481.4		NA																	0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.e9+1		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)																																			SO:0001630	splice_region_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38937409_38937415delGTAGGGC	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.800+1GTAGGGC>-	19.37:g.38937409_38937415delGTAGGGC		True	False		Somatic	1				RYR1_ENST00000360985.3_Splice_Site|RYR1_ENST00000359596.3_Splice_Site		NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	WXS	Illumina HiSeq	Phase_I	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		9	931	+	all_cancers(60;7.91e-06)		NA					Q16314|Q16368|Q9NPK1|Q9P1U4	Splice_Site	DEL	ENST00000359596.3	37		CCDS33011.1																																																																																				0.575	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1	0		Intron	19:38937409
NONO	4841	broad.mit.edu	37	X	70514254	70514255	+	Frame_Shift_Ins	INS	-	-	AGATC			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:70514254_70514255insAGATC	ENST00000276079.8	+	5	731_732	c.526_527insAGATC	c.(526-528)aggfs	p.R176fs	NONO_ENST00000373856.3_Frame_Shift_Ins_p.R176fs|NONO_ENST00000535149.1_Frame_Shift_Ins_p.R87fs|NONO_ENST00000373841.1_Frame_Shift_Ins_p.R176fs|NONO_ENST00000490044.1_3'UTR	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	176	DBHS.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CCAGGTAGAGAGGGCTGTAGTC	0.51			T	TFE3	papillary renal cancer																																	ENST00000276079.8		NA		Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(526-528)aggfs		non-POU domain containing, octamer-binding																																				SO:0001589	frameshift_variant	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70514254_70514255insAGATC	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	Exception_encountered	X.37:g.70514254_70514255insAGATC	ENSP00000276079:p.Arg176fs	True	False		Somatic	0				NONO_ENST00000490044.1_3'UTR|NONO_ENST00000535149.1_Frame_Shift_Ins_p.R87fs|NONO_ENST00000373841.1_Frame_Shift_Ins_p.R176fs|NONO_ENST00000373856.3_Frame_Shift_Ins_p.R176fs	p.R176fs	NM_007363.4	NP_031389.3	WXS	Illumina HiSeq	Phase_I	Q15233	NONO_HUMAN			5	731_732	+	Renal(35;0.156)		176			DBHS.|RRM 2.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Frame_Shift_Ins	INS	ENST00000276079.8	37	c.526_527insAGATC	CCDS14410.1																																																																																				0.510	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	0	NM_007363		X:70514254
NONO	4841	broad.mit.edu	37	X	70514256	70514257	+	Frame_Shift_Ins	INS	-	-	AAGA			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:70514256_70514257insAAGA	ENST00000276079.8	+	5	733_734	c.528_529insAAGA	c.(529-531)gctfs	p.A177fs	NONO_ENST00000373856.3_Frame_Shift_Ins_p.A177fs|NONO_ENST00000535149.1_Frame_Shift_Ins_p.A88fs|NONO_ENST00000373841.1_Frame_Shift_Ins_p.A177fs|NONO_ENST00000490044.1_3'UTR	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	177	DBHS.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGGTAGAGAGGGCTGTAGTCAT	0.51			T	TFE3	papillary renal cancer																																	ENST00000276079.8		NA		Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(529-531)gctfs		non-POU domain containing, octamer-binding																																				SO:0001589	frameshift_variant	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70514256_70514257insAAGA	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	Exception_encountered	X.37:g.70514256_70514257insAAGA	ENSP00000276079:p.Ala177fs	True	False		Somatic	0				NONO_ENST00000490044.1_3'UTR|NONO_ENST00000535149.1_Frame_Shift_Ins_p.A88fs|NONO_ENST00000373841.1_Frame_Shift_Ins_p.A177fs|NONO_ENST00000373856.3_Frame_Shift_Ins_p.A177fs	p.A177fs	NM_007363.4	NP_031389.3	WXS	Illumina HiSeq	Phase_I	Q15233	NONO_HUMAN			5	733_734	+	Renal(35;0.156)		177			DBHS.|RRM 2.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Frame_Shift_Ins	INS	ENST00000276079.8	37	c.528_529insAAGA	CCDS14410.1																																																																																				0.510	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	0	NM_007363		X:70514256
CDKAL1	54901	broad.mit.edu	37	6	21198312	21198342	+	Splice_Site	DEL	GCACACAATCAATTCTATGAGCAGGTAAGAG	GCACACAATCAATTCTATGAGCAGGTAAGAG	-	rs374932945		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	GCACACAATCAATTCTATGAGCAGGTAAGAG	GCACACAATCAATTCTATGAGCAGGTAAGAG	-	-	GCACACAATCAATTCTATGAGCAGGTAAGAG	GCACACAATCAATTCTATGAGCAGGTAAGAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:21198312_21198342delGCACACAATCAATTCTATGAGCAGGTAAGAG	ENST00000378610.1	+	12	1370_1393	c.1360_1383delGCACACAATCAATTCTATGAGCAGGTAAGAG	c.(1360-1383)gcacacaatcaattctatgagcagdel	p.AHNQFYEQ454fs	CDKAL1_ENST00000274695.4_Splice_Site_p.AHNQFYEQ454fs|CDKAL1_ENST00000378624.4_Splice_Site_p.AHNQFYEQ363fs			Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	454	TRAM. {ECO:0000255|PROSITE- ProRule:PRU00208}.				maintenance of translational fidelity (GO:1990145)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|N6-threonylcarbomyladenosine methylthiotransferase activity (GO:0035598)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GTTTTATGTTGCACACAATCAATTCTATGAGCAGGTAAGAGGCACTTCAGT	0.385																																						ENST00000378610.1		NA																	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29						c.(1360-1383)gcacacaatcaattctatgagcagdel		CDK5 regulatory subunit associated protein 1-like 1																																				SO:0001630	splice_region_variant	54901				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity	g.chr6:21198312_21198342delGCACACAATCAATTCTATGAGCAGGTAAGAG	AK000349	CCDS4546.1	6p22.2	2008-02-05			ENSG00000145996	ENSG00000145996			21050	protein-coding gene	gene with protein product		611259					Standard	NM_017774		Approved	FLJ20342	uc003ndd.2	Q5VV42	OTTHUMG00000014340	ENST00000378610.1:c.1383+1GCACACAATCAATTCTATGAGCAGGTAAGAG>-	6.37:g.21198312_21198342delGCACACAATCAATTCTATGAGCAGGTAAGAG		False	False		Somatic	1				CDKAL1_ENST00000378624.4_Splice_Site_p.AHNQFYEQ363fs|CDKAL1_ENST00000274695.4_Splice_Site_p.AHNQFYEQ454fs	p.AHNQFYEQ454fs			WXS	Illumina HiSeq	Phase_I	Q5VV42	CDKAL_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)		12	1370_1393	+	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		454			TRAM.		A8K6S0|Q6P385|Q6ZR27|Q9NXB3	Splice_Site	DEL	ENST00000378610.1	37	c.1360_1383delGCACACAATCAATTCTATGAGCAGGTAAGAG	CCDS4546.1																																																																																				0.385	CDKAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039986.1	0	NM_017774	Frame_Shift_Del	6:21198312
MDGA1	266727	broad.mit.edu	37	6	37622148	37622148	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:37622148delA	ENST00000434837.3	-	6	2062	c.884delT	c.(883-885)atcfs	p.I295fs	MDGA1_ENST00000505425.1_Frame_Shift_Del_p.I295fs|MDGA1_ENST00000297153.7_Frame_Shift_Del_p.I295fs	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	295	Ig-like 3.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CACTGAAGGGATGCTGAGGGT	0.637																																						ENST00000434837.2		NA																	0				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						c.(883-885)atcfs		MAM domain containing glycosylphosphatidylinositol anchor 1							44.0	47.0	46.0					6																	37622148		2085	4204	6289	SO:0001589	frameshift_variant	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37622148delA	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.884delT	6.37:g.37622148delA	ENSP00000402584:p.Ile295fs	True	False		Somatic	1				MDGA1_ENST00000297153.7_Frame_Shift_Del_p.I295fs|MDGA1_ENST00000505425.1_Frame_Shift_Del_p.I295fs	p.I295fs	NM_153487.3	NP_705691.1	WXS	Illumina HiSeq	Phase_I	Q8NFP4	MDGA1_HUMAN			6	2062	-			295			Ig-like 3.		A6NHG0|Q8NBE3	Frame_Shift_Del	DEL	ENST00000434837.3	37	c.884delT	CCDS47417.1																																																																																				0.637	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3	0			6:37622148
MDGA1	266727	broad.mit.edu	37	6	37622150	37622193	+	Frame_Shift_Del	DEL	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	-	rs35798272		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	-	-	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	GCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:37622150_37622193delGCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	ENST00000434837.3	-	6	2017_2060	c.839_882delGCCCACTGCCCCTGGGTGCTCTGGCCCAGGGTGGCACCCTCAGC	c.(838-882)ggcccactgcccctgggtgctctggcccagggtggcaccctcagcfs	p.GPLPLGALAQGGTLS280fs	MDGA1_ENST00000505425.1_Frame_Shift_Del_p.GPLPLGALAQGGTLS280fs|MDGA1_ENST00000297153.7_Frame_Shift_Del_p.GPLPLGALAQGGTLS280fs	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	280	Ig-like 3.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)		p.Q289H(1)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTGAAGGGATGCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGCCAGGCCCATG	0.623																																						ENST00000434837.2		NA																	1	Substitution - Missense(1)	p.Q289H(1)	endometrium(1)	central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						c.(838-882)ggcccactgcccctgggtgctctggcccagggtggcaccctcagcfs		MAM domain containing glycosylphosphatidylinositol anchor 1																																				SO:0001589	frameshift_variant	266727				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane		g.chr6:37622150_37622193delGCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.839_882delGCCCACTGCCCCTGGGTGCTCTGGCCCAGGGTGGCACCCTCAGC	6.37:g.37622150_37622193delGCTGAGGGTGCCACCCTGGGCCAGAGCACCCAGGGGCAGTGGGC	ENSP00000402584:p.Gly280fs	False	False		Somatic	1				MDGA1_ENST00000297153.7_Frame_Shift_Del_p.GPLPLGALAQGGTLS280fs|MDGA1_ENST00000505425.1_Frame_Shift_Del_p.GPLPLGALAQGGTLS280fs	p.GPLPLGALAQGGTLS280fs	NM_153487.3	NP_705691.1	WXS	Illumina HiSeq	Phase_I	Q8NFP4	MDGA1_HUMAN			6	2017_2060	-			280			Ig-like 3.		A6NHG0|Q8NBE3	Frame_Shift_Del	DEL	ENST00000434837.3	37	c.839_882delGCCCACTGCCCCTGGGTGCTCTGGCCCAGGGTGGCACCCTCAGC	CCDS47417.1																																																																																				0.623	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040419.3	0			6:37622150
GHSR	2693	broad.mit.edu	37	3	172165640	172165640	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:172165640G>A	ENST00000241256.2	-	1	606	c.564C>T	c.(562-564)aaC>aaT	p.N188N	GHSR_ENST00000427970.1_Silent_p.N188N	NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	188					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GGTCGGTGCCGTTCTCGTGCT	0.637																																					Esophageal Squamous(93;641 1401 20883 29581 34638)	ENST00000241256.2		NA																	0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33						c.(562-564)aaC>aaT		growth hormone secretagogue receptor							46.0	42.0	43.0					3																	172165640		2203	4300	6503	SO:0001819	synonymous_variant	2693				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	g.chr3:172165640G>A	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.564C>T	3.37:g.172165640G>A		False	False		Somatic	0				GHSR_ENST00000427970.1_Silent_p.N188N	p.N188N	NM_198407.2	NP_940799.1	WXS	Illumina HiSeq	Phase_I	Q92847	GHSR_HUMAN	Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	606	-	Ovarian(172;0.00143)|Breast(254;0.197)		188					Q14D12|Q6ISR8|Q92848|Q96RJ7	Silent	SNP	ENST00000241256.2	37	c.564C>T	CCDS3218.1																																																																																				0.637	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	0	NM_004122		3:172165640
CDH23	64072	broad.mit.edu	37	10	73545428	73545428	+	Missense_Mutation	SNP	G	G	A	rs115113440	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:73545428G>A	ENST00000224721.6	+	43	5773	c.5768G>A	c.(5767-5769)cGg>cAg	p.R1923Q		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1918	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GACCGCGAGCGGATCCCAGAG	0.597													G|||	11	0.00219649	0.0083	0.0	5008	,	,		20424	0.0		0.0	False		,,,				2504	0.0					ENST00000224721.6		NA																	0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(5767-5769)cGg>cAg		cadherin-related 23		G	GLN/ARG	18,4196		0,18,2089	48.0	54.0	52.0		5753	2.3	1.0	10	dbSNP_132	52	0,8414		0,0,4207	yes	missense	CDH23	NM_022124.5	43	0,18,6296	AA,AG,GG		0.0,0.4271,0.1425	benign	1918/3355	73545428	18,12610	2107	4207	6314	SO:0001583	missense	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73545428G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5768G>A	10.37:g.73545428G>A	ENSP00000224721:p.Arg1923Gln	False	False		Somatic	0					p.R1923Q	NM_022124.5	NP_071407.4	WXS	Illumina HiSeq	Phase_I	Q9H251	CAD23_HUMAN			43	5773	+			1918			Cadherin 18.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	ENST00000224721.6	37	c.5768G>A		6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	12.73	2.024660	0.35701	0.004271	0.0	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.2	2.33	0.28932	Cadherin (4);Cadherin-like (1);	0.074456	0.53938	D	0.000048	T	0.18173	0.0436	N	0.05510	-0.035	0.80722	D	1	B	0.22683	0.073	B	0.18871	0.023	T	0.03287	-1.1052	9	0.15499	T	0.54	.	5.4098	0.16342	0.2787:0.0:0.592:0.1293	.	1918	Q9H251	CAD23_HUMAN	Q	1923;1918;1921	.	ENSP00000224721:R1923Q	R	+	2	0	CDH23	73215434	0.999000	0.42202	0.991000	0.47740	0.646000	0.38490	0.633000	0.24598	0.208000	0.20626	-0.380000	0.06706	CGG		0.597	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	0	NM_052836		10:73545428
TTN	7273	broad.mit.edu	37	2	179638079	179638079	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:179638079C>T	ENST00000591111.1	-	33	7836	c.7612G>A	c.(7612-7614)Ggt>Agt	p.G2538S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.G2538S|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G2538S|TTN_ENST00000342992.6_Missense_Mutation_p.G2538S|TTN_ENST00000342175.6_Missense_Mutation_p.G2492S|TTN_ENST00000359218.5_Missense_Mutation_p.G2492S|TTN_ENST00000460472.2_Missense_Mutation_p.G2492S|TTN-AS1_ENST00000584485.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12861					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACGAAGACCTCTGATAATT	0.353																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(7612-7614)Ggt>Agt		titin							38.0	41.0	40.0					2																	179638079		2202	4297	6499	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179638079C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7612G>A	2.37:g.179638079C>T	ENSP00000465570:p.Gly2538Ser	False	False		Somatic	0				TTN_ENST00000460472.2_Missense_Mutation_p.G2492S|TTN_ENST00000359218.5_Missense_Mutation_p.G2492S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G2492S|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G2538S|TTN_ENST00000360870.5_Missense_Mutation_p.G2538S|TTN_ENST00000342992.6_Missense_Mutation_p.G2538S	p.G2538S	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		33	7836	-			2272					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.7612G>A		.	.	.	.	.	.	.	.	.	.	C	13.09	2.134330	0.37630	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.82	5.82	0.92795	Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.75079	0.3801	L	0.42581	1.335	0.28955	N	0.890175	D;D;D;D;D	0.76494	0.978;0.978;0.978;0.989;0.999	P;P;P;P;D	0.69479	0.871;0.871;0.871;0.871;0.964	T	0.70737	-0.4790	9	0.87932	D	0	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	2492;2492;2492;2538;2538	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	S	2538;2492;2492;2492;2492;2538	ENSP00000343764:G2538S;ENSP00000434586:G2492S;ENSP00000340554:G2492S;ENSP00000352154:G2492S;ENSP00000354117:G2538S	ENSP00000340554:G2492S	G	-	1	0	TTN	179346324	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.965000	0.63708	2.765000	0.95021	0.650000	0.86243	GGT		0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179638079
KCNK15	60598	broad.mit.edu	37	20	43374752	43374752	+	Silent	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr20:43374752C>A	ENST00000372861.3	+	1	332	c.201C>A	c.(199-201)ctC>ctA	p.L67L	RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA	NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	67					regulation of ion transmembrane transport (GO:0034765)	integral component of membrane (GO:0016021)	potassium channel activity (GO:0005267)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GCCTGGCGCTCCAGGCTGAGC	0.692																																						ENST00000372861.3		NA																	0				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						c.(199-201)ctC>ctA		potassium channel, subfamily K, member 15							8.0	11.0	10.0					20																	43374752		2138	4236	6374	SO:0001819	synonymous_variant	60598					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr20:43374752C>A	AF257081	CCDS13337.1	20q13.12	2012-03-07			ENSG00000124249	ENSG00000124249		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	13814	protein-coding gene	gene with protein product		607368		KCNK11, KCNK14		11409881, 11431495, 16382106	Standard	NM_022358		Approved	K2p15.1, dJ781B1.1, KT3.3, KIAA0237, TASK5, TASK-5	uc002xmr.3	Q9H427	OTTHUMG00000032544	ENST00000372861.3:c.201C>A	20.37:g.43374752C>A		False	False		Somatic	0					p.L67L	NM_022358.3	NP_071753.2	WXS	Illumina HiSeq	Phase_I	Q9H427	KCNKF_HUMAN			1	332	+		Myeloproliferative disorder(115;0.0122)	67					Q52LL3|Q9HBC8	Silent	SNP	ENST00000372861.3	37	c.201C>A	CCDS13337.1																																																																																				0.692	KCNK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079378.2	0	NM_022358		20:43374752
PKD1	5310	broad.mit.edu	37	16	2165466	2165466	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:2165466C>T	ENST00000262304.4	-	10	2218	c.2010G>A	c.(2008-2010)acG>acA	p.T670T	PKD1_ENST00000423118.1_Silent_p.T670T|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	670	LDL-receptor class A; atypical.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGGCCCTGACGTGCAGCCAT	0.711																																						ENST00000262304.4		NA																	0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(2008-2010)acG>acA		polycystic kidney disease 1 (autosomal dominant)							12.0	15.0	14.0					16																	2165466		2163	4255	6418	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2165466C>T	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.2010G>A	16.37:g.2165466C>T		False	False		Somatic	0				PKD1_ENST00000423118.1_Silent_p.T670T	p.T670T	NM_001009944.2	NP_001009944.2	WXS	Illumina HiSeq	Phase_I	P98161	PKD1_HUMAN			10	2218	-			670			LDL-receptor class A; atypical.		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.2010G>A	CCDS32369.1	.	.	.	.	.	.	.	.	.	.	.	5.400	0.259040	0.10239	.	.	ENSG00000008710	ENST00000306101	.	.	.	4.65	-6.53	0.01866	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5936	0.28035	0.0:0.3152:0.2329:0.4519	.	.	.	.	.	-1	.	.	.	-	.	.	PKD1	2105467	0.000000	0.05858	0.000000	0.03702	0.059000	0.15707	-1.318000	0.02705	-1.032000	0.03304	-0.259000	0.10710	.		0.711	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1	0			16:2165466
AGAP5	729092	broad.mit.edu	37	10	75451817	75451817	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:75451817C>A	ENST00000374094.4	-	4	420	c.380G>T	c.(379-381)aGc>aTc	p.S127I	AGAP5_ENST00000443782.2_Missense_Mutation_p.S104I|RP11-464F9.1_ENST00000399449.3_RNA	NM_001144000.1	NP_001137472.1	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	127					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						TGTACAGTTGCTTCTTCTTAT	0.274																																						ENST00000443782.2		NA																	0				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						c.(310-312)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 5							17.0	15.0	15.0					10																	75451817		688	1544	2232	SO:0001583	missense	729092				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:75451817C>A		CCDS44439.1	10q22.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000172650	ENSG00000172650		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23467	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 2"""	CTGLF2			Standard	NM_001144000		Approved	Em:AC073389.1	uc009xri.3	A6NIR3	OTTHUMG00000018473	ENST00000374094.4:c.380G>T	10.37:g.75451817C>A	ENSP00000363207:p.Ser127Ile	True	False		Somatic	0				RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Missense_Mutation_p.S127I	p.S104I			WXS	Illumina HiSeq	Phase_I	A6NIR3	AGAP5_HUMAN			3	436	-			127					A8MSN5	Missense_Mutation	SNP	ENST00000374094.4	37	c.311G>T	CCDS44439.1	.	.	.	.	.	.	.	.	.	.	-	10.74	1.435480	0.25813	.	.	ENSG00000172650	ENST00000374094;ENST00000443782	D;D	0.88354	-2.37;-2.37	1.7	1.7	0.24286	.	0.278236	0.34555	N	0.003870	D	0.85435	0.5696	M	0.77103	2.36	0.22253	N	0.999252	P	0.37015	0.578	B	0.30716	0.119	T	0.79577	-0.1746	10	0.59425	D	0.04	.	9.4009	0.38431	0.0:1.0:0.0:0.0	.	127	A6NIR3	AGAP5_HUMAN	I	127;104	ENSP00000363207:S127I;ENSP00000402792:S104I	ENSP00000363207:S127I	S	-	2	0	AGAP5	75121823	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	1.476000	0.35420	1.256000	0.44068	0.184000	0.17185	AGC		0.274	AGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	XM_001132585		10:75451817
OR2B11	127623	broad.mit.edu	37	1	247614391	247614391	+	Silent	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:247614391A>G	ENST00000318749.6	-	1	917	c.894T>C	c.(892-894)aaT>aaC	p.N298N		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	298						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCATATCTTTATTTCTCAGGG	0.473																																						ENST00000318749.6		NA																	0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(892-894)aaT>aaC		olfactory receptor, family 2, subfamily B, member 11							186.0	200.0	195.0					1																	247614391		2203	4300	6503	SO:0001819	synonymous_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614391A>G		CCDS31090.1	1q44	2012-08-09			ENSG00000177535	ENSG00000177535		"""GPCR / Class A : Olfactory receptors"""	31249	protein-coding gene	gene with protein product							Standard	NM_001004492		Approved		uc010pyx.2	Q5JQS5	OTTHUMG00000040572	ENST00000318749.6:c.894T>C	1.37:g.247614391A>G		True	False		Somatic	0					p.N298N	NM_001004492.1	NP_001004492.1	WXS	Illumina HiSeq	Phase_I	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	917	-	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	298					B2RP03	Silent	SNP	ENST00000318749.6	37	c.894T>C	CCDS31090.1																																																																																				0.473	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	0	NM_001004492		1:247614391
MYH10	4628	broad.mit.edu	37	17	8398511	8398511	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:8398511C>A	ENST00000269243.4	-	29	4045	c.3907G>T	c.(3907-3909)Ggt>Tgt	p.G1303C	MYH10_ENST00000379980.4_Missense_Mutation_p.G1319C|MYH10_ENST00000360416.3_Missense_Mutation_p.G1334C|MYH10_ENST00000396239.1_Missense_Mutation_p.G1324C	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1303					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AATTTAATACCCTTCTTCTCT	0.408																																						ENST00000360416.3		NA																	0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(4000-4002)Ggt>Tgt		myosin, heavy chain 10, non-muscle							136.0	131.0	133.0					17																	8398511		2203	4300	6503	SO:0001583	missense	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8398511C>A	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.3907G>T	17.37:g.8398511C>A	ENSP00000269243:p.Gly1303Cys	True	False		Somatic	0				MYH10_ENST00000396239.1_Missense_Mutation_p.G1324C|MYH10_ENST00000379980.4_Missense_Mutation_p.G1319C|MYH10_ENST00000269243.4_Missense_Mutation_p.G1303C	p.G1334C	NM_001256012.1	NP_001242941.1	WXS	Illumina HiSeq	Phase_I	P35580	MYH10_HUMAN			31	4138	-			1303					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	ENST00000269243.4	37	c.4000G>T	CCDS11144.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.118677	0.37436	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	4.88	4.88	0.63580	Myosin tail (1);	0.051033	0.85682	D	0.000000	T	0.66416	0.2787	N	0.13098	0.295	0.58432	D	0.999996	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.005;0.003;0.005	T	0.63514	-0.6620	10	0.62326	D	0.03	.	18.5819	0.91174	0.0:1.0:0.0:0.0	.	1312;1334;1303	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	C	1303;1334;1324;1319	ENSP00000269243:G1303C;ENSP00000353590:G1334C;ENSP00000379539:G1324C;ENSP00000369315:G1319C	ENSP00000269243:G1303C	G	-	1	0	MYH10	8339236	0.212000	0.23540	0.973000	0.42090	0.977000	0.68977	0.960000	0.29253	2.688000	0.91661	0.655000	0.94253	GGT		0.408	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2	0			17:8398511
SCRN2	90507	broad.mit.edu	37	17	45916852	45916852	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:45916852G>A	ENST00000290216.9	-	4	639	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	SCRN2_ENST00000584123.1_Silent_p.L180L|SCRN2_ENST00000407215.3_Silent_p.L172L	NM_001145023.1|NM_138355.3	NP_001138495.1|NP_612364.2	Q96FV2	SCRN2_HUMAN	secernin 2	172						extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						GCTGTCTCCAGCACCCACGCC	0.622																																						ENST00000407215.3		NA																	0				cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						c.(514-516)Ctg>Ttg		secernin 2							68.0	63.0	65.0					17																	45916852		2203	4300	6503	SO:0001819	synonymous_variant	90507				proteolysis		dipeptidase activity	g.chr17:45916852G>A	BC002980	CCDS11519.1, CCDS45723.1	17q21	2008-02-05							30381	protein-coding gene	gene with protein product		614966				12221138	Standard	NM_001145023		Approved		uc002imd.3	Q96FV2		ENST00000290216.9:c.514C>T	17.37:g.45916852G>A		False	False		Somatic	0				SCRN2_ENST00000290216.9_Silent_p.L172L|SCRN2_ENST00000584123.1_Silent_p.L180L	p.L172L			WXS	Illumina HiSeq	Phase_I	Q96FV2	SCRN2_HUMAN			4	595	-			172					A8K3N1|B7Z8S7|E9PBV5|Q96AC3|Q9BU04	Silent	SNP	ENST00000290216.9	37	c.514C>T	CCDS11519.1																																																																																				0.622	SCRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441383.1	0	NM_138355		17:45916852
PDE8B	8622	broad.mit.edu	37	5	76646926	76646926	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:76646926G>A	ENST00000264917.5	+	9	1099	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R	PDE8B_ENST00000342343.4_Missense_Mutation_p.G332R|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000340978.3_Missense_Mutation_p.G305R|PDE8B_ENST00000333194.4_Missense_Mutation_p.G352R	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	352					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.G352R(1)	GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	ACGGAAATCCGGGGACAGCAT	0.502																																						ENST00000264917.5		NA																GMDS/PDE8B(2)	1	Substitution - Missense(1)	p.G352R(1)	skin(1)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40						c.(1054-1056)Ggg>Agg		phosphodiesterase 8B							122.0	113.0	116.0					5																	76646926		2203	4300	6503	SO:0001583	missense	8622				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr5:76646926G>A	AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.1054G>A	5.37:g.76646926G>A	ENSP00000264917:p.Gly352Arg	True	False		Somatic	0				PDE8B_ENST00000342343.4_Missense_Mutation_p.G332R|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000333194.4_Missense_Mutation_p.G352R|PDE8B_ENST00000340978.3_Missense_Mutation_p.G305R	p.G352R	NM_003719.3	NP_003710.1	WXS	Illumina HiSeq	Phase_I	O95263	PDE8B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	9	1099	+		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)	352					Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	ENST00000264917.5	37	c.1054G>A	CCDS4037.1	.	.	.	.	.	.	.	.	.	.	G	33	5.260123	0.95368	.	.	ENSG00000113231	ENST00000340978;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000503963	D;D;D;D;T	0.87179	-2.22;-2.22;-2.22;-2.22;-0.39	5.39	5.39	0.77823	PAS (1);PAS fold (1);	0.588962	0.18116	N	0.151194	D	0.96021	0.8704	H	0.96889	3.9	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.984;0.988;0.984;0.993	D	0.96973	0.9710	10	0.62326	D	0.03	.	17.9374	0.89017	0.0:0.0:1.0:0.0	.	305;352;332;352	O95263-6;O95263-3;O95263-4;O95263	.;.;.;PDE8B_HUMAN	R	305;352;332;352;114	ENSP00000345446:G305R;ENSP00000264917:G352R;ENSP00000345646:G332R;ENSP00000331336:G352R;ENSP00000422861:G114R	ENSP00000264917:G352R	G	+	1	0	PDE8B	76682682	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.494000	0.97962	2.528000	0.85240	0.563000	0.77884	GGG		0.502	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000220015.3	0	NM_003719		5:76646926
UTP18	51096	broad.mit.edu	37	17	49353296	49353296	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:49353296C>A	ENST00000225298.7	+	6	838	c.781C>A	c.(781-783)Ccc>Acc	p.P261T		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	261					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GCAGTTCCATCCCGGTGCACA	0.383																																						ENST00000225298.7		NA																	0				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(781-783)Ccc>Acc		UTP18 small subunit (SSU) processome component homolog (yeast)							92.0	93.0	93.0					17																	49353296		1912	4124	6036	SO:0001583	missense	51096				rRNA processing	nucleolus		g.chr17:49353296C>A	AF151806	CCDS42362.1	17q21.33	2013-05-21	2011-12-09	2006-05-16	ENSG00000011260	ENSG00000011260		"""WD repeat domain containing"""	24274	protein-coding gene	gene with protein product		612816	"""WD repeat domain 50"""	WDR50		10810093, 8619474, 15590835	Standard	NM_016001		Approved	CGI-48	uc002its.3	Q9Y5J1	OTTHUMG00000162370	ENST00000225298.7:c.781C>A	17.37:g.49353296C>A	ENSP00000225298:p.Pro261Thr	True	False		Somatic	0					p.P261T	NM_016001.2	NP_057085.2	WXS	Illumina HiSeq	Phase_I	Q9Y5J1	UTP18_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.09e-07)		6	838	+			261					Q9H4N6	Missense_Mutation	SNP	ENST00000225298.7	37	c.781C>A	CCDS42362.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656868	0.88154	.	.	ENSG00000011260	ENST00000225298;ENST00000508506	T	0.25414	1.8	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58278	0.2111	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.61510	-0.7048	10	0.87932	D	0	-16.6136	18.8399	0.92180	0.0:1.0:0.0:0.0	.	261	Q9Y5J1	UTP18_HUMAN	T	261;237	ENSP00000225298:P261T	ENSP00000225298:P261T	P	+	1	0	UTP18	46708295	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	6.329000	0.72920	2.885000	0.99019	0.655000	0.94253	CCC		0.383	UTP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368654.1	0	NM_016001		17:49353296
THAP4	51078	broad.mit.edu	37	2	242572368	242572368	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:242572368C>T	ENST00000407315.1	-	2	1635	c.1204G>A	c.(1204-1206)Gtc>Atc	p.V402I		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	402							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGATAGGGGACGCTCACTCTC	0.627																																						ENST00000407315.1		NA																	0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(1204-1206)Gtc>Atc		THAP domain containing 4							44.0	42.0	43.0					2																	242572368		2203	4296	6499	SO:0001583	missense	51078						DNA binding|metal ion binding	g.chr2:242572368C>T	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.1204G>A	2.37:g.242572368C>T	ENSP00000385006:p.Val402Ile	False	False		Somatic	0					p.V402I	NM_015963.5	NP_057047.4	WXS	Illumina HiSeq	Phase_I	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	1635	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	402					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	c.1204G>A	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	C	2.394	-0.339085	0.05243	.	.	ENSG00000176946	ENST00000407315;ENST00000512346	D	0.95554	-3.74	5.22	-10.4	0.00318	.	.	.	.	.	T	0.81064	0.4745	N	0.03608	-0.345	0.24018	N	0.996156	B	0.02656	0.0	B	0.01281	0.0	T	0.71431	-0.4595	9	0.21540	T	0.41	-1.1688	1.6018	0.02675	0.138:0.3253:0.2302:0.3065	.	402	Q8WY91	THAP4_HUMAN	I	402;77	ENSP00000385006:V402I	ENSP00000385006:V402I	V	-	1	0	THAP4	242221041	0.234000	0.23783	0.000000	0.03702	0.462000	0.32619	-0.598000	0.05706	-3.708000	0.00117	-2.089000	0.00373	GTC		0.627	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	0	NM_015963		2:242572368
WDR3	10885	broad.mit.edu	37	1	118477263	118477263	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:118477263G>C	ENST00000349139.5	+	3	386	c.339G>C	c.(337-339)ttG>ttC	p.L113F	WDR3_ENST00000369441.3_3'UTR|WDR3_ENST00000471680.1_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	113						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TCACTACCTTGAAGTATGATC	0.478																																						ENST00000349139.4		NA																	0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(337-339)ttG>ttC		WD repeat domain 3							112.0	104.0	107.0					1																	118477263		2203	4300	6503	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118477263G>C	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.339G>C	1.37:g.118477263G>C	ENSP00000308179:p.Leu113Phe	False	False		Somatic	0				WDR3_ENST00000369441.3_3'UTR|WDR3_ENST00000471680.1_3'UTR	p.L113F	NM_006784.2	NP_006775.1	WXS	Illumina HiSeq	Phase_I	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	3	386	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	113						Missense_Mutation	SNP	ENST00000349139.5	37	c.339G>C	CCDS898.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756898	0.69648	.	.	ENSG00000065183	ENST00000349139	T	0.64803	-0.12	5.76	1.42	0.22433	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.169045	0.50627	D	0.000118	T	0.66426	0.2788	M	0.87758	2.905	0.80722	D	1	D	0.65815	0.995	D	0.65987	0.94	T	0.66712	-0.5854	10	0.72032	D	0.01	-9.5395	3.4483	0.07488	0.1398:0.2421:0.4916:0.1265	.	113	Q9UNX4	WDR3_HUMAN	F	113	ENSP00000308179:L113F	ENSP00000308179:L113F	L	+	3	2	WDR3	118278786	1.000000	0.71417	0.937000	0.37676	0.873000	0.50193	0.594000	0.24014	0.406000	0.25560	-0.150000	0.13652	TTG		0.478	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	0	NM_006784		1:118477263
