#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-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	-	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	ENST00000377828.1	+	7	1454_1516	c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	c.(1285-1350)acacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgccccca>aca	p.PPPPPPSFPPPPPPPGTQLPP430del	ESPN_ENST00000416731.1_5'Flank|ESPN_ENST00000461727.1_5'Flank|RP1-202O8.2_ENST00000419034.1_RNA	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
MS4A6A	64231	broad.mit.edu	37	11	59940598	59940599	+	Frame_Shift_Del	DEL	GT	GT	-	rs7232	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:59940598_59940599delGT	ENST00000530839.1	-	7	1045_1046	c.553_554delAC	c.(553-555)actfs	p.T185fs	MS4A6A_ENST00000412309.2_Frame_Shift_Del_p.T213fs|MS4A6A_ENST00000528851.1_Frame_Shift_Del_p.T185fs|MS4A6A_ENST00000420732.2_Frame_Shift_Del_p.N150fs|MS4A6A_ENST00000323961.3_Frame_Shift_Del_p.T185fs|MS4A6A_ENST00000529054.1_Frame_Shift_Del_p.T213fs|MS4A6A_ENST00000426738.2_Frame_Shift_Del_p.T140fs|MS4A6A_ENST00000533023.1_Frame_Shift_Del_p.N86fs	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	185			T -> S (in dbSNP:rs7232). {ECO:0000269|PubMed:11401424}.			integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGAGAGAGAGTTCCCTGAAAG	0.49																																						ENST00000533023.1		NA																	0				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	GRCh37	CM067701	MS4A6A	M	rs7232	c.(256-258)aacfs		membrane-spanning 4-domains, subfamily A, member 6A																																				SO:0001589	frameshift_variant	64231					integral to membrane	receptor activity	g.chr11:59940598_59940599delGT	AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.553_554delAC	11.37:g.59940598_59940599delGT	ENSP00000436979:p.Thr185fs	True	False		Somatic	1				MS4A6A_ENST00000528851.1_Frame_Shift_Del_p.T185fs|MS4A6A_ENST00000323961.3_Frame_Shift_Del_p.T185fs|MS4A6A_ENST00000529054.1_Frame_Shift_Del_p.T213fs|MS4A6A_ENST00000412309.2_Frame_Shift_Del_p.T213fs|MS4A6A_ENST00000420732.2_Frame_Shift_Del_p.N150fs|MS4A6A_ENST00000530839.1_Frame_Shift_Del_p.T185fs|MS4A6A_ENST00000426738.2_Frame_Shift_Del_p.T140fs	p.N86fs			WXS	Illumina HiSeq	Phase_I	Q9H2W1	M4A6A_HUMAN			4	324_325	-			0					A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Frame_Shift_Del	DEL	ENST00000530839.1	37	c.257_258delAC	CCDS7981.1																																																																																				0.490	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393848.1	0			11:59940598
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000396053.4_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000515838.2_3'UTR|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000578778.1_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
NBPF12	149013	broad.mit.edu	37	1	146459553	146459556	+	Frame_Shift_Del	DEL	GATA	GATA	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	GATA	GATA	-	-	GATA	GATA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:146459553_146459556delGATA	ENST00000442909.2	+	74	9630_9633	c.8794_8797delGATA	c.(8794-8799)gatagafs	p.DR2932fs	NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000537773.1_3'UTR|NBPF12_ENST00000446760.2_Intron|NBPF12_ENST00000446080.2_Intron			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	114						cytoplasm (GO:0005737)				ovary(2)	2						GGACTCACTGGATAGATGTTATTC	0.466																																						ENST00000442909.2		NA																	0				ovary(2)	2						c.(8794-8799)gatagafs		neuroblastoma breakpoint family, member 12																																				SO:0001589	frameshift_variant	149013							g.chr1:146459553_146459556delGATA	BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.8794_8797delGATA	1.37:g.146459553_146459556delGATA	ENSP00000391116:p.Asp2932fs	False	False		Somatic	1				NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Intron|NBPF12_ENST00000446080.2_Intron|NBPF12_ENST00000537773.1_3'UTR	p.DR2932fs			WXS	Illumina HiSeq	Phase_I					74	9630_9633	+			NA					O95877	Frame_Shift_Del	DEL	ENST00000442909.2	37	c.8794_8797delGATA																																																																																					0.466	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000102086.3	0	XM_003119146		1:146459553
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-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	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
IGHJ6	28475	broad.mit.edu	37	14	106329456	106329457	+	RNA	INS	-	-	CC	rs374757249|rs371435317		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:106329456_106329457insCC	ENST00000390560.2	-	0	11_12				IGHD7-27_ENST00000439842.1_RNA|IGHJ3_ENST00000463911.1_RNA|IGHJ1_ENST00000390565.1_RNA|IGHJ4_ENST00000461719.1_RNA|IGHJ2_ENST00000390564.2_RNA|IGHJ5_ENST00000488476.1_RNA					immunoglobulin heavy joining 6																		TCCATGTAGTAGTAGTAGTAGT	0.535																																						ENST00000390560.2		NA																	0					NA																																														0							g.chr14:106329456_106329457insCC	J00256		14q32.33	2012-02-08			ENSG00000211900	ENSG00000211900		"""Immunoglobulins / IGH locus"""	5540	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152455		14.37:g.106329456_106329457insCC		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	11_12	-			NA						RNA	INS	ENST00000390560.2	37																																																																																						0.535	IGHJ6-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_start_NF|cds_end_NF|basic|appris_principal	IG_J_gene	IG_J_gene	OTTHUMT00000326277.1	0	NG_001019		14:106329456
DPH1	1801	broad.mit.edu	37	17	1940178	1940179	+	Frame_Shift_Ins	INS	-	-	CAAGC			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:1940178_1940179insCAAGC	ENST00000263083.6	+	6	668_669	c.623_624insCAAGC	c.(622-627)tgcaagfs	p.-210fs	DPH1_ENST00000576891.2_3'UTR|DPH1_ENST00000570477.1_Frame_Shift_Ins_p.-130fs	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1						cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GTCCCACAGTGCAAGCCCCTGT	0.599																																						ENST00000263083.6		NA																	0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.(622-627)tgcaagfs		diphthamide biosynthesis 1																																				SO:0001589	frameshift_variant	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1940178_1940179insCAAGC	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.624_628dupCAAGC	17.37:g.1940179_1940183dupCAAGC	ENSP00000263083:p.Pro210fs	False	False		Somatic	1				DPH1_ENST00000576891.2_3'UTR|DPH1_ENST00000570477.1_Frame_Shift_Ins_p.-130fs	p.-210fs	NM_001383.3	NP_001374.3	WXS	Illumina HiSeq	Phase_I	Q9BZG8	DPH1_HUMAN			6	668_669	+			NA					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Frame_Shift_Ins	INS	ENST00000263083.6	37	c.623_624insCAAGC	CCDS42228.1																																																																																				0.599	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	0	NM_001383		17:1940178
VAMP7	6845	broad.mit.edu	37	X	155169433	155169435	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	TAT	TAT	-	-	TAT	TAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chrX:155169433_155169435delTAT	ENST00000286448.6	+	7	735_737	c.570_572delTAT	c.(568-573)actatt>act	p.I195del	VAMP7_ENST00000460621.1_In_Frame_Del_p.I154del|VAMP7_ENST00000262640.6_In_Frame_Del_p.Y169del|VAMP7_ENST00000479687.1_3'UTR	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	195					calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)				large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCAAGCTCACTATTATCATCATC	0.355																																						ENST00000286448.6		NA																	0				large_intestine(1)|lung(8)	9						c.(568-573)actatt>act		vesicle-associated membrane protein 7																																				SO:0001651	inframe_deletion	6845				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding	g.chrX:155169433_155169435delTAT	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"""Pseudoautosomal regions / PAR2"", ""Vesicle-associated membrane proteins"""	11486	protein-coding gene	gene with protein product		300053	"""synaptobrevin-like 1"""	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.570_572delTAT	X.37:g.155169436_155169438delTAT	ENSP00000286448:p.Ile195del	False	False		Somatic	2				VAMP7_ENST00000479687.1_3'UTR|VAMP7_ENST00000460621.1_In_Frame_Del_p.I154del|VAMP7_ENST00000262640.6_In_Frame_Del_p.Y169del	p.I195del	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	WXS	Illumina HiSeq	Phase_I	P51809	VAMP7_HUMAN			7	735_737	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		195					Q53GY7|Q7Z409|Q9H4A7	In_Frame_Del	DEL	ENST00000286448.6	37	c.570_572delTAT	CCDS14770.4																																																																																				0.355	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058843.1	0	NM_005638		X:155169433
ANKRD36	375248	broad.mit.edu	37	2	97847365	97847368	+	Splice_Site	DEL	TAAT	TAAT	-	rs375413411		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	TAAT	TAAT	-	-	TAAT	TAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:97847365_97847368delTAAT	ENST00000461153.2	+	25	2008		c.e25+2		ANKRD36_ENST00000420699.2_Splice_Site			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36											endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGAGAAGGTAATTAAAGTCTCA	0.314																																						ENST00000461153.2		NA																	0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e25+2		ankyrin repeat domain 36																																				SO:0001630	splice_region_variant	375248							g.chr2:97847365_97847368delTAAT	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1764+2TAAT>-	2.37:g.97847365_97847368delTAAT		False	False		Somatic	1				ANKRD36_ENST00000420699.2_Splice_Site				WXS	Illumina HiSeq	Phase_I	A6QL64	AN36A_HUMAN			25	2008	+			NA					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Splice_Site	DEL	ENST00000461153.2	37		CCDS54379.1																																																																																				0.314	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5	0		Intron	2:97847365
ESPNP	284729	broad.mit.edu	37	1	17029302	17029364	+	RNA	DEL	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	-	rs544457949		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	-	-	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:17029302_17029364delGGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	ENST00000492551.1	-	0	1001_1063					NR_026567.1				espin pseudogene																		TGGGTAGCTAggtgggggtgggggcagttgggtgcctgggggcgggggtggcggggggaagctgggtgggggtggtgggggta	0.627																																						ENST00000492551.1		NA																	0					NA																																														0							g.chr1:17029302_17029364delGGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17029302_17029364delGGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT		True	False		Somatic	1						NR_026567.1		WXS	Illumina HiSeq	Phase_I					0	1001_1063	-			NA						RNA	DEL	ENST00000492551.1	37																																																																																						0.627	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1	0			1:17029302
CASP10	843	broad.mit.edu	37	2	202057794	202057795	+	Frame_Shift_Ins	INS	-	-	ATTATCTTCATCTA			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:202057794_202057795insATTATCTTCATCTA	ENST00000272879.5	+	4	713_714	c.529_530insATTATCTTCATCTA	c.(529-531)gttfs	p.V177fs	CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000360132.3_Frame_Shift_Ins_p.V177fs|CASP10_ENST00000448480.1_Frame_Shift_Ins_p.V177fs|CASP10_ENST00000346817.5_Frame_Shift_Ins_p.V177fs|CASP10_ENST00000313728.7_Frame_Shift_Ins_p.V177fs|CASP10_ENST00000374650.3_Frame_Shift_Ins_p.V177fs|CASP10_ENST00000286186.6_Frame_Shift_Ins_p.V177fs	NM_032974.4	NP_116756.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	177	DED 2. {ECO:0000255|PROSITE- ProRule:PRU00065}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|innate immune response (GO:0045087)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of apoptotic process (GO:0042981)	CD95 death-inducing signaling complex (GO:0031265)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|death effector domain binding (GO:0035877)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						CTGCAAAACAGTTGTACCTAAA	0.381																																						ENST00000286186.6		NA																	0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						c.(529-531)gttfs		caspase 10, apoptosis-related cysteine peptidase																																				SO:0001589	frameshift_variant	843				apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding	g.chr2:202057794_202057795insATTATCTTCATCTA	U60519	CCDS2338.1, CCDS2339.1, CCDS2340.1, CCDS56159.1, CCDS56160.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000003400	ENSG00000003400	3.4.22.63	"""Caspases"""	1500	protein-coding gene	gene with protein product		601762	"""caspase 10, apoptosis-related cysteine protease"""			8755496	Standard	NM_032974		Approved	MCH4	uc002uxj.1	Q92851	OTTHUMG00000132818	Exception_encountered	2.37:g.202057794_202057795insATTATCTTCATCTA	ENSP00000272879:p.Val177fs	False	False		Somatic	0				CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000346817.5_Frame_Shift_Ins_p.V177fs|CASP10_ENST00000448480.1_Frame_Shift_Ins_p.V177fs|CASP10_ENST00000272879.5_Frame_Shift_Ins_p.V177fs|CASP10_ENST00000360132.3_Frame_Shift_Ins_p.V177fs|CASP10_ENST00000313728.7_Frame_Shift_Ins_p.V177fs|CASP10_ENST00000374650.3_Frame_Shift_Ins_p.V177fs	p.V177fs	NM_032977.3	NP_116759.2	WXS	Illumina HiSeq	Phase_I	Q92851	CASPA_HUMAN			4	964_965	+			177			DED 2.		Q68HC0|Q6KF62|Q6KF63|Q8IUP5|Q8WYQ8|Q99845|Q9Y2U6|Q9Y2U7	Frame_Shift_Ins	INS	ENST00000272879.5	37	c.529_530insATTATCTTCATCTA	CCDS2338.1																																																																																				0.381	CASP10-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256273.1	0	NM_032977		2:202057794