PCDHGC5	56097	broad.mit.edu	37	5	140869580	140869580	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:140869580G>A	ENST00000252087.1	+	1	773	c.773G>A	c.(772-774)gGt>gAt	p.G258D	PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	258	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACCCATTGGTACTCTGCTG	0.517																																						ENST00000252087.1		NA																	0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(772-774)gGt>gAt									177.0	177.0	177.0					5																	140869580		2203	4300	6503	SO:0001583	missense	0				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140869580G>A	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.773G>A	5.37:g.140869580G>A	ENSP00000252087:p.Gly258Asp	False	False		Somatic	0				PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	p.G258D	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	WXS	Illumina HiSeq	Phase_I	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	773	+			258			Cadherin 3.		Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	37	c.773G>A	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638018	0.29157	.	.	ENSG00000240764	ENST00000252087	T	0.04454	3.62	6.08	6.08	0.98989	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000019	T	0.13286	0.0322	M	0.66506	2.035	0.58432	D	0.999995	B;P	0.48294	0.311;0.908	B;P	0.51777	0.334;0.679	T	0.00032	-1.2273	10	0.51188	T	0.08	.	13.4893	0.61386	0.0718:0.0:0.9282:0.0	.	258;258	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	D	258	ENSP00000252087:G258D	ENSP00000252087:G258D	G	+	2	0	PCDHGC5	140849764	1.000000	0.71417	0.569000	0.28460	0.003000	0.03518	5.776000	0.68924	2.890000	0.99128	0.655000	0.94253	GGT		0.517	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	0	NM_018929		5:140869580
PKD1L1	168507	broad.mit.edu	37	7	47842826	47842826	+	Silent	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:47842826G>T	ENST00000289672.2	-	53	7994	c.7944C>A	c.(7942-7944)ccC>ccA	p.P2648P	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2648					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAAAGATGCTGGGGAGTGAGT	0.463																																						ENST00000289672.2		NA																BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(7942-7944)ccC>ccA		polycystic kidney disease 1 like 1							129.0	119.0	122.0					7																	47842826		2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47842826G>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.7944C>A	7.37:g.47842826G>T		True	False		Somatic	0				C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	p.P2648P	NM_138295.3	NP_612152.1	WXS	Illumina HiSeq	Phase_I	Q8TDX9	PK1L1_HUMAN			53	7994	-			2648					Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.7944C>A	CCDS34633.1																																																																																				0.463	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	0	NM_138295		7:47842826
CDYL2	124359	broad.mit.edu	37	16	80718735	80718735	+	Missense_Mutation	SNP	G	G	A	rs377184768		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:80718735G>A	ENST00000570137.2	-	2	471	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	CDYL2_ENST00000566173.1_Missense_Mutation_p.R106W|CDYL2_ENST00000563890.1_Missense_Mutation_p.R106W|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000562812.1_Missense_Mutation_p.R106W	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	106						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						ATTCGCTTCCGTTTATGGGAG	0.557																																						ENST00000299564.8		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(316-318)Cgg>Tgg		chromodomain protein, Y-like 2		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	69.0	69.0	69.0		316	4.2	1.0	16		69	0,8600		0,0,4300	no	missense	CDYL2	NM_152342.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	106/507	80718735	1,13005	2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80718735G>A	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.316C>T	16.37:g.80718735G>A	ENSP00000476295:p.Arg106Trp	True	False		Somatic	0				CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000566173.1_Missense_Mutation_p.R106W|CDYL2_ENST00000563890.1_Missense_Mutation_p.R106W|CDYL2_ENST00000562812.1_Missense_Mutation_p.R106W	p.R106W	NM_152342.2	NP_689555.2	WXS	Illumina HiSeq	Phase_I	Q8N8U2	CDYL2_HUMAN			2	471	-			106					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.316C>T	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.327533	0.60743	2.27E-4	0.0	ENSG00000166446	ENST00000299564	T	0.59364	0.27	5.23	4.24	0.50183	.	0.412335	0.23696	N	0.045479	T	0.64394	0.2594	L	0.29908	0.895	0.49130	D	0.999755	D	0.89917	1.0	D	0.81914	0.995	T	0.67126	-0.5749	10	0.87932	D	0	.	13.7029	0.62620	0.0:0.0:0.7712:0.2288	.	106	Q8N8U2	CDYL2_HUMAN	W	106	ENSP00000299564:R106W	ENSP00000299564:R106W	R	-	1	2	CDYL2	79276236	0.995000	0.38212	1.000000	0.80357	0.702000	0.40608	0.199000	0.17237	2.713000	0.92767	0.655000	0.94253	CGG		0.557	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	0	NM_152342		16:80718735
GRAMD1C	54762	broad.mit.edu	37	3	113595066	113595066	+	Missense_Mutation	SNP	C	C	T	rs199735566		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:113595066C>T	ENST00000358160.4	+	5	910	c.418C>T	c.(418-420)Ctc>Ttc	p.L140F	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	140						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AACTGCTCGACTCATCCCAAA	0.303													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18315	0.0		0.0	False		,,,				2504	0.0					ENST00000358160.4		NA																	0				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						c.(418-420)Ctc>Ttc		GRAM domain containing 1C		C	PHE/LEU	2,4404	4.2+/-10.8	0,2,2201	107.0	114.0	112.0		418	4.3	1.0	3		112	0,8600		0,0,4300	no	missense	GRAMD1C	NM_017577.4	22	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	140/663	113595066	2,13004	2203	4300	6503	SO:0001583	missense	54762					integral to membrane		g.chr3:113595066C>T		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.418C>T	3.37:g.113595066C>T	ENSP00000350881:p.Leu140Phe	False	False		Somatic	0				GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	p.L140F	NM_017577.4	NP_060047.3	WXS	Illumina HiSeq	Phase_I	Q8IYS0	GRM1C_HUMAN			5	910	+			140					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.418C>T	CCDS33826.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.99	3.273860	0.59649	4.54E-4	0.0	ENSG00000178075	ENST00000358160	T	0.37584	1.19	5.2	4.33	0.51752	.	0.154190	0.40728	N	0.001026	T	0.39682	0.1087	M	0.79123	2.44	0.80722	D	1	B	0.25521	0.128	B	0.19666	0.026	T	0.37888	-0.9686	10	0.59425	D	0.04	.	11.6383	0.51217	0.0:0.9126:0.0:0.0874	.	140	Q8IYS0	GRM1C_HUMAN	F	140	ENSP00000350881:L140F	ENSP00000350881:L140F	L	+	1	0	GRAMD1C	115077756	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.219000	0.42899	1.331000	0.45412	0.655000	0.94253	CTC		0.303	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	0	NM_017577		3:113595066
CTAGE5	4253	broad.mit.edu	37	14	39818172	39818172	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:39818172C>G	ENST00000280083.3	+	23	2553	c.2239C>G	c.(2239-2241)Cca>Gca	p.P747A	RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.P1282A|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P718A|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P735A|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P752A|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P718A|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P718A|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P747A|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P704A|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P667A|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P672A			O15320	CTGE5_HUMAN	CTAGE family, member 5	747	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		ACCACCTGCTCCATTTGCAAG	0.408																																						ENST00000553728.1		NA																	0					NA						c.(3844-3846)Cca>Gca									52.0	57.0	55.0					14																	39818172		2195	4291	6486	SO:0001583	missense	0							g.chr14:39818172C>G	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.2239C>G	14.37:g.39818172C>G	ENSP00000280083:p.Pro747Ala	False	False		Somatic	0				CTAGE5_ENST00000341749.3_Missense_Mutation_p.P735A|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P747A|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P718A|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P752A|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P718A|CTAGE5_ENST00000280083.3_Missense_Mutation_p.P747A|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P667A|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P704A|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P672A|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P718A	p.P1282A			WXS	Illumina HiSeq	Phase_I					27	4057	+			NA					B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.3844C>G	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.424878	0.25639	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	5.2	2.32	0.28847	.	0.244291	0.21448	N	0.074364	T	0.81138	0.4760	M	0.81802	2.56	0.19300	N	0.999972	D;D;D;D;D	0.89917	0.992;1.0;0.992;1.0;0.992	P;D;P;D;P	0.85130	0.822;0.997;0.725;0.997;0.725	T	0.68941	-0.5276	9	.	.	.	.	6.7502	0.23483	0.0:0.6936:0.1465:0.1599	.	752;704;747;675;735	O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;CTGE5_HUMAN;.;.	A	1282;735;667;615;718;747;752;747;672;704;718	ENSP00000452252:P1282A;ENSP00000343897:P735A;ENSP00000450869:P667A;ENSP00000379468:P718A;ENSP00000339286:P747A;ENSP00000379462:P752A;ENSP00000280083:P747A;ENSP00000452562:P672A;ENSP00000343912:P704A;ENSP00000450449:P718A	.	P	+	1	0	CTAGE5;RP11-407N17.3	38887923	0.002000	0.14202	0.126000	0.21872	0.090000	0.18270	0.310000	0.19356	0.676000	0.31285	-0.176000	0.13171	CCA		0.408	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	0	NM_005930		14:39818172
KIAA0100	9703	broad.mit.edu	37	17	26971150	26971150	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:26971150G>C	ENST00000528896.2	-	2	198	c.124C>G	c.(124-126)Cta>Gta	p.L42V	KIAA0100_ENST00000544884.1_5'UTR|KIAA0100_ENST00000389003.3_5'UTR	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	42						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CCAATCTTTAGCTCCGCCTGC	0.473											OREG0024280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000528896.2		NA																	0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(124-126)Cta>Gta		KIAA0100							61.0	71.0	68.0					17																	26971150		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26971150G>C	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.124C>G	17.37:g.26971150G>C	ENSP00000436773:p.Leu42Val	False	False		Somatic	0	OREG0024280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	790	KIAA0100_ENST00000544884.1_5'UTR|KIAA0100_ENST00000389003.3_5'UTR	p.L42V	NM_014680.3	NP_055495.2	WXS	Illumina HiSeq	Phase_I	Q14667	K0100_HUMAN			2	198	-	Lung NSC(42;0.00431)		42					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.124C>G	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828801	0.32329	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896	T	0.23552	1.9	5.32	1.1	0.20463	FMP27, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.32971	0.0847	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.83275	0.996;0.992	T	0.01591	-1.1317	10	0.31617	T	0.26	.	8.9329	0.35682	0.3431:0.0:0.6569:0.0	.	42;42	F6XS94;Q14667	.;K0100_HUMAN	V	42	ENSP00000436773:L42V	ENSP00000005905:L42V	L	-	1	2	KIAA0100	23995277	1.000000	0.71417	0.919000	0.36401	0.996000	0.88848	2.540000	0.45727	0.062000	0.16340	0.655000	0.94253	CTA		0.473	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	0	NM_014680		17:26971150
ETV5	2119	broad.mit.edu	37	3	185783686	185783686	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:185783686G>C	ENST00000306376.5	-	8	1072	c.826C>G	c.(826-828)Ccg>Gcg	p.P276A	ETV5_ENST00000434744.1_Missense_Mutation_p.P276A|ETV5_ENST00000480706.1_5'Flank|ETV5_ENST00000537818.1_Missense_Mutation_p.P318A	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	276					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|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 positive regulation of transcription (GO:0001228)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GGCATGCCCGGGACCCCATGT	0.552			T	"""TMPRSS2, SCL45A3"""	Prostate																																	ENST00000306376.5		NA		Dom	yes		3	3q28	2119	T	ets variant gene 5			E	"""TMPRSS2, SCL45A3"""		Prostate		0				breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28						c.(826-828)Ccg>Gcg		ets variant 5							74.0	84.0	80.0					3																	185783686		2203	4300	6503	SO:0001583	missense	2119				cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:185783686G>C	BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.826C>G	3.37:g.185783686G>C	ENSP00000306894:p.Pro276Ala	True	False		Somatic	0				ETV5_ENST00000537818.1_Missense_Mutation_p.P318A|ETV5_ENST00000434744.1_Missense_Mutation_p.P276A	p.P276A	NM_004454.2	NP_004445.1	WXS	Illumina HiSeq	Phase_I	P41161	ETV5_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)		8	1072	-	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		276					A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	ENST00000306376.5	37	c.826C>G	CCDS33906.1	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738599	0.30774	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.24151	1.87;1.87;1.87	6.17	4.36	0.52297	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.053049	0.85682	D	0.000000	T	0.16085	0.0387	N	0.19112	0.55	0.42954	D	0.994381	B;B	0.14438	0.01;0.008	B;B	0.16289	0.015;0.013	T	0.05321	-1.0892	10	0.37606	T	0.19	.	9.3211	0.37964	0.0734:0.0:0.7838:0.1428	.	276;318	P41161;B7Z7D7	ETV5_HUMAN;.	A	276;276;318	ENSP00000306894:P276A;ENSP00000413755:P276A;ENSP00000441737:P318A	ENSP00000306894:P276A	P	-	1	0	ETV5	187266380	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	3.446000	0.52928	0.907000	0.36646	0.655000	0.94253	CCG		0.552	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344947.1	0	NM_004454		3:185783686
RREB1	6239	broad.mit.edu	37	6	7231195	7231195	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:7231195G>A	ENST00000349384.6	+	10	3177	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K	RREB1_ENST00000334984.6_Missense_Mutation_p.E955K|RREB1_ENST00000379938.2_Missense_Mutation_p.E955K|RREB1_ENST00000379933.3_Missense_Mutation_p.E955K	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	955					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CACTCCCAGCGAAGCCAAGAA	0.617																																						ENST00000379938.2		NA																	0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2863-2865)Gaa>Aaa		ras responsive element binding protein 1							28.0	30.0	30.0					6																	7231195		2203	4300	6503	SO:0001583	missense	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231195G>A	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2863G>A	6.37:g.7231195G>A	ENSP00000305560:p.Glu955Lys	False	False		Somatic	0				RREB1_ENST00000379933.3_Missense_Mutation_p.E955K|RREB1_ENST00000349384.6_Missense_Mutation_p.E955K|RREB1_ENST00000334984.6_Missense_Mutation_p.E955K	p.E955K	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	WXS	Illumina HiSeq	Phase_I	Q92766	RREB1_HUMAN			10	3400	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	955					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	c.2863G>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.404290	0.25378	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984	T;T;T;T	0.11604	2.88;2.87;2.88;2.76	4.75	3.88	0.44766	.	0.198485	0.34025	N	0.004340	T	0.03959	0.0111	L	0.40543	1.245	0.30128	N	0.805065	P;P;D	0.56035	0.954;0.956;0.974	B;B;P	0.47251	0.374;0.27;0.542	T	0.11792	-1.0573	10	0.07325	T	0.83	-13.4013	12.3157	0.54955	0.0:0.0:0.6923:0.3077	.	955;955;955	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	K	955	ENSP00000369265:E955K;ENSP00000369270:E955K;ENSP00000305560:E955K;ENSP00000335574:E955K	ENSP00000335574:E955K	E	+	1	0	RREB1	7176194	0.988000	0.35896	0.020000	0.16555	0.182000	0.23217	2.986000	0.49370	1.194000	0.43101	0.655000	0.94253	GAA		0.617	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	0			6:7231195
NCOA2	10499	broad.mit.edu	37	8	71082538	71082538	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:71082538A>G	ENST00000452400.2	-	6	621	c.440T>C	c.(439-441)cTa>cCa	p.L147P		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	147	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTTATACCTTAGATACTGTGT	0.418			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	ENST00000452400.2		NA		Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	"""RUNXBP2, HEY1"""		"""AML, Chondrosarcoma"""	PAX3/NCOA2(4)|HEY1/NCOA2(10)	0				NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60						c.(439-441)cTa>cCa		nuclear receptor coactivator 2							113.0	100.0	104.0					8																	71082538		1893	4116	6009	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71082538A>G	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.440T>C	8.37:g.71082538A>G	ENSP00000399968:p.Leu147Pro	False	False		Somatic	0					p.L147P	NM_006540.2	NP_006531.1	WXS	Illumina HiSeq	Phase_I	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		6	621	-	Breast(64;0.201)		147			PAS.		Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.440T>C	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.567322	0.86439	.	.	ENSG00000140396	ENST00000452400	T	0.24908	1.83	5.49	5.49	0.81192	PAS (2);PAS fold (1);	0.000000	0.85682	D	0.000000	T	0.66761	0.2822	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80125	-0.1513	10	0.87932	D	0	.	15.5729	0.76354	1.0:0.0:0.0:0.0	.	147	Q15596	NCOA2_HUMAN	P	147	ENSP00000399968:L147P	ENSP00000399968:L147P	L	-	2	0	NCOA2	71245092	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.335000	0.96500	2.074000	0.62210	0.528000	0.53228	CTA		0.418	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1	0			8:71082538
PUM1	9698	broad.mit.edu	37	1	31409636	31409636	+	Missense_Mutation	SNP	C	C	T	rs371056869		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:31409636C>T	ENST00000257075.5	-	21	3376	c.3283G>A	c.(3283-3285)Gct>Act	p.A1095T	PUM1_ENST00000373741.4_Missense_Mutation_p.A1133T|PUM1_ENST00000424085.2_Missense_Mutation_p.A853T|PUM1_ENST00000373742.2_Missense_Mutation_p.A1036T|PUM1_ENST00000426105.2_Missense_Mutation_p.A1097T|SNORD103A_ENST00000363284.1_RNA|PUM1_ENST00000373747.3_Missense_Mutation_p.A1098T|PUM1_ENST00000423018.2_Missense_Mutation_p.A953T|PUM1_ENST00000440538.2_Missense_Mutation_p.A1071T	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	1095	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ATGAGCACAGCGCGCTCCGTA	0.507																																						ENST00000373747.3		NA																	0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3292-3294)Gct>Act		pumilio RNA-binding family member 1		C	THR/ALA,THR/ALA	0,4406		0,0,2203	161.0	122.0	136.0		3283,3289	5.8	1.0	1		136	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PUM1	NM_014676.2,NM_001020658.1	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	1095/1187,1097/1189	31409636	1,13005	2203	4300	6503	SO:0001583	missense	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31409636C>T	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.3283G>A	1.37:g.31409636C>T	ENSP00000257075:p.Ala1095Thr	True	False		Somatic	0				PUM1_ENST00000257075.5_Missense_Mutation_p.A1095T|PUM1_ENST00000426105.2_Missense_Mutation_p.A1097T|PUM1_ENST00000424085.2_Missense_Mutation_p.A853T|PUM1_ENST00000423018.2_Missense_Mutation_p.A953T|PUM1_ENST00000373741.4_Missense_Mutation_p.A1133T|PUM1_ENST00000440538.2_Missense_Mutation_p.A1071T|PUM1_ENST00000373742.2_Missense_Mutation_p.A1036T	p.A1098T	NM_001020658.1	NP_001018494.1	WXS	Illumina HiSeq	Phase_I	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	21	3391	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	1095			PUM-HD.		A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Missense_Mutation	SNP	ENST00000257075.5	37	c.3292G>A	CCDS338.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.261608|4.261608	0.80358|0.80358	0.0|0.0	1.16E-4|1.16E-4	ENSG00000134644|ENSG00000134644	ENST00000424085;ENST00000257075;ENST00000373747;ENST00000373749;ENST00000426105;ENST00000440538;ENST00000373741;ENST00000423018;ENST00000373742;ENST00000529846|ENST00000525843;ENST00000498419	T;T;T;T;T;T;T;T;T|T;T	0.13538|0.17213	2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58;2.58|2.29;2.29	5.78|5.78	5.78|5.78	0.91487|0.91487	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.33847|0.33847	0.0877|0.0877	L|L	0.48877|0.48877	1.53|1.53	0.80722|0.80722	D|D	1|1	P;B;B;P;P;B;P;B|.	0.39250|.	0.643;0.326;0.185;0.665;0.643;0.185;0.643;0.257|.	B;B;B;B;B;B;B;B|.	0.26614|.	0.065;0.032;0.015;0.071;0.065;0.007;0.065;0.065|.	T|T	0.00847|0.00847	-1.1542|-1.1542	10|7	0.39692|0.87932	T|D	0.17|0	-7.352|-7.352	20.0137|20.0137	0.97470|0.97470	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1036;953;1133;1071;1095;1097;1098;1097|.	B4DG92;E7EWT3;Q5T1Z8;Q14671-2;Q14671;E9PCJ0;Q5T1Z4;Q53HH5|.	.;.;.;.;PUM1_HUMAN;.;.;.|.	T|H	853;1095;1098;835;1097;1071;1133;953;1036;206|1033;808	ENSP00000400141:A853T;ENSP00000257075:A1095T;ENSP00000362852:A1098T;ENSP00000391723:A1097T;ENSP00000401777:A1071T;ENSP00000362846:A1133T;ENSP00000399440:A953T;ENSP00000362847:A1036T;ENSP00000431213:A206T|ENSP00000435825:R1033H;ENSP00000433850:R808H	ENSP00000257075:A1095T|ENSP00000433850:R808H	A|R	-|-	1|2	0|0	PUM1|PUM1	31182223|31182223	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.705000|0.705000	0.40729|0.40729	7.818000|7.818000	0.86416|0.86416	2.734000|2.734000	0.93682|0.93682	0.563000|0.563000	0.77884|0.77884	GCT|CGC		0.507	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1	0			1:31409636
COL4A4	1286	broad.mit.edu	37	2	227875104	227875104	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:227875104C>A	ENST00000396625.3	-	46	4654	c.4447G>T	c.(4447-4449)Ggc>Tgc	p.G1483C	COL4A4_ENST00000329662.7_Missense_Mutation_p.G1480C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1483	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGGGCATGCCCAGGGGGCAG	0.577																																						ENST00000396625.3		NA																	0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(4447-4449)Ggc>Tgc		collagen, type IV, alpha 4							66.0	67.0	67.0					2																	227875104		1852	4097	5949	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227875104C>A		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4447G>T	2.37:g.227875104C>A	ENSP00000379866:p.Gly1483Cys	True	False		Somatic	0				COL4A4_ENST00000329662.7_Missense_Mutation_p.G1480C	p.G1483C	NM_000092.4	NP_000083.3	WXS	Illumina HiSeq	Phase_I	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	46	4654	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1483			Collagen IV NC1.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.4447G>T	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	C	17.39	3.378418	0.61735	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.95412	-3.7;-3.7	5.69	4.82	0.62117	C-type lectin fold (1);	.	.	.	.	D	0.98476	0.9492	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.99433	1.0936	9	0.87932	D	0	.	14.6375	0.68699	0.0:0.9302:0.0:0.0698	.	1483	P53420	CO4A4_HUMAN	C	1483;1480	ENSP00000379866:G1483C;ENSP00000328553:G1480C	ENSP00000328553:G1480C	G	-	1	0	COL4A4	227583348	1.000000	0.71417	0.985000	0.45067	0.807000	0.45602	7.745000	0.85046	1.418000	0.47098	-0.136000	0.14681	GGC		0.577	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	0	NM_000092		2:227875104
KCNJ12	3768	broad.mit.edu	37	17	21318787	21318787	+	Missense_Mutation	SNP	C	C	T	rs144531040	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:21318787C>T	ENST00000583088.1	+	3	1028	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R45C	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	45					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GTGCCGCAACCGCTTCGTCAA	0.602										Prostate(3;0.18)																												ENST00000583088.1		NA																	0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(133-135)Cgc>Tgc		potassium inwardly-rectifying channel, subfamily J, member 12		C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	145.0	104.0	118.0		133	5.2	1.0	17	dbSNP_134	118	0,8600		0,0,4300	yes	missense	KCNJ12	NM_021012.4	180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	45/434	21318787	2,13004	2203	4300	6503	SO:0001583	missense	3768							g.chr17:21318787C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.133C>T	17.37:g.21318787C>T	ENSP00000463778:p.Arg45Cys	False	False	Prostate(3;0.18)	Somatic	0				KCNJ12_ENST00000331718.5_Missense_Mutation_p.R45C	p.R45C	NM_021012.4	NP_066292.2	WXS	Illumina HiSeq	Phase_I				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1028	+			NA					O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.133C>T	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885465	0.72410	4.54E-4	0.0	ENSG00000184185	ENST00000331718	T	0.62364	0.03	5.21	5.21	0.72293	Potassium channel, inwardly rectifying, Kir, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.76321	0.3971	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78650	-0.2121	10	0.87932	D	0	.	12.9232	0.58245	0.2733:0.7267:0.0:0.0	.	45	Q14500	IRK12_HUMAN	C	45	ENSP00000328150:R45C	ENSP00000328150:R45C	R	+	1	0	KCNJ12	21259380	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.907000	0.56348	2.444000	0.82710	0.591000	0.81541	CGC		0.602	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	0	NM_021012		17:21318787
LAMB4	22798	broad.mit.edu	37	7	107735753	107735753	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:107735753G>A	ENST00000388781.3	-	12	1473	c.1390C>T	c.(1390-1392)Cca>Tca	p.P464S	LAMB4_ENST00000414450.2_Missense_Mutation_p.P464S|LAMB4_ENST00000418464.1_Missense_Mutation_p.P464S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P464S|LAMB4_ENST00000388780.3_Missense_Mutation_p.P464S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	464	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GTCAAGAATGGCAGACTCCCA	0.453																																						ENST00000388781.3		NA																	0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(1390-1392)Cca>Tca		laminin, beta 4							99.0	84.0	89.0					7																	107735753		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107735753G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1390C>T	7.37:g.107735753G>A	ENSP00000373433:p.Pro464Ser	False	False		Somatic	0				LAMB4_ENST00000388780.3_Missense_Mutation_p.P464S|LAMB4_ENST00000414450.2_Missense_Mutation_p.P464S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P464S	p.P464S	NM_007356.2	NP_031382.2	WXS	Illumina HiSeq	Phase_I	A4D0S4	LAMB4_HUMAN			12	1473	-			464			Laminin EGF-like 4.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.1390C>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	12.26	1.883555	0.33255	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000388780;ENST00000418464;ENST00000414450	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	4.57	3.68	0.42216	EGF-like, laminin (3);	0.000000	0.49916	D	0.000125	T	0.47857	0.1468	N	0.11818	0.18	0.28207	N	0.927093	D	0.53619	0.961	P	0.52957	0.714	T	0.41752	-0.9491	10	0.30854	T	0.27	.	11.8605	0.52463	0.0:0.0:0.5519:0.4481	.	464	A4D0S4	LAMB4_HUMAN	S	464	ENSP00000205386:P464S;ENSP00000373433:P464S;ENSP00000373432:P464S;ENSP00000402353:P464S;ENSP00000402265:P464S	ENSP00000205386:P464S	P	-	1	0	LAMB4	107522989	0.956000	0.32656	0.630000	0.29268	0.886000	0.51366	1.029000	0.30140	1.128000	0.42052	0.549000	0.68633	CCA		0.453	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	0	XM_209857		7:107735753
NCAPG	64151	broad.mit.edu	37	4	17839269	17839269	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:17839269G>C	ENST00000251496.2	+	16	2487	c.2311G>C	c.(2311-2313)Gaa>Caa	p.E771Q		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	771					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GGAATGCTTTGAAGAAGCTTT	0.358																																						ENST00000251496.2		NA																	0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2311-2313)Gaa>Caa		non-SMC condensin I complex, subunit G							150.0	150.0	150.0					4																	17839269		2203	4300	6503	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17839269G>C	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2311G>C	4.37:g.17839269G>C	ENSP00000251496:p.Glu771Gln	True	False		Somatic	0					p.E771Q	NM_022346.3	NP_071741.2	WXS	Illumina HiSeq	Phase_I	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	16	2487	+			771					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.2311G>C	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.257970	0.80246	.	.	ENSG00000109805	ENST00000251496	T	0.31769	1.48	5.55	4.71	0.59529	Armadillo-type fold (1);	0.044582	0.85682	D	0.000000	T	0.54565	0.1866	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.56517	-0.7966	10	0.45353	T	0.12	-21.4946	14.1271	0.65228	0.0721:0.0:0.9279:0.0	.	771	Q9BPX3	CND3_HUMAN	Q	771	ENSP00000251496:E771Q	ENSP00000251496:E771Q	E	+	1	0	NCAPG	17448367	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.813000	0.91963	1.339000	0.45563	0.591000	0.81541	GAA		0.358	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	0	NM_022346		4:17839269
CFH	3075	broad.mit.edu	37	1	196695962	196695962	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:196695962T>C	ENST00000367429.4	+	14	2368	c.2128T>C	c.(2128-2130)Tac>Cac	p.Y710H		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	710	Sushi 12. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCCTCCTTATTACTATGGAGA	0.393																																						ENST00000367429.4		NA																	0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(2128-2130)Tac>Cac		complement factor H							109.0	109.0	109.0					1																	196695962		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196695962T>C	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2128T>C	1.37:g.196695962T>C	ENSP00000356399:p.Tyr710His	False	False		Somatic	0					p.Y710H	NM_000186.3	NP_000177.2	WXS	Illumina HiSeq	Phase_I	P08603	CFAH_HUMAN			14	2368	+			710			Sushi 12.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.2128T>C	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	T	1.622	-0.521227	0.04171	.	.	ENSG00000000971	ENST00000367429	T	0.64085	-0.08	5.8	1.14	0.20703	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.29882	0.0747	N	0.01003	-1.06	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.23476	-1.0187	9	0.39692	T	0.17	.	8.5839	0.33646	0.0:0.6377:0.0:0.3623	.	710	P08603	CFAH_HUMAN	H	710	ENSP00000356399:Y710H	ENSP00000356399:Y710H	Y	+	1	0	CFH	194962585	0.017000	0.18338	0.468000	0.27192	0.386000	0.30323	-0.083000	0.11286	0.318000	0.23185	-0.250000	0.11733	TAC		0.393	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	0	NM_000186		1:196695962
MAGED2	10916	broad.mit.edu	37	X	54841940	54841940	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:54841940C>A	ENST00000375068.1	+	12	1879	c.1646C>A	c.(1645-1647)aCt>aAt	p.T549N	MAGED2_ENST00000375062.4_Missense_Mutation_p.T464N|MAGED2_ENST00000218439.4_Missense_Mutation_p.T549N|MAGED2_ENST00000375058.1_Missense_Mutation_p.T549N|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375060.1_Missense_Mutation_p.T464N|MAGED2_ENST00000375053.2_Missense_Mutation_p.T549N|MAGED2_ENST00000396224.1_Missense_Mutation_p.T549N|MAGED2_ENST00000347546.4_Missense_Mutation_p.T531N			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	549						membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						agtgccagcactggtgccagt	0.597																																						ENST00000375068.1		NA																	0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(1645-1647)aCt>aAt		melanoma antigen family D, 2							33.0	27.0	29.0					X																	54841940		2197	4293	6490	SO:0001583	missense	10916							g.chrX:54841940C>A	AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1646C>A	X.37:g.54841940C>A	ENSP00000364209:p.Thr549Asn	False	False		Somatic	0				MAGED2_ENST00000375058.1_Missense_Mutation_p.T549N|MAGED2_ENST00000218439.4_Missense_Mutation_p.T549N|MAGED2_ENST00000347546.3_Missense_Mutation_p.T493N|MAGED2_ENST00000343474.6_Missense_Mutation_p.T531N|MAGED2_ENST00000375053.2_Missense_Mutation_p.T549N|MAGED2_ENST00000375062.4_Missense_Mutation_p.T464N|MAGED2_ENST00000396224.1_Missense_Mutation_p.T549N|MAGED2_ENST00000375060.1_Missense_Mutation_p.T464N	p.T549N			WXS	Illumina HiSeq	Phase_I	Q9UNF1	MAGD2_HUMAN			12	1879	+			549					A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	c.1646C>A	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	C	3.309	-0.141160	0.06669	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.42513	4.04;4.04;4.1;4.01;0.97;4.04;4.04;0.97;4.04	4.21	2.36	0.29203	.	0.474225	0.17920	N	0.157539	T	0.27629	0.0679	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20472	-1.0274	10	0.59425	D	0.04	.	8.9422	0.35736	0.4:0.6:0.0:0.0	.	464;549	Q5H907;Q9UNF1	.;MAGD2_HUMAN	N	549;549;493;531;464;549;549;464;549	ENSP00000364209:T549N;ENSP00000364193:T549N;ENSP00000336962:T493N;ENSP00000340290:T531N;ENSP00000364202:T464N;ENSP00000218439:T549N;ENSP00000364198:T549N;ENSP00000364200:T464N;ENSP00000379526:T549N	ENSP00000218439:T549N	T	+	2	0	MAGED2	54858665	0.007000	0.16637	0.001000	0.08648	0.045000	0.14185	0.681000	0.25320	0.314000	0.23086	0.513000	0.50165	ACT		0.597	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	0	NM_014599		X:54841940
PRKD3	23683	broad.mit.edu	37	2	37520399	37520399	+	Missense_Mutation	SNP	A	A	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:37520399A>C	ENST00000379066.1	-	3	1066	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	PRKD3_ENST00000234179.2_Missense_Mutation_p.F102V			O94806	KPCD3_HUMAN	protein kinase D3	102					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ATGCCAAAGAATCCACACTCT	0.333																																					Melanoma(80;621 1355 8613 11814 51767)	ENST00000379066.1		NA																	0				breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(304-306)Ttc>Gtc		protein kinase D3							87.0	82.0	84.0					2																	37520399		2203	4300	6503	SO:0001583	missense	23683				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr2:37520399A>C	AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.304T>G	2.37:g.37520399A>C	ENSP00000368356:p.Phe102Val	False	False		Somatic	0				PRKD3_ENST00000234179.2_Missense_Mutation_p.F102V	p.F102V			WXS	Illumina HiSeq	Phase_I	O94806	KPCD3_HUMAN			3	1066	-		all_hematologic(82;0.21)	102					D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	c.304T>G	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.260900	0.80246	.	.	ENSG00000115825	ENST00000379066;ENST00000234179	T;T	0.65549	-0.16;-0.16	5.32	4.13	0.48395	.	0.056727	0.64402	N	0.000001	T	0.62986	0.2473	L	0.47716	1.5	0.58432	D	0.999999	P;B	0.36633	0.562;0.427	P;B	0.45794	0.493;0.235	T	0.62553	-0.6830	10	0.49607	T	0.09	-12.2843	12.4041	0.55430	0.8592:0.1408:0.0:0.0	.	102;102	O94806-2;O94806	.;KPCD3_HUMAN	V	102	ENSP00000368356:F102V;ENSP00000234179:F102V	ENSP00000234179:F102V	F	-	1	0	PRKD3	37373903	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.287000	0.95975	0.914000	0.36822	0.533000	0.62120	TTC		0.333	PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	0	NM_005813		2:37520399
TECTA	7007	broad.mit.edu	37	11	121028674	121028674	+	Missense_Mutation	SNP	G	G	A	rs527976707		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:121028674G>A	ENST00000392793.1	+	14	4701	c.4430G>A	c.(4429-4431)cGc>cAc	p.R1477H	TECTA_ENST00000264037.2_Missense_Mutation_p.R1477H			O75443	TECTA_HUMAN	tectorin alpha	1477					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AACGGGGTGCGCGGCTGCTTC	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		11888	0.0		0.0	False		,,,				2504	0.001					ENST00000392793.1		NA																TECTA/TBCEL(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135						c.(4429-4431)cGc>cAc		tectorin alpha							40.0	37.0	38.0					11																	121028674		2203	4298	6501	SO:0001583	missense	7007				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:121028674G>A	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.4430G>A	11.37:g.121028674G>A	ENSP00000376543:p.Arg1477His	False	False		Somatic	0				TECTA_ENST00000264037.2_Missense_Mutation_p.R1477H	p.R1477H			WXS	Illumina HiSeq	Phase_I	O75443	TECTA_HUMAN		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)	14	4701	+	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)	1477						Missense_Mutation	SNP	ENST00000392793.1	37	c.4430G>A	CCDS8434.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397066	0.83120	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.04970	3.52;3.52	5.69	5.69	0.88448	von Willebrand factor, type D domain (1);VWC out (1);	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.31926	0.97	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.17137	-1.0379	10	0.14656	T	0.56	.	19.8006	0.96506	0.0:0.0:1.0:0.0	.	1477	O75443	TECTA_HUMAN	H	1477	ENSP00000376543:R1477H;ENSP00000264037:R1477H	ENSP00000264037:R1477H	R	+	2	0	TECTA	120533884	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.508000	0.98000	2.687000	0.91594	0.462000	0.41574	CGC		0.687	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313850.1	0	NM_005422		11:121028674
TTN	7273	broad.mit.edu	37	2	179456474	179456474	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:179456474C>G	ENST00000591111.1	-	253	55373	c.55149G>C	c.(55147-55149)tgG>tgC	p.W18383C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W20024C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W17456C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W11151C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W11084C|TTN_ENST00000460472.2_Missense_Mutation_p.W10959C|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18383	Fibronectin type-III 33. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAATTTAATCCAGTCCTGGG	0.423																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60070-60072)tgG>tgC		titin							123.0	116.0	118.0					2																	179456474		1867	4103	5970	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179456474C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55149G>C	2.37:g.179456474C>G	ENSP00000465570:p.Trp18383Cys	False	False		Somatic	0				TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W10959C|TTN_ENST00000359218.5_Missense_Mutation_p.W11084C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W11151C|TTN_ENST00000591111.1_Missense_Mutation_p.W18383C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W17456C|TTN-AS1_ENST00000592630.1_RNA	p.W20024C	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		303	60296	-			18383			Fibronectin type-III 45.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.60072G>C		.	.	.	.	.	.	.	.	.	.	C	15.41	2.824565	0.50739	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85440	0.5697	H	0.98754	4.32	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.90151	0.4221	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	10959;11084;11151;18383	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	17456;10959;11151;11084;10957	ENSP00000343764:W17456C;ENSP00000434586:W10959C;ENSP00000340554:W11151C;ENSP00000352154:W11084C	ENSP00000340554:W11151C	W	-	3	0	TTN	179164720	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	TGG		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179456474
DAGLA	747	broad.mit.edu	37	11	61508664	61508664	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:61508664G>A	ENST00000257215.5	+	19	2130	c.2014G>A	c.(2014-2016)Gct>Act	p.A672T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	672					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGGGAAGACCGCTCTGCTCTC	0.637																																						ENST00000257215.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43						c.(2014-2016)Gct>Act		diacylglycerol lipase, alpha							98.0	84.0	89.0					11																	61508664		2202	4299	6501	SO:0001583	missense	747				cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	g.chr11:61508664G>A	AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2014G>A	11.37:g.61508664G>A	ENSP00000257215:p.Ala672Thr	True	False		Somatic	0					p.A672T	NM_006133.2	NP_006124.1	WXS	Illumina HiSeq	Phase_I	Q9Y4D2	DGLA_HUMAN		READ - Rectum adenocarcinoma(4;0.219)	19	2130	+			672					A7E233|Q6WQJ0	Missense_Mutation	SNP	ENST00000257215.5	37	c.2014G>A	CCDS31578.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295157	0.60086	.	.	ENSG00000134780	ENST00000257215	T	0.29655	1.56	3.73	3.73	0.42828	.	0.056336	0.64402	D	0.000001	T	0.43986	0.1272	L	0.34521	1.04	0.58432	D	0.999999	D	0.76494	0.999	D	0.72625	0.978	T	0.42949	-0.9421	10	0.48119	T	0.1	-13.0611	16.4468	0.83936	0.0:0.0:1.0:0.0	.	672	Q9Y4D2	DGLA_HUMAN	T	672	ENSP00000257215:A672T	ENSP00000257215:A672T	A	+	1	0	DAGLA	61265240	1.000000	0.71417	0.852000	0.33557	0.619000	0.37552	9.441000	0.97557	2.039000	0.60335	0.456000	0.33151	GCT		0.637	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398516.1	0	NM_006133		11:61508664
RNF213	57674	broad.mit.edu	37	17	78324169	78324169	+	Missense_Mutation	SNP	G	G	A	rs568680037		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:78324169G>A	ENST00000582970.1	+	31	10300	c.10157G>A	c.(10156-10158)cGt>cAt	p.R3386H	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R1459H|RNF213_ENST00000508628.2_Missense_Mutation_p.R3435H	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3386					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATGGAATCCGTAGCGCCCAG	0.353													g|||	1	0.000199681	0.0	0.0014	5008	,	,		17790	0.0		0.0	False		,,,				2504	0.0					ENST00000582970.1		NA																	0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(10156-10158)cGt>cAt		ring finger protein 213							97.0	98.0	98.0					17																	78324169		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78324169G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10157G>A	17.37:g.78324169G>A	ENSP00000464087:p.Arg3386His	False	False		Somatic	0				RNF213_ENST00000336301.6_Missense_Mutation_p.R1459H|RNF213_ENST00000508628.2_Missense_Mutation_p.R3435H	p.R3386H	NM_001256071.1	NP_001243000.1	WXS	Illumina HiSeq	Phase_I	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		31	10300	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.10157G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	g	5.030	0.191195	0.09547	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.17528	2.27	5.0	-1.62	0.08372	.	0.947517	0.08876	N	0.880757	T	0.06325	0.0163	N	0.02736	-0.51	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42565	-0.9444	10	0.22109	T	0.4	.	7.9091	0.29780	0.4707:0.0:0.4235:0.1057	.	1459	Q63HN8	RN213_HUMAN	H	3386;3435;1459	ENSP00000338218:R1459H	ENSP00000338218:R1459H	R	+	2	0	RNF213	75938764	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	0.460000	0.21924	-0.543000	0.06240	-0.285000	0.09966	CGT		0.353	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	0	NM_020914		17:78324169
GBAP1	2630	broad.mit.edu	37	1	155188655	155188655	+	RNA	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:155188655G>C	ENST00000486869.1	-	0	79					NR_002188.2				glucosidase, beta, acid pseudogene 1																		GGAAGGACTTGAAAACTCCAT	0.463																																						ENST00000486869.1		NA																	0					NA																																														0							g.chr1:155188655G>C	J03060		1q22	2012-11-19	2010-01-19	2010-01-19	ENSG00000160766	ENSG00000160766			4178	pseudogene	pseudogene			"""glucosidase, beta; acid, pseudogene"""	GBAP			Standard	NR_002188		Approved		uc001fjd.3		OTTHUMG00000176393		1.37:g.155188655G>C		True	False		Somatic	0						NR_002188.2		WXS	Illumina HiSeq	Phase_I					0	79	-			NA						RNA	SNP	ENST00000486869.1	37																																																																																						0.463	GBAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000087219.2	0	NR_002188.2		1:155188655
TPP2	7174	broad.mit.edu	37	13	103301346	103301346	+	Silent	SNP	T	T	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr13:103301346T>A	ENST00000376065.4	+	22	2754	c.2718T>A	c.(2716-2718)ctT>ctA	p.L906L	TPP2_ENST00000376052.3_Silent_p.L906L	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	906					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTAAAGACCTTCCATTTATTG	0.338																																						ENST00000376052.3		NA																	0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(2716-2718)ctT>ctA		tripeptidyl peptidase II							131.0	133.0	132.0					13																	103301346		2203	4300	6503	SO:0001819	synonymous_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103301346T>A	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2718T>A	13.37:g.103301346T>A		False	False		Somatic	0				TPP2_ENST00000376065.4_Silent_p.L906L	p.L906L			WXS	Illumina HiSeq	Phase_I	P29144	TPP2_HUMAN			22	2734	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		906					Q5VZU8	Silent	SNP	ENST00000376065.4	37	c.2718T>A	CCDS9502.1																																																																																				0.338	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2	0			13:103301346
MEGF8	1954	broad.mit.edu	37	19	42848986	42848986	+	Splice_Site	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:42848986G>C	ENST00000251268.6	+	12	2097		c.e12+1		MEGF8_ENST00000334370.4_Splice_Site	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8						BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCTGACAAGGTGGGTAGGAG	0.542																																						ENST00000334370.4		NA																	0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.e12+1		multiple EGF-like-domains 8							60.0	61.0	61.0					19																	42848986		2203	4300	6503	SO:0001630	splice_region_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42848986G>C	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2097+1G>C	19.37:g.42848986G>C		False	False		Somatic	0				MEGF8_ENST00000251268.6_Splice_Site		NM_001410.2	NP_001401.2	WXS	Illumina HiSeq	Phase_I	Q7Z7M0	MEGF8_HUMAN			12	2732	+		Prostate(69;0.00682)	NA					A8KAY0|O75097	Splice_Site	SNP	ENST00000251268.6	37			.	.	.	.	.	.	.	.	.	.	g	16.72	3.201977	0.58234	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	4.93	4.93	0.64822	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.638	0.76970	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MEGF8	47540826	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	8.593000	0.90832	2.288000	0.76882	0.457000	0.33378	.		0.542	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	0	NM_001410	Intron	19:42848986
EPHB4	2050	broad.mit.edu	37	7	100421350	100421350	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:100421350C>T	ENST00000358173.3	-	3	795	c.327G>A	c.(325-327)gaG>gaA	p.E109E	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.E109E|RN7SL750P_ENST00000582814.1_RNA	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	109	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGGTGAAGGTCTCCTTGCAGG	0.667																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3		NA																	0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(325-327)gaG>gaA		EPH receptor B4							65.0	62.0	63.0					7																	100421350		2203	4300	6503	SO:0001819	synonymous_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100421350C>T	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.327G>A	7.37:g.100421350C>T		False	False		Somatic	0				EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.E109E	p.E109E	NM_004444.4	NP_004435.3	WXS	Illumina HiSeq	Phase_I	P54760	EPHB4_HUMAN			3	795	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		109					B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	c.327G>A	CCDS5706.1																																																																																				0.667	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	0	NM_004444		7:100421350
C16orf70	80262	broad.mit.edu	37	16	67166803	67166803	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:67166803C>T	ENST00000219139.3	+	6	627	c.439C>T	c.(439-441)Cca>Tca	p.P147S	C16orf70_ENST00000569600.1_Missense_Mutation_p.P147S|C16orf70_ENST00000569683.1_3'UTR	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	147										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GACTGAGGCTCCAAAGTATGA	0.512																																						ENST00000219139.3		NA																	0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17						c.(439-441)Cca>Tca		chromosome 16 open reading frame 70							172.0	158.0	163.0					16																	67166803		2200	4300	6500	SO:0001583	missense	80262							g.chr16:67166803C>T	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.439C>T	16.37:g.67166803C>T	ENSP00000219139:p.Pro147Ser	False	False		Somatic	0				C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.P147S	p.P147S	NM_025187.3	NP_079463.2	WXS	Illumina HiSeq	Phase_I	Q9BSU1	CP070_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)	6	627	+		Ovarian(137;0.192)	147					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.439C>T	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.294667	0.60086	.	.	ENSG00000125149	ENST00000219139	.	.	.	6.05	6.05	0.98169	.	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	N	0.10874	0.06	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.45425	-0.9262	9	0.09084	T	0.74	-10.8823	18.1025	0.89510	0.0:1.0:0.0:0.0	.	222;147	Q9BSU1-2;Q9BSU1	.;CP070_HUMAN	S	147	.	ENSP00000219139:P147S	P	+	1	0	C16orf70	65724304	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.624000	0.83124	2.866000	0.98385	0.650000	0.86243	CCA		0.512	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	0	NM_025187		16:67166803
ZNF619	285267	broad.mit.edu	37	3	40529155	40529155	+	Missense_Mutation	SNP	C	C	T	rs139131960	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:40529155C>T	ENST00000314686.5	+	6	1511	c.1106C>T	c.(1105-1107)tCg>tTg	p.S369L	ZNF619_ENST00000456778.1_Missense_Mutation_p.S341L|ZNF619_ENST00000522736.1_Missense_Mutation_p.S376L|ZNF619_ENST00000432264.2_Missense_Mutation_p.S385L|ZNF619_ENST00000429348.2_Missense_Mutation_p.S385L|ZNF619_ENST00000447116.2_Missense_Mutation_p.S425L|ZNF619_ENST00000521353.1_Missense_Mutation_p.S425L|ZNF619_ENST00000520737.1_3'UTR			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CACCGCAGTTCGGTATTTCTT	0.443													c|||	4	0.000798722	0.0023	0.0	5008	,	,		21349	0.0		0.0	False		,,,				2504	0.001					ENST00000447116.2		NA																	0				breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1273-1275)tCg>tTg		zinc finger protein 619		C	LEU/SER,LEU/SER,LEU/SER	2,4404	4.2+/-10.8	0,2,2201	62.0	65.0	64.0		1274,1022,1154	1.5	0.0	3	dbSNP_134	64	0,8600		0,0,4300	yes	missense,missense,missense	ZNF619	NM_001145082.2,NM_001145083.1,NM_001145093.2	145,145,145	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	425/617,341/533,385/577	40529155	2,13004	2203	4300	6503	SO:0001583	missense	285267				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr3:40529155C>T	AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.1106C>T	3.37:g.40529155C>T	ENSP00000322529:p.Ser369Leu	False	False		Somatic	0				ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Missense_Mutation_p.S425L|ZNF619_ENST00000456778.1_Missense_Mutation_p.S341L|ZNF619_ENST00000432264.2_Missense_Mutation_p.S385L|ZNF619_ENST00000429348.2_Missense_Mutation_p.S385L|ZNF619_ENST00000522736.1_Missense_Mutation_p.S376L|ZNF619_ENST00000314686.5_Missense_Mutation_p.S369L	p.S425L	NM_001145082.2	NP_001138554.1	WXS	Illumina HiSeq	Phase_I	E9PCD9	E9PCD9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)	6	1581	+			425					B4E271|C9JRN5|D4PHA2|E9PCD9	Missense_Mutation	SNP	ENST00000314686.5	37	c.1274C>T		2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	7.811	0.715641	0.15306	4.54E-4	0.0	ENSG00000177873	ENST00000314686;ENST00000447116;ENST00000429348;ENST00000456778;ENST00000522736;ENST00000521353;ENST00000432264	T;T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25;2.25	2.44	1.51	0.23008	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26593	0.0650	M	0.81179	2.53	0.09310	N	1	D;P;P;D;P;P	0.67145	0.996;0.839;0.839;0.96;0.839;0.921	P;B;B;B;B;B	0.49683	0.619;0.071;0.071;0.394;0.098;0.118	T	0.14980	-1.0453	9	0.72032	D	0.01	.	4.6774	0.12719	0.2336:0.4962:0.2702:0.0	.	341;385;425;327;376;369	B4E271;C9JRN5;E9PCD9;B7Z9B3;Q17RW3;Q8N2I2	.;.;.;.;.;ZN619_HUMAN	L	369;425;385;341;376;425;385	ENSP00000322529:S369L;ENSP00000411132:S425L;ENSP00000398024:S385L;ENSP00000397232:S341L;ENSP00000428004:S376L;ENSP00000430705:S425L;ENSP00000388710:S385L	ENSP00000322529:S369L	S	+	2	0	ZNF619	40504159	0.000000	0.05858	0.001000	0.08648	0.014000	0.08584	-1.135000	0.03225	0.342000	0.23796	0.563000	0.77884	TCG		0.443	ZNF619-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254180.2	0	NM_173656		3:40529155
DHX38	9785	broad.mit.edu	37	16	72138480	72138480	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:72138480C>T	ENST00000268482.3	+	15	2615	c.2106C>T	c.(2104-2106)ttC>ttT	p.F702F	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	702	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				TCCCCATCTTCCACATCCCTG	0.537																																					Melanoma(97;711 1442 7855 13832 28836)	ENST00000268482.3		NA																	0				endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48						c.(2104-2106)ttC>ttT		DEAH (Asp-Glu-Ala-His) box polypeptide 38							250.0	189.0	210.0					16																	72138480		2198	4300	6498	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72138480C>T	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2106C>T	16.37:g.72138480C>T		False	False		Somatic	0				DHX38_ENST00000536867.1_Intron	p.F702F	NM_014003.3	NP_054722.2	WXS	Illumina HiSeq	Phase_I	Q92620	PRP16_HUMAN			15	2615	+		Ovarian(137;0.125)	702			Helicase ATP-binding.		B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.2106C>T	CCDS10907.1																																																																																				0.537	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	0	NM_014003		16:72138480
PCDHB2	56133	broad.mit.edu	37	5	140475321	140475321	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:140475321C>T	ENST00000194155.4	+	1	1095	c.947C>T	c.(946-948)aCa>aTa	p.T316I		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	316	Cadherin 3. {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)			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)			TCCATCCAGACATACACAGTA	0.423																																						ENST00000194155.4		NA																	0				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						c.(946-948)aCa>aTa									94.0	96.0	95.0					5																	140475321		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140475321C>T	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.947C>T	5.37:g.140475321C>T	ENSP00000194155:p.Thr316Ile	False	False		Somatic	0					p.T316I	NM_018936.2	NP_061759.1	WXS	Illumina HiSeq	Phase_I	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1095	+			316			Cadherin 3.		Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.947C>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	C	2.170	-0.390128	0.04932	.	.	ENSG00000112852	ENST00000194155	T	0.52057	0.68	5.38	0.0927	0.14474	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.31420	0.0796	L	0.38733	1.17	0.09310	N	1	B	0.22541	0.071	B	0.21546	0.035	T	0.22556	-1.0213	9	0.23302	T	0.38	.	4.5758	0.12232	0.3845:0.2605:0.2888:0.0662	.	316	Q9Y5E7	PCDB2_HUMAN	I	316	ENSP00000194155:T316I	ENSP00000194155:T316I	T	+	2	0	PCDHB2	140455505	0.000000	0.05858	0.135000	0.22099	0.049000	0.14656	-3.545000	0.00435	0.020000	0.15106	0.650000	0.86243	ACA		0.423	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	0	NM_018936		5:140475321
PCYT2	5833	broad.mit.edu	37	17	79866869	79866869	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:79866869C>T	ENST00000538936.2	-	3	331	c.223G>A	c.(223-225)Gag>Aag	p.E75K	PCYT2_ENST00000570391.1_Missense_Mutation_p.E43K|PCYT2_ENST00000538721.2_Missense_Mutation_p.E75K|PCYT2_ENST00000570388.1_5'UTR|PCYT2_ENST00000331285.3_5'UTR|PCYT2_ENST00000571105.1_Missense_Mutation_p.E75K	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	Q99447	PCY2_HUMAN	phosphate cytidylyltransferase 2, ethanolamine	75					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)	ethanolamine-phosphate cytidylyltransferase activity (GO:0004306)			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		Lamivudine(DB00709)	TTGTATCTCTCCTCCTGAGTG	0.592																																						ENST00000538936.2		NA																	0				breast(2)|endometrium(1)|lung(4)|ovary(1)	8						c.(223-225)Gag>Aag		phosphate cytidylyltransferase 2, ethanolamine							114.0	115.0	115.0					17																	79866869		2203	4296	6499	SO:0001583	missense	5833				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity	g.chr17:79866869C>T	D84307	CCDS11791.1, CCDS54178.1, CCDS58610.1, CCDS62364.1	17q25.3	2008-07-18				ENSG00000185813			8756	protein-coding gene	gene with protein product		602679				9083101	Standard	XM_005256386		Approved	ET	uc002kch.2	Q99447		ENST00000538936.2:c.223G>A	17.37:g.79866869C>T	ENSP00000439245:p.Glu75Lys	True	False		Somatic	0				PCYT2_ENST00000331285.3_5'UTR|PCYT2_ENST00000570388.1_5'UTR|PCYT2_ENST00000570391.1_Missense_Mutation_p.E43K|PCYT2_ENST00000538721.2_Missense_Mutation_p.E75K|PCYT2_ENST00000571105.1_Missense_Mutation_p.E75K	p.E75K	NM_001256435.1|NM_002861.3	NP_001243364.1|NP_002852.1	WXS	Illumina HiSeq	Phase_I	Q99447	PCY2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		3	331	-	all_neural(118;0.0878)|Ovarian(332;0.12)		75			Catalytic 1 (Potential).		B7Z7A5|B7ZAS0|F5H8B1|Q6IBM3|Q96G08	Missense_Mutation	SNP	ENST00000538936.2	37	c.223G>A	CCDS11791.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206311	0.95033	.	.	ENSG00000185813	ENST00000538721;ENST00000538936	D;D	0.97256	-4.31;-4.31	4.25	4.25	0.50352	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.000000	0.85682	D	0.000000	D	0.98704	0.9565	M	0.91140	3.18	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;0.999;1.0	D	0.99793	1.1032	10	0.87932	D	0	-43.1461	16.8397	0.85965	0.0:1.0:0.0:0.0	.	43;43;75;75	B7Z4W6;B7ZAS0;F5H8B1;Q99447	.;.;.;PCY2_HUMAN	K	75	ENSP00000442050:E75K;ENSP00000439245:E75K	ENSP00000442050:E75K	E	-	1	0	PCYT2	77460161	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.330000	0.65899	2.197000	0.70478	0.561000	0.74099	GAG		0.592	PCYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439939.1	0	NM_002861		17:79866869
MKI67	4288	broad.mit.edu	37	10	129903384	129903384	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:129903384C>G	ENST00000368654.3	-	13	7095	c.6720G>C	c.(6718-6720)aaG>aaC	p.K2240N	MKI67_ENST00000368653.3_Missense_Mutation_p.K1880N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2240	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGAGACTTCTCTTGGACTGTG	0.498																																						ENST00000368654.3		NA																	0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(6718-6720)aaG>aaC		marker of proliferation Ki-67							264.0	253.0	257.0					10																	129903384		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903384C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6720G>C	10.37:g.129903384C>G	ENSP00000357643:p.Lys2240Asn	False	False		Somatic	0				MKI67_ENST00000368653.3_Missense_Mutation_p.K1880N	p.K2240N	NM_002417.4	NP_002408.3	WXS	Illumina HiSeq	Phase_I	P46013	KI67_HUMAN			13	7095	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2240			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.6720G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.061815	0.36373	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03635	3.86;3.86	3.07	2.15	0.27550	.	0.672301	0.12961	N	0.425010	T	0.12433	0.0302	M	0.68952	2.095	0.09310	N	1	D;D;D	0.76494	0.991;0.992;0.999	P;D;D	0.72982	0.8;0.921;0.979	T	0.12066	-1.0562	10	0.30078	T	0.28	.	8.7284	0.34483	0.0:0.8779:0.0:0.1221	.	2239;1880;2240	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	N	2240;1880;2239	ENSP00000357643:K2240N;ENSP00000357642:K1880N	ENSP00000357642:K1880N	K	-	3	2	MKI67	129793374	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.058000	0.14301	1.716000	0.51395	0.561000	0.74099	AAG		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	0	NM_002417		10:129903384
AIMP1	9255	broad.mit.edu	37	4	107252827	107252827	+	Splice_Site	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:107252827A>G	ENST00000442366.1	+	5	443		c.e5-1		AIMP1_ENST00000394701.4_Splice_Site|AIMP1_ENST00000358008.3_Splice_Site	NM_001142415.1	NP_001135887.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|negative regulation of endothelial cell proliferation (GO:0001937)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						AATACTTTTTAGGAGAGAAGA	0.358																																						ENST00000394701.4		NA																	0				breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						c.e5-1		aminoacyl tRNA synthetase complex-interacting multifunctional protein 1							66.0	71.0	70.0					4																	107252827		2200	4298	6498	SO:0001630	splice_region_variant	9255				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding	g.chr4:107252827A>G	U10117	CCDS3674.1, CCDS47121.1	4q24	2009-05-20	2009-05-20	2009-05-20	ENSG00000164022	ENSG00000164022			10648	protein-coding gene	gene with protein product	"""EMAP II"", ""ARS-interacting multifunctional protein 1"""	603605	"""small inducible cytokine subfamily E, member 1 (endothelial monocyte-activating)"""	SCYE1		7929199, 7545917	Standard	NM_004757		Approved	EMAPII, EMAP-2, p43	uc011cfg.2	Q12904	OTTHUMG00000131217	ENST00000442366.1:c.392-1A>G	4.37:g.107252827A>G		True	False		Somatic	0				AIMP1_ENST00000358008.3_Splice_Site|AIMP1_ENST00000442366.1_Splice_Site		NM_001142416.1	NP_001135888.1	WXS	Illumina HiSeq	Phase_I	Q12904	AIMP1_HUMAN			5	504	+			NA					B3KTR2|B4E1S7|Q6FG28|Q96CQ9	Splice_Site	SNP	ENST00000442366.1	37		CCDS3674.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.124201	0.37533	.	.	ENSG00000164022	ENST00000510207;ENST00000442366;ENST00000432345;ENST00000358008;ENST00000394701	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.1091	0.72340	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AIMP1	107472276	1.000000	0.71417	1.000000	0.80357	0.374000	0.29953	5.339000	0.65953	1.979000	0.57680	0.528000	0.53228	.		0.358	AIMP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253961.1	0	NM_004757	Intron	4:107252827
FBN3	84467	broad.mit.edu	37	19	8190867	8190867	+	Silent	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:8190867A>G	ENST00000600128.1	-	22	3054	c.2640T>C	c.(2638-2640)tgT>tgC	p.C880C	FBN3_ENST00000601739.1_Silent_p.C880C|FBN3_ENST00000270509.2_Silent_p.C880C			Q75N90	FBN3_HUMAN	fibrillin 3	880	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCCGTTGGGACAGACTCCCG	0.637																																						ENST00000600128.1		NA																	0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(2638-2640)tgT>tgC		fibrillin 3							64.0	56.0	59.0					19																	8190867		2203	4300	6503	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8190867A>G		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2640T>C	19.37:g.8190867A>G		True	False		Somatic	0				FBN3_ENST00000270509.2_Silent_p.C880C|FBN3_ENST00000601739.1_Silent_p.C880C	p.C880C			WXS	Illumina HiSeq	Phase_I	Q75N90	FBN3_HUMAN			22	3054	-			880			EGF-like 11; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.2640T>C	CCDS12196.1																																																																																				0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	0	NM_032447		19:8190867
DLGAP1	9229	broad.mit.edu	37	18	3879577	3879577	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr18:3879577G>A	ENST00000315677.3	-	4	1087	c.492C>T	c.(490-492)aaC>aaT	p.N164N	DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Silent_p.N164N|DLGAP1_ENST00000515196.2_Silent_p.N164N|DLGAP1_ENST00000584874.1_Silent_p.N164N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	164					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCTTGCCCCCGTTGACGCTGC	0.711																																						ENST00000315677.3		NA																	0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(490-492)aaC>aaT		discs, large (Drosophila) homolog-associated protein 1							55.0	65.0	61.0					18																	3879577		2202	4300	6502	SO:0001819	synonymous_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879577G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.492C>T	18.37:g.3879577G>A		True	False		Somatic	0				DLGAP1_ENST00000515196.2_Silent_p.N164N|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Silent_p.N164N|DLGAP1_ENST00000581527.1_Silent_p.N164N	p.N164N	NM_004746.3	NP_004737.2	WXS	Illumina HiSeq	Phase_I	O14490	DLGP1_HUMAN			4	1087	-		Colorectal(8;0.0257)	164					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	c.492C>T	CCDS11836.1																																																																																				0.711	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4	0			18:3879577