GIGYF2	26058	broad.mit.edu	37	2	233708804	233708806	+	In_Frame_Del	DEL	CAA	CAA	-	rs3816334	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:233708804_233708806delCAA	ENST00000409547.1	+	26	3249_3251	c.2938_2940delCAA	c.(2938-2940)caadel	p.Q984del	GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	984	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagcagcagcaacagcaacagc	0.483																																						ENST00000409547.1		NA																	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2938-2940)caadel		GRB10 interacting GYF protein 2																																				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233708804_233708806delCAA	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2938_2940delCAA	2.37:g.233708804_233708806delCAA	ENSP00000386537:p.Gln984del	True	False		Somatic	1				GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del	p.Q984del	NM_015575.3	NP_056390.2	WXS	Illumina HiSeq	Phase_I	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	26	3249_3251	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	984			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.2938_2940delCAA	CCDS33401.1																																																																																				0.483	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	0	NM_001103146		2:233708804
EIF4EBP3	8637	broad.mit.edu	37	5	139931627	139931628	+	IGR	INS	-	-	AGT	rs3085220|rs368142622	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:139931627_139931628insAGT	ENST00000310331.2	+	0	691				SRA1_ENST00000336283.6_In_Frame_Ins_p.110_111insL|SRA1_ENST00000520427.1_5'UTR	NM_003732.2	NP_003723.1	O60516	4EBP3_HUMAN	eukaryotic translation initiation factor 4E binding protein 3						negative regulation of translational initiation (GO:0045947)	eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	translation repressor activity (GO:0030371)			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCTCCATCACAGCCTCAGA	0.589																																						ENST00000336283.6		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|prostate(1)	4						c.(328-330)gtg>gtACTg		steroid receptor RNA activator 1				1023,3239		149,725,1257						2.0	1.0		dbSNP_102	71	3314,4926		827,1660,1633	no	coding	SRA1	NM_001035235.2		976,2385,2890	A1A1,A1R,RR		40.2184,24.0028,34.6904				4337,8165				SO:0001628	intergenic_variant	10011				apoptosis|cell differentiation|cell proliferation|transcription, DNA-dependent	cytoplasm|ribonucleoprotein complex	receptor activity	g.chr5:139931627_139931628insAGT	AF038869	CCDS4226.1	5q31.3	2007-07-18			ENSG00000243056	ENSG00000243056			3290	protein-coding gene	gene with protein product		603483				9593750	Standard	NM_003732		Approved	4E-BP3	uc003lfy.1	O60516	OTTHUMG00000129498		5.37:g.139931627_139931628insAGT		False	False		Somatic	0				SRA1_ENST00000520427.1_5'UTR	p.110_111insL	NM_001035235.3	NP_001030312.2	WXS	Illumina HiSeq	Phase_I	Q9HD15	SRA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	1150_1151	-			110	V -> RL (in Ref. 1; AAG02116 and 2; AAL55868).					In_Frame_Ins	INS	ENST00000310331.2	37	c.329_330insACT	CCDS4226.1																																																																																				0.589	EIF4EBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251668.2	0	NM_003732		5:139931627
FNDC1	84624	broad.mit.edu	37	6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-	rs547492676	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:15489334}.		cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65																																						ENST00000297267.9		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(3535-3537)gacdel		fibronectin type III domain containing 1																																				SO:0001651	inframe_deletion	84624					extracellular region		g.chr6:159655079_159655081delGAC	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3535_3537delGAC	6.37:g.159655082_159655084delGAC	ENSP00000297267:p.Asp1180del	False	False		Somatic	2				FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	p.D1180del	NM_032532.2	NP_115921.2	WXS	Illumina HiSeq	Phase_I	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3735_3737	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1180		D -> E (in dbSNP:rs420054).			A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	In_Frame_Del	DEL	ENST00000297267.9	37	c.3535_3537delGAC	CCDS47512.1																																																																																				0.650	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	0	NM_032532		6:159655079
CFTR	1080	broad.mit.edu	37	7	117188841	117188843	+	In_Frame_Del	DEL	GTT	GTT	-	rs377319489|rs397508194		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	GTT	GTT	-	-	GTT	GTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:117188841_117188843delGTT	ENST00000003084.6	+	10	1488_1490	c.1356_1358delGTT	c.(1354-1359)cagttg>cag	p.L454del	CFTR_ENST00000454343.1_Intron	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	454	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	AAAGAGGACAGTTGTTGGCGGTT	0.379									Cystic Fibrosis																													ENST00000003084.6		NA																	0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(1354-1359)cagttg>cag		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)																																			SO:0001651	inframe_deletion	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117188841_117188843delGTT	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1356_1358delGTT	7.37:g.117188844_117188846delGTT	ENSP00000003084:p.Leu454del	False	False		Somatic	2				CFTR_ENST00000454343.1_Intron	p.L454del	NM_000492.3	NP_000483.3	WXS	Illumina HiSeq	Phase_I	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		10	1488_1490	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		454			ABC transporter 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	In_Frame_Del	DEL	ENST00000003084.6	37	c.1356_1358delGTT	CCDS5773.1																																																																																				0.379	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	0	NM_000492		7:117188841
AQP7	364	broad.mit.edu	37	9	33395134	33395145	+	In_Frame_Del	DEL	AGTATTTCCTGG	AGTATTTCCTGG	-	rs373384368|rs145775825|rs192851993|rs2381005	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	AGTATTTCCTGG	AGTATTTCCTGG	-	-	AGTATTTCCTGG	AGTATTTCCTGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:33395134_33395145delAGTATTTCCTGG	ENST00000539936.1	-	3	313_324	c.75_86delCCAGGAAATACT	c.(73-87)atccaggaaatactg>atg	p.25_29IQEIL>M	AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	25					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CTTCCTCTGCAGTATTTCCTGGATCTTTGCTA	0.571																																						ENST00000539936.1		NA																	0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(73-87)atccaggaaatactg>atg		aquaporin 7																																				SO:0001651	inframe_deletion	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33395134_33395145delAGTATTTCCTGG	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000539936.1:c.75_86delCCAGGAAATACT	9.37:g.33395134_33395145delAGTATTTCCTGG	ENSP00000439534:p.Ile25_Leu29delinsMet	True	False		Somatic	1				AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000541274.1_5'UTR	p.25_29IQEIL>M			WXS	Illumina HiSeq	Phase_I	O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	3	313_324	-			25					Q08E94|Q5T5L9|Q8NHM3	In_Frame_Del	DEL	ENST00000539936.1	37	c.75_86delCCAGGAAATACT																																																																																					0.571	AQP7-203	KNOWN	basic	protein_coding	protein_coding		0	NM_001170		9:33395134
GRHPR	9380	broad.mit.edu	37	9	37425978	37425978	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:37425978delG	ENST00000318158.6	+	3	359	c.274delG	c.(274-276)gaafs	p.E92fs	GRHPR_ENST00000607784.1_Frame_Shift_Del_p.E92fs|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	92					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		GGCTTTGGATGAAATCAAGAA	0.483																																						ENST00000607784.1		NA																	0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(274-276)gaafs		glyoxylate reductase/hydroxypyruvate reductase							114.0	99.0	104.0					9																	37425978		2203	4300	6503	SO:0001589	frameshift_variant	9380				cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	g.chr9:37425978delG	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.274delG	9.37:g.37425978delG	ENSP00000313432:p.Glu92fs	True	False		Somatic	1				GRHPR_ENST00000318158.6_Frame_Shift_Del_p.E92fs|GRHPR_ENST00000493368.1_3'UTR	p.E92fs			WXS	Illumina HiSeq	Phase_I	Q9UBQ7	GRHPR_HUMAN		GBM - Glioblastoma multiforme(29;0.00687)	3	279	+			92					Q5T945|Q9H3E9|Q9H636|Q9UKX1	Frame_Shift_Del	DEL	ENST00000318158.6	37	c.274delG	CCDS6609.1																																																																																				0.483	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	0	NM_012203		9:37425978
HEXA	3073	broad.mit.edu	37	15	72643552	72643552	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:72643552C>A	ENST00000268097.5	-	6	1097	c.594G>T	c.(592-594)ttG>ttT	p.L198F	HEXA_ENST00000567159.1_Missense_Mutation_p.L198F|HEXA_ENST00000457859.2_Missense_Mutation_p.L6F|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_Missense_Mutation_p.L25F|HEXA_ENST00000566304.1_Missense_Mutation_p.L209F|RP11-106M3.3_ENST00000570175.1_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	198					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GGAACACGTTCAATTTATTGT	0.473																																						ENST00000268097.5		NA																	0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						c.(592-594)ttG>ttT		hexosaminidase A (alpha polypeptide)							161.0	136.0	144.0					15																	72643552		2199	4297	6496	SO:0001583	missense	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72643552C>A	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.594G>T	15.37:g.72643552C>A	ENSP00000268097:p.Leu198Phe	False	False		Somatic	0				RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.L198F|HEXA_ENST00000429918.2_Missense_Mutation_p.L25F|HEXA_ENST00000566304.1_Missense_Mutation_p.L209F|HEXA_ENST00000457859.2_Missense_Mutation_p.L6F|RP11-106M3.3_ENST00000570175.1_RNA	p.L198F	NM_000520.4	NP_000511.2	WXS	Illumina HiSeq	Phase_I	P06865	HEXA_HUMAN			6	1097	-			198					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	c.594G>T	CCDS10243.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755942	0.49362	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	D;D;D	0.96913	-4.17;-4.17;-4.17	5.78	3.88	0.44766	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);Glycoside hydrolase, family 20 (1);	0.228413	0.45361	N	0.000368	D	0.86752	0.6008	N	0.04669	-0.19	0.38384	D	0.945222	B;B;B;B;B	0.15719	0.014;0.001;0.014;0.006;0.002	B;B;B;B;B	0.22152	0.038;0.019;0.038;0.023;0.018	T	0.77789	-0.2456	10	0.07482	T	0.82	-10.1601	5.9301	0.19134	0.0715:0.2888:0.5184:0.1213	.	25;209;25;78;198	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	F	198;6;25	ENSP00000268097:L198F;ENSP00000398026:L6F;ENSP00000416187:L25F	ENSP00000268097:L198F	L	-	3	2	HEXA	70430606	0.986000	0.35501	1.000000	0.80357	0.993000	0.82548	0.207000	0.17395	0.750000	0.32877	0.655000	0.94253	TTG		0.473	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	0	NM_000520		15:72643552
HDLBP	3069	broad.mit.edu	37	2	242194513	242194513	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:242194513C>A	ENST00000391975.1	-	9	1368	c.1141G>T	c.(1141-1143)Ggc>Tgc	p.G381C	HDLBP_ENST00000391976.2_Missense_Mutation_p.G381C|HDLBP_ENST00000310931.4_Missense_Mutation_p.G381C|HDLBP_ENST00000427183.2_Missense_Mutation_p.G348C	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	381	KH 4. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCTTTCTTGCCAATGATGAAA	0.478																																						ENST00000391975.1		NA																	0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(1141-1143)Ggc>Tgc		high density lipoprotein binding protein							196.0	209.0	205.0					2																	242194513		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242194513C>A		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.1141G>T	2.37:g.242194513C>A	ENSP00000375836:p.Gly381Cys	False	False		Somatic	0				HDLBP_ENST00000391976.2_Missense_Mutation_p.G381C|HDLBP_ENST00000427183.2_Missense_Mutation_p.G348C|HDLBP_ENST00000310931.4_Missense_Mutation_p.G381C	p.G381C	NM_203346.3	NP_976221.1	WXS	Illumina HiSeq	Phase_I	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	9	1368	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	381			KH 4.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.1141G>T	CCDS2547.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	34|34|34	5.374320|5.374320|5.374320	0.95923|0.95923|0.95923	.|.|.	.|.|.	ENSG00000115677|ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000453141|ENST00000373292	D;D;D;D|.|.	0.88741|.|.	-2.42;-2.42;-2.42;-2.42|.|.	5.93|5.93|5.93	5.93|5.93|5.93	0.95920|0.95920|0.95920	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.84543|0.84543|0.84543	0.5495|0.5495|0.5495	M|M|M	0.86651|0.86651|0.86651	2.83|2.83|2.83	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0|.|.	D;D;D|.|.	0.97110|.|.	1.0;1.0;1.0|.|.	D|D|D	0.85095|0.85095|0.85095	0.0954|0.0954|0.0954	10|5|5	0.87932|.|.	D|.|.	0|.|.	-37.045|-37.045|-37.045	20.3539|20.3539|20.3539	0.98825|0.98825|0.98825	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	381;348;381|.|.	B2R5V9;E7EM71;Q00341|.|.	.;.;VIGLN_HUMAN|.|.	C|F|L	381;381;381;348|258|189	ENSP00000375836:G381C;ENSP00000375837:G381C;ENSP00000312042:G381C;ENSP00000399139:G348C|.|.	ENSP00000312042:G381C|.|.	G|L|W	-|-|-	1|3|2	0|2|0	HDLBP|HDLBP|HDLBP	241843186|241843186|241843186	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.963000|0.963000|0.963000	0.63663|0.63663|0.63663	7.755000|7.755000|7.755000	0.85180|0.85180|0.85180	2.826000|2.826000|2.826000	0.97356|0.97356|0.97356	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GGC|TTG|TGG		0.478	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	0	NM_203346		2:242194513