CHPF	79586	broad.mit.edu	37	2	220406647	220406647	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:220406647G>T	ENST00000243776.6	-	2	827	c.579C>A	c.(577-579)gaC>gaA	p.D193E	CHPF_ENST00000373891.2_Missense_Mutation_p.D193E|CHPF_ENST00000535926.1_Missense_Mutation_p.D31E|TMEM198_ENST00000344458.2_5'Flank|TMEM198_ENST00000373883.3_5'Flank	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	193					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGAAGAACCAGTCAAAGTCGT	0.672											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000243776.6		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21						c.(577-579)gaC>gaA		chondroitin polymerizing factor							34.0	30.0	31.0					2																	220406647		2202	4300	6502	SO:0001583	missense	79586					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding	g.chr2:220406647G>T	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.579C>A	2.37:g.220406647G>T	ENSP00000243776:p.Asp193Glu	False	False		Somatic	0	OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2266	CHPF_ENST00000535926.1_Missense_Mutation_p.D31E|CHPF_ENST00000373891.2_Missense_Mutation_p.D193E	p.D193E	NM_024536.5	NP_078812.2	WXS	Illumina HiSeq	Phase_I	Q8IZ52	CHSS2_HUMAN		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	2	827	-		Renal(207;0.0183)	193					B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	ENST00000243776.6	37	c.579C>A	CCDS2443.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294157	0.81025	.	.	ENSG00000123989	ENST00000243776;ENST00000535926;ENST00000373891	T;T	0.19394	2.15;2.44	4.41	1.63	0.23807	.	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	L	0.49571	1.57	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.91635	0.994;0.999	T	0.02603	-1.1135	10	0.23302	T	0.38	-31.7198	9.132	0.36850	0.2372:0.0:0.7628:0.0	.	193;193	F8W6H2;Q8IZ52	.;CHSS2_HUMAN	E	193;31;193	ENSP00000243776:D193E;ENSP00000445571:D31E	ENSP00000243776:D193E	D	-	3	2	CHPF	220114891	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.600000	0.61083	0.242000	0.21303	0.549000	0.68633	GAC		0.672	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	0	NM_024536		2:220406647
FAT1	2195	broad.mit.edu	37	4	187524664	187524664	+	Silent	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:187524664A>G	ENST00000441802.2	-	19	11225	c.11016T>C	c.(11014-11016)ggT>ggC	p.G3672G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3672					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)			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						TCCTCCTCACACCCAGGATGT	0.502										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2		NA																	0				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						c.(11014-11016)ggT>ggC		FAT atypical cadherin 1							59.0	63.0	61.0					4																	187524664		2082	4226	6308	SO:0001819	synonymous_variant	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.chr4:187524664A>G	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.11016T>C	4.37:g.187524664A>G		True	False	HNSCC(5;0.00058)	Somatic	0					p.G3672G	NM_005245.3	NP_005236.2	WXS	Illumina HiSeq	Phase_I	Q14517	FAT1_HUMAN			19	11225	-			3672						Silent	SNP	ENST00000441802.2	37	c.11016T>C	CCDS47177.1																																																																																				0.502	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	0	NM_005245		4:187524664
RELN	5649	broad.mit.edu	37	7	103234836	103234836	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:103234836C>T	ENST00000428762.1	-	26	3802	c.3643G>A	c.(3643-3645)Gat>Aat	p.D1215N	RELN_ENST00000343529.5_Missense_Mutation_p.D1215N|RELN_ENST00000424685.2_Missense_Mutation_p.D1215N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1215					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATGATGTCATCGACTGCCCAC	0.517																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1		NA																	0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(3643-3645)Gat>Aat		reelin							261.0	250.0	254.0					7																	103234836		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103234836C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3643G>A	7.37:g.103234836C>T	ENSP00000392423:p.Asp1215Asn	False	False		Somatic	0				RELN_ENST00000424685.2_Missense_Mutation_p.D1215N|RELN_ENST00000343529.5_Missense_Mutation_p.D1215N	p.D1215N	NM_005045.3	NP_005036.2	WXS	Illumina HiSeq	Phase_I	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	26	3802	-			1215					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.3643G>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144229	0.94603	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.38560	1.13;1.13;1.13	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.67951	0.2948	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.73708	0.952;0.981	T	0.70392	-0.4884	10	0.87932	D	0	.	19.9347	0.97133	0.0:1.0:0.0:0.0	.	1215;1215	P78509-2;P78509	.;RELN_HUMAN	N	1215	ENSP00000392423:D1215N;ENSP00000345694:D1215N;ENSP00000388446:D1215N	ENSP00000345694:D1215N	D	-	1	0	RELN	103022072	1.000000	0.71417	0.960000	0.40013	0.990000	0.78478	7.267000	0.78462	2.707000	0.92482	0.591000	0.81541	GAT		0.517	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	0	NM_005045		7:103234836
PPP2R1A	5518	broad.mit.edu	37	19	52709296	52709296	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:52709296G>C	ENST00000322088.6	+	3	308	c.250G>C	c.(250-252)Gag>Cag	p.E84Q	PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Intron|PPP2R1A_ENST00000473455.2_3'UTR	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	84	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GGGAGGCCCAGAGTACGTGCA	0.607			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6		NA		Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(250-252)Gag>Cag		protein phosphatase 2, regulatory subunit A, alpha							133.0	109.0	117.0					19																	52709296		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52709296G>C		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.250G>C	19.37:g.52709296G>C	ENSP00000324804:p.Glu84Gln	False	False		Somatic	0				PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000473455.2_3'UTR|PPP2R1A_ENST00000444322.2_Intron	p.E84Q	NM_014225.5	NP_055040.2	WXS	Illumina HiSeq	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	3	308	+			84			PP2A subunit B binding.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.250G>C	CCDS12849.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.630|8.630	0.893441|0.893441	0.17613|0.17613	.|.	.|.	ENSG00000105568|ENSG00000105568	ENST00000454220;ENST00000423369;ENST00000322088|ENST00000391791	T;T|.	0.35048|.	1.33;1.33|.	3.23|3.23	2.2|2.2	0.27929|0.27929	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.225700|.	0.30455|.	N|.	0.009598|.	T|T	0.62792|0.62792	0.2457|0.2457	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	B;B|.	0.15719|.	0.014;0.014|.	B;B|.	0.10450|.	0.005;0.005|.	T|T	0.64597|0.64597	-0.6370|-0.6370	10|6	0.48119|0.87932	T|D	0.1|0	-26.2108|-26.2108	8.5769|8.5769	0.33603|0.33603	0.1188:0.0:0.8812:0.0|0.1188:0.0:0.8812:0.0	.|.	84;84|.	A8K7B7;P30153|.	.;2AAA_HUMAN|.	Q|H	124;84;84|62	ENSP00000391905:E124Q;ENSP00000324804:E84Q|.	ENSP00000324804:E84Q|ENSP00000375668:Q62H	E|Q	+|+	1|3	0|2	PPP2R1A|PPP2R1A	57401108|57401108	1.000000|1.000000	0.71417|0.71417	0.672000|0.672000	0.29872|0.29872	0.515000|0.515000	0.34225|0.34225	8.178000|8.178000	0.89690|0.89690	0.948000|0.948000	0.37687|0.37687	-0.339000|-0.339000	0.08088|0.08088	GAG|CAG		0.607	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	0	NM_014225		19:52709296
ABCC11	85320	broad.mit.edu	37	16	48248799	48248799	+	Missense_Mutation	SNP	G	G	A	rs201784880		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:48248799G>A	ENST00000394747.1	-	8	1590	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	ABCC11_ENST00000394748.1_Missense_Mutation_p.A414V|ABCC11_ENST00000356608.2_Missense_Mutation_p.A414V|ABCC11_ENST00000353782.5_Missense_Mutation_p.A414V|ABCC11_ENST00000537808.1_Missense_Mutation_p.A414V	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	414	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	TACCATTGACGCTGTGAGTTT	0.493													G|||	1	0.000199681	0.0	0.0	5008	,	,		17852	0.0		0.001	False		,,,				2504	0.0					ENST00000394747.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83						c.(1240-1242)gCg>gTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 11							124.0	103.0	110.0					16																	48248799		2201	4300	6501	SO:0001583	missense	85320					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48248799G>A	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.1241C>T	16.37:g.48248799G>A	ENSP00000378230:p.Ala414Val	False	False		Somatic	0				ABCC11_ENST00000356608.2_Missense_Mutation_p.A414V|ABCC11_ENST00000537808.1_Missense_Mutation_p.A414V|ABCC11_ENST00000394748.1_Missense_Mutation_p.A414V|ABCC11_ENST00000353782.5_Missense_Mutation_p.A414V	p.A414V	NM_033151.3	NP_149163.2	WXS	Illumina HiSeq	Phase_I	Q96J66	ABCCB_HUMAN			8	1590	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	414			ABC transmembrane type-1 1.		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.1241C>T	CCDS10732.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	12.39	1.924986	0.34002	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01	4.95	2.93	0.34026	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.956055	0.08704	N	0.905962	D	0.88112	0.6349	L	0.42744	1.35	0.09310	N	1	B;B	0.15719	0.003;0.014	B;B	0.16722	0.001;0.016	T	0.76680	-0.2870	10	0.48119	T	0.1	0.4302	7.1914	0.25828	0.2178:0.0:0.7822:0.0	.	414;414	Q96J66-2;Q96J66	.;ABCCB_HUMAN	V	414	ENSP00000311326:A414V;ENSP00000349017:A414V;ENSP00000378231:A414V;ENSP00000378230:A414V;ENSP00000438530:A414V	ENSP00000311326:A414V	A	-	2	0	ABCC11	46806300	0.016000	0.18221	0.000000	0.03702	0.001000	0.01503	2.029000	0.41098	0.454000	0.26884	0.650000	0.86243	GCG		0.493	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	0	NM_032583		16:48248799
ZC3H4	23211	broad.mit.edu	37	19	47585472	47585472	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:47585472G>A	ENST00000253048.5	-	10	1336	c.1299C>T	c.(1297-1299)tgC>tgT	p.C433C	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	433							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CAGCTCTGGCGCAAAATCCAG	0.463																																						ENST00000253048.5		NA																	0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(1297-1299)tgC>tgT		zinc finger CCCH-type containing 4							185.0	171.0	176.0					19																	47585472		1977	4171	6148	SO:0001819	synonymous_variant	23211						nucleic acid binding|zinc ion binding	g.chr19:47585472G>A	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.1299C>T	19.37:g.47585472G>A		False	False		Somatic	0				ZC3H4_ENST00000594019.1_Intron	p.C433C	NM_015168.1	NP_055983.1	WXS	Illumina HiSeq	Phase_I	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	10	1336	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	433					Q9Y420	Silent	SNP	ENST00000253048.5	37	c.1299C>T	CCDS42582.1																																																																																				0.463	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1	0			19:47585472
ITGA4	3676	broad.mit.edu	37	2	182347132	182347132	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:182347132G>C	ENST00000397033.2	+	8	1316	c.886G>C	c.(886-888)Gaa>Caa	p.E296Q		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	296					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TATCTTACATGAAATGAAAGG	0.308																																						ENST00000397033.2		NA																	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(886-888)Gaa>Caa		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						106.0	102.0	104.0					2																	182347132		1829	4091	5920	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182347132G>C		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.886G>C	2.37:g.182347132G>C	ENSP00000380227:p.Glu296Gln	True	False		Somatic	0					p.E296Q	NM_000885.4	NP_000876.3	WXS	Illumina HiSeq	Phase_I	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		8	1316	+			296					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.886G>C	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	14.29	2.490462	0.44249	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.14516	2.5;2.5	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	L	0.37697	1.125	0.52501	D	0.999957	B;D	0.54772	0.22;0.968	B;P	0.51016	0.109;0.656	T	0.02020	-1.1228	10	0.13108	T	0.6	.	20.327	0.98704	0.0:0.0:1.0:0.0	.	296;296	E7EP60;P13612	.;ITA4_HUMAN	Q	296	ENSP00000380227:E296Q;ENSP00000233573:E296Q	ENSP00000233573:E296Q	E	+	1	0	ITGA4	182055377	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.846000	0.69444	2.794000	0.96219	0.650000	0.86243	GAA		0.308	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1	0			2:182347132
OR4B1	119765	broad.mit.edu	37	11	48238701	48238701	+	Missense_Mutation	SNP	G	G	A	rs377574489		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:48238701G>A	ENST00000309562.2	+	1	358	c.340G>A	c.(340-342)Gtg>Atg	p.V114M		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	114						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V114L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTTTTGATTGTGGTGATGGC	0.443																																						ENST00000309562.2		NA																	1	Substitution - Missense(1)	p.V114L(1)	lung(1)	breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(340-342)Gtg>Atg		olfactory receptor, family 4, subfamily B, member 1							163.0	157.0	159.0					11																	48238701		2201	4298	6499	SO:0001583	missense	119765				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48238701G>A	AB065848	CCDS31485.1	11p11.2	2012-08-09			ENSG00000175619	ENSG00000175619		"""GPCR / Class A : Olfactory receptors"""	8290	protein-coding gene	gene with protein product							Standard	NM_001005470		Approved	OST208	uc010rhs.2	Q8NGF8	OTTHUMG00000166576	ENST00000309562.2:c.340G>A	11.37:g.48238701G>A	ENSP00000311605:p.Val114Met	False	False		Somatic	0					p.V114M	NM_001005470.1	NP_001005470.1	WXS	Illumina HiSeq	Phase_I	Q8NGF8	OR4B1_HUMAN			1	358	+			114					Q6IF75|Q96R64	Missense_Mutation	SNP	ENST00000309562.2	37	c.340G>A	CCDS31485.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350283	0.41599	.	.	ENSG00000175619	ENST00000309562	T	0.00502	6.95	5.24	0.588	0.17445	GPCR, rhodopsin-like superfamily (1);	0.647154	0.13543	N	0.380012	T	0.00637	0.0021	L	0.33710	1.025	0.09310	N	1	P	0.42248	0.774	P	0.52909	0.713	T	0.53830	-0.8383	10	0.56958	D	0.05	.	8.0126	0.30361	0.4392:0.0:0.5608:0.0	.	114	Q8NGF8	OR4B1_HUMAN	M	114	ENSP00000311605:V114M	ENSP00000311605:V114M	V	+	1	0	OR4B1	48195277	0.000000	0.05858	0.407000	0.26434	0.736000	0.42039	-0.124000	0.10595	0.199000	0.20427	0.385000	0.25706	GTG		0.443	OR4B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390554.1	0	NM_001005470		11:48238701
ZNF778	197320	broad.mit.edu	37	16	89294771	89294771	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:89294771G>A	ENST00000433976.2	+	6	2323	c.1991G>A	c.(1990-1992)gGa>gAa	p.G664E	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.G622E	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	664					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CATAAACATGGAAGAATTCAC	0.403																																						ENST00000433976.2		NA																	0				endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24						c.(1990-1992)gGa>gAa		zinc finger protein 778							48.0	52.0	50.0					16																	89294771		2174	4291	6465	SO:0001583	missense	197320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89294771G>A	AK056437	CCDS45550.1, CCDS73928.1	16q24.3	2014-09-17			ENSG00000170100	ENSG00000170100		"""Zinc fingers, C2H2-type"", ""-"""	26479	protein-coding gene	gene with protein product							Standard	NM_182531		Approved	FLJ31875	uc021tms.1	Q96MU6		ENST00000433976.2:c.1991G>A	16.37:g.89294771G>A	ENSP00000405289:p.Gly664Glu	False	False		Somatic	0				RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.G622E	p.G664E	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	WXS	Illumina HiSeq	Phase_I	Q96MU6	ZN778_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0269)	6	2323	+			664					Q08AG0	Missense_Mutation	SNP	ENST00000433976.2	37	c.1991G>A	CCDS45550.1	.	.	.	.	.	.	.	.	.	.	G	9.055	0.993026	0.19043	.	.	ENSG00000170100	ENST00000433976;ENST00000306502	T;T	0.07327	3.2;3.2	1.21	-2.43	0.06522	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02494	0.0076	N	0.01424	-0.875	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.10450	0.003;0.005	T	0.40590	-0.9555	9	0.56958	D	0.05	.	2.2348	0.04005	0.3511:0.0:0.2421:0.4068	.	622;664	Q96MU6-2;Q96MU6	.;ZN778_HUMAN	E	664;622	ENSP00000405289:G664E;ENSP00000305203:G622E	ENSP00000305203:G622E	G	+	2	0	ZNF778	87822272	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-1.083000	0.03397	-1.203000	0.02652	-0.534000	0.04291	GGA		0.403	ZNF778-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430383.1	0	NM_182531		16:89294771
CRYBA2	1412	broad.mit.edu	37	2	219856841	219856841	+	Missense_Mutation	SNP	G	G	A	rs576572225		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:219856841G>A	ENST00000295728.2	-	2	522	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	CRYBA2_ENST00000392096.2_Missense_Mutation_p.R96W|CRYBA2_ENST00000487181.1_5'Flank	NM_057093.1	NP_476434.1	P53672	CRBA2_HUMAN	crystallin, beta A2	96	Beta/gamma crystallin 'Greek key' 2. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens development in camera-type eye (GO:0002088)		structural constituent of eye lens (GO:0005212)			endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCACTGGCCGGAAGGACAGC	0.622													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16948	0.0		0.0	False		,,,				2504	0.0					ENST00000295728.2		NA																	0				endometrium(1)|lung(3)|prostate(1)	5						c.(286-288)Cgg>Tgg		crystallin, beta A2							41.0	38.0	39.0					2																	219856841		2203	4300	6503	SO:0001583	missense	1412						structural constituent of eye lens	g.chr2:219856841G>A		CCDS2429.1	2q35	2013-02-14			ENSG00000163499	ENSG00000163499			2395	protein-coding gene	gene with protein product		600836				7490092, 12907171	Standard	NM_057093		Approved		uc002vjj.1	P53672	OTTHUMG00000133084	ENST00000295728.2:c.286C>T	2.37:g.219856841G>A	ENSP00000295728:p.Arg96Trp	False	False		Somatic	0				CRYBA2_ENST00000392096.2_Missense_Mutation_p.R96W	p.R96W	NM_057093.1	NP_476434.1	WXS	Illumina HiSeq	Phase_I	P53672	CRBA2_HUMAN		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	522	-		Renal(207;0.0474)	96			Beta/gamma crystallin 'Greek key' 2.		Q4ZFX0|Q9Y562	Missense_Mutation	SNP	ENST00000295728.2	37	c.286C>T	CCDS2429.1	.	.	.	.	.	.	.	.	.	.	G	17.09	3.299333	0.60195	.	.	ENSG00000163499	ENST00000392096;ENST00000295728;ENST00000453769	D;D;D	0.83163	-1.69;-1.69;-1.69	4.65	1.67	0.24075	Beta/gamma crystallin (4);Gamma-crystallin-related (1);	0.109256	0.56097	D	0.000022	D	0.92903	0.7742	M	0.94142	3.5	0.49798	D	0.999823	D	0.89917	1.0	D	0.87578	0.998	D	0.93478	0.6825	10	0.87932	D	0	.	14.747	0.69496	0.0:0.0:0.6235:0.3765	.	96	P53672	CRBA2_HUMAN	W	96	ENSP00000375946:R96W;ENSP00000295728:R96W;ENSP00000395120:R96W	ENSP00000295728:R96W	R	-	1	2	CRYBA2	219565085	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	1.688000	0.37690	-0.008000	0.14320	-0.808000	0.03180	CGG		0.622	CRYBA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336424.1	0	NM_057093		2:219856841
FAM189A2	9413	broad.mit.edu	37	9	71951186	71951186	+	Splice_Site	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr9:71951186G>T	ENST00000257515.8	+	2	432		c.e2+1		FAM189A2_ENST00000455972.1_Splice_Site	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2							integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GATACTCCTGGTATGTACTGA	0.333																																						ENST00000257515.8		NA																	0				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.e2+1		family with sequence similarity 189, member A2							163.0	164.0	164.0					9																	71951186		2203	4299	6502	SO:0001630	splice_region_variant	9413					integral to membrane		g.chr9:71951186G>T	L27479	CCDS6629.1	9q21.11	2009-07-09	2009-07-09	2009-07-09	ENSG00000135063	ENSG00000135063			24820	protein-coding gene	gene with protein product		607710	"""chromosome 9 open reading frame 61"""	C9orf61		7951235	Standard	NM_004816		Approved	X123	uc010mon.1	Q15884	OTTHUMG00000019979	ENST00000257515.8:c.12+1G>T	9.37:g.71951186G>T		False	False		Somatic	0				FAM189A2_ENST00000455972.1_Splice_Site		NM_004816.3	NP_004807.3	WXS	Illumina HiSeq	Phase_I	Q15884	F1892_HUMAN			2	432	+			NA					Q14CN5|Q5T6C8|Q5T6C9|Q6ZTX4|Q96N10	Splice_Site	SNP	ENST00000257515.8	37		CCDS6629.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323082	0.60634	.	.	ENSG00000135063	ENST00000455972;ENST00000257515	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.2361	0.65927	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM189A2	71141006	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.913000	0.63341	2.526000	0.85167	0.655000	0.94253	.		0.333	FAM189A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052576.2	0	NM_004816	Intron	9:71951186
C1RL	51279	broad.mit.edu	37	12	7254607	7254607	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:7254607C>T	ENST00000266542.4	-	3	469	c.377G>A	c.(376-378)aGg>aAg	p.R126K	C1RL_ENST00000545280.1_Missense_Mutation_p.G50R|C1RL_ENST00000545337.1_Missense_Mutation_p.R126K|C1RL_ENST00000544702.1_Missense_Mutation_p.R126K	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	126	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TACAAACTCCCTCTGACCAGG	0.607																																						ENST00000266542.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(376-378)aGg>aAg		complement component 1, r subcomponent-like							102.0	103.0	102.0					12																	7254607		2203	4300	6503	SO:0001583	missense	51279				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity	g.chr12:7254607C>T	AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.377G>A	12.37:g.7254607C>T	ENSP00000266542:p.Arg126Lys	True	False		Somatic	0				C1RL_ENST00000545337.1_Missense_Mutation_p.R126K|C1RL_ENST00000545280.1_Missense_Mutation_p.G50R|C1RL_ENST00000544702.1_Missense_Mutation_p.R126K	p.R126K	NM_016546.2	NP_057630.2	WXS	Illumina HiSeq	Phase_I	Q9NZP8	C1RL_HUMAN			3	469	-			126			CUB.		Q53GX9	Missense_Mutation	SNP	ENST00000266542.4	37	c.377G>A	CCDS8573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.321|3.321	-0.138671|-0.138671	0.06669|0.06669	.|.	.|.	ENSG00000139178|ENSG00000139178	ENST00000545280|ENST00000266542;ENST00000396661;ENST00000544702;ENST00000543933;ENST00000545337	.|T;T;T;T	.|0.16597	.|2.33;2.33;2.33;2.33	3.76|3.76	0.896|0.896	0.19253|0.19253	.|CUB (5);	.|0.544302	.|0.17177	.|N	.|0.184060	T|T	0.05547|0.05547	0.0146|0.0146	N|N	0.05574|0.05574	-0.02|-0.02	0.28959|0.28959	N|N	0.889922|0.889922	.|B;B;B	.|0.23990	.|0.095;0.004;0.001	.|B;B;B	.|0.20184	.|0.028;0.007;0.003	T|T	0.37753|0.37753	-0.9692|-0.9692	5|10	.|0.07030	.|T	.|0.85	.|.	3.4791|3.4791	0.07595|0.07595	0.1981:0.5841:0.0:0.2179|0.1981:0.5841:0.0:0.2179	.|.	.|126;126;126	.|F5GWF3;F5H7C8;Q9NZP8	.|.;.;C1RL_HUMAN	R|K	50|126	.|ENSP00000266542:R126K;ENSP00000441885:R126K;ENSP00000437398:R126K;ENSP00000442611:R126K	.|ENSP00000266542:R126K	G|R	-|-	1|2	0|0	C1RL|C1RL	7145883|7145883	0.033000|0.033000	0.19621|0.19621	0.979000|0.979000	0.43373|0.43373	0.888000|0.888000	0.51559|0.51559	-0.382000|-0.382000	0.07408|0.07408	0.183000|0.183000	0.20059|0.20059	0.462000|0.462000	0.41574|0.41574	GGG|AGG		0.607	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398367.1	0	NM_016546		12:7254607
GPR27	2850	broad.mit.edu	37	3	71804286	71804286	+	Silent	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:71804286C>A	ENST00000304411.2	+	1	1086	c.1086C>A	c.(1084-1086)acC>acA	p.T362T	EIF4E3_ENST00000295612.3_5'Flank|EIF4E3_ENST00000448225.1_5'Flank|EIF4E3_ENST00000421769.2_5'Flank	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	362					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		CCCGGACCACCCAGGCGACCC	0.647																																						ENST00000304411.2		NA																	0				kidney(1)|lung(2)|ovary(1)|prostate(1)	5						c.(1084-1086)acC>acA		G protein-coupled receptor 27							11.0	11.0	11.0					3																	71804286		2085	4131	6216	SO:0001819	synonymous_variant	2850					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:71804286C>A	AB040799	CCDS2915.1	3p21-p14	2012-08-21			ENSG00000170837	ENSG00000170837		"""GPCR / Class A : Orphans"""	4482	protein-coding gene	gene with protein product		605187				10833454	Standard	NM_018971		Approved	SREB1	uc011bge.2	Q9NS67	OTTHUMG00000158810	ENST00000304411.2:c.1086C>A	3.37:g.71804286C>A		True	False		Somatic	0					p.T362T	NM_018971.1	NP_061844.1	WXS	Illumina HiSeq	Phase_I	Q9NS67	GPR27_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)	1	1086	+		Prostate(10;0.00899)	362						Silent	SNP	ENST00000304411.2	37	c.1086C>A	CCDS2915.1																																																																																				0.647	GPR27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352303.1	0	NM_018971		3:71804286
FGF6	2251	broad.mit.edu	37	12	4554454	4554454	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:4554454C>T	ENST00000228837.2	-	1	326	c.283G>A	c.(283-285)Ggc>Agc	p.G95S		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	95					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			AGGTGAAAGCCGATGCCCACG	0.652																																						ENST00000228837.2		NA																	0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(283-285)Ggc>Agc		fibroblast growth factor 6							67.0	58.0	61.0					12																	4554454		2203	4300	6503	SO:0001583	missense	2251				angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity	g.chr12:4554454C>T	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.283G>A	12.37:g.4554454C>T	ENSP00000228837:p.Gly95Ser	False	False		Somatic	0					p.G95S	NM_020996.1	NP_066276.2	WXS	Illumina HiSeq	Phase_I	P10767	FGF6_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)		1	326	-			95					Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	37	c.283G>A	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	C	34	5.310723	0.95629	.	.	ENSG00000111241	ENST00000228837	D	0.82526	-1.62	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.92166	0.7516	M	0.85462	2.755	0.80722	D	1	D	0.76494	0.999	D	0.74348	0.983	D	0.93036	0.6453	10	0.87932	D	0	.	19.3285	0.94273	0.0:1.0:0.0:0.0	.	95	P10767	FGF6_HUMAN	S	95	ENSP00000228837:G95S	ENSP00000228837:G95S	G	-	1	0	FGF6	4424715	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.636000	0.89361	0.655000	0.94253	GGC		0.652	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	0	NM_020996		12:4554454
ELK1	2002	broad.mit.edu	37	X	47498346	47498346	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:47498346G>A	ENST00000247161.3	-	3	701	c.602C>T	c.(601-603)cCa>cTa	p.P201L	ELK1_ENST00000376983.3_Missense_Mutation_p.P201L|ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Missense_Mutation_p.P147L	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	201					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CAAGGGGCTTGGACTGGTGCT	0.632																																						ENST00000247161.3		NA																	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						c.(601-603)cCa>cTa		ELK1, member of ETS oncogene family							10.0	9.0	9.0					X																	47498346		2197	4263	6460	SO:0001583	missense	2002				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:47498346G>A	M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.602C>T	X.37:g.47498346G>A	ENSP00000247161:p.Pro201Leu	False	False		Somatic	0				ELK1_ENST00000376983.3_Missense_Mutation_p.P201L|ELK1_ENST00000343894.4_Intron|ELK1_ENST00000592066.1_Missense_Mutation_p.P147L	p.P201L	NM_005229.4	NP_005220.2	WXS	Illumina HiSeq	Phase_I	P19419	ELK1_HUMAN			3	701	-			201					B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Missense_Mutation	SNP	ENST00000247161.3	37	c.602C>T	CCDS14283.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734656	0.69189	.	.	ENSG00000126767	ENST00000247161;ENST00000376983	T;T	0.44482	0.92;0.92	3.73	3.73	0.42828	.	0.322177	0.29355	N	0.012395	T	0.47395	0.1443	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.44651	-0.9314	10	0.52906	T	0.07	.	10.0463	0.42188	0.0:0.0:1.0:0.0	.	201	P19419	ELK1_HUMAN	L	201	ENSP00000247161:P201L;ENSP00000366182:P201L	ENSP00000247161:P201L	P	-	2	0	ELK1	47383290	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.925000	0.56484	2.122000	0.65172	0.529000	0.55759	CCA		0.632	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	0	NM_005229		X:47498346
MBTD1	54799	broad.mit.edu	37	17	49272667	49272667	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:49272667C>T	ENST00000586178.1	-	13	1623	c.1280G>A	c.(1279-1281)gGa>gAa	p.G427E	MBTD1_ENST00000415868.1_Missense_Mutation_p.G427E|MBTD1_ENST00000376381.2_Intron	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	427					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			CCAGTCAGATCCGTCTGCTGC	0.428																																						ENST00000586178.1		NA																	0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12						c.(1279-1281)gGa>gAa		mbt domain containing 1							117.0	100.0	106.0					17																	49272667		2203	4300	6503	SO:0001583	missense	0				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr17:49272667C>T	AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1280G>A	17.37:g.49272667C>T	ENSP00000468304:p.Gly427Glu	False	False		Somatic	0				MBTD1_ENST00000415868.1_Missense_Mutation_p.G427E|MBTD1_ENST00000376381.2_Intron	p.G427E	NM_017643.2	NP_060113.2	WXS	Illumina HiSeq	Phase_I	Q05BQ5	MBTD1_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.54e-08)		13	1623	-			427					Q6ZVU7|Q9NXU1	Missense_Mutation	SNP	ENST00000586178.1	37	c.1280G>A	CCDS11581.2	.	.	.	.	.	.	.	.	.	.	C	34	5.328880	0.95733	.	.	ENSG00000011258	ENST00000405860;ENST00000415868	T	0.40476	1.03	5.36	5.36	0.76844	.	0.105548	0.64402	D	0.000004	T	0.60818	0.2298	L	0.48218	1.51	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.999	T	0.62267	-0.6890	10	0.87932	D	0	.	19.4315	0.94772	0.0:1.0:0.0:0.0	.	427;263	Q05BQ5;Q05BQ5-3	MBTD1_HUMAN;.	E	427	ENSP00000403946:G427E	ENSP00000386072:G427E	G	-	2	0	MBTD1	46627666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.033000	0.70925	2.665000	0.90641	0.643000	0.83706	GGA		0.428	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318124.1	0			17:49272667
IBSP	3381	broad.mit.edu	37	4	88727301	88727301	+	Nonsense_Mutation	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:88727301G>T	ENST00000226284.5	+	5	278	c.211G>T	c.(211-213)Gga>Tga	p.G71*		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	71	Asp/Glu-rich (acidic).				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		CGAAGAAAATGGAGATGACAG	0.348																																						ENST00000226284.5		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21						c.(211-213)Gga>Tga		integrin-binding sialoprotein							79.0	82.0	81.0					4																	88727301		2203	4300	6503	SO:0001587	stop_gained	3381				biomineral tissue development|cell adhesion|ossification			g.chr4:88727301G>T		CCDS3624.1	4q21.1	2008-07-28	2008-07-28		ENSG00000029559	ENSG00000029559			5341	protein-coding gene	gene with protein product	"""bone sialoprotein"", ""bone sialoprotein II"""	147563				8406493	Standard	NM_004967		Approved	BSP, SP-II, BSP-II	uc003hqx.4	P21815	OTTHUMG00000130600	ENST00000226284.5:c.211G>T	4.37:g.88727301G>T	ENSP00000226284:p.Gly71*	False	False		Somatic	0					p.G71*	NM_004967.3	NP_004958.2	WXS	Illumina HiSeq	Phase_I	P21815	SIAL_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)	5	278	+		Hepatocellular(203;0.114)	71			Asp/Glu-rich (acidic).			Nonsense_Mutation	SNP	ENST00000226284.5	37	c.211G>T	CCDS3624.1	.	.	.	.	.	.	.	.	.	.	G	36	5.856098	0.97030	.	.	ENSG00000029559	ENST00000226284	.	.	.	5.71	5.71	0.89125	.	0.190255	0.36932	N	0.002329	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	16.9553	0.86257	0.0:0.0:1.0:0.0	.	.	.	.	X	71	.	ENSP00000226284:G71X	G	+	1	0	IBSP	88946325	0.998000	0.40836	0.988000	0.46212	0.981000	0.71138	3.591000	0.53986	2.861000	0.98227	0.650000	0.86243	GGA		0.348	IBSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253050.2	0			4:88727301
UNC80	285175	broad.mit.edu	37	2	210650909	210650909	+	Silent	SNP	T	T	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:210650909T>C	ENST00000439458.1	+	5	800	c.720T>C	c.(718-720)atT>atC	p.I240I	UNC80_ENST00000272845.6_Silent_p.I240I|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	240					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GGAACATCATTACAGGTTTGT	0.483																																						ENST00000439458.1		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						c.(718-720)atT>atC		unc-80 homolog (C. elegans)							105.0	98.0	100.0					2																	210650909		2203	4300	6503	SO:0001819	synonymous_variant	285175					integral to membrane		g.chr2:210650909T>C	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.720T>C	2.37:g.210650909T>C		False	False		Somatic	0				UNC80_ENST00000272845.5_Silent_p.I240I|UNC80_ENST00000478701.1_3'UTR	p.I240I	NM_032504.1	NP_115893.1	WXS	Illumina HiSeq	Phase_I	Q8N2C7	UNC80_HUMAN			5	800	+			240					B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Silent	SNP	ENST00000439458.1	37	c.720T>C	CCDS46504.1																																																																																				0.483	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_182587		2:210650909
NOS1	4842	broad.mit.edu	37	12	117693813	117693813	+	Missense_Mutation	SNP	C	C	T	rs188094607	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:117693813C>T	ENST00000338101.4	-	16	2565	c.2561G>A	c.(2560-2562)cGt>cAt	p.R854H	NOS1_ENST00000344089.3_Intron|NOS1_ENST00000317775.6_Intron			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		AGGCCCTTTACGGGGAAAGAA	0.602													C|||	4	0.000798722	0.0008	0.0014	5008	,	,		18820	0.0		0.001	False		,,,				2504	0.001				Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000338101.4		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(2560-2562)cGt>cAt		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)	C	,,,HIS/ARG	1,1751		0,1,875	155.0	140.0	145.0		,,,2561	5.9	1.0	12		145	2,3980		0,2,1989	yes	intron,intron,intron,missense	NOS1	NM_000620.4,NM_001204213.1,NM_001204214.1,NM_001204218.1	,,,29	0,3,2864	TT,TC,CC		0.0502,0.0571,0.0523	,,,	,,,854/1469	117693813	3,5731	876	1991	2867	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117693813C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.2561G>A	12.37:g.117693813C>T	ENSP00000337459:p.Arg854His	True	False		Somatic	0				NOS1_ENST00000344089.3_Intron|NOS1_ENST00000317775.6_Intron	p.R854H			WXS	Illumina HiSeq	Phase_I	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	16	2565	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		844			Flavodoxin-like.			Missense_Mutation	SNP	ENST00000338101.4	37	c.2561G>A	CCDS55890.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	24.6	4.549961	0.86127	5.71E-4	5.02E-4	ENSG00000089250	ENST00000338101;ENST00000544320	T	0.01388	4.95	5.93	5.93	0.95920	.	.	.	.	.	T	0.02455	0.0075	N	0.24115	0.695	0.80722	D	1	.	.	.	.	.	.	T	0.73132	-0.4079	7	0.29301	T	0.29	-6.7644	15.854	0.78960	0.0:1.0:0.0:0.0	.	.	.	.	H	854;20	ENSP00000337459:R854H	ENSP00000337459:R854H	R	-	2	0	NOS1	116178196	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.549000	0.53681	2.826000	0.97356	0.655000	0.94253	CGT		0.602	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1	0			12:117693813
ZNF157	7712	broad.mit.edu	37	X	47272834	47272834	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:47272834A>T	ENST00000377073.3	+	4	1448	c.1362A>T	c.(1360-1362)aaA>aaT	p.K454N		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	454					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TCTATGTGAAAGTACGCCTCA	0.438																																						ENST00000377073.3		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						c.(1360-1362)aaA>aaT		zinc finger protein 157							81.0	70.0	73.0					X																	47272834		2203	4300	6503	SO:0001583	missense	7712				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:47272834A>T	U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1362A>T	X.37:g.47272834A>T	ENSP00000366273:p.Lys454Asn	True	False		Somatic	0					p.K454N	NM_003446.3	NP_003437.2	WXS	Illumina HiSeq	Phase_I	P51786	ZN157_HUMAN			4	1448	+			454					Q96LE9	Missense_Mutation	SNP	ENST00000377073.3	37	c.1362A>T	CCDS14278.1	.	.	.	.	.	.	.	.	.	.	A	7.389	0.630476	0.14322	.	.	ENSG00000147117	ENST00000377073	T	0.13778	2.56	3.37	2.2	0.27929	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07818	0.0196	L	0.28054	0.825	0.09310	N	1	B	0.30482	0.281	B	0.24848	0.056	T	0.35895	-0.9770	9	0.26408	T	0.33	.	4.5131	0.11921	0.7149:0.0:0.2851:0.0	.	454	P51786	ZN157_HUMAN	N	454	ENSP00000366273:K454N	ENSP00000366273:K454N	K	+	3	2	ZNF157	47157778	0.000000	0.05858	0.678000	0.29963	0.998000	0.95712	-0.418000	0.07080	0.514000	0.28300	0.486000	0.48141	AAA		0.438	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056415.1	0	NM_003446		X:47272834
EML1	2009	broad.mit.edu	37	14	100374050	100374050	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:100374050G>C	ENST00000262233.6	+	10	1223	c.1084G>C	c.(1084-1086)Gaa>Caa	p.E362Q	EML1_ENST00000334192.4_Missense_Mutation_p.E381Q|EML1_ENST00000327921.9_Missense_Mutation_p.E350Q	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	362	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GCAGAAAGAAGAAAAACTAGC	0.468																																						ENST00000262233.6		NA																	0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1084-1086)Gaa>Caa		echinoderm microtubule associated protein like 1							100.0	102.0	102.0					14																	100374050		2203	4300	6503	SO:0001583	missense	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100374050G>C	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.1084G>C	14.37:g.100374050G>C	ENSP00000262233:p.Glu362Gln	True	False		Somatic	0				EML1_ENST00000334192.4_Missense_Mutation_p.E381Q|EML1_ENST00000327921.9_Missense_Mutation_p.E350Q	p.E362Q	NM_004434.2	NP_004425.2	WXS	Illumina HiSeq	Phase_I	O00423	EMAL1_HUMAN			10	1223	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	362					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	37	c.1084G>C	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911712	0.52439	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138	T;T;T;T	0.46451	5.01;0.87;0.87;0.87	4.99	4.09	0.47781	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.049952	0.85682	D	0.000000	T	0.44201	0.1282	N	0.25890	0.77	0.50813	D	0.999899	D;P;B;D;D	0.59767	0.975;0.911;0.029;0.986;0.957	P;B;B;P;B	0.57846	0.648;0.363;0.011;0.828;0.445	T	0.19712	-1.0297	10	0.21014	T	0.42	-24.9371	14.9443	0.71016	0.0:0.0:0.8557:0.1443	.	350;350;362;381;381	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	Q	349;350;362;381;381	ENSP00000451346:E349Q;ENSP00000327384:E350Q;ENSP00000262233:E362Q;ENSP00000334314:E381Q	ENSP00000262233:E362Q	E	+	1	0	EML1	99443803	1.000000	0.71417	0.042000	0.18584	0.901000	0.52897	7.832000	0.86757	1.206000	0.43276	0.655000	0.94253	GAA		0.468	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	0	NM_001008707		14:100374050
ATAD2	29028	broad.mit.edu	37	8	124348628	124348628	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:124348628C>G	ENST00000287394.5	-	22	3303	c.3196G>C	c.(3196-3198)Gat>Cat	p.D1066H	ATAD2_ENST00000521903.1_Missense_Mutation_p.D384H	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1066	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D1066Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GGATCTCTATCTGGATTGTAT	0.373																																						ENST00000287394.5		NA																	1	Substitution - Missense(1)	p.D1066Y(1)	breast(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(3196-3198)Gat>Cat		ATPase family, AAA domain containing 2							73.0	71.0	72.0					8																	124348628		2203	4299	6502	SO:0001583	missense	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124348628C>G	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.3196G>C	8.37:g.124348628C>G	ENSP00000287394:p.Asp1066His	False	False		Somatic	0				ATAD2_ENST00000521903.1_Missense_Mutation_p.D384H	p.D1066H	NM_014109.3	NP_054828.2	WXS	Illumina HiSeq	Phase_I	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		22	3303	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		1066			Bromo.		Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	c.3196G>C	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066390	0.76187	.	.	ENSG00000156802	ENST00000287394;ENST00000521903	T;T	0.29917	1.55;1.55	5.89	5.89	0.94794	Bromodomain (5);	0.507344	0.17654	U	0.166599	T	0.55641	0.1933	M	0.78223	2.4	0.58432	D	0.999999	D	0.55385	0.971	P	0.56398	0.797	T	0.56992	-0.7887	10	0.72032	D	0.01	-27.5249	20.2576	0.98430	0.0:1.0:0.0:0.0	.	1066	Q6PL18	ATAD2_HUMAN	H	1066;384	ENSP00000287394:D1066H;ENSP00000429213:D384H	ENSP00000287394:D1066H	D	-	1	0	ATAD2	124417809	1.000000	0.71417	1.000000	0.80357	0.475000	0.33008	7.541000	0.82084	2.783000	0.95769	0.655000	0.94253	GAT		0.373	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	0	NM_014109		8:124348628
CAMSAP3	57662	broad.mit.edu	37	19	7673099	7673099	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:7673099G>A	ENST00000160298.4	+	5	810	c.709G>A	c.(709-711)Gcg>Acg	p.A237T	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.A264T	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	237	CH.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CAGTGGGGCCGCGCTGGCCGC	0.642																																						ENST00000446248.2		NA																	0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(790-792)Gcg>Acg		calmodulin regulated spectrin-associated protein family, member 3							42.0	52.0	49.0					19																	7673099		2079	4198	6277	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7673099G>A	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.709G>A	19.37:g.7673099G>A	ENSP00000160298:p.Ala237Thr	False	False		Somatic	0				CAMSAP3_ENST00000160298.4_Missense_Mutation_p.A237T	p.A264T	NM_001080429.2	NP_001073898.1	WXS	Illumina HiSeq	Phase_I	Q9P1Y5	CAMP3_HUMAN			7	891	+			237			CH.		Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.790G>A	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	g	24.4	4.522820	0.85600	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.30182	1.54;1.57	4.89	4.89	0.63831	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	M	0.77486	2.375	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.64326	-0.6434	10	0.87932	D	0	-19.3224	16.8335	0.85951	0.0:0.0:1.0:0.0	.	237;264	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	T	264;237	ENSP00000416797:A264T;ENSP00000160298:A237T	ENSP00000160298:A237T	A	+	1	0	KIAA1543	7579099	1.000000	0.71417	0.305000	0.25099	0.568000	0.35870	9.498000	0.97972	2.273000	0.75805	0.543000	0.68304	GCG		0.642	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	0	XM_048362		19:7673099
MATN2	4147	broad.mit.edu	37	8	99019798	99019798	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:99019798C>T	ENST00000520016.1	+	9	1666	c.1542C>T	c.(1540-1542)caC>caT	p.H514H	MATN2_ENST00000254898.5_Silent_p.H514H|MATN2_ENST00000521689.1_Silent_p.H514H|MATN2_ENST00000522025.2_Silent_p.H230H|MATN2_ENST00000524308.1_Silent_p.H473H			O00339	MATN2_HUMAN	matrilin 2	514	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CTGAGGGACACGTGCTCCGCA	0.567																																						ENST00000254898.5		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(1540-1542)caC>caT		matrilin 2							145.0	142.0	143.0					8																	99019798		2140	4250	6390	SO:0001819	synonymous_variant	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99019798C>T	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1542C>T	8.37:g.99019798C>T		False	False		Somatic	0				MATN2_ENST00000520016.1_Silent_p.H514H|MATN2_ENST00000524308.1_Silent_p.H473H|MATN2_ENST00000522025.2_Silent_p.H230H|MATN2_ENST00000521689.1_Silent_p.H514H	p.H514H	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	WXS	Illumina HiSeq	Phase_I	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		10	1773	+	Breast(36;1.43e-06)		514			EGF-like 7.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Silent	SNP	ENST00000520016.1	37	c.1542C>T	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	C	0.079	-1.186741	0.01620	.	.	ENSG00000132561	ENST00000518154	.	.	.	5.65	-7.32	0.01436	.	.	.	.	.	T	0.41073	0.1143	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	T	0.41270	-0.9518	4	.	.	.	-16.2738	16.4012	0.83641	0.0:0.2847:0.0:0.7153	.	.	.	.	C	297	.	.	R	+	1	0	MATN2	99088974	0.000000	0.05858	0.037000	0.18230	0.086000	0.17979	-1.867000	0.01646	-1.505000	0.01807	-1.553000	0.00894	CGT		0.567	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1	0			8:99019798
ALB	213	broad.mit.edu	37	4	74283893	74283893	+	Missense_Mutation	SNP	T	T	C	rs571711778		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:74283893T>C	ENST00000503124.1	+	10	1274	c.1067T>C	c.(1066-1068)gTg>gCg	p.V356A	ALB_ENST00000415165.2_Missense_Mutation_p.V314A|ALB_ENST00000401494.3_Missense_Mutation_p.V391A|ALB_ENST00000295897.4_Missense_Mutation_p.V506A|ALB_ENST00000509063.1_Missense_Mutation_p.V506A|ALB_ENST00000505649.1_3'UTR			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAATCCTTGGTGAACAGGCGA	0.448													T|||	1	0.000199681	0.0	0.0	5008	,	,		19777	0.0		0.0	False		,,,				2504	0.001					ENST00000295897.4		NA																	0				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48						c.(1516-1518)gTg>gCg		albumin	Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)						119.0	111.0	114.0					4																	74283893		2203	4300	6503	SO:0001583	missense	213				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	g.chr4:74283893T>C	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.1067T>C	4.37:g.74283893T>C	ENSP00000421027:p.Val356Ala	False	False		Somatic	0				ALB_ENST00000503124.1_Missense_Mutation_p.V356A|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.V506A|ALB_ENST00000415165.2_Missense_Mutation_p.V314A|ALB_ENST00000401494.3_Missense_Mutation_p.V391A	p.V506A	NM_000477.5	NP_000468.1	WXS	Illumina HiSeq	Phase_I	P02768	ALBU_HUMAN	Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		12	1606	+	Breast(15;0.00102)		506			Albumin 3.		B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000503124.1	37	c.1517T>C		.	.	.	.	.	.	.	.	.	.	T	0.009	-1.808861	0.00606	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44	5.94	2.26	0.28386	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.507607	0.19058	N	0.123858	T	0.34048	0.0884	N	0.12471	0.22	0.28162	N	0.928932	B;B;B;B;B	0.23128	0.08;0.001;0.006;0.001;0.002	B;B;B;B;B	0.31495	0.131;0.034;0.069;0.017;0.034	T	0.33317	-0.9873	10	0.87932	D	0	-9.8227	7.1945	0.25845	0.0:0.3801:0.0:0.6199	.	391;314;356;506;506	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.;.;.;.;ALBU_HUMAN	A	506;314;293;356;506;391;515	ENSP00000295897:V506A;ENSP00000401820:V314A;ENSP00000421027:V356A;ENSP00000422784:V506A;ENSP00000384695:V391A	ENSP00000295897:V506A	V	+	2	0	ALB	74502757	0.993000	0.37304	0.762000	0.31397	0.006000	0.05464	1.347000	0.33975	0.503000	0.28060	-0.297000	0.09499	GTG		0.448	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	0	NM_000477		4:74283893
CDH23	64072	broad.mit.edu	37	10	73377087	73377087	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:73377087C>T	ENST00000224721.6	+	10	1091	c.1086C>T	c.(1084-1086)atC>atT	p.I362I	CDH23_ENST00000299366.7_Silent_p.I402I|CDH23_ENST00000461841.3_Silent_p.I402I|CDH23_ENST00000398842.3_Silent_p.I357I|CDH23_ENST00000398809.4_Silent_p.I357I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	357	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCGTGGCCATCACTGAGCTGG	0.557																																						ENST00000224721.6		NA																	0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(1084-1086)atC>atT		cadherin-related 23							77.0	81.0	79.0					10																	73377087		2193	4289	6482	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73377087C>T	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.1086C>T	10.37:g.73377087C>T		False	False		Somatic	0				CDH23_ENST00000299366.7_Silent_p.I402I|CDH23_ENST00000461841.3_Silent_p.I402I|CDH23_ENST00000398809.4_Silent_p.I357I|CDH23_ENST00000398842.3_Silent_p.I357I	p.I362I	NM_022124.5	NP_071407.4	WXS	Illumina HiSeq	Phase_I	Q9H251	CAD23_HUMAN			10	1091	+			357			Cadherin 4.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000224721.6	37	c.1086C>T																																																																																					0.557	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051227.4	0	NM_052836		10:73377087
VTI1B	10490	broad.mit.edu	37	14	68118129	68118129	+	Silent	SNP	A	A	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:68118129A>C	ENST00000554659.1	-	6	1013	c.672T>G	c.(670-672)gtT>gtG	p.V224V	ARG2_ENST00000261783.3_3'UTR	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	224					cell proliferation (GO:0008283)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)|synaptic vesicle (GO:0008021)	SNARE binding (GO:0000149)			endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		ATTTGTAGTAAACCAGGCCTC	0.453																																						ENST00000554659.1		NA																	0				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5						c.(670-672)gtT>gtG		vesicle transport through interaction with t-SNAREs 1B							70.0	71.0	71.0					14																	68118129		2203	4300	6503	SO:0001819	synonymous_variant	10490				cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane		g.chr14:68118129A>C	AF060902	CCDS9786.1	14q23.3	2012-12-10	2012-12-10		ENSG00000100568	ENSG00000100568			17793	protein-coding gene	gene with protein product		603207	"""vesicle transport through interaction with t-SNAREs homolog 1B (yeast)"""			9636656, 9446565	Standard	NM_006370		Approved	VTI2	uc001xjt.3	Q9UEU0	OTTHUMG00000171251	ENST00000554659.1:c.672T>G	14.37:g.68118129A>C		True	False		Somatic	0				ARG2_ENST00000261783.3_3'UTR	p.V224V	NM_006370.2	NP_006361.1	WXS	Illumina HiSeq	Phase_I	Q9UEU0	VTI1B_HUMAN		all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)	6	1013	-			224					O43547|Q96J28	Silent	SNP	ENST00000554659.1	37	c.672T>G	CCDS9786.1	.	.	.	.	.	.	.	.	.	.	A	6.515	0.463167	0.12402	.	.	ENSG00000100568	ENST00000554636	.	.	.	6.17	-2.23	0.06930	.	.	.	.	.	T	0.50343	0.1610	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43376	-0.9395	4	.	.	.	.	6.4943	0.22133	0.3206:0.2838:0.3956:0.0	.	.	.	.	C	102	.	.	F	-	2	0	VTI1B	67187882	0.962000	0.33011	0.993000	0.49108	0.998000	0.95712	0.084000	0.14891	-0.288000	0.09051	0.533000	0.62120	TTT		0.453	VTI1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412558.2	0			14:68118129
THRAP3	9967	broad.mit.edu	37	1	36752631	36752631	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:36752631C>T	ENST00000354618.5	+	4	1024	c.800C>T	c.(799-801)cCt>cTt	p.P267L	THRAP3_ENST00000469141.2_Missense_Mutation_p.P267L	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	267	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCACCCCGTCCTAGCCCCGTG	0.617			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5		NA		Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(799-801)cCt>cTt		thyroid hormone receptor associated protein 3							66.0	67.0	66.0					1																	36752631		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752631C>T	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.800C>T	1.37:g.36752631C>T	ENSP00000346634:p.Pro267Leu	False	False		Somatic	0				THRAP3_ENST00000469141.2_Missense_Mutation_p.P267L	p.P267L	NM_005119.3	NP_005110.2	WXS	Illumina HiSeq	Phase_I	Q9Y2W1	TR150_HUMAN			4	1024	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	267			Ser-rich.		D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.800C>T	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962964	0.74016	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.12879	2.64;2.64	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	T	0.33876	0.0878	L	0.45581	1.43	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.00589	-1.1656	10	0.59425	D	0.04	-12.8835	19.1531	0.93496	0.0:1.0:0.0:0.0	.	267	Q9Y2W1	TR150_HUMAN	L	267	ENSP00000346634:P267L;ENSP00000433825:P267L	ENSP00000346634:P267L	P	+	2	0	THRAP3	36525218	0.987000	0.35691	1.000000	0.80357	0.998000	0.95712	3.482000	0.53186	2.753000	0.94483	0.655000	0.94253	CCT		0.617	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	0	NM_005119		1:36752631
POLE	5426	broad.mit.edu	37	12	133240667	133240667	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:133240667C>G	ENST00000320574.5	-	23	2672	c.2629G>C	c.(2629-2631)Gtc>Ctc	p.V877L	POLE_ENST00000535270.1_Missense_Mutation_p.V850L	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	877					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GTCTTGAAGACAAAATTTTCT	0.517								DNA polymerases (catalytic subunits)																														ENST00000320574.5		NA																	0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(2629-2631)Gtc>Ctc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							202.0	199.0	200.0					12																	133240667		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133240667C>G		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2629G>C	12.37:g.133240667C>G	ENSP00000322570:p.Val877Leu	True	False		Somatic	0				POLE_ENST00000535270.1_Missense_Mutation_p.V850L	p.V877L	NM_006231.2	NP_006222.2	WXS	Illumina HiSeq	Phase_I	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	23	2672	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	877					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.2629G>C	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357675	0.41801	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.13778	4.22;4.22;4.22;2.56	5.57	5.57	0.84162	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	L	0.42245	1.32	0.58432	D	0.999996	P;B	0.36959	0.575;0.261	B;B	0.39876	0.312;0.243	T	0.00912	-1.1517	10	0.49607	T	0.09	.	19.5987	0.95551	0.0:1.0:0.0:0.0	.	850;877	F5H1D6;Q07864	.;DPOE1_HUMAN	L	877;888;850;657;812	ENSP00000322570:V877L;ENSP00000406383:V888L;ENSP00000445753:V850L;ENSP00000442519:V657L	ENSP00000322570:V877L	V	-	1	0	POLE	131750740	1.000000	0.71417	0.997000	0.53966	0.025000	0.11179	4.943000	0.63554	2.640000	0.89533	0.638000	0.83543	GTC		0.517	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	0	NM_006231		12:133240667
SMEK2	57223	broad.mit.edu	37	2	55795477	55795477	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:55795477C>T	ENST00000345102.5	-	13	2089	c.1788G>A	c.(1786-1788)cgG>cgA	p.R596R	SMEK2_ENST00000272313.5_Silent_p.R511R|SNORA12_ENST00000390873.1_RNA|SMEK2_ENST00000407823.3_Silent_p.R564R	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	596					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTCCAATTATCCGCCTCATAA	0.313																																						ENST00000272313.5		NA																	0				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(1531-1533)cgG>cgA		SMEK homolog 2, suppressor of mek1 (Dictyostelium)							55.0	59.0	58.0					2																	55795477		2203	4296	6499	SO:0001819	synonymous_variant	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55795477C>T	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.1788G>A	2.37:g.55795477C>T		False	False		Somatic	0				SMEK2_ENST00000345102.5_Silent_p.R596R|SMEK2_ENST00000407823.3_Silent_p.R564R	p.R511R	NM_020463.2	NP_065196.1	WXS	Illumina HiSeq	Phase_I	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		11	1860	-			574					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Silent	SNP	ENST00000345102.5	37	c.1533G>A	CCDS46289.1																																																																																				0.313	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	0	NM_020463		2:55795477
ZFYVE20	64145	broad.mit.edu	37	3	15116060	15116060	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:15116060C>T	ENST00000253699.3	-	14	2197	c.1584G>A	c.(1582-1584)cgG>cgA	p.R528R	ZFYVE20_ENST00000476527.2_Silent_p.R528R	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	528	Necessary for the interaction with EHD1.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GTTCCAACTCCCGTTCACGCA	0.597																																						ENST00000253699.3		NA																	0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(1582-1584)cgG>cgA		zinc finger, FYVE domain containing 20							105.0	98.0	100.0					3																	15116060		2203	4300	6503	SO:0001819	synonymous_variant	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15116060C>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1584G>A	3.37:g.15116060C>T		True	False		Somatic	0				ZFYVE20_ENST00000476527.2_Silent_p.R528R	p.R528R	NM_022340.2	NP_071735.2	WXS	Illumina HiSeq	Phase_I	Q9H1K0	RBNS5_HUMAN			14	2197	-			528			Necessary for the interaction with EHD1.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Silent	SNP	ENST00000253699.3	37	c.1584G>A	CCDS2623.1																																																																																				0.597	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	0	NM_022340		3:15116060
GPR50	9248	broad.mit.edu	37	X	150345311	150345311	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:150345311G>A	ENST00000218316.3	+	1	187	c.118G>A	c.(118-120)Gtt>Att	p.V40I	GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	40					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TATCACCATCGTTGTAGACCT	0.512																																						ENST00000218316.3		NA																	0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(118-120)Gtt>Att		G protein-coupled receptor 50							146.0	141.0	142.0					X																	150345311		1909	4106	6015	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150345311G>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.118G>A	X.37:g.150345311G>A	ENSP00000218316:p.Val40Ile	False	False		Somatic	0				GPR50-AS1_ENST00000454196.1_RNA	p.V40I	NM_004224.3	NP_004215.2	WXS	Illumina HiSeq	Phase_I	Q13585	MTR1L_HUMAN			1	187	+	Acute lymphoblastic leukemia(192;6.56e-05)		40					Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.118G>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	G	6.356	0.433766	0.12045	.	.	ENSG00000102195	ENST00000218316	T	0.37411	1.2	4.2	3.34	0.38264	.	0.154979	0.42821	N	0.000654	T	0.16257	0.0391	N	0.08118	0	0.30817	N	0.738223	B	0.24092	0.097	B	0.15870	0.014	T	0.09840	-1.0656	10	0.31617	T	0.26	-12.3268	7.0452	0.25042	0.1279:0.0:0.8721:0.0	.	40	Q13585	MTR1L_HUMAN	I	40	ENSP00000218316:V40I	ENSP00000218316:V40I	V	+	1	0	GPR50	150095969	0.914000	0.31030	0.782000	0.31804	0.022000	0.10575	1.373000	0.34272	0.789000	0.33779	0.292000	0.19580	GTT		0.512	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	0	NM_004224		X:150345311
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398285
CDC27	996	broad.mit.edu	37	17	45206848	45206848	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:45206848T>A	ENST00000066544.3	-	16	2164	c.2071A>T	c.(2071-2073)Acc>Tcc	p.T691S	CDC27_ENST00000446365.2_Missense_Mutation_p.T630S|CDC27_ENST00000527547.1_Missense_Mutation_p.T690S|CDC27_ENST00000531206.1_Missense_Mutation_p.T697S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	691					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTGTTTAGGGTATCCAAAGCC	0.338																																						ENST00000066544.3		NA																	0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(2071-2073)Acc>Tcc		cell division cycle 27							102.0	103.0	102.0					17																	45206848		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45206848T>A	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.2071A>T	17.37:g.45206848T>A	ENSP00000066544:p.Thr691Ser	True	False		Somatic	0				CDC27_ENST00000527547.1_Missense_Mutation_p.T690S|CDC27_ENST00000531206.1_Missense_Mutation_p.T697S|CDC27_ENST00000446365.2_Missense_Mutation_p.T630S	p.T691S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	WXS	Illumina HiSeq	Phase_I	P30260	CDC27_HUMAN			16	2164	-			691					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.2071A>T	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	28.0	4.878527	0.91740	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.61980	0.06;0.06;0.06;0.06	5.68	5.68	0.88126	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.78755	0.4333	M	0.79258	2.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.988;0.988;0.993	T	0.80074	-0.1534	10	0.49607	T	0.09	-10.4546	13.8853	0.63704	0.0:0.0:0.0:1.0	.	630;690;697;691	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	S	691;697;630;690	ENSP00000066544:T691S;ENSP00000434614:T697S;ENSP00000392802:T630S;ENSP00000437339:T690S	ENSP00000066544:T691S	T	-	1	0	CDC27	42561847	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.032000	0.88838	2.156000	0.67533	0.460000	0.39030	ACC		0.338	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2	0			17:45206848
BRWD1	54014	broad.mit.edu	37	21	40571514	40571514	+	Missense_Mutation	SNP	T	T	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr21:40571514T>A	ENST00000333229.2	-	40	5155	c.4828A>T	c.(4828-4830)Aat>Tat	p.N1610Y	BRWD1_ENST00000342449.3_Missense_Mutation_p.N1610Y|BRWD1_ENST00000380800.3_Missense_Mutation_p.N1610Y	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1610					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCCAATGAATTGTTATCAGAA	0.373											OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																									Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3		NA																	0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(4828-4830)Aat>Tat		bromodomain and WD repeat domain containing 1							62.0	67.0	66.0					21																	40571514		2203	4299	6502	SO:0001583	missense	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40571514T>A	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4828A>T	21.37:g.40571514T>A	ENSP00000330753:p.Asn1610Tyr	False	False		Somatic	0	OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	894	BRWD1_ENST00000380800.3_Missense_Mutation_p.N1610Y|BRWD1_ENST00000333229.2_Missense_Mutation_p.N1610Y	p.N1610Y	NM_033656.3	NP_387505.1	WXS	Illumina HiSeq	Phase_I	Q9NSI6	BRWD1_HUMAN			40	4906	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1610					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	c.4828A>T	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.510435	0.64522	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.56103	0.48;0.52;0.6	5.19	4.01	0.46588	.	0.410373	0.22711	N	0.056578	T	0.59088	0.2168	M	0.64997	1.995	0.80722	D	1	P;P	0.49185	0.92;0.561	P;B	0.51135	0.66;0.128	T	0.60840	-0.7183	10	0.72032	D	0.01	-9.7638	11.0953	0.48141	0.0:0.0:0.1544:0.8456	.	1610;1610	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	Y	1610	ENSP00000330753:N1610Y;ENSP00000344333:N1610Y;ENSP00000370178:N1610Y	ENSP00000330753:N1610Y	N	-	1	0	BRWD1	39493384	1.000000	0.71417	0.928000	0.36995	0.993000	0.82548	1.889000	0.39718	0.783000	0.33636	0.460000	0.39030	AAT		0.373	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	0	NM_033656		21:40571514
THBS1	7057	broad.mit.edu	37	15	39876541	39876541	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr15:39876541C>T	ENST00000260356.5	+	6	1109	c.944C>T	c.(943-945)cCt>cTt	p.P315L		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	315					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		CTGAGGCGGCCTCCCCTATGC	0.483																																						ENST00000260356.5		NA																	0				breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53						c.(943-945)cCt>cTt		thrombospondin 1	Becaplermin(DB00102)						100.0	98.0	98.0					15																	39876541		2200	4297	6497	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39876541C>T		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.944C>T	15.37:g.39876541C>T	ENSP00000260356:p.Pro315Leu	False	False		Somatic	0					p.P315L	NM_003246.2	NP_003237.2	WXS	Illumina HiSeq	Phase_I	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	6	1109	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	315					A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.944C>T	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268480	0.59540	.	.	ENSG00000137801	ENST00000260356	T	0.77620	-1.11	5.88	5.88	0.94601	.	0.224139	0.22966	N	0.053490	T	0.78091	0.4229	M	0.61703	1.905	0.47214	D	0.999351	B	0.15141	0.012	B	0.14023	0.01	T	0.72883	-0.4157	10	0.59425	D	0.04	-2.5851	19.2015	0.93713	0.0:1.0:0.0:0.0	.	315	P07996	TSP1_HUMAN	L	315	ENSP00000260356:P315L	ENSP00000260356:P315L	P	+	2	0	THBS1	37663833	0.032000	0.19561	0.123000	0.21794	0.901000	0.52897	2.941000	0.49011	2.786000	0.95864	0.655000	0.94253	CCT		0.483	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	0	NM_003246		15:39876541
TICRR	90381	broad.mit.edu	37	15	90150053	90150053	+	Nonsense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr15:90150053C>T	ENST00000268138.7	+	14	2824	c.2719C>T	c.(2719-2721)Caa>Taa	p.Q907*	KIF7_ENST00000558928.1_5'Flank|TICRR_ENST00000560985.1_Nonsense_Mutation_p.Q906*			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	907					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										AGATACAGTGCAAGGTATACT	0.368																																						ENST00000268138.7		NA																	0					NA						c.(2719-2721)Caa>Taa		TOPBP1-interacting checkpoint and replication regulator							99.0	94.0	95.0					15																	90150053		1845	4087	5932	SO:0001587	stop_gained	90381							g.chr15:90150053C>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.2719C>T	15.37:g.90150053C>T	ENSP00000268138:p.Gln907*	False	False		Somatic	0				TICRR_ENST00000560985.1_Nonsense_Mutation_p.Q906*	p.Q907*			WXS	Illumina HiSeq	Phase_I					14	2824	+			NA					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Nonsense_Mutation	SNP	ENST00000268138.7	37	c.2719C>T	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	40	8.394003	0.98791	.	.	ENSG00000140534	ENST00000268138	.	.	.	6.17	6.17	0.99709	.	0.317816	0.32640	N	0.005829	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-9.5716	18.0354	0.89301	0.0:1.0:0.0:0.0	.	.	.	.	X	907	.	ENSP00000268138:Q907X	Q	+	1	0	C15orf42	87951057	0.995000	0.38212	0.974000	0.42286	0.902000	0.53008	4.184000	0.58323	2.941000	0.99782	0.655000	0.94253	CAA		0.368	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	0	NM_152259		15:90150053
SIDT1	54847	broad.mit.edu	37	3	113320452	113320452	+	Missense_Mutation	SNP	G	G	C	rs138220562		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:113320452G>C	ENST00000264852.4	+	11	1789	c.1063G>C	c.(1063-1065)Gca>Cca	p.A355P	SIDT1_ENST00000393830.3_Missense_Mutation_p.A355P	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	355					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						AAATATGGTGGCATCTCATCC	0.413																																						ENST00000264852.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1063-1065)Gca>Cca		SID1 transmembrane family, member 1							129.0	114.0	119.0					3																	113320452		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113320452G>C	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1063G>C	3.37:g.113320452G>C	ENSP00000264852:p.Ala355Pro	False	False		Somatic	0				SIDT1_ENST00000393830.3_Missense_Mutation_p.A355P	p.A355P	NM_017699.2	NP_060169.2	WXS	Illumina HiSeq	Phase_I	Q9NXL6	SIDT1_HUMAN			11	1789	+			355					Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.1063G>C	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	G	4.852	0.158347	0.09236	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.23348	1.91;1.91	6.17	4.37	0.52481	.	0.722817	0.12743	N	0.442876	T	0.21468	0.0517	L	0.40543	1.245	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.11591	-1.0581	10	0.33940	T	0.23	-4.7062	9.7877	0.40686	0.0667:0.0:0.6671:0.2661	.	355;355	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	P	355	ENSP00000264852:A355P;ENSP00000377416:A355P	ENSP00000264852:A355P	A	+	1	0	SIDT1	114803142	0.002000	0.14202	0.038000	0.18304	0.115000	0.19883	1.111000	0.31159	1.607000	0.50170	-0.181000	0.13052	GCA		0.413	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	0	NM_017699		3:113320452