ATP2B2	491	broad.mit.edu	37	3	10452375	10452375	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:10452375G>T	ENST00000352432.4	-	2	393	c.324C>A	c.(322-324)ctC>ctA	p.L108L	ATP2B2_ENST00000397077.1_Silent_p.L108L|ATP2B2_ENST00000383800.4_Silent_p.L108L|ATP2B2_ENST00000360273.2_Silent_p.L108L|ATP2B2_ENST00000343816.4_Silent_p.L108L			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	108					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CCAGGATGATGAGCGTCACGT	0.552																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000397077.1		NA																	0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						c.(322-324)ctC>ctA		ATPase, Ca++ transporting, plasma membrane 2							186.0	198.0	194.0					3																	10452375		2203	4300	6503	SO:0001819	synonymous_variant	491				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	g.chr3:10452375G>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.324C>A	3.37:g.10452375G>T		False	False		Somatic	0				ATP2B2_ENST00000343816.4_Silent_p.L108L|ATP2B2_ENST00000383800.4_Silent_p.L108L|ATP2B2_ENST00000360273.2_Silent_p.L108L|ATP2B2_ENST00000352432.4_Silent_p.L108L	p.L108L			WXS	Illumina HiSeq	Phase_I	Q01814	AT2B2_HUMAN			5	899	-			108					O00766|Q12994|Q16818	Silent	SNP	ENST00000352432.4	37	c.324C>A	CCDS33701.1																																																																																				0.552	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	0	NM_001683		3:10452375
VCPIP1	80124	broad.mit.edu	37	8	67578760	67578760	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:67578760C>A	ENST00000310421.4	-	1	692	c.434G>T	c.(433-435)cGg>cTg	p.R145L	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	145					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			AAGCTTGGCCCGGCCTGTCTG	0.517																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4		NA																	0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(433-435)cGg>cTg		valosin containing protein (p97)/p47 complex interacting protein 1							106.0	97.0	100.0					8																	67578760		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67578760C>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.434G>T	8.37:g.67578760C>A	ENSP00000309031:p.Arg145Leu	True	False		Somatic	0					p.R145L	NM_025054.4	NP_079330.2	WXS	Illumina HiSeq	Phase_I	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	692	-		Lung NSC(129;0.142)|all_lung(136;0.227)	145					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.434G>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.599893	0.46318	.	.	ENSG00000175073	ENST00000310421	T	0.33654	1.4	6.17	6.17	0.99709	.	0.250144	0.40554	N	0.001077	T	0.19406	0.0466	N	0.08118	0	0.35845	D	0.826367	B	0.23891	0.093	B	0.21151	0.033	T	0.13899	-1.0492	10	0.87932	D	0	-9.9394	8.1392	0.31073	0.0:0.8201:0.0:0.1799	.	145	Q96JH7	VCIP1_HUMAN	L	145	ENSP00000309031:R145L	ENSP00000309031:R145L	R	-	2	0	VCPIP1	67741314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.008000	0.57103	2.941000	0.99782	0.655000	0.94253	CGG		0.517	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1	0			8:67578760
PKM	5315	broad.mit.edu	37	15	72500985	72500985	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:72500985G>T	ENST00000335181.5	-	6	916	c.813C>A	c.(811-813)atC>atA	p.I271I	PKM_ENST00000449901.2_Silent_p.I256I|PKM_ENST00000565184.1_Silent_p.I271I|PKM_ENST00000568883.1_Silent_p.I106I|PKM_ENST00000565154.1_Silent_p.I271I|PKM_ENST00000319622.6_Silent_p.I271I|PKM_ENST00000389093.3_Silent_p.I271I|PKM_ENST00000568459.1_Silent_p.I271I	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	271					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.I271I(1)		endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	CATGATTCTCGATTTTGCTGA	0.512																																						ENST00000319622.6		NA																	1	Substitution - coding silent(1)	p.I271I(1)	large_intestine(1)	endometrium(1)|lung(7)	8						c.(811-813)atC>atA		pyruvate kinase, muscle							181.0	155.0	164.0					15																	72500985		2199	4297	6496	SO:0001819	synonymous_variant	5315							g.chr15:72500985G>T	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.813C>A	15.37:g.72500985G>T		False	False		Somatic	0				PKM_ENST00000568883.1_Silent_p.I106I|PKM_ENST00000449901.2_Silent_p.I256I|PKM_ENST00000565154.1_Silent_p.I271I|PKM_ENST00000565184.1_Silent_p.I271I|PKM_ENST00000335181.5_Silent_p.I271I|PKM_ENST00000389093.3_Silent_p.I271I|PKM_ENST00000568459.1_Silent_p.I271I	p.I271I	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1	WXS	Illumina HiSeq	Phase_I					6	1269	-			NA					A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Silent	SNP	ENST00000335181.5	37	c.813C>A	CCDS32284.1																																																																																				0.512	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1	0			15:72500985
EMC1	23065	broad.mit.edu	37	1	19567555	19567555	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:19567555C>A	ENST00000477853.1	-	6	633	c.591G>T	c.(589-591)gtG>gtT	p.V197V	EMC1_ENST00000375199.3_Silent_p.V197V|RP1-43E13.2_ENST00000437898.1_RNA|EMC1_ENST00000375208.3_Silent_p.V175V	NM_001271427.1|NM_001271428.1|NM_015047.2	NP_001258356.1|NP_001258357.1|NP_055862.1	Q8N766	EMC1_HUMAN	ER membrane protein complex subunit 1	197						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)											TGACAATGTTCACATGGCTGA	0.502											OREG0013169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000477853.1		NA																	0					NA						c.(589-591)gtG>gtT		ER membrane protein complex subunit 1							154.0	153.0	154.0					1																	19567555		2203	4300	6503	SO:0001819	synonymous_variant	23065							g.chr1:19567555C>A		CCDS190.1, CCDS59190.1, CCDS59191.1	1p36.13	2012-05-23	2012-05-23	2012-05-23	ENSG00000127463	ENSG00000127463			28957	protein-coding gene	gene with protein product			"""KIAA0090"""	KIAA0090		22119785	Standard	NM_015047		Approved		uc001bbo.4	Q8N766	OTTHUMG00000002497	ENST00000477853.1:c.591G>T	1.37:g.19567555C>A		False	False		Somatic	0	OREG0013169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	734	EMC1_ENST00000375199.3_Silent_p.V197V|EMC1_ENST00000375208.3_Silent_p.V175V	p.V197V	NM_001271428.1|NM_015047.1	NP_001258357.1|NP_055862.1	WXS	Illumina HiSeq	Phase_I					6	633	-			NA					A8K6F3|Q14700|Q5TG62|Q63HL0|Q63HL3|Q8NBH8	Silent	SNP	ENST00000477853.1	37	c.591G>T	CCDS190.1																																																																																				0.502	EMC1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000007076.2	0	NM_015047		1:19567555