DHX36	170506	broad.mit.edu	37	3	154032888	154032888	+	Missense_Mutation	SNP	A	A	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:154032888A>C	ENST00000496811.1	-	3	630	c.550T>G	c.(550-552)Tta>Gta	p.L184V	DHX36_ENST00000308361.6_Missense_Mutation_p.L184V|DHX36_ENST00000329463.5_Missense_Mutation_p.L184V|DHX36_ENST00000544526.1_Missense_Mutation_p.L184V	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	184					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCTTCCAATAATTTTTGGTCT	0.289																																						ENST00000496811.1		NA																	0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(550-552)Tta>Gta		DEAH (Asp-Glu-Ala-His) box polypeptide 36							48.0	51.0	50.0					3																	154032888		2199	4298	6497	SO:0001583	missense	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154032888A>C	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.550T>G	3.37:g.154032888A>C	ENSP00000417078:p.Leu184Val	True	False		Somatic	0				DHX36_ENST00000308361.6_Missense_Mutation_p.L184V|DHX36_ENST00000544526.1_Missense_Mutation_p.L184V|DHX36_ENST00000329463.5_Missense_Mutation_p.L184V	p.L184V	NM_020865.2	NP_065916.2	WXS	Illumina HiSeq	Phase_I	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	630	-			184					B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	c.550T>G	CCDS3171.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854682	0.32791	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	T;T;T;T;T	0.10192	2.9;2.9;2.9;2.9;2.9	5.64	2.36	0.29203	.	0.000000	0.64402	D	0.000001	T	0.08537	0.0212	L	0.36672	1.1	0.46774	D	0.999197	P;P;B	0.41313	0.573;0.745;0.251	B;B;B	0.37550	0.18;0.253;0.095	T	0.18116	-1.0347	10	0.51188	T	0.08	.	9.201	0.37258	0.2292:0.0:0.7708:0.0	.	184;184;184	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	V	184;184;184;184;98	ENSP00000417078:L184V;ENSP00000309296:L184V;ENSP00000444247:L184V;ENSP00000330113:L184V;ENSP00000419862:L98V	ENSP00000309296:L184V	L	-	1	2	DHX36	155515582	0.980000	0.34600	0.395000	0.26283	0.968000	0.65278	1.368000	0.34216	0.114000	0.18032	0.472000	0.43445	TTA		0.289	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	0	NM_020865		3:154032888
SHROOM4	57477	broad.mit.edu	37	X	50350791	50350791	+	Silent	SNP	T	T	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:50350791T>C	ENST00000289292.7	-	6	3634	c.3351A>G	c.(3349-3351)gcA>gcG	p.A1117A	SHROOM4_ENST00000376020.2_Silent_p.A1117A|SHROOM4_ENST00000460112.3_Silent_p.A1001A			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1117					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					gctgctgGGCTGCACGAAAGA	0.577																																						ENST00000376020.2		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3349-3351)gcA>gcG		shroom family member 4							26.0	24.0	25.0					X																	50350791		2202	4299	6501	SO:0001819	synonymous_variant	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350791T>C	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3351A>G	X.37:g.50350791T>C		False	False		Somatic	0				SHROOM4_ENST00000460112.3_Silent_p.A1001A|SHROOM4_ENST00000289292.7_Silent_p.A1117A	p.A1117A	NM_020717.3	NP_065768.2	WXS	Illumina HiSeq	Phase_I	Q9ULL8	SHRM4_HUMAN			6	3376	-	Ovarian(276;0.236)		1117					A7E2X9|D6RFW0|Q96LA0	Silent	SNP	ENST00000289292.7	37	c.3351A>G	CCDS35277.1																																																																																				0.577	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	0	NM_020717		X:50350791
OBSCN	84033	broad.mit.edu	37	1	228562337	228562337	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:228562337A>G	ENST00000422127.1	+	97	22591	c.22547A>G	c.(22546-22548)aAg>aGg	p.K7516R	OBSCN_ENST00000366707.4_Missense_Mutation_p.K5150R|OBSCN_ENST00000570156.2_Missense_Mutation_p.K8473R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7516	Ig-like 55.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCACCCTCAAGAACTTCCAG	0.622																																						ENST00000570156.2		NA																	0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(25417-25419)aAg>aGg		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							91.0	101.0	97.0					1																	228562337		2097	4225	6322	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228562337A>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.22547A>G	1.37:g.228562337A>G	ENSP00000409493:p.Lys7516Arg	False	False		Somatic	0				OBSCN_ENST00000366707.4_Missense_Mutation_p.K5150R|OBSCN_ENST00000422127.1_Missense_Mutation_p.K7516R	p.K8473R	NM_001271223.2	NP_001258152.2	WXS	Illumina HiSeq	Phase_I	Q5VST9	OBSCN_HUMAN			108	25492	+		Prostate(94;0.0405)	7516					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.25418A>G	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.954837	0.92726	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	D;D	0.82526	-1.62;-1.62	5.16	5.16	0.70880	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.220098	0.36628	N	0.002485	D	0.84624	0.5513	N	0.21282	0.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84121	0.0406	10	0.33141	T	0.24	.	15.0022	0.71483	1.0:0.0:0.0:0.0	.	7516	Q5VST9	OBSCN_HUMAN	R	7516;5150	ENSP00000409493:K7516R;ENSP00000355668:K5150R	ENSP00000355668:K5150R	K	+	2	0	OBSCN	226628960	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	5.428000	0.66489	1.960000	0.56953	0.459000	0.35465	AAG		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_052843		1:228562337
SYNPO2L	79933	broad.mit.edu	37	10	75407582	75407582	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:75407582G>C	ENST00000394810.2	-	4	1977	c.1828C>G	c.(1828-1830)Cgc>Ggc	p.R610G	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R386G	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	610	Pro-rich.					cytoskeleton (GO:0005856)|nucleus (GO:0005634)|Z disc (GO:0030018)				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CGCTGCTCGCGAGCGCTGGGG	0.706																																						ENST00000394810.2		NA																	0				breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1828-1830)Cgc>Ggc		synaptopodin 2-like							22.0	27.0	26.0					10																	75407582		2001	4159	6160	SO:0001583	missense	79933					cytoplasm|cytoskeleton	actin binding	g.chr10:75407582G>C	AK022983	CCDS7331.1, CCDS44438.1	10q22.3	2007-12-19			ENSG00000166317	ENSG00000166317			23532	protein-coding gene	gene with protein product							Standard	XM_005270158		Approved	FLJ12921	uc001jut.4	Q9H987	OTTHUMG00000018471	ENST00000394810.2:c.1828C>G	10.37:g.75407582G>C	ENSP00000378289:p.Arg610Gly	False	False		Somatic	0				SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R386G	p.R610G	NM_001114133.1	NP_001107605.1	WXS	Illumina HiSeq	Phase_I	Q9H987	SYP2L_HUMAN			4	1977	-	Prostate(51;0.0112)		610			Pro-rich.		A5PKV9|Q68A20	Missense_Mutation	SNP	ENST00000394810.2	37	c.1828C>G	CCDS44438.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805525	0.50315	.	.	ENSG00000166317	ENST00000372873;ENST00000394810	T;T	0.27402	1.67;1.98	5.02	3.05	0.35203	.	0.000000	0.85682	D	0.000000	T	0.45935	0.1367	L	0.50333	1.59	0.43608	D	0.995978	D;D	0.89917	1.0;1.0	D;D	0.79784	0.98;0.993	T	0.31696	-0.9934	10	0.33141	T	0.24	-16.451	12.8585	0.57899	0.0:0.0:0.4834:0.5165	.	610;386	Q9H987;Q9H987-2	SYP2L_HUMAN;.	G	386;610	ENSP00000361964:R386G;ENSP00000378289:R610G	ENSP00000361964:R386G	R	-	1	0	SYNPO2L	75077588	0.221000	0.23642	0.834000	0.33040	0.795000	0.44927	0.966000	0.29331	1.313000	0.45069	0.549000	0.68633	CGC		0.706	SYNPO2L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316562.2	0	NM_024875		10:75407582
BLCAP	10904	broad.mit.edu	37	20	36147320	36147320	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr20:36147320C>G	ENST00000373537.2	-	2	571	c.257G>C	c.(256-258)gGc>gCc	p.G86A	BLCAP_ENST00000397134.1_Missense_Mutation_p.G86A|BLCAP_ENST00000414542.2_Missense_Mutation_p.G86A|NNAT_ENST00000062104.2_5'Flank|BLCAP_ENST00000397137.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397135.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397131.1_Missense_Mutation_p.G86A|NNAT_ENST00000346199.2_5'Flank	NM_001167823.1|NM_006698.3	NP_001161295.1|NP_006689.1	P62952	BLCAP_HUMAN	bladder cancer associated protein	86					apoptotic nuclear changes (GO:0030262)|cell cycle (GO:0007049)	integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				CCGTTAGGTGCCCACAACGCC	0.552																																						ENST00000414542.2		NA																	0				breast(1)|large_intestine(1)|lung(2)|stomach(1)	5						c.(256-258)gGc>gCc		bladder cancer associated protein							63.0	63.0	63.0					20																	36147320		2203	4300	6503	SO:0001583	missense	10904				apoptosis|cell cycle	integral to membrane		g.chr20:36147320C>G	AF053470	CCDS13295.1	20q11.23	2006-01-29			ENSG00000166619	ENSG00000166619			1055	protein-coding gene	gene with protein product		613110				10197429	Standard	NM_006698		Approved	BC10	uc021wdf.1	P62952	OTTHUMG00000032419	ENST00000373537.2:c.257G>C	20.37:g.36147320C>G	ENSP00000362637:p.Gly86Ala	True	False		Somatic	0				BLCAP_ENST00000397137.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397134.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397131.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397135.1_Missense_Mutation_p.G86A|BLCAP_ENST00000467603.1_Intron|BLCAP_ENST00000373537.2_Missense_Mutation_p.G86A	p.G86A	NM_001167820.1|NM_001167823.1	NP_001161292.1|NP_001161295.1	WXS	Illumina HiSeq	Phase_I	P62952	BLCAP_HUMAN			3	704	-		Myeloproliferative disorder(115;0.00878)	86					A2A2K7|O60629|Q9D3B5	Missense_Mutation	SNP	ENST00000373537.2	37	c.257G>C	CCDS13295.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050067	0.75846	.	.	ENSG00000166619	ENST00000373537;ENST00000397137;ENST00000414542;ENST00000397135;ENST00000397134;ENST00000397131;ENST00000432507	.	.	.	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.76870	0.4048	.	.	.	0.80722	D	1	D	0.67145	0.996	D	0.63033	0.91	T	0.80108	-0.1520	8	0.87932	D	0	.	15.7067	0.77588	0.0:1.0:0.0:0.0	.	86	P62952	BLCAP_HUMAN	A	86	.	ENSP00000362637:G86A	G	-	2	0	BLCAP	35580734	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.842000	0.69417	2.554000	0.86153	0.585000	0.79938	GGC		0.552	BLCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079113.2	0	NM_006698		20:36147320
TRAF3IP2	10758	broad.mit.edu	37	6	111913040	111913040	+	Missense_Mutation	SNP	G	G	A	rs376682410		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:111913040G>A	ENST00000340026.6	-	3	871	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C	TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.R84C|TRAF3IP2_ENST00000368761.5_Missense_Mutation_p.R84C|TRAF3IP2_ENST00000392556.4_5'UTR			O43734	CIKS_HUMAN	TRAF3 interacting protein 2	93	Mediates interaction with TRAF6.				B cell apoptotic process (GO:0001783)|humoral immune response (GO:0006959)|immunoglobulin secretion (GO:0048305)|intracellular signal transduction (GO:0035556)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)			p.R93C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		ACTTGAGTGCGCAGGCAGGTG	0.557																																						ENST00000368761.5		NA																	1	Substitution - Missense(1)	p.R93C(1)	large_intestine(1)	central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(250-252)Cgc>Tgc		TRAF3 interacting protein 2		G	CYS/ARG,CYS/ARG	0,4406		0,0,2203	70.0	72.0	71.0		250,250	4.2	0.7	6		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TRAF3IP2	NM_147686.2,NM_001164281.1	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	84/566,84/565	111913040	1,13005	2203	4300	6503	SO:0001583	missense	10758				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		g.chr6:111913040G>A	AF136405	CCDS5093.1, CCDS55049.1, CCDS55050.1	6q21	2008-09-05	2002-06-20	2005-04-13	ENSG00000056972	ENSG00000056972			1343	protein-coding gene	gene with protein product		607043	"""chromosome 6 open reading frame 5"", ""chromosome 6 open reading frame 2"""	C6orf4, C6orf5, C6orf6, C6orf2		10962033, 10962024	Standard	NR_028338		Approved	DKFZP586G0522, ACT1, CIKS	uc003pvf.4	O43734	OTTHUMG00000015379	ENST00000340026.6:c.277C>T	6.37:g.111913040G>A	ENSP00000345984:p.Arg93Cys	True	False		Somatic	0				TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.R84C|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.R93C|TRAF3IP2-AS1_ENST00000532353.1_RNA	p.R84C	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	WXS	Illumina HiSeq	Phase_I	O43734	CIKS_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)	2	728	-		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)	93					B2RAY9|E1P555|Q5R3A3|Q7Z6Q1|Q7Z6Q2|Q7Z6Q3|Q9H5W2|Q9H6Y3|Q9NS14|Q9UG72	Missense_Mutation	SNP	ENST00000340026.6	37	c.250C>T		.	.	.	.	.	.	.	.	.	.	G	12.60	1.985764	0.35036	0.0	1.16E-4	ENSG00000056972	ENST00000392555;ENST00000368761;ENST00000340026;ENST00000359831	T;T;T	0.50548	0.77;0.76;0.74	5.91	4.16	0.48862	.	0.000000	0.64402	D	0.000005	T	0.29190	0.0726	M	0.66939	2.045	0.80722	D	1	B;B;B	0.17268	0.012;0.021;0.002	B;B;B	0.15870	0.006;0.014;0.0	T	0.26258	-1.0108	10	0.87932	D	0	-22.4043	9.2352	0.37461	0.1654:0.0:0.8346:0.0	.	93;84;84	O43734;O43734-2;Q7Z6Q1	CIKS_HUMAN;.;.	C	93;84;93;84	ENSP00000357750:R84C;ENSP00000345984:R93C;ENSP00000352889:R84C	ENSP00000345984:R93C	R	-	1	0	TRAF3IP2	112019733	0.008000	0.16893	0.686000	0.30086	0.757000	0.42996	0.835000	0.27531	0.859000	0.35456	-0.263000	0.10527	CGC		0.557	TRAF3IP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000041841.2	0			6:111913040
C1S	716	broad.mit.edu	37	12	7172426	7172426	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr12:7172426C>A	ENST00000406697.1	+	9	1168	c.540C>A	c.(538-540)ttC>ttA	p.F180L	C1S_ENST00000402681.3_Missense_Mutation_p.F13L|C1S_ENST00000360817.5_Missense_Mutation_p.F180L|C1S_ENST00000328916.3_Missense_Mutation_p.F180L			P09871	C1S_HUMAN	complement component 1, s subcomponent	180	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGGATGTATTCACTGCACTGA	0.428																																					GBM(156;750 1943 12971 24779 31015)	ENST00000406697.1		NA																	0				breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(538-540)ttC>ttA		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						95.0	92.0	93.0					12																	7172426		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7172426C>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.540C>A	12.37:g.7172426C>A	ENSP00000385035:p.Phe180Leu	True	False		Somatic	0				C1S_ENST00000360817.5_Missense_Mutation_p.F180L|C1S_ENST00000402681.3_Missense_Mutation_p.F13L|C1S_ENST00000328916.3_Missense_Mutation_p.F180L	p.F180L			WXS	Illumina HiSeq	Phase_I	P09871	C1S_HUMAN			9	1168	+			180			CUB 2.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.540C>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.195206	0.78902	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681;ENST00000542978	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	6.17	3.05	0.35203	CUB (5);	0.000000	0.44483	D	0.000450	T	0.17152	0.0412	L	0.28054	0.825	0.36787	D	0.884655	P	0.39551	0.678	P	0.51777	0.679	T	0.18555	-1.0333	10	0.13853	T	0.58	.	8.1984	0.31411	0.0:0.6461:0.0:0.3539	.	180	P09871	C1S_HUMAN	L	180;180;180;169;13;13	ENSP00000385035:F180L;ENSP00000328173:F180L;ENSP00000354057:F180L;ENSP00000384171:F13L;ENSP00000442298:F13L	ENSP00000328173:F180L	F	+	3	2	C1S	7042687	1.000000	0.71417	0.972000	0.41901	0.871000	0.50021	0.473000	0.22132	0.941000	0.37499	0.655000	0.94253	TTC		0.428	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	0	NM_001734		12:7172426
SOCS5	9655	broad.mit.edu	37	2	46987120	46987120	+	Missense_Mutation	SNP	T	T	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:46987120T>C	ENST00000306503.5	+	2	1623	c.1451T>C	c.(1450-1452)cTg>cCg	p.L484P	SOCS5_ENST00000394861.2_Missense_Mutation_p.L484P	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	484	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CCTTTTAGCCTGCAGTATATC	0.398																																						ENST00000306503.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(1450-1452)cTg>cCg		suppressor of cytokine signaling 5							89.0	85.0	87.0					2																	46987120		2203	4300	6503	SO:0001583	missense	0				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46987120T>C	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1451T>C	2.37:g.46987120T>C	ENSP00000305133:p.Leu484Pro	False	False		Somatic	0				SOCS5_ENST00000394861.2_Missense_Mutation_p.L484P	p.L484P	NM_014011.4	NP_054730.1	WXS	Illumina HiSeq	Phase_I	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1623	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	484			SOCS box.		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.1451T>C	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.543224	0.65198	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	D;D	0.94497	-3.44;-3.44	5.43	5.43	0.79202	SOCS protein, C-terminal (4);SH2 motif (1);	0.000000	0.64402	D	0.000001	D	0.98229	0.9414	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99597	1.0977	10	0.87932	D	0	-13.9042	15.3001	0.73940	0.0:0.0:0.0:1.0	.	484	O75159	SOCS5_HUMAN	P	484	ENSP00000305133:L484P;ENSP00000378330:L484P	ENSP00000305133:L484P	L	+	2	0	SOCS5	46840624	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.868000	0.87116	2.279000	0.76181	0.533000	0.62120	CTG		0.398	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2	0			2:46987120
ITFG3	83986	broad.mit.edu	37	16	313364	313364	+	Missense_Mutation	SNP	A	A	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:313364A>T	ENST00000399932.3	+	9	1526	c.1075A>T	c.(1075-1077)Acg>Tcg	p.T359S	ITFG3_ENST00000450082.2_Missense_Mutation_p.T359S|ITFG3_ENST00000301679.2_Missense_Mutation_p.T359S|ITFG3_ENST00000301678.3_Missense_Mutation_p.T359S|ITFG3_ENST00000442458.2_Missense_Mutation_p.T359S|ITFG3_ENST00000600536.1_Missense_Mutation_p.T359S	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	359						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GCAGGAGCTGACGCCTCGCTG	0.652																																						ENST00000399932.3		NA																	0				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1075-1077)Acg>Tcg		integrin alpha FG-GAP repeat containing 3							44.0	53.0	50.0					16																	313364		2178	4270	6448	SO:0001583	missense	83986					integral to membrane		g.chr16:313364A>T	AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.1075A>T	16.37:g.313364A>T	ENSP00000382814:p.Thr359Ser	False	False		Somatic	0				ITFG3_ENST00000442458.2_Missense_Mutation_p.T359S|ITFG3_ENST00000301678.3_Missense_Mutation_p.T359S|ITFG3_ENST00000301679.2_Missense_Mutation_p.T359S|ITFG3_ENST00000600536.1_Missense_Mutation_p.T359S|ITFG3_ENST00000450082.2_Missense_Mutation_p.T359S	p.T359S			WXS	Illumina HiSeq	Phase_I	Q9H0X4	ITFG3_HUMAN			9	1526	+		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)	359					D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	ENST00000399932.3	37	c.1075A>T	CCDS10402.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	2.312|2.312	-0.357614|-0.357614	0.05138|0.05138	.|.	.|.	ENSG00000167930|ENSG00000167930	ENST00000399932;ENST00000301679;ENST00000442458;ENST00000301678;ENST00000450082|ENST00000424016	T;T;T;T;T|.	0.56611|.	0.45;0.45;0.45;0.45;0.45|.	4.23|4.23	-3.04|-3.04	0.05412|0.05412	Quinonprotein alcohol dehydrogenase-like (1);|.	1.032930|.	0.07604|.	N|.	0.924179|.	T|.	0.35068|.	0.0919|.	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.27559|.	0.181;0.181|.	B;B|.	0.26693|.	0.072;0.072|.	T|.	0.39663|.	-0.9603|.	10|.	0.12430|.	T|.	0.62|.	-19.7556|-19.7556	6.642|6.642	0.22914|0.22914	0.5895:0.1307:0.2798:0.0|0.5895:0.1307:0.2798:0.0	.|.	359;359|.	Q9H0X4-2;Q9H0X4|.	.;ITFG3_HUMAN|.	S|C	359|50	ENSP00000382814:T359S;ENSP00000301679:T359S;ENSP00000397477:T359S;ENSP00000301678:T359S;ENSP00000411394:T359S|.	ENSP00000301678:T359S|.	T|X	+|+	1|3	0|0	ITFG3|ITFG3	253365|253365	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.036000|0.036000	0.12997|0.12997	-0.408000|-0.408000	0.07169|0.07169	-0.463000|-0.463000	0.06973|0.06973	0.459000|0.459000	0.35465|0.35465	ACG|TGA		0.652	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134227.2	0	NM_032039		16:313364
BMS1P20	96610	broad.mit.edu	37	22	22663260	22663260	+	RNA	SNP	A	A	G	rs199801066		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr22:22663260A>G	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		CCTCTAAAATATGGGCCTCAT	0.249																																						ENST00000426066.1		NA																	0					NA																																														0							g.chr22:22663260A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663260A>G		False	False		Somatic	0						NR_027293.1		WXS	Illumina HiSeq	Phase_I					0	623	+			NA						RNA	SNP	ENST00000426066.1	37																																																																																						0.249	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1	0			22:22663260
PDCD11	22984	broad.mit.edu	37	10	105158241	105158241	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:105158241G>C	ENST00000369797.3	+	2	152	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	USMG5_ENST00000369815.1_5'Flank|USMG5_ENST00000309579.3_5'Flank|USMG5_ENST00000369811.1_5'Flank|USMG5_ENST00000369825.1_5'Flank|USMG5_ENST00000337003.4_5'Flank	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	20					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)			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)		CCACAAACCAGAGAAAGCTTT	0.418																																						ENST00000369797.3		NA																	0				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						c.(58-60)Gag>Cag		programmed cell death 11							138.0	128.0	131.0					10																	105158241		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105158241G>C	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.58G>C	10.37:g.105158241G>C	ENSP00000358812:p.Glu20Gln	False	False		Somatic	0					p.E20Q	NM_014976.1	NP_055791.1	WXS	Illumina HiSeq	Phase_I	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	2	152	+		Colorectal(252;0.0747)|Breast(234;0.128)	20					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.58G>C	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462398	0.43736	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.13420	2.59	5.3	5.3	0.74995	.	0.452187	0.25628	N	0.029371	T	0.17619	0.0423	M	0.69523	2.12	0.26868	N	0.967807	B	0.32620	0.378	B	0.36289	0.221	T	0.11842	-1.0571	10	0.29301	T	0.29	-23.9668	9.3697	0.38246	0.1602:0.0:0.8398:0.0	.	20	Q14690	RRP5_HUMAN	Q	20	ENSP00000358812:E20Q	ENSP00000358812:E20Q	E	+	1	0	PDCD11	105148231	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	4.614000	0.61183	2.499000	0.84300	0.555000	0.69702	GAG		0.418	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1	0			10:105158241
TCTE1	202500	broad.mit.edu	37	6	44248064	44248064	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:44248064G>A	ENST00000371505.4	-	5	1482	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.R151C|TCTE1_ENST00000371503.3_Missense_Mutation_p.R151C|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	454										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTGACAGGCGCAAGTCAAAT	0.582																																						ENST00000371505.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1360-1362)Cgc>Tgc		t-complex-associated-testis-expressed 1							90.0	86.0	88.0					6																	44248064		2203	4300	6503	SO:0001583	missense	202500							g.chr6:44248064G>A	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1360C>T	6.37:g.44248064G>A	ENSP00000360560:p.Arg454Cys	False	False		Somatic	0				TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Missense_Mutation_p.R151C|TCTE1_ENST00000371504.1_Missense_Mutation_p.R151C	p.R454C	NM_182539.3	NP_872345.2	WXS	Illumina HiSeq	Phase_I	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		5	1482	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		454					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.1360C>T	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.205354	0.58234	.	.	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	T;T;T	0.58506	0.58;0.33;0.33	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	T	0.65460	0.2693	L	0.59436	1.845	0.38815	D	0.955503	D	0.89917	1.0	D	0.91635	0.999	T	0.68727	-0.5332	10	0.62326	D	0.03	-36.3572	13.806	0.63233	0.0:0.0:0.8458:0.1542	.	454	Q5JU00	TCTE1_HUMAN	C	454;151;151	ENSP00000360560:R454C;ENSP00000360558:R151C;ENSP00000360559:R151C	ENSP00000360558:R151C	R	-	1	0	TCTE1	44356042	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.356000	0.59430	2.408000	0.81797	0.563000	0.77884	CGC		0.582	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	0	NM_182539		6:44248064
FAM65A	79567	broad.mit.edu	37	16	67576517	67576517	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr16:67576517C>G	ENST00000379312.3	+	13	1961	c.1840C>G	c.(1840-1842)Cat>Gat	p.H614D	FAM65A_ENST00000428437.2_Missense_Mutation_p.H624D|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000422602.2_Missense_Mutation_p.H630D|FAM65A_ENST00000042381.4_Missense_Mutation_p.H610D|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.H630D|CTD-2012K14.4_ENST00000564717.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	614	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		AAGCCCTACCCATACCACAGC	0.547																																						ENST00000540839.3		NA																	0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(1888-1890)Cat>Gat		family with sequence similarity 65, member A							420.0	390.0	400.0					16																	67576517		2198	4300	6498	SO:0001583	missense	79567					cytoplasm	binding	g.chr16:67576517C>G	AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.1840C>G	16.37:g.67576517C>G	ENSP00000368614:p.His614Asp	True	False		Somatic	0				FAM65A_ENST00000428437.2_Missense_Mutation_p.H624D|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000379312.3_Missense_Mutation_p.H614D|FAM65A_ENST00000422602.2_Missense_Mutation_p.H630D|FAM65A_ENST00000042381.4_Missense_Mutation_p.H610D	p.H630D			WXS	Illumina HiSeq	Phase_I	Q6ZS17	FA65A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)	14	2108	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	614			Pro-rich.		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	ENST00000379312.3	37	c.1888C>G	CCDS54028.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.90|14.90	2.672180|2.672180	0.47781|0.47781	.|.	.|.	ENSG00000039523|ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839|ENST00000428437	T;T;T|.	0.14640|.	2.49;2.49;2.49|.	4.72|4.72	1.63|1.63	0.23807|0.23807	.|.	1.276350|.	0.05009|.	N|.	0.470630|.	T|T	0.16769|0.16769	0.0403|0.0403	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.26400|.	0.039;0.039;0.039;0.148|.	B;B;B;B|.	0.19946|.	0.007;0.007;0.007;0.027|.	T|T	0.28267|0.28267	-1.0049|-1.0049	10|5	0.42905|.	T|.	0.14|.	0.0019|0.0019	6.4361|6.4361	0.21825|0.21825	0.0:0.6759:0.1505:0.1737|0.0:0.6759:0.1505:0.1737	.|.	624;630;614;630|.	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9|.	.;.;FA65A_HUMAN;.|.	D|R	614;610;630;624|604	ENSP00000368614:H614D;ENSP00000042381:H610D;ENSP00000400099:H630D|.	ENSP00000042381:H610D|.	H|P	+|+	1|2	0|0	FAM65A|FAM65A	66134018|66134018	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.112000|0.112000	0.19704|0.19704	0.853000|0.853000	0.27777|0.27777	0.178000|0.178000	0.19917|0.19917	0.436000|0.436000	0.28706|0.28706	CAT|CCA		0.547	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268866.3	0	NM_024519		16:67576517
SLC11A1	6556	broad.mit.edu	37	2	219251895	219251895	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:219251895G>C	ENST00000233202.6	+	6	853	c.513G>C	c.(511-513)tgG>tgC	p.W171C	SLC11A1_ENST00000539932.1_Missense_Mutation_p.W53C	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	171					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCACTCTGGGGTGGCGTCC	0.602																																						ENST00000233202.6		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(511-513)tgG>tgC		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							110.0	96.0	100.0					2																	219251895		2203	4300	6503	SO:0001583	missense	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219251895G>C	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.513G>C	2.37:g.219251895G>C	ENSP00000233202:p.Trp171Cys	True	False		Somatic	0				SLC11A1_ENST00000539932.1_Missense_Mutation_p.W53C	p.W171C	NM_000578.3	NP_000569.3	WXS	Illumina HiSeq	Phase_I	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	853	+		Renal(207;0.0474)	171					C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	c.513G>C	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866221	0.71949	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.70516	-0.49;-0.49	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.88544	0.6465	M	0.93328	3.405	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.971;0.995;0.995	D	0.91207	0.4996	10	0.87932	D	0	-12.7329	18.8984	0.92433	0.0:0.0:1.0:0.0	.	171;53;171	B4DQ73;C0H5Y3;P49279	.;.;NRAM1_HUMAN	C	171;53	ENSP00000233202:W171C;ENSP00000443435:W53C	ENSP00000233202:W171C	W	+	3	0	SLC11A1	218960139	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.007000	0.70731	2.694000	0.91930	0.655000	0.94253	TGG		0.602	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	0	NM_000578		2:219251895
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.G245S	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)	ENST00000420246.2	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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"""		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(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	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)Ggc>Agc	Other conserved DNA damage response genes	tumor protein p53		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	False	False	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)	Somatic	0				TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	865	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	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	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7577548
FCGBP	8857	broad.mit.edu	37	19	40408807	40408807	+	Silent	SNP	G	G	A	rs587708149	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:40408807G>A	ENST00000221347.6	-	8	4039	c.4032C>T	c.(4030-4032)aaC>aaT	p.N1344N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1344	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGATCTGGCCGTTGGCCAGCA	0.587													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19942	0.0		0.0	False		,,,				2504	0.001					ENST00000221347.6		NA																	0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(4030-4032)aaC>aaT		Fc fragment of IgG binding protein							23.0	20.0	21.0					19																	40408807		2203	4294	6497	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40408807G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.4032C>T	19.37:g.40408807G>A		False	False		Somatic	0					p.N1344N	NM_003890.2	NP_003881.2	WXS	Illumina HiSeq	Phase_I	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		8	4039	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1344			VWFD 3.		O95784	Silent	SNP	ENST00000221347.6	37	c.4032C>T	CCDS12546.1																																																																																				0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	0	NM_003890		19:40408807
ENTPD8	377841	broad.mit.edu	37	9	140330612	140330612	+	Silent	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr9:140330612G>T	ENST00000472938.1	-	6	919	c.903C>A	c.(901-903)ctC>ctA	p.L301L	ENTPD8_ENST00000344119.2_Silent_p.L301L|ENTPD8_ENST00000371506.2_Silent_p.L301L			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	301					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GGTTCTGGGGGAGGCTCAGCG	0.642																																						ENST00000371506.2		NA																	0				biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7						c.(901-903)ctC>ctA		ectonucleoside triphosphate diphosphohydrolase 8							51.0	50.0	50.0					9																	140330612		2202	4300	6502	SO:0001819	synonymous_variant	377841					integral to membrane|plasma membrane	ATP binding	g.chr9:140330612G>T	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.903C>A	9.37:g.140330612G>T		True	False		Somatic	0				ENTPD8_ENST00000472938.1_Silent_p.L301L|ENTPD8_ENST00000344119.2_Silent_p.L301L	p.L301L	NM_001033113.1	NP_001028285.1	WXS	Illumina HiSeq	Phase_I	Q5MY95	ENTP8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)	7	1086	-	all_cancers(76;0.0926)		301					A2BG17|Q6UVZ0	Silent	SNP	ENST00000472938.1	37	c.903C>A	CCDS43913.1																																																																																				0.642	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355991.1	0	NM_198585		9:140330612