ITGB6	3694	broad.mit.edu	37	2	160994703	160994703	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:160994703C>A	ENST00000283249.2	-	9	1352	c.1115G>T	c.(1114-1116)cGg>cTg	p.R372L	ITGB6_ENST00000409872.1_Missense_Mutation_p.R372L|ITGB6_ENST00000409967.2_Missense_Mutation_p.R372L|ITGB6_ENST00000428609.2_Missense_Mutation_p.R330L	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	372					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CACCTCAGACCGCAGTTCCTT	0.403																																						ENST00000283249.2		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(1114-1116)cGg>cTg		integrin, beta 6							179.0	155.0	163.0					2																	160994703		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:160994703C>A		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.1115G>T	2.37:g.160994703C>A	ENSP00000283249:p.Arg372Leu	False	False		Somatic	0				ITGB6_ENST00000428609.2_Missense_Mutation_p.R330L|ITGB6_ENST00000409967.2_Missense_Mutation_p.R372L|ITGB6_ENST00000409872.1_Missense_Mutation_p.R372L	p.R372L			WXS	Illumina HiSeq	Phase_I	P18564	ITB6_HUMAN			9	1352	-			372					B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.1115G>T	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069244	0.93950	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.97505	-4.41;-4.41;-4.41;-4.41	5.76	5.76	0.90799	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98438	0.9480	M	0.78285	2.405	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98288	1.0512	10	0.49607	T	0.09	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	330;372	E9PEE8;P18564	.;ITB6_HUMAN	L	372;330;372;372	ENSP00000283249:R372L;ENSP00000408024:R330L;ENSP00000386828:R372L;ENSP00000386367:R372L	ENSP00000283249:R372L	R	-	2	0	ITGB6	160702949	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	7.559000	0.82265	2.880000	0.98712	0.650000	0.86243	CGG		0.403	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	0	NM_000888		2:160994703
PRB3	5544	broad.mit.edu	37	12	11420551	11420551	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:11420551C>T	ENST00000279573.7	-	3	767	c.632G>A	c.(631-633)gGa>gAa	p.G211E	PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Missense_Mutation_p.G190E|PRB3_ENST00000381842.3_Intron			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	211	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).		defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGTTTCCTCCTTGTGGGGG	0.627																																						ENST00000381842.3		NA																	0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							74.0	94.0	88.0					12																	11420551		1662	3708	5370	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420551C>T			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.632G>A	12.37:g.11420551C>T	ENSP00000279573:p.Gly211Glu	False	False		Somatic	0				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA		NM_006249.4	NP_006240.4	WXS	Illumina HiSeq	Phase_I	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	642	-			NA					Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37			.	.	.	.	.	.	.	.	.	.	.	3.758	-0.050200	0.07407	.	.	ENSG00000197870	ENST00000538488	T	0.08984	3.03	1.13	0.161	0.14977	.	2.415300	0.04566	N	0.392332	T	0.05823	0.0152	.	.	.	0.09310	N	1	B	0.27166	0.17	B	0.20384	0.029	T	0.38779	-0.9645	9	0.39692	T	0.17	.	3.799	0.08751	0.0:0.5104:0.0:0.4895	.	211	Q04118	PRB3_HUMAN	E	190	ENSP00000442626:G190E	ENSP00000279573:G211E	G	-	2	0	PRB3	11311818	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	-0.527000	0.06200	0.043000	0.15746	0.194000	0.17425	GGA		0.627	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	0	NM_006249		12:11420551
DCP2	167227	broad.mit.edu	37	5	112321534	112321534	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:112321534G>T	ENST00000389063.2	+	2	254	c.56G>T	c.(55-57)cGa>cTa	p.R19L	DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Missense_Mutation_p.R19L	NM_152624.5	NP_689837	Q8IU60	DCP2_HUMAN	decapping mRNA 2	19					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)|RISC complex (GO:0016442)	exoribonuclease activity, producing 5'-phosphomonoesters (GO:0016896)|m7G(5')pppN diphosphatase activity (GO:0050072)|manganese ion binding (GO:0030145)|RNA binding (GO:0003723)			endometrium(3)|large_intestine(6)|lung(1)	10		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)		TTTGACAGCCGATTTATTTTG	0.358																																						ENST00000389063.2		NA																	0				endometrium(3)|large_intestine(6)|lung(1)	10						c.(55-57)cGa>cTa		decapping mRNA 2							163.0	152.0	156.0					5																	112321534		2202	4300	6502	SO:0001583	missense	167227				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex	exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding	g.chr5:112321534G>T	AY135173	CCDS34210.1, CCDS56377.1	5q22	2013-05-02	2013-05-02		ENSG00000172795	ENSG00000172795	3.6.1.62	"""Nudix motif containing"""	24452	protein-coding gene	gene with protein product	"""nudix (nucleoside diphosphate linked moiety X)-type motif 20"", ""M(7)GpppN-mRNA hydrolase"""	609844	"""DCP2 decapping enzyme homolog (S. cerevisiae)"""			12218187, 12417715	Standard	NM_152624		Approved	NUDT20	uc003kqh.3	Q8IU60	OTTHUMG00000162853	ENST00000389063.2:c.56G>T	5.37:g.112321534G>T	ENSP00000373715:p.Arg19Leu	True	False		Somatic	0				DCP2_ENST00000515408.1_Missense_Mutation_p.R19L|DCP2_ENST00000543319.1_Intron	p.R19L	NM_152624.5	NP_689837.2	WXS	Illumina HiSeq	Phase_I	Q8IU60	DCP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171)	2	254	+		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)	19					C9J778|Q6P2D4|Q7Z5W5|Q8NBG5	Missense_Mutation	SNP	ENST00000389063.2	37	c.56G>T	CCDS34210.1	.	.	.	.	.	.	.	.	.	.	G	34	5.317160	0.95682	.	.	ENSG00000172795	ENST00000515408;ENST00000389063	T;T	0.71341	-0.56;-0.56	5.48	5.48	0.80851	mRNA decapping protein 2, Box A (1);	0.058834	0.64402	N	0.000001	D	0.88901	0.6563	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91169	0.4967	10	0.87932	D	0	.	19.7147	0.96110	0.0:0.0:1.0:0.0	.	19	Q8IU60	DCP2_HUMAN	L	19	ENSP00000425770:R19L;ENSP00000373715:R19L	ENSP00000373715:R19L	R	+	2	0	DCP2	112349433	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.373000	0.97168	2.732000	0.93576	0.591000	0.81541	CGA		0.358	DCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370765.3	0	NM_152624		5:112321534