DAPP1	27071	broad.mit.edu	37	4	100784951	100784951	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:100784951G>C	ENST00000512369.1	+	7	693	c.625G>C	c.(625-627)Gac>Cac	p.D209H	DAPP1_ENST00000296414.7_Missense_Mutation_p.D209H	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	209	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		TCGGATCCTAGACCTAACAGA	0.303																																						ENST00000296414.7		NA																	0				endometrium(1)|kidney(1)|lung(4)	6						c.(625-627)Gac>Cac		dual adaptor of phosphotyrosine and 3-phosphoinositides							75.0	74.0	74.0					4																	100784951		1807	4072	5879	SO:0001583	missense	27071				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity	g.chr4:100784951G>C	AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.625G>C	4.37:g.100784951G>C	ENSP00000423602:p.Asp209His	False	False		Somatic	0				DAPP1_ENST00000512369.1_Missense_Mutation_p.D209H	p.D209H			WXS	Illumina HiSeq	Phase_I	Q9UN19	DAPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)	7	706	+			209			PH.		Q8TCK5|Q9UHF2	Missense_Mutation	SNP	ENST00000512369.1	37	c.625G>C	CCDS47112.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032235	0.75504	.	.	ENSG00000070190	ENST00000296414;ENST00000512369	T;T	0.76709	-1.04;-1.04	5.72	4.88	0.63580	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.045133	0.85682	D	0.000000	D	0.87341	0.6153	M	0.78916	2.43	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.985;0.994	D	0.88675	0.3198	10	0.72032	D	0.01	-19.8161	13.5784	0.61888	0.076:0.0:0.9239:0.0	.	209;209	Q9UN19-2;Q9UN19	.;DAPP1_HUMAN	H	209	ENSP00000296414:D209H;ENSP00000423602:D209H	ENSP00000296414:D209H	D	+	1	0	DAPP1	101003974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.093000	0.64517	1.410000	0.46936	0.655000	0.94253	GAC		0.303	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1	0			4:100784951
PHOSPHO1	162466	broad.mit.edu	37	17	47301945	47301945	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr17:47301945C>A	ENST00000310544.4	-	3	594	c.467G>T	c.(466-468)gGa>gTa	p.G156V	PHOSPHO1_ENST00000413580.1_Missense_Mutation_p.G181V|PHOSPHO1_ENST00000514112.1_Missense_Mutation_p.G181V			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1	156					bone mineralization involved in bone maturation (GO:0035630)|dephosphorylation (GO:0016311)|endochondral ossification (GO:0001958)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of bone mineralization (GO:0030500)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|phosphocholine phosphatase activity (GO:0052731)|phosphoethanolamine phosphatase activity (GO:0052732)|pyrophosphatase activity (GO:0016462)							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	AGCCAGCAGTCCCCGCGCATC	0.701																																						ENST00000413580.1		NA																	0					NA						c.(541-543)gGa>gTa		phosphatase, orphan 1	Choline(DB00122)						8.0	9.0	9.0					17																	47301945		2174	4237	6411	SO:0001583	missense	0				regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity	g.chr17:47301945C>A	AJ457189	CCDS11547.1, CCDS45726.1	17q21.32	2008-05-02				ENSG00000173868			16815	protein-coding gene	gene with protein product						12464021	Standard	NM_178500		Approved		uc010wlv.1	Q8TCT1		ENST00000310544.4:c.467G>T	17.37:g.47301945C>A	ENSP00000311925:p.Gly156Val	True	False		Somatic	0				PHOSPHO1_ENST00000514112.1_Missense_Mutation_p.G181V|PHOSPHO1_ENST00000310544.4_Missense_Mutation_p.G156V	p.G181V	NM_001143804.1|NM_178500.3	NP_001137276.1|NP_848595.1	WXS	Illumina HiSeq	Phase_I	Q8TCT1	PHOP1_HUMAN	Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		3	959	-			156					E9PAM0|Q17RU6	Missense_Mutation	SNP	ENST00000310544.4	37	c.542G>T	CCDS11547.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626389	0.87560	.	.	ENSG00000173868	ENST00000310544;ENST00000413580;ENST00000514112;ENST00000511066	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.38	4.38	0.52667	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.86468	0.5940	M	0.90082	3.085	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89151	0.3523	10	0.66056	D	0.02	.	15.7956	0.78407	0.0:0.864:0.136:0.0	.	156;181	Q8TCT1;E9PAM0	PHOP1_HUMAN;.	V	156;181;181;156	ENSP00000311925:G156V;ENSP00000406909:G181V;ENSP00000427694:G181V;ENSP00000426095:G156V	ENSP00000311925:G156V	G	-	2	0	PHOSPHO1	44656944	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.292000	0.78731	2.510000	0.84645	0.462000	0.41574	GGA		0.701	PHOSPHO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364467.2	0			17:47301945
MIR548I1	100302204	broad.mit.edu	37	3	125509346	125509346	+	lincRNA	SNP	G	G	A	rs200103239	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:125509346G>A	ENST00000610060.1	+	0	194				MIR548I1_ENST00000408810.1_RNA																							ggcaaaatccgcaattacttt	0.398													.|||	10	0.00199681	0.0	0.0029	5008	,	,		22187	0.003		0.005	False		,,,				2504	0.0					ENST00000408810.1		NA																	0					NA															55.0	59.0	58.0					3																	125509346		876	1991	2867			0							g.chr3:125509346G>A																													3.37:g.125509346G>A		False	False		Somatic	0						NR_031687.1		WXS	Illumina HiSeq	Phase_I					0	49	-			NA						RNA	SNP	ENST00000610060.1	37																																																																																						0.398	RP11-379B18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000471880.1	0			3:125509346
AMPH	273	broad.mit.edu	37	7	38502605	38502605	+	Silent	SNP	G	G	A	rs372756485		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:38502605G>A	ENST00000356264.2	-	10	1073	c.858C>T	c.(856-858)ccC>ccT	p.P286P	AMPH_ENST00000325590.5_Silent_p.P286P|AMPH_ENST00000428293.2_Silent_p.P286P	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	286					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GTGCTGGTGCGGGAGACGCAG	0.547																																						ENST00000356264.2		NA																	0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(856-858)ccC>ccT		amphiphysin		G	,	0,4406		0,0,2203	162.0	152.0	155.0		858,858	-4.6	1.0	7		155	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	AMPH	NM_001635.3,NM_139316.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	286/696,286/654	38502605	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38502605G>A		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.858C>T	7.37:g.38502605G>A		True	False		Somatic	0				AMPH_ENST00000325590.5_Silent_p.P286P|AMPH_ENST00000428293.2_Silent_p.P286P	p.P286P	NM_001635.3	NP_001626.1	WXS	Illumina HiSeq	Phase_I	P49418	AMPH_HUMAN			10	1073	-			286					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Silent	SNP	ENST00000356264.2	37	c.858C>T	CCDS5456.1	.	.	.	.	.	.	.	.	.	.	G	7.801	0.713694	0.15306	0.0	1.16E-4	ENSG00000078053	ENST00000441628	.	.	.	6.17	-4.56	0.03431	.	.	.	.	.	T	0.36386	0.0965	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37502	-0.9703	4	.	.	.	-16.034	1.5039	0.02482	0.2196:0.2615:0.324:0.1949	.	.	.	.	C	37	.	.	R	-	1	0	AMPH	38469130	0.005000	0.15991	0.968000	0.41197	0.560000	0.35617	-1.526000	0.02229	-0.560000	0.06102	-1.202000	0.01658	CGC		0.547	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	0	NM_001635		7:38502605
TNFAIP3	7128	broad.mit.edu	37	6	138202266	138202266	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr6:138202266G>A	ENST00000237289.4	+	9	2249	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	728	Interaction with TNIP1. {ECO:0000250}.|Required for lysosomal localization and for TRAF2 lysosomal degradation.|Sufficient for inhibitory activity of TNF-induced NF-kappa-B activity. {ECO:0000250}.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTGGCCTGCCGCAGCGAGGAG	0.657			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)	ENST00000237289.4		NA		Rec	yes		6	6q23	7128	"""D, N, F"""	"""tumor necrosis factor, alpha-induced protein 3"""			L			"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""		25	Whole gene deletion(25)	p.0?(25)	haematopoietic_and_lymphoid_tissue(25)	breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225						c.(2182-2184)cGc>cAc		tumor necrosis factor, alpha-induced protein 3							45.0	52.0	50.0					6																	138202266		2203	4300	6503	SO:0001583	missense	7128				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr6:138202266G>A	M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.2183G>A	6.37:g.138202266G>A	ENSP00000237289:p.Arg728His	False	False		Somatic	0					p.R728H	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	WXS	Illumina HiSeq	Phase_I	P21580	TNAP3_HUMAN		GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)	9	2249	+	Breast(32;0.135)|Colorectal(23;0.24)		728			Interaction with NAF1 (By similarity).		B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	c.2183G>A	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	G	36	5.621768	0.96660	.	.	ENSG00000118503	ENST00000237289;ENST00000535574	T	0.46819	0.86	5.67	5.67	0.87782	Zinc finger, A20-type (3);	0.253340	0.44902	D	0.000405	T	0.50786	0.1636	L	0.48642	1.525	0.53005	D	0.999965	D	0.58620	0.983	P	0.57283	0.817	T	0.50056	-0.8872	10	0.56958	D	0.05	-19.7323	17.9431	0.89031	0.0:0.0:1.0:0.0	.	728	P21580	TNAP3_HUMAN	H	728	ENSP00000237289:R728H	ENSP00000237289:R728H	R	+	2	0	TNFAIP3	138243959	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.069000	0.71209	2.673000	0.90976	0.563000	0.77884	CGC		0.657	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1	0			6:138202266
FBXL12	54850	broad.mit.edu	37	19	9921950	9921950	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:9921950G>A	ENST00000247977.4	-	3	844	c.603C>T	c.(601-603)ctC>ctT	p.L201L	FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000585379.1_Silent_p.L148L|FBXL12_ENST00000591009.1_Silent_p.L148L|FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12	201					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						GCAGATAGCTGAGCTCCTGCA	0.667																																						ENST00000247977.4		NA																	0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						c.(601-603)ctC>ctT		F-box and leucine-rich repeat protein 12							32.0	32.0	32.0					19																	9921950		2199	4292	6491	SO:0001819	synonymous_variant	54850						protein binding	g.chr19:9921950G>A	AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"""F-boxes / Leucine-rich repeats"""	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8		ENST00000247977.4:c.603C>T	19.37:g.9921950G>A		False	False		Somatic	0				FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000585379.1_Silent_p.L148L|FBXL12_ENST00000591009.1_Silent_p.L148L|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000586651.1_3'UTR	p.L201L	NM_017703.1	NP_060173.1	WXS	Illumina HiSeq	Phase_I	Q9NXK8	FXL12_HUMAN			3	844	-			201					B3KSJ8|Q9H5K4	Silent	SNP	ENST00000247977.4	37	c.603C>T	CCDS12218.1																																																																																				0.667	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450265.1	0	NM_017703		19:9921950
MAP3K9	4293	broad.mit.edu	37	14	71200060	71200060	+	Splice_Site	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr14:71200060C>G	ENST00000554752.2	-	11	2026		c.e11-1		MAP3K9_ENST00000555993.2_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site|MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000381250.4_Splice_Site	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9						activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		tcctcatcctctgtgaagatg	0.542																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2		NA																	0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.e11-1		mitogen-activated protein kinase kinase kinase 9							25.0	27.0	26.0					14																	71200060		2201	4300	6501	SO:0001630	splice_region_variant	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71200060C>G	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.2027-1G>C	14.37:g.71200060C>G		False	False		Somatic	0				MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000555993.2_Splice_Site|MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site				WXS	Illumina HiSeq	Phase_I	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	11	2026	-			NA					A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Splice_Site	SNP	ENST00000554752.2	37			.	.	.	.	.	.	.	.	.	.	C	18.23	3.578227	0.65878	.	.	ENSG00000006432	ENST00000542284	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	T	0.73892	0.3645	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73366	-0.4005	4	.	.	.	.	17.9928	0.89174	0.0:1.0:0.0:0.0	.	.	.	.	Q	392	.	.	E	-	1	0	MAP3K9	70269813	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	5.862000	0.69560	2.478000	0.83669	0.561000	0.74099	GAG		0.542	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2	0		Intron	14:71200060
DRD1	1812	broad.mit.edu	37	5	174869707	174869707	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:174869707C>G	ENST00000393752.2	-	2	1388	c.396G>C	c.(394-396)gaG>gaC	p.E132D		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	132					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TCATCTTTCTCTCATACCGGA	0.542																																						ENST00000393752.2		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(394-396)gaG>gaC		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						105.0	110.0	108.0					5																	174869707		2203	4300	6503	SO:0001583	missense	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869707C>G	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.396G>C	5.37:g.174869707C>G	ENSP00000377353:p.Glu132Asp	True	False		Somatic	0					p.E132D	NM_000794.3	NP_000785.1	WXS	Illumina HiSeq	Phase_I	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1388	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	132					B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	c.396G>C	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172325	0.38315	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.72505	-0.66	5.55	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.046619	0.85682	D	0.000000	T	0.81079	0.4748	M	0.82517	2.595	0.51233	D	0.999911	D	0.60575	0.988	P	0.61722	0.893	T	0.81150	-0.1064	10	0.62326	D	0.03	.	8.8539	0.35217	0.0:0.772:0.0:0.228	.	132	P21728	DRD1_HUMAN	D	132	ENSP00000377353:E132D	ENSP00000327652:E132D	E	-	3	2	DRD1	174802313	1.000000	0.71417	0.978000	0.43139	0.401000	0.30781	1.935000	0.40173	0.819000	0.34492	0.655000	0.94253	GAG		0.542	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	0	NM_000794		5:174869707
FAM114A1	92689	broad.mit.edu	37	4	38933133	38933133	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:38933133C>T	ENST00000358869.2	+	11	1399	c.1223C>T	c.(1222-1224)gCa>gTa	p.A408V	FAM114A1_ENST00000515037.1_Missense_Mutation_p.A201V	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	408						cytoplasm (GO:0005737)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTAGATGTGGCAAAAGTGTCC	0.453																																						ENST00000358869.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1222-1224)gCa>gTa		family with sequence similarity 114, member A1							96.0	93.0	94.0					4																	38933133		2203	4300	6503	SO:0001583	missense	92689					cytoplasm		g.chr4:38933133C>T		CCDS3447.1	4p14	2006-09-21			ENSG00000197712	ENSG00000197712			25087	protein-coding gene	gene with protein product							Standard	NM_138389		Approved	Noxp20	uc003gtn.3	Q8IWE2	OTTHUMG00000128583	ENST00000358869.2:c.1223C>T	4.37:g.38933133C>T	ENSP00000351740:p.Ala408Val	True	False		Somatic	0				FAM114A1_ENST00000515037.1_Missense_Mutation_p.A201V	p.A408V	NM_138389.2	NP_612398.2	WXS	Illumina HiSeq	Phase_I	Q8IWE2	NXP20_HUMAN			11	1399	+			408					A8K9W6|Q6MZV4|Q9BVL6	Missense_Mutation	SNP	ENST00000358869.2	37	c.1223C>T	CCDS3447.1	.	.	.	.	.	.	.	.	.	.	C	7.958	0.746323	0.15710	.	.	ENSG00000197712	ENST00000515037;ENST00000358869;ENST00000355404	T;T	0.22743	1.94;2.92	6.07	3.04	0.35103	.	1.106540	0.06528	N	0.740982	T	0.18882	0.0453	L	0.57536	1.79	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.06405	0.002;0.002	T	0.45381	-0.9265	10	0.02654	T	1	-0.0049	7.2024	0.25889	0.1269:0.6457:0.0:0.2274	.	201;408	Q6MZV4;Q8IWE2	.;NXP20_HUMAN	V	201;408;201	ENSP00000424115:A201V;ENSP00000351740:A408V	ENSP00000347569:A201V	A	+	2	0	FAM114A1	38609528	0.600000	0.26899	0.002000	0.10522	0.268000	0.26511	1.217000	0.32455	0.907000	0.36646	0.655000	0.94253	GCA		0.453	FAM114A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250436.1	0	NM_138389		4:38933133
THRAP3	9967	broad.mit.edu	37	1	36752630	36752630	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:36752630C>T	ENST00000354618.5	+	4	1023	c.799C>T	c.(799-801)Cct>Tct	p.P267S	THRAP3_ENST00000469141.2_Missense_Mutation_p.P267S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	267	Ser-rich.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTCACCCCGTCCTAGCCCCGT	0.617			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)	ENST00000354618.5		NA		Dom	yes		1	1p34.3	9967	T	thyroid hormone receptor associated protein 3 (TRAP150)			M	USP6		aneurysmal bone cysts		0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37						c.(799-801)Cct>Tct		thyroid hormone receptor associated protein 3							65.0	66.0	66.0					1																	36752630		2203	4300	6503	SO:0001583	missense	9967				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr1:36752630C>T	AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.799C>T	1.37:g.36752630C>T	ENSP00000346634:p.Pro267Ser	False	False		Somatic	0				THRAP3_ENST00000469141.2_Missense_Mutation_p.P267S	p.P267S	NM_005119.3	NP_005110.2	WXS	Illumina HiSeq	Phase_I	Q9Y2W1	TR150_HUMAN			4	1023	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	267			Ser-rich.		D3DPS5|Q5VTK6	Missense_Mutation	SNP	ENST00000354618.5	37	c.799C>T	CCDS405.1	.	.	.	.	.	.	.	.	.	.	C	19.54	3.846324	0.71603	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.12879	2.64;2.64	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	T	0.34454	0.0898	L	0.56769	1.78	0.54753	D	0.999988	D	0.89917	1.0	D	0.87578	0.998	T	0.00883	-1.1528	10	0.20046	T	0.44	-12.8835	19.1531	0.93496	0.0:1.0:0.0:0.0	.	267	Q9Y2W1	TR150_HUMAN	S	267	ENSP00000346634:P267S;ENSP00000433825:P267S	ENSP00000346634:P267S	P	+	1	0	THRAP3	36525217	0.987000	0.35691	1.000000	0.80357	0.998000	0.95712	3.482000	0.53186	2.753000	0.94483	0.655000	0.94253	CCT		0.617	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021688.2	0	NM_005119		1:36752630
DIDO1	11083	broad.mit.edu	37	20	61512310	61512310	+	Silent	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr20:61512310G>T	ENST00000266070.4	-	16	5323	c.4998C>A	c.(4996-4998)ggC>ggA	p.G1666G	DIDO1_ENST00000395343.1_Silent_p.G1666G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1666					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCTGCAGGGCGCCGCAAGGCG	0.726																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4		NA																	0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4996-4998)ggC>ggA		death inducer-obliterator 1							12.0	14.0	13.0					20																	61512310		2181	4255	6436	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512310G>T	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4998C>A	20.37:g.61512310G>T		False	False		Somatic	0				DIDO1_ENST00000395343.1_Silent_p.G1666G	p.G1666G	NM_033081.2	NP_149072.2	WXS	Illumina HiSeq	Phase_I	Q9BTC0	DIDO1_HUMAN			16	5323	-	Breast(26;5.68e-08)		1666					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.4998C>A	CCDS33506.1																																																																																				0.726	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	0	NM_080796		20:61512310
SCN5A	6331	broad.mit.edu	37	3	38671831	38671831	+	Silent	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:38671831C>G	ENST00000333535.4	-	3	512	c.363G>C	c.(361-363)cgG>cgC	p.R121R	SCN5A_ENST00000425664.1_Silent_p.R121R|SCN5A_ENST00000414099.2_Silent_p.R121R|SCN5A_ENST00000451551.2_Silent_p.R121R|SCN5A_ENST00000413689.1_Silent_p.R121R|SCN5A_ENST00000450102.2_Silent_p.R121R|SCN5A_ENST00000423572.2_Silent_p.R121R|SCN5A_ENST00000455624.2_Silent_p.R121R|SCN5A_ENST00000443581.1_Silent_p.R121R|SCN5A_ENST00000449557.2_Silent_p.R121R			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	121					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCCGCTCTCCGGATGGGGT	0.557																																						ENST00000413689.1		NA																	0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(361-363)cgG>cgC		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						90.0	96.0	94.0					3																	38671831		2072	4242	6314	SO:0001819	synonymous_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38671831C>G	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.363G>C	3.37:g.38671831C>G		False	False		Somatic	0				SCN5A_ENST00000423572.2_Silent_p.R121R|SCN5A_ENST00000450102.2_Silent_p.R121R|SCN5A_ENST00000425664.1_Silent_p.R121R|SCN5A_ENST00000449557.2_Silent_p.R121R|SCN5A_ENST00000414099.2_Silent_p.R121R|SCN5A_ENST00000443581.1_Silent_p.R121R|SCN5A_ENST00000455624.2_Silent_p.R121R|SCN5A_ENST00000451551.2_Silent_p.R121R|SCN5A_ENST00000333535.4_Silent_p.R121R	p.R121R	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	WXS	Illumina HiSeq	Phase_I	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	3	556	-	Medulloblastoma(35;0.163)		121					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Silent	SNP	ENST00000333535.4	37	c.363G>C	CCDS46796.1																																																																																				0.557	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	0	NM_198056		3:38671831
CLCC1	23155	broad.mit.edu	37	1	109477302	109477302	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:109477302G>A	ENST00000369971.2	-	11	1775	c.1646C>T	c.(1645-1647)cCc>cTc	p.P549L	CLCC1_ENST00000348264.2_Missense_Mutation_p.P364L|CLCC1_ENST00000369970.3_Missense_Mutation_p.P499L|CLCC1_ENST00000369969.2_Missense_Mutation_p.P428L|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000369968.2_Missense_Mutation_p.P364L|CLCC1_ENST00000356970.2_Missense_Mutation_p.P549L|CLCC1_ENST00000415331.1_Missense_Mutation_p.P499L|CLCC1_ENST00000302500.4_Missense_Mutation_p.P428L|CLCC1_ENST00000482889.1_Intron	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	549						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CTAGCCACAGGGGCTGCTGAC	0.547																																						ENST00000369971.2		NA																	0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14						c.(1645-1647)cCc>cTc		chloride channel CLIC-like 1							76.0	69.0	72.0					1																	109477302		2203	4300	6503	SO:0001583	missense	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109477302G>A	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1646C>T	1.37:g.109477302G>A	ENSP00000358988:p.Pro549Leu	True	False		Somatic	0				CLCC1_ENST00000415331.1_Missense_Mutation_p.P499L|CLCC1_ENST00000482889.1_Intron|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369968.2_Missense_Mutation_p.P364L|CLCC1_ENST00000302500.4_Missense_Mutation_p.P428L|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.P549L|CLCC1_ENST00000348264.2_Missense_Mutation_p.P364L|CLCC1_ENST00000369969.2_Missense_Mutation_p.P428L|CLCC1_ENST00000369970.3_Missense_Mutation_p.P499L	p.P549L	NM_001048210.1	NP_001041675.1	WXS	Illumina HiSeq	Phase_I	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	11	1775	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	549					O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	ENST00000369971.2	37	c.1646C>T	CCDS41362.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604243	0.87157	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.81	1.51	0.23008	.	0.372474	0.23454	N	0.048004	T	0.15652	0.0377	L	0.51422	1.61	0.34281	D	0.682164	B;B;B;B	0.17667	0.008;0.008;0.023;0.01	B;B;B;B	0.16289	0.011;0.011;0.009;0.015	T	0.02868	-1.1100	10	0.72032	D	0.01	-0.2661	3.6445	0.08180	0.2808:0.0:0.5081:0.2112	.	364;428;499;549	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	L	549;549;499;428;364;499;364;428	ENSP00000349456:P549L;ENSP00000358988:P549L;ENSP00000411591:P499L;ENSP00000358986:P428L;ENSP00000358985:P364L;ENSP00000358987:P499L;ENSP00000337243:P364L;ENSP00000306552:P428L	ENSP00000306552:P428L	P	-	2	0	CLCC1	109278825	0.063000	0.20901	0.224000	0.23877	0.685000	0.39939	0.037000	0.13840	0.392000	0.25172	0.655000	0.94253	CCC		0.547	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	0	NM_015127		1:109477302
TLN1	7094	broad.mit.edu	37	9	35700280	35700280	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr9:35700280C>T	ENST00000314888.9	-	49	6921	c.6568G>A	c.(6568-6570)Gtt>Att	p.V2190I	TLN1_ENST00000540444.1_Missense_Mutation_p.V2078I	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2190					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCAGCAGCAACGGCCTTGGCG	0.547																																						ENST00000314888.9		NA																	0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(6568-6570)Gtt>Att		talin 1							71.0	70.0	70.0					9																	35700280		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35700280C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6568G>A	9.37:g.35700280C>T	ENSP00000316029:p.Val2190Ile	False	False		Somatic	0				TLN1_ENST00000540444.1_Missense_Mutation_p.V2078I	p.V2190I	NM_006289.3	NP_006280.3	WXS	Illumina HiSeq	Phase_I	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		49	6921	-	all_epithelial(49;0.167)		2190					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.6568G>A	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358745	0.95854	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.74421	-0.84;-0.83	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.77942	0.4206	M	0.85859	2.78	0.80722	D	1	D	0.54207	0.965	B	0.39771	0.309	D	0.84352	0.0533	10	0.87932	D	0	-20.4308	18.3575	0.90362	0.0:1.0:0.0:0.0	.	2190	Q9Y490	TLN1_HUMAN	I	2190;2078	ENSP00000316029:V2190I;ENSP00000442981:V2078I	ENSP00000316029:V2190I	V	-	1	0	TLN1	35690280	1.000000	0.71417	0.788000	0.31933	0.938000	0.57974	7.747000	0.85070	2.436000	0.82500	0.655000	0.94253	GTT		0.547	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	0	NM_006289		9:35700280
ARHGAP31	57514	broad.mit.edu	37	3	119121031	119121031	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:119121031C>T	ENST00000264245.4	+	10	1964	c.1432C>T	c.(1432-1434)Cgt>Tgt	p.R478C		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	478					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCCCTCGCCGCGTAACCAGCG	0.587																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4		NA																	0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(1432-1434)Cgt>Tgt		Rho GTPase activating protein 31							66.0	75.0	72.0					3																	119121031		2071	4213	6284	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119121031C>T		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1432C>T	3.37:g.119121031C>T	ENSP00000264245:p.Arg478Cys	False	False		Somatic	0					p.R478C	NM_020754.2	NP_065805.2	WXS	Illumina HiSeq	Phase_I	Q2M1Z3	RHG31_HUMAN			10	1964	+			478					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.1432C>T	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250570	0.80135	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.12879	2.64	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000002	T	0.26882	0.0658	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	P	0.53185	0.72	T	0.00544	-1.1679	10	0.87932	D	0	.	13.1802	0.59649	0.1592:0.8408:0.0:0.0	.	478	Q2M1Z3	RHG31_HUMAN	C	478	ENSP00000264245:R478C	ENSP00000264245:R478C	R	+	1	0	ARHGAP31	120603721	0.997000	0.39634	0.444000	0.26895	0.924000	0.55760	3.505000	0.53356	2.774000	0.95407	0.655000	0.94253	CGT		0.587	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2	0			3:119121031
TMEM214	54867	broad.mit.edu	37	2	27261588	27261588	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:27261588G>C	ENST00000238788.9	+	12	1374	c.1312G>C	c.(1312-1314)Gaa>Caa	p.E438Q	TMEM214_ENST00000404032.3_Missense_Mutation_p.E393Q	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	438					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GTCTTTGCAAGAAACCATTCA	0.512																																						ENST00000238788.9		NA																	0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1312-1314)Gaa>Caa		transmembrane protein 214							58.0	62.0	61.0					2																	27261588		2043	4181	6224	SO:0001583	missense	54867					integral to membrane	protein binding	g.chr2:27261588G>C		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1312G>C	2.37:g.27261588G>C	ENSP00000238788:p.Glu438Gln	True	False		Somatic	0				TMEM214_ENST00000404032.3_Missense_Mutation_p.E393Q	p.E438Q	NM_017727.4	NP_060197.4	WXS	Illumina HiSeq	Phase_I	Q6NUQ4	TM214_HUMAN			12	1374	+			438					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	c.1312G>C	CCDS42664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.239182|4.239182	0.79800|0.79800	.|.	.|.	ENSG00000119777|ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397;ENST00000444135|ENST00000425720	T;T;T|.	0.46819|.	0.86;0.86;0.86|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.088644|.	0.85682|.	D|.	0.000000|.	T|T	0.74718|0.74718	0.3753|0.3753	M|M	0.71581|0.71581	2.175|2.175	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.67145|.	0.996;0.985|.	P;D|.	0.63113|.	0.902;0.911|.	T|T	0.73613|0.73613	-0.3927|-0.3927	10|5	0.40728|.	T|.	0.16|.	-12.2017|-12.2017	16.735|16.735	0.85444|0.85444	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	393;438|.	Q6NUQ4-2;Q6NUQ4|.	.;TM214_HUMAN|.	Q|N	438;393;178;98|222	ENSP00000238788:E438Q;ENSP00000384417:E393Q;ENSP00000392442:E98Q|.	ENSP00000238788:E438Q|.	E|K	+|+	1|3	0|2	TMEM214|TMEM214	27115092|27115092	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.607000|7.607000	0.82883|0.82883	2.700000|2.700000	0.92200|0.92200	0.561000|0.561000	0.74099|0.74099	GAA|AAG		0.512	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	0	NM_017727		2:27261588
CCDC148	130940	broad.mit.edu	37	2	159077147	159077147	+	Nonsense_Mutation	SNP	T	T	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:159077147T>A	ENST00000283233.5	-	11	1643	c.1330A>T	c.(1330-1332)Aag>Tag	p.K444*	CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Nonsense_Mutation_p.K453*	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	444										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATTAATTTCTTCAGTTCTTCT	0.328																																						ENST00000283233.5		NA																	0				endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1330-1332)Aag>Tag		coiled-coil domain containing 148							121.0	109.0	113.0					2																	159077147		2203	4300	6503	SO:0001587	stop_gained	130940							g.chr2:159077147T>A		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1330A>T	2.37:g.159077147T>A	ENSP00000283233:p.Lys444*	False	False		Somatic	0				CCDC148_ENST00000409187.1_Nonsense_Mutation_p.K453*|CCDC148-AS1_ENST00000412781.2_RNA	p.K444*	NM_138803.3	NP_620158.3	WXS	Illumina HiSeq	Phase_I	Q8NFR7	CC148_HUMAN			11	1643	-			444					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Nonsense_Mutation	SNP	ENST00000283233.5	37	c.1330A>T	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	T	38	7.213421	0.98139	.	.	ENSG00000153237	ENST00000283233;ENST00000409187	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.6426	13.8506	0.63494	0.0:0.0:0.0:1.0	.	.	.	.	X	444;453	.	ENSP00000283233:K444X	K	-	1	0	CCDC148	158785393	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.843000	0.62838	2.203000	0.70933	0.460000	0.39030	AAG		0.328	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	0	NM_138803		2:159077147
GGT3P	2679	broad.mit.edu	37	22	18769259	18769259	+	RNA	SNP	A	A	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr22:18769259A>C	ENST00000412448.1	-	0	1027							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										AGAACACCTCACTGGGGCAGA	0.652																																						ENST00000412448.1		NA																	0					NA																																														0							g.chr22:18769259A>C			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769259A>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1027	-			NA						RNA	SNP	ENST00000412448.1	37																																																																																						0.652	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	0	NR_003267		22:18769259
PPARGC1B	133522	broad.mit.edu	37	5	149216585	149216585	+	Missense_Mutation	SNP	C	C	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr5:149216585C>G	ENST00000309241.5	+	8	2599	c.2567C>G	c.(2566-2568)tCt>tGt	p.S856C	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.S856C|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S817C|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S792C	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	856					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CGCTCAAGCTCTGGCTCTTCA	0.637																																						ENST00000309241.5		NA																	0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2566-2568)tCt>tGt		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							59.0	66.0	64.0					5																	149216585		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216585C>G	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2567C>G	5.37:g.149216585C>G	ENSP00000312649:p.Ser856Cys	False	False		Somatic	0				PPARGC1B_ENST00000394320.3_Missense_Mutation_p.S856C|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S792C|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S817C	p.S856C	NM_133263.3	NP_573570.3	WXS	Illumina HiSeq	Phase_I	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2599	+			856					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.2567C>G	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013777	0.75161	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.8	5.8	0.92144	.	0.619197	0.15973	N	0.235681	T	0.72277	0.3440	M	0.62723	1.935	0.52501	D	0.999955	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.997;0.999;0.998;0.999	T	0.71859	-0.4465	10	0.72032	D	0.01	-20.0049	18.2397	0.89963	0.0:1.0:0.0:0.0	.	835;835;817;856;856	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	C	817;856;856;792	ENSP00000353638:S817C;ENSP00000377855:S856C;ENSP00000312649:S856C;ENSP00000384403:S792C	ENSP00000312649:S856C	S	+	2	0	PPARGC1B	149196778	0.997000	0.39634	0.975000	0.42487	0.977000	0.68977	3.862000	0.56009	2.747000	0.94245	0.462000	0.41574	TCT		0.637	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	0	NM_133263		5:149216585