SKA1	220134	broad.mit.edu	37	18	47918506	47918506	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr18:47918506C>A	ENST00000285116.3	+	7	868	c.657C>A	c.(655-657)ttC>ttA	p.F219L	SKA1_ENST00000417656.2_Missense_Mutation_p.F173L|SKA1_ENST00000488454.1_Missense_Mutation_p.F68L|SKA1_ENST00000398452.2_Missense_Mutation_p.F219L	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	219					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						TAAAGGAGTTCACAACTTTGA	0.378																																						ENST00000285116.3		NA																	0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						c.(655-657)ttC>ttA		spindle and kinetochore associated complex subunit 1							91.0	94.0	93.0					18																	47918506		2203	4300	6503	SO:0001583	missense	220134				cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding	g.chr18:47918506C>A	BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 24"""	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.657C>A	18.37:g.47918506C>A	ENSP00000285116:p.Phe219Leu	False	False		Somatic	0				SKA1_ENST00000398452.2_Missense_Mutation_p.F219L|SKA1_ENST00000417656.2_Missense_Mutation_p.F173L|SKA1_ENST00000488454.1_Missense_Mutation_p.F68L	p.F219L	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	WXS	Illumina HiSeq	Phase_I	Q96BD8	SKA1_HUMAN			7	868	+			219					B2R9Y6|B4E0P4	Missense_Mutation	SNP	ENST00000285116.3	37	c.657C>A	CCDS11946.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598148	0.66332	.	.	ENSG00000154839	ENST00000285116;ENST00000417656;ENST00000398452	T;T;T	0.37752	1.18;1.18;1.18	6.04	5.18	0.71444	.	0.046452	0.85682	D	0.000000	T	0.47820	0.1466	L	0.61036	1.89	0.45762	D	0.998652	P;P	0.48089	0.884;0.905	P;P	0.54401	0.507;0.751	T	0.49254	-0.8959	10	0.62326	D	0.03	.	9.4762	0.38873	0.0:0.8409:0.0:0.1591	.	173;219	Q96BD8-2;Q96BD8	.;SKA1_HUMAN	L	219;173;219	ENSP00000285116:F219L;ENSP00000397222:F173L;ENSP00000381470:F219L	ENSP00000285116:F219L	F	+	3	2	SKA1	46172504	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	1.222000	0.32515	1.568000	0.49683	0.563000	0.77884	TTC		0.378	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255982.2	0	NM_145060		18:47918506
SUMO3	6612	broad.mit.edu	37	21	46233942	46233942	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr21:46233942G>T	ENST00000397898.3	-	2	181	c.99C>A	c.(97-99)atC>atA	p.I33I	SUMO3_ENST00000397893.3_Silent_p.I33I|SUMO3_ENST00000411651.2_Silent_p.I33I|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000332859.6_Silent_p.I33I					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		TGTGCCTCTTGATCTTGAACT	0.622																																						ENST00000332859.6		NA																	0				prostate(1)	1						c.(97-99)atC>atA		small ubiquitin-like modifier 3							179.0	158.0	165.0					21																	46233942		2203	4300	6503	SO:0001819	synonymous_variant	6612				protein sumoylation	cytoplasm|kinetochore	protein binding	g.chr21:46233942G>T		CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"""SMT3 (suppressor of mif two 3, yeast) homolog 1"", ""SMT3 suppressor of mif two 3 homolog 3 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"""	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397898.3:c.99C>A	21.37:g.46233942G>T		True	False		Somatic	0				SUMO3_ENST00000397893.3_Silent_p.I33I|SUMO3_ENST00000411651.2_Silent_p.I33I|SUMO3_ENST00000397898.3_Silent_p.I33I|SUMO3_ENST00000479153.1_5'UTR	p.I33I	NM_006936.2	NP_008867.2	WXS	Illumina HiSeq	Phase_I	P55854	SUMO3_HUMAN		Colorectal(79;0.058)	2	259	-			33			Ubiquitin-like.			Silent	SNP	ENST00000397898.3	37	c.99C>A																																																																																					0.622	SUMO3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000206561.1	0			21:46233942
SLC25A13	10165	broad.mit.edu	37	7	95813702	95813702	+	Missense_Mutation	SNP	C	C	T	rs398122839		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:95813702C>T	ENST00000265631.5	-	11	1200	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	SLC25A13_ENST00000542654.1_Missense_Mutation_p.R247Q|SLC25A13_ENST00000416240.2_Missense_Mutation_p.R356Q			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	355					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	GTTCTGCATTCGAGTTTTTAC	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		13282	0.0		0.0	False		,,,				2504	0.001					ENST00000416240.2		NA																	0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(1066-1068)cGa>cAa		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						81.0	75.0	77.0					7																	95813702		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95813702C>T	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1064G>A	7.37:g.95813702C>T	ENSP00000265631:p.Arg355Gln	False	False		Somatic	0				SLC25A13_ENST00000265631.5_Missense_Mutation_p.R355Q|SLC25A13_ENST00000542654.1_Missense_Mutation_p.R247Q	p.R356Q	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	WXS	Illumina HiSeq	Phase_I	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		11	1257	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		355					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.1067G>A	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952987	0.92660	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	D;D;D	0.83591	-1.74;-1.74;-1.74	4.56	3.68	0.42216	Mitochondrial carrier domain (2);	0.000000	0.64402	D	0.000001	D	0.90728	0.7090	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.997;0.997	D	0.91822	0.5468	10	0.87932	D	0	-7.7694	12.8922	0.58078	0.0:0.9209:0.0:0.0791	.	247;356;355	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	Q	355;356;247	ENSP00000265631:R355Q;ENSP00000400101:R356Q;ENSP00000440484:R247Q	ENSP00000265631:R355Q	R	-	2	0	SLC25A13	95651638	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.651000	0.83577	1.279000	0.44446	0.655000	0.94253	CGA		0.373	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	0	NM_014251		7:95813702
SPATA18	132671	broad.mit.edu	37	4	52960706	52960706	+	Missense_Mutation	SNP	G	G	A	rs562919654		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:52960706G>A	ENST00000295213.4	+	12	1951	c.1577G>A	c.(1576-1578)cGg>cAg	p.R526Q	SPATA18_ENST00000419395.2_Missense_Mutation_p.R494Q	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	526					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCTCGAAGTCGGAGTCCTTCT	0.348																																						ENST00000295213.4		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1576-1578)cGg>cAg		spermatogenesis associated 18							116.0	121.0	119.0					4																	52960706		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52960706G>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.1577G>A	4.37:g.52960706G>A	ENSP00000295213:p.Arg526Gln	False	False		Somatic	0				SPATA18_ENST00000419395.2_Missense_Mutation_p.R494Q	p.R526Q	NM_145263.2	NP_660306.1	WXS	Illumina HiSeq	Phase_I	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		12	1951	+			526					B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.1577G>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719010	0.89205	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.36340	1.26;1.29	4.84	4.84	0.62591	.	0.197922	0.43579	D	0.000555	T	0.55955	0.1953	M	0.61703	1.905	0.38418	D	0.946104	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.60459	-0.7259	10	0.66056	D	0.02	-9.9646	13.6443	0.62272	0.0:0.0:1.0:0.0	.	494;526	Q8TC71-2;Q8TC71	.;MIEAP_HUMAN	Q	526;494	ENSP00000295213:R526Q;ENSP00000415309:R494Q	ENSP00000295213:R526Q	R	+	2	0	SPATA18	52655463	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.694000	0.61760	2.677000	0.91161	0.655000	0.94253	CGG		0.348	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	0	NM_145263		4:52960706