CAPN5	726	broad.mit.edu	37	11	76833726	76833726	+	Missense_Mutation	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:76833726C>T	ENST00000278559.3	+	12	1897	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.R610C|CAPN5_ENST00000529629.1_Missense_Mutation_p.R570C	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	570	C2.				proteolysis (GO:0006508)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CATCTTCTACCGCAAGAAGCT	0.567																																						ENST00000278559.3		NA																	0				NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						c.(1708-1710)Cgc>Tgc		calpain 5							127.0	111.0	116.0					11																	76833726		2200	4292	6492	SO:0001583	missense	726				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity	g.chr11:76833726C>T		CCDS8248.1	11q14	2014-01-29				ENSG00000149260			1482	protein-coding gene	gene with protein product		602537	"""vitreoretinopathy, neovascular inflammatory"""	VRNI		9503024, 9367857, 23055945	Standard	NM_004055		Approved	nCL-3, HTRA3, ADNIV	uc001oxx.3	O15484		ENST00000278559.3:c.1708C>T	11.37:g.76833726C>T	ENSP00000278559:p.Arg570Cys	False	False		Somatic	0				CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000456580.2_Missense_Mutation_p.R610C|CAPN5_ENST00000529629.1_Missense_Mutation_p.R570C	p.R570C	NM_004055.4	NP_004046.2	WXS	Illumina HiSeq	Phase_I	O15484	CAN5_HUMAN			12	1897	+			570			C2.		O00263	Missense_Mutation	SNP	ENST00000278559.3	37	c.1708C>T	CCDS8248.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988182	0.74589	.	.	ENSG00000149260	ENST00000278559;ENST00000360841;ENST00000529629;ENST00000456580	T;T;T	0.71103	-0.54;-0.54;-0.54	4.93	4.93	0.64822	C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.050653	0.85682	D	0.000000	T	0.81074	0.4747	M	0.62016	1.91	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;0.996;0.995;1.0	T	0.82692	-0.0331	10	0.87932	D	0	.	12.5828	0.56399	0.1658:0.8341:0.0:0.0	.	608;610;610;570	Q59GM2;E7EV01;Q6ZRM8;O15484	.;.;.;CAN5_HUMAN	C	570;610;570;610	ENSP00000278559:R570C;ENSP00000432332:R570C;ENSP00000409996:R610C	ENSP00000278559:R570C	R	+	1	0	CAPN5	76511374	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	2.941000	0.49011	2.428000	0.82296	0.655000	0.94253	CGC		0.567	CAPN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382564.2	0	NM_004055		11:76833726
ARHGAP21	57584	broad.mit.edu	37	10	24908567	24908567	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr10:24908567G>A	ENST00000396432.2	-	9	2743	c.2257C>T	c.(2257-2259)Cat>Tat	p.H753Y	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H540Y	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	752					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TAAGACTGATGCCTTAAAGGC	0.473																																						ENST00000396432.2		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						c.(2257-2259)Cat>Tat		Rho GTPase activating protein 21							108.0	105.0	106.0					10																	24908567		2203	4300	6503	SO:0001583	missense	57584				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding	g.chr10:24908567G>A	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.2257C>T	10.37:g.24908567G>A	ENSP00000379709:p.His753Tyr	False	False		Somatic	0				ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H540Y	p.H753Y	NM_020824.3	NP_065875.3	WXS	Illumina HiSeq	Phase_I	Q5T5U3	RHG21_HUMAN			9	2743	-			752					Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000396432.2	37	c.2257C>T	CCDS7144.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307576	0.81247	.	.	ENSG00000107863	ENST00000396432;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	5.1	5.1	0.69264	.	0.162808	0.53938	D	0.000044	T	0.64560	0.2609	M	0.70595	2.14	0.42876	D	0.994156	D;D	0.64830	0.989;0.994	P;P	0.57152	0.814;0.656	T	0.67925	-0.5544	10	0.54805	T	0.06	.	18.8879	0.92387	0.0:0.0:1.0:0.0	.	743;752	F8W9U9;Q5T5U3	.;RHG21_HUMAN	Y	753;540;743;753;588	ENSP00000379709:H753Y;ENSP00000365604:H540Y;ENSP00000365592:H743Y;ENSP00000405018:H753Y	ENSP00000365604:H540Y	H	-	1	0	ARHGAP21	24948573	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.340000	0.97038	2.509000	0.84616	0.655000	0.94253	CAT		0.473	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047229.4	0	NM_020824		10:24908567
UBASH3B	84959	broad.mit.edu	37	11	122667631	122667631	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:122667631G>A	ENST00000284273.5	+	9	1622	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	416	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CGCTACATACGCACCAACCTG	0.473																																						ENST00000284273.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(1246-1248)cGc>cAc		ubiquitin associated and SH3 domain containing B							169.0	135.0	146.0					11																	122667631		2202	4299	6501	SO:0001583	missense	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122667631G>A	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1247G>A	11.37:g.122667631G>A	ENSP00000284273:p.Arg416His	False	False		Somatic	0					p.R416H	NM_032873.4	NP_116262.2	WXS	Illumina HiSeq	Phase_I	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	9	1622	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	416			Protein tyrosine phosphatase (By similarity).		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	c.1247G>A	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881504	0.91740	.	.	ENSG00000154127	ENST00000284273	T	0.07567	3.18	6.05	5.14	0.70334	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.85682	D	0.000000	T	0.31702	0.0805	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.10660	-1.0620	10	0.72032	D	0.01	-25.6525	15.3314	0.74215	0.0666:0.0:0.9334:0.0	.	416	Q8TF42	UBS3B_HUMAN	H	416	ENSP00000284273:R416H	ENSP00000284273:R416H	R	+	2	0	UBASH3B	122172841	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.368000	0.97152	1.577000	0.49804	0.650000	0.86243	CGC		0.473	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	0	NM_032873		11:122667631
MFSD7	84179	broad.mit.edu	37	4	678335	678335	+	Missense_Mutation	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr4:678335G>C	ENST00000404286.2	-	6	795	c.780C>G	c.(778-780)atC>atG	p.I260M	MFSD7_ENST00000503156.1_Missense_Mutation_p.I195M|MFSD7_ENST00000513740.1_5'Flank|MFSD7_ENST00000515118.1_Missense_Mutation_p.I163M|MFSD7_ENST00000322224.4_Missense_Mutation_p.I259M|MFSD7_ENST00000347950.5_Missense_Mutation_p.I141M	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	260					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CAGAGATCCCGATCATTCCCC	0.642											OREG0016025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000322224.4		NA																	0				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						c.(775-777)atC>atG		major facilitator superfamily domain containing 7							99.0	100.0	100.0					4																	678335		2203	4300	6503	SO:0001583	missense	84179				transmembrane transport	integral to membrane		g.chr4:678335G>C	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.780C>G	4.37:g.678335G>C	ENSP00000384616:p.Ile260Met	True	False		Somatic	0	OREG0016025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	590	MFSD7_ENST00000347950.5_Missense_Mutation_p.I141M|MFSD7_ENST00000503156.1_Missense_Mutation_p.I195M|MFSD7_ENST00000404286.2_Missense_Mutation_p.I260M|MFSD7_ENST00000515118.1_Missense_Mutation_p.I163M	p.I259M			WXS	Illumina HiSeq	Phase_I	Q6UXD7	MFSD7_HUMAN			6	1090	-			260					A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Missense_Mutation	SNP	ENST00000404286.2	37	c.777C>G		.	.	.	.	.	.	.	.	.	.	G	9.541	1.113390	0.20795	.	.	ENSG00000169026	ENST00000347950;ENST00000322224;ENST00000404286;ENST00000515118;ENST00000503156;ENST00000507165	T;T;T;T;T;T	0.58358	0.34;0.45;0.45;0.34;0.45;0.45	4.73	-6.09	0.02145	Major facilitator superfamily domain, general substrate transporter (1);	0.365001	0.28011	N	0.016960	T	0.53334	0.1790	L	0.55103	1.725	0.09310	N	1	D;D;D;P;D	0.58970	0.98;0.984;0.968;0.906;0.975	P;P;P;P;P	0.59171	0.853;0.777;0.841;0.77;0.639	T	0.55147	-0.8186	10	0.42905	T	0.14	-14.7166	9.9496	0.41631	0.7043:0.1275:0.1682:0.0	.	195;163;141;260;259	D6RIZ6;D6R9R0;Q6UXD7-3;Q6UXD7;Q6UXD7-2	.;.;.;MFSD7_HUMAN;.	M	141;259;260;163;195;196	ENSP00000307545:I141M;ENSP00000320234:I259M;ENSP00000384616:I260M;ENSP00000423204:I163M;ENSP00000425753:I195M;ENSP00000424556:I196M	ENSP00000320234:I259M	I	-	3	3	MFSD7	668335	0.041000	0.20044	0.000000	0.03702	0.002000	0.02628	-0.702000	0.05069	-1.401000	0.02058	0.460000	0.39030	ATC		0.642	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1	0	NM_032219		4:678335
RNF111	54778	broad.mit.edu	37	15	59359283	59359283	+	Splice_Site	SNP	G	G	C			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr15:59359283G>C	ENST00000557998.1	+	6	1973		c.e6+1		RNF111_ENST00000559209.1_Splice_Site|RNF111_ENST00000561186.1_Splice_Site|RNF111_ENST00000348370.4_Splice_Site|RNF111_ENST00000434298.1_Splice_Site	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111						gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TCATGAACAGGTATGTGGAAT	0.468																																					NSCLC(72;983 1365 10746 34387 47081)	ENST00000348370.4		NA																	0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.e6+1		ring finger protein 111							95.0	87.0	90.0					15																	59359283		2192	4291	6483	SO:0001630	splice_region_variant	54778				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:59359283G>C	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.1686+1G>C	15.37:g.59359283G>C		False	False		Somatic	0				RNF111_ENST00000561186.1_Splice_Site|RNF111_ENST00000557998.1_Splice_Site|RNF111_ENST00000434298.1_Splice_Site|RNF111_ENST00000559209.1_Splice_Site		NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	WXS	Illumina HiSeq	Phase_I	Q6ZNA4	RN111_HUMAN		all cancers(107;0.194)	6	2119	+			NA					C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Splice_Site	SNP	ENST00000557998.1	37		CCDS58366.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008992	0.75046	.	.	ENSG00000157450	ENST00000348370;ENST00000434298	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5984	0.88018	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF111	57146575	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.279000	0.89901	2.398000	0.81561	0.462000	0.41574	.		0.468	RNF111-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000416012.1	0	NM_017610	Intron	15:59359283
ZNF746	155061	broad.mit.edu	37	7	149171720	149171720	+	Missense_Mutation	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr7:149171720G>A	ENST00000340622.3	-	7	1970	c.1690C>T	c.(1690-1692)Cgg>Tgg	p.R564W	ZNF746_ENST00000458143.2_Missense_Mutation_p.R565W			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	564					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GTGAAGGGCCGCACGCCCGTG	0.672																																						ENST00000340622.3		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1690-1692)Cgg>Tgg		zinc finger protein 746							51.0	38.0	42.0					7																	149171720		2202	4300	6502	SO:0001583	missense	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149171720G>A	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1690C>T	7.37:g.149171720G>A	ENSP00000345140:p.Arg564Trp	False	False		Somatic	0				ZNF746_ENST00000458143.2_Missense_Mutation_p.R565W	p.R564W			WXS	Illumina HiSeq	Phase_I	Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		7	1970	-	Melanoma(164;0.165)		564					A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	c.1690C>T	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.654521	0.67472	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.15139	2.45;2.45	5.58	4.67	0.58626	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46758	D	0.000277	T	0.43010	0.1228	M	0.84082	2.675	0.36220	D	0.851953	D;D	0.89917	1.0;1.0	D;D	0.78314	0.917;0.991	T	0.55891	-0.8069	10	0.87932	D	0	-24.6663	11.729	0.51726	0.0:0.0:0.6974:0.3026	.	565;564	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	W	564;565	ENSP00000345140:R564W;ENSP00000395007:R565W	ENSP00000345140:R564W	R	-	1	2	ZNF746	148802653	0.497000	0.26067	1.000000	0.80357	0.991000	0.79684	0.576000	0.23744	2.630000	0.89119	0.462000	0.41574	CGG		0.672	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	0	NM_152557		7:149171720
SLC25A53	401612	broad.mit.edu	37	X	103349565	103349565	+	Missense_Mutation	SNP	C	C	T	rs112530678	byFrequency	TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chrX:103349565C>T	ENST00000357421.4	-	2	556	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	126					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											GCCTCCACCACGCCAGACATG	0.582																																						ENST00000357421.4		NA																	0					NA						c.(376-378)Gtg>Atg		solute carrier family 25, member 53		G	MET/VAL	0,3835		0,0,0,1632,571	72.0	76.0	75.0		376	2.4	1.0	X	dbSNP_132	75	1,6727		0,0,1,2428,1871	no	missense	MCART6	NM_001012755.3	21	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	benign	126/308	103349565	1,10562	2203	4300	6503	SO:0001583	missense	401612				transport	integral to membrane|mitochondrial inner membrane		g.chrX:103349565C>T		CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.376G>A	X.37:g.103349565C>T	ENSP00000361681:p.Val126Met	False	False		Somatic	0					p.V126M	NM_001012755.3	NP_001012773.2	WXS	Illumina HiSeq	Phase_I	Q5H9E4	MCAR6_HUMAN			2	556	-			126					B2RTT9	Missense_Mutation	SNP	ENST00000357421.4	37	c.376G>A	CCDS35363.1	.	.	.	.	.	.	.	.	.	.	t	11.65	1.702148	0.30232	0.0	1.49E-4	ENSG00000176274	ENST00000357421	T	0.79247	-1.25	4.18	2.39	0.29439	Mitochondrial carrier domain (2);	0.332828	0.27773	N	0.017902	T	0.66790	0.2825	L	0.48935	1.535	0.24669	N	0.993427	P	0.42993	0.797	B	0.40101	0.319	T	0.57757	-0.7756	10	0.36615	T	0.2	-49.9526	6.5896	0.22639	0.0:0.7041:0.185:0.1109	.	126	Q5H9E4	MCAR6_HUMAN	M	126	ENSP00000361681:V126M	ENSP00000361681:V126M	V	-	1	0	MCART6	103236221	0.001000	0.12720	1.000000	0.80357	0.987000	0.75469	0.066000	0.14489	0.906000	0.36621	-0.178000	0.13098	GTG		0.582	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057761.1	0	NM_001012755		X:103349565
LAMB3	3914	broad.mit.edu	37	1	209799171	209799171	+	Missense_Mutation	SNP	C	C	G	rs35794952		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr1:209799171C>G	ENST00000356082.4	-	14	1932	c.1798G>C	c.(1798-1800)Ggt>Cgt	p.G600R	LAMB3_ENST00000367030.3_Missense_Mutation_p.G600R|LAMB3_ENST00000391911.1_Missense_Mutation_p.G600R|MIR4260_ENST00000583107.1_RNA	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	600	Domain II.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CGGAGTCTACCAAAGCGCAGG	0.632																																						ENST00000391911.1		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1798-1800)Ggt>Cgt		laminin, beta 3							40.0	40.0	40.0					1																	209799171		2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209799171C>G	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.1798G>C	1.37:g.209799171C>G	ENSP00000348384:p.Gly600Arg	True	False		Somatic	0				LAMB3_ENST00000367030.3_Missense_Mutation_p.G600R|LAMB3_ENST00000356082.4_Missense_Mutation_p.G600R	p.G600R	NM_001017402.1	NP_001017402.1	WXS	Illumina HiSeq	Phase_I	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	13	2187	-			600			Domain II.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.1798G>C	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	C	3.231	-0.157369	0.06544	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.34667	1.35;1.35;1.35	5.14	-3.05	0.05396	.	1.305210	0.04711	N	0.417607	T	0.17408	0.0418	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23297	-1.0192	10	0.14656	T	0.56	.	8.4291	0.32746	0.0:0.4658:0.1106:0.4235	.	600	Q13751	LAMB3_HUMAN	R	600	ENSP00000375778:G600R;ENSP00000348384:G600R;ENSP00000355997:G600R	ENSP00000348384:G600R	G	-	1	0	LAMB3	207865794	0.000000	0.05858	0.000000	0.03702	0.378000	0.30076	-1.769000	0.01792	-0.858000	0.04110	0.456000	0.33151	GGT		0.632	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	0	NM_000228		1:209799171
DEFB135	613209	broad.mit.edu	37	8	11841997	11841997	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:11841997C>T	ENST00000382208.2	+	2	132	c.132C>T	c.(130-132)tgC>tgT	p.C44C		NM_001033017.2	NP_001028189.2	Q30KP9	DB135_HUMAN	defensin, beta 135	44					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(2)|prostate(1)	4						AAGGTACTTGCCGGCCAAAAT	0.373																																						ENST00000382208.2		NA																	0				endometrium(1)|large_intestine(2)|prostate(1)	4						c.(130-132)tgC>tgT		defensin, beta 135							101.0	99.0	99.0					8																	11841997		1879	4107	5986	SO:0001819	synonymous_variant	613209				defense response to bacterium	extracellular region		g.chr8:11841997C>T	DQ012025	CCDS43710.1	8p23.1	2009-05-27			ENSG00000205883	ENSG00000205883		"""Defensins, beta"""	32400	protein-coding gene	gene with protein product						16033865	Standard	NM_001033017		Approved		uc003wuw.1	Q30KP9	OTTHUMG00000158719	ENST00000382208.2:c.132C>T	8.37:g.11841997C>T		False	False		Somatic	0					p.C44C	NM_001033017.2	NP_001028189.2	WXS	Illumina HiSeq	Phase_I	Q30KP9	DB135_HUMAN			2	132	+			44					Q4QY37	Silent	SNP	ENST00000382208.2	37	c.132C>T	CCDS43710.1																																																																																				0.373	DEFB135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351888.1	0	NM_001033017		8:11841997
TRAIP	10293	broad.mit.edu	37	3	49867474	49867474	+	Silent	SNP	C	C	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr3:49867474C>T	ENST00000331456.2	-	12	1178	c.1065G>A	c.(1063-1065)aaG>aaA	p.K355K	TRAIP_ENST00000469027.1_Silent_p.K200K	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	355	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTTGCATATCTTCTTGGGGA	0.532																																						ENST00000331456.2		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(1063-1065)aaG>aaA		TRAF interacting protein							140.0	127.0	132.0					3																	49867474		2203	4300	6503	SO:0001819	synonymous_variant	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49867474C>T	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.1065G>A	3.37:g.49867474C>T		False	False		Somatic	0				TRAIP_ENST00000469027.1_Silent_p.K200K	p.K355K	NM_005879.2	NP_005870.2	WXS	Illumina HiSeq	Phase_I	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	12	1178	-			355			Interaction with CYLD.		B5BU84|B5BUL3|O00467	Silent	SNP	ENST00000331456.2	37	c.1065G>A	CCDS2806.1																																																																																				0.532	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	0	NM_005879		3:49867474
KRTAP10-9	386676	broad.mit.edu	37	21	46047922	46047922	+	Silent	SNP	C	C	T	rs587735240		TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr21:46047922C>T	ENST00000397911.3	+	1	883	c.834C>T	c.(832-834)cgC>cgT	p.R278R	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	278						keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TGTGCTCCCGCCCGGCCTGCT	0.692													C|||	1	0.000199681	0.0	0.0	5008	,	,		17931	0.0		0.0	False		,,,				2504	0.001					ENST00000397911.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(832-834)cgC>cgT		keratin associated protein 10-9							61.0	75.0	70.0					21																	46047922		2193	4288	6481	SO:0001819	synonymous_variant	386676					keratin filament		g.chr21:46047922C>T	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.834C>T	21.37:g.46047922C>T		True	False		Somatic	0				KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	p.R278R	NM_198690.2	NP_941963.2	WXS	Illumina HiSeq	Phase_I	P60411	KR109_HUMAN			1	883	+			278					A2RRG1|A6NIR9|Q70LJ1	Silent	SNP	ENST00000397911.3	37	c.834C>T	CCDS42961.1																																																																																				0.692	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1	0			21:46047922
KMT2B	9757	broad.mit.edu	37	19	36220898	36220898	+	Missense_Mutation	SNP	A	A	G			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr19:36220898A>G	ENST00000222270.7	+	23	4948	c.4948A>G	c.(4948-4950)Acg>Gcg	p.T1650A	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.T1650A	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1650					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCCTGGCGCCACGGTGGGCTG	0.642																																						ENST00000222270.7		NA																	0					NA						c.(4948-4950)Acg>Gcg									30.0	32.0	31.0					19																	36220898		2122	4231	6353	SO:0001583	missense	0							g.chr19:36220898A>G	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4948A>G	19.37:g.36220898A>G	ENSP00000222270:p.Thr1650Ala	False	False		Somatic	0				WBP7_ENST00000420124.1_Missense_Mutation_p.T1650A|KMT2B_ENST00000607650.1_RNA	p.T1650A	NM_014727.1	NP_055542.1	WXS	Illumina HiSeq	Phase_I					23	4948	+			NA					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.4948A>G	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	A	16.25	3.068919	0.55539	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	T;T	0.71103	-0.54;-0.54	5.23	5.23	0.72850	Zinc finger, PHD-type (1);	0.000000	0.46145	D	0.000306	T	0.81758	0.4890	M	0.61703	1.905	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.83762	0.0215	10	0.87932	D	0	.	14.2408	0.65956	1.0:0.0:0.0:0.0	.	1650	Q9UMN6	MLL4_HUMAN	A	1650	ENSP00000222270:T1650A;ENSP00000398837:T1650A	ENSP00000222270:T1650A	T	+	1	0	AD000671.1	40912738	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	9.039000	0.93777	2.200000	0.70718	0.459000	0.35465	ACG		0.642	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_014727		19:36220898
POP1	10940	broad.mit.edu	37	8	99170241	99170241	+	Silent	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr8:99170241G>T	ENST00000401707.2	+	16	2898	c.2817G>T	c.(2815-2817)ggG>ggT	p.G939G	POP1_ENST00000349693.3_Silent_p.G939G	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	939					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA 5'-leader removal (GO:0001682)|tRNA catabolic process (GO:0016078)	extracellular space (GO:0005615)|nucleolar ribonuclease P complex (GO:0005655)|ribonuclease MRP complex (GO:0000172)	poly(A) RNA binding (GO:0044822)|ribonuclease MRP activity (GO:0000171)|ribonuclease P activity (GO:0004526)			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CCGTGGCTGGGCAGGAAGCTC	0.572																																						ENST00000401707.2		NA																	0				autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(2815-2817)ggG>ggT		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)							84.0	95.0	91.0					8																	99170241		2203	4300	6503	SO:0001819	synonymous_variant	10940				tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	g.chr8:99170241G>T	D31765	CCDS6277.1	8q22.2	2012-05-21			ENSG00000104356	ENSG00000104356			30129	protein-coding gene	gene with protein product	"""processing of precursors 1"""	602486				10199568, 8918471	Standard	NM_015029		Approved		uc011lgv.2	Q99575	OTTHUMG00000164635	ENST00000401707.2:c.2817G>T	8.37:g.99170241G>T		True	False		Somatic	0				POP1_ENST00000349693.3_Silent_p.G939G	p.G939G	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	WXS	Illumina HiSeq	Phase_I	Q99575	POP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.145)		16	2898	+	Breast(36;1.78e-06)		939					A8K5W9|Q15037	Silent	SNP	ENST00000401707.2	37	c.2817G>T	CCDS6277.1																																																																																				0.572	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	0	NM_015029		8:99170241
CACNG2	10369	broad.mit.edu	37	22	36962506	36962506	+	Silent	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr22:36962506C>A	ENST00000300105.6	-	3	1311	c.330G>T	c.(328-330)ctG>ctT	p.L110L		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	110					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GAATCACACTCAGGATTGGGA	0.552																																						ENST00000300105.6		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(328-330)ctG>ctT		calcium channel, voltage-dependent, gamma subunit 2							90.0	82.0	85.0					22																	36962506		2203	4300	6503	SO:0001819	synonymous_variant	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:36962506C>A	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.330G>T	22.37:g.36962506C>A		False	False		Somatic	0					p.L110L	NM_006078.3	NP_006069.1	WXS	Illumina HiSeq	Phase_I	Q9Y698	CCG2_HUMAN			3	1311	-			110					Q2M1M1|Q5TGT3|Q9UGZ7	Silent	SNP	ENST00000300105.6	37	c.330G>T	CCDS13931.1																																																																																				0.552	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2	0			22:36962506
DPP10	57628	broad.mit.edu	37	2	116510788	116510788	+	Missense_Mutation	SNP	C	C	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:116510788C>A	ENST00000410059.1	+	11	1469	c.989C>A	c.(988-990)aCc>aAc	p.T330N	DPP10_ENST00000393147.2_Missense_Mutation_p.T334N|DPP10_ENST00000310323.8_Missense_Mutation_p.T323N|DPP10_ENST00000409163.1_Missense_Mutation_p.T280N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	330						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GTAAGCAATACCAAGACTGTG	0.363																																						ENST00000410059.1		NA																	0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(988-990)aCc>aAc		dipeptidyl-peptidase 10 (non-functional)							116.0	102.0	107.0					2																	116510788		2203	4300	6503	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116510788C>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.989C>A	2.37:g.116510788C>A	ENSP00000386565:p.Thr330Asn	False	False		Somatic	0				DPP10_ENST00000310323.8_Missense_Mutation_p.T323N|DPP10_ENST00000393147.2_Missense_Mutation_p.T334N|DPP10_ENST00000409163.1_Missense_Mutation_p.T280N	p.T330N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	WXS	Illumina HiSeq	Phase_I	Q8N608	DPP10_HUMAN			11	1469	+			330					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.989C>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.190021	0.78789	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	5.1	5.1	0.69264	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	L	0.46614	1.455	0.80722	D	1	P;D;D;P	0.76494	0.883;0.999;0.963;0.904	P;D;P;P	0.85130	0.61;0.997;0.73;0.73	T	0.27773	-1.0064	10	0.33940	T	0.23	-11.7935	17.6852	0.88255	0.0:1.0:0.0:0.0	.	323;334;326;330	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	330;280;334;323;280	ENSP00000386565:T330N;ENSP00000387038:T280N;ENSP00000376855:T334N;ENSP00000309066:T323N	ENSP00000309066:T323N	T	+	2	0	DPP10	116227258	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.299000	0.78831	2.660000	0.90430	0.650000	0.86243	ACC		0.363	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	0	NM_020868		2:116510788
SLC11A1	6556	broad.mit.edu	37	2	219251897	219251897	+	Missense_Mutation	SNP	G	G	T			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr2:219251897G>T	ENST00000233202.6	+	6	855	c.515G>T	c.(514-516)gGt>gTt	p.G172V	SLC11A1_ENST00000539932.1_Missense_Mutation_p.G54V	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	172					activation of protein kinase activity (GO:0032147)|antigen processing and presentation of peptide antigen (GO:0048002)|cadmium ion transmembrane transport (GO:0070574)|cellular cadmium ion homeostasis (GO:0006876)|cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|divalent metal ion export (GO:0070839)|inflammatory response (GO:0006954)|interaction with host (GO:0051701)|interleukin-2 production (GO:0032623)|interleukin-3 production (GO:0032632)|iron ion homeostasis (GO:0055072)|iron ion transport (GO:0006826)|L-arginine import (GO:0043091)|macrophage activation (GO:0042116)|manganese ion transport (GO:0006828)|MHC class II biosynthetic process (GO:0045342)|mRNA stabilization (GO:0048255)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cytokine production (GO:0001818)|nitrite transport (GO:0015707)|phagocytosis (GO:0006909)|phagosome maturation (GO:0090382)|positive regulation of cytokine production (GO:0001819)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of gene expression (GO:0010628)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein import into nucleus, translocation (GO:0000060)|respiratory burst (GO:0045730)|response to bacterium (GO:0009617)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|T cell cytokine production (GO:0002369)|T cell proliferation involved in immune response (GO:0002309)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|wound healing (GO:0042060)	cell outer membrane (GO:0009279)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|tertiary granule membrane (GO:0070821)	manganese ion transmembrane transporter activity (GO:0005384)|metal ion:proton antiporter activity (GO:0051139)|protein homodimerization activity (GO:0042803)|transition metal ion transmembrane transporter activity (GO:0046915)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACTCTGGGGTGGCGTCCTC	0.602																																						ENST00000233202.6		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(514-516)gGt>gTt		solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1							112.0	97.0	102.0					2																	219251897		2203	4300	6503	SO:0001583	missense	6556				activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity	g.chr2:219251897G>T	D38171	CCDS2415.1	2q35	2013-07-18	2013-07-18		ENSG00000018280	ENSG00000018280		"""Solute carriers"""	10907	protein-coding gene	gene with protein product	"""natural resistance-associated macrophage protein 1"""	600266		LSH, NRAMP, NRAMP1		7964458, 7980580	Standard	NM_000578		Approved		uc002vhv.3	P49279	OTTHUMG00000086747	ENST00000233202.6:c.515G>T	2.37:g.219251897G>T	ENSP00000233202:p.Gly172Val	True	False		Somatic	0				SLC11A1_ENST00000539932.1_Missense_Mutation_p.G54V	p.G172V	NM_000578.3	NP_000569.3	WXS	Illumina HiSeq	Phase_I	P49279	NRAM1_HUMAN		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	855	+		Renal(207;0.0474)	172					C0H5Y3	Missense_Mutation	SNP	ENST00000233202.6	37	c.515G>T	CCDS2415.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765423	0.49574	.	.	ENSG00000018280	ENST00000233202;ENST00000539932	T;T	0.66280	-0.2;-0.2	5.18	4.29	0.51040	.	0.066829	0.64402	D	0.000008	T	0.62307	0.2417	L	0.35341	1.055	0.80722	D	1	B;B;B	0.33739	0.016;0.422;0.422	B;P;B	0.46452	0.017;0.517;0.363	T	0.62774	-0.6783	10	0.41790	T	0.15	-6.105	14.3044	0.66375	0.0723:0.0:0.9277:0.0	.	172;54;172	B4DQ73;C0H5Y3;P49279	.;.;NRAM1_HUMAN	V	172;54	ENSP00000233202:G172V;ENSP00000443435:G54V	ENSP00000233202:G172V	G	+	2	0	SLC11A1	218960141	0.998000	0.40836	0.883000	0.34634	0.757000	0.42996	2.602000	0.46257	1.380000	0.46344	0.655000	0.94253	GGT		0.602	SLC11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195076.2	0	NM_000578		2:219251897
SMTNL1	219537	broad.mit.edu	37	11	57311123	57311123	+	Silent	SNP	G	G	A			TCGA-3A-A9I9-01A-11D-A38G-08	TCGA-3A-A9I9-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	a00e940f-6021-454d-be90-a2fdebd8751d	6bf66319-97e4-4169-887d-b861913257f1	g.chr11:57311123G>A	ENST00000399154.2	+	3	648	c.648G>A	c.(646-648)caG>caA	p.Q216Q	SMTNL1_ENST00000457912.1_Silent_p.Q271Q|SMTNL1_ENST00000527972.1_Silent_p.Q253Q			A8MU46	SMTL1_HUMAN	smoothelin-like 1	216	Glu-rich.				negative regulation of vasodilation (GO:0045908)|positive regulation of vasoconstriction (GO:0045907)	contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						GCGAAGAGCAGGAGCAGGACG	0.607																																						ENST00000457912.1		NA																	0				endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						c.(811-813)caG>caA		smoothelin-like 1							19.0	22.0	21.0					11																	57311123		2042	4200	6242	SO:0001819	synonymous_variant	219537							g.chr11:57311123G>A	BX116227		11q12.1	2006-02-02				ENSG00000214872			32394	protein-coding gene	gene with protein product	"""calponin homology-associated smooth muscle protein"""	613664				15327999	Standard	NM_001105565		Approved	CHASM	uc021qjh.1	A8MU46		ENST00000399154.2:c.648G>A	11.37:g.57311123G>A		True	False		Somatic	0				SMTNL1_ENST00000399154.2_Silent_p.Q216Q|SMTNL1_ENST00000527972.1_Silent_p.Q253Q	p.Q271Q			WXS	Illumina HiSeq	Phase_I	E9PPJ3	E9PPJ3_HUMAN			3	813	+			253						Silent	SNP	ENST00000399154.2	37	c.813G>A																																																																																					0.607	SMTNL1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	XM_166203		11:57311123