TIGD7	91151	broad.mit.edu	37	16	3350485	3350485	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:3350485C>A	ENST00000396862.1	-	2	1958	c.130G>T	c.(130-132)Gac>Tac	p.D44Y	TIGD7_ENST00000574598.1_5'Flank|TIGD7_ENST00000268674.2_Missense_Mutation_p.D44Y	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	44	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TTTTTAATGTCATAAAATGTT	0.363																																						ENST00000396862.1		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(130-132)Gac>Tac		tigger transposable element derived 7							103.0	103.0	103.0					16																	3350485		2197	4300	6497	SO:0001583	missense	91151				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr16:3350485C>A	AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.130G>T	16.37:g.3350485C>A	ENSP00000380071:p.Asp44Tyr	False	False		Somatic	0				TIGD7_ENST00000268674.2_Missense_Mutation_p.D44Y	p.D44Y	NM_033208.3	NP_149985.2	WXS	Illumina HiSeq	Phase_I	Q6NT04	TIGD7_HUMAN			2	1958	-			44			HTH psq-type.		Q9BXZ0	Missense_Mutation	SNP	ENST00000396862.1	37	c.130G>T	CCDS10500.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117075	0.37339	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.46819	0.86;0.86	4.29	3.34	0.38264	Homeodomain-related (1);Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	0.000000	0.36555	U	0.002540	T	0.45597	0.1350	N	0.19112	0.55	0.33142	D	0.544487	D	0.59767	0.986	P	0.61397	0.888	T	0.56908	-0.7901	10	0.54805	T	0.06	.	7.7276	0.28769	0.0:0.8858:0.0:0.1142	.	44	Q6NT04	TIGD7_HUMAN	Y	44	ENSP00000380071:D44Y;ENSP00000268674:D44Y	ENSP00000268674:D44Y	D	-	1	0	TIGD7	3290486	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.816000	0.38992	1.028000	0.39785	0.655000	0.94253	GAC		0.363	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251465.1	0	NM_033208		16:3350485
MEP1A	4224	broad.mit.edu	37	6	46797278	46797278	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:46797278C>A	ENST00000230588.4	+	10	1123	c.1114C>A	c.(1114-1116)Cgc>Agc	p.R372S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	372	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGGCAATGTTCGCAAGTTGGT	0.488																																						ENST00000230588.4		NA																	0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1114-1116)Cgc>Agc		meprin A, alpha (PABA peptide hydrolase)							137.0	145.0	143.0					6																	46797278		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46797278C>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1114C>A	6.37:g.46797278C>A	ENSP00000230588:p.Arg372Ser	False	False		Somatic	0					p.R372S	NM_005588.2	NP_005579.2	WXS	Illumina HiSeq	Phase_I	Q16819	MEP1A_HUMAN	Lung(136;0.192)		10	1123	+			372			MAM.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.1114C>A	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330826	0.41297	.	.	ENSG00000112818	ENST00000230588	T	0.02067	4.47	5.77	4.89	0.63831	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.342421	0.34435	N	0.003979	T	0.03783	0.0107	M	0.74881	2.28	0.43522	D	0.995798	D;D	0.58970	0.984;0.984	P;P	0.61070	0.858;0.883	T	0.53753	-0.8394	10	0.19147	T	0.46	-12.7042	10.0322	0.42107	0.1364:0.7941:0.0:0.0695	.	400;372	B7ZL91;Q16819	.;MEP1A_HUMAN	S	372	ENSP00000230588:R372S	ENSP00000230588:R372S	R	+	1	0	MEP1A	46905237	0.011000	0.17503	0.879000	0.34478	0.799000	0.45148	0.779000	0.26746	1.410000	0.46936	0.650000	0.86243	CGC		0.488	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	0	NM_005588		6:46797278
MIEF2	125170	broad.mit.edu	37	17	18167206	18167206	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:18167206C>A	ENST00000323019.4	+	4	704	c.493C>A	c.(493-495)Cgg>Agg	p.R165R	MIEF2_ENST00000395706.2_Silent_p.R176R|MIEF2_ENST00000395704.4_Nonsense_Mutation_p.S140*|MIEF2_ENST00000577216.1_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	165					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)											GGCCTACTTTCGGAGCAAGTT	0.672																																						ENST00000395704.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(418-420)tCg>tAg									30.0	30.0	30.0					17																	18167206		2202	4298	6500	SO:0001819	synonymous_variant	0					integral to membrane	protein binding	g.chr17:18167206C>A	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.493C>A	17.37:g.18167206C>A		True	False		Somatic	0				SMCR7_ENST00000577216.1_3'UTR|SMCR7_ENST00000395706.2_Silent_p.R176R|SMCR7_ENST00000323019.4_Silent_p.R165R	p.S140*			WXS	Illumina HiSeq	Phase_I	Q96C03	SMCR7_HUMAN			4	567	+	all_neural(463;0.228)		21					J3KPT3|Q6ZRD4|Q96N07	Nonsense_Mutation	SNP	ENST00000323019.4	37	c.419C>A	CCDS11193.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070652	0.55539	.	.	ENSG00000177427	ENST00000395704	.	.	.	5.32	3.21	0.36854	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-28.9718	13.8672	0.63596	0.4861:0.5139:0.0:0.0	.	.	.	.	X	140	.	.	S	+	2	0	SMCR7	18107931	0.169000	0.23002	0.090000	0.20809	0.716000	0.41182	0.796000	0.26986	0.465000	0.27167	0.563000	0.77884	TCG		0.672	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	0	NM_139162		17:18167206
COL14A1	7373	broad.mit.edu	37	8	121160132	121160132	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:121160132G>T	ENST00000297848.3	+	2	321	c.51G>T	c.(49-51)ttG>ttT	p.L17F	COL14A1_ENST00000309791.4_Missense_Mutation_p.L17F|COL14A1_ENST00000537875.1_Missense_Mutation_p.L17F|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.L17F	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CACCTTTTTTGGCAATTGTTT	0.408																																						ENST00000297848.3		NA																	0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(49-51)ttG>ttT		collagen, type XIV, alpha 1							116.0	109.0	111.0					8																	121160132		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121160132G>T		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.51G>T	8.37:g.121160132G>T	ENSP00000297848:p.Leu17Phe	True	False		Somatic	0				COL14A1_ENST00000247781.3_Missense_Mutation_p.L17F|COL14A1_ENST00000309791.4_Missense_Mutation_p.L17F|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.L17F	p.L17F	NM_021110.1	NP_066933.1	WXS	Illumina HiSeq	Phase_I	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		2	321	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		17						Missense_Mutation	SNP	ENST00000297848.3	37	c.51G>T	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	9.500	1.102890	0.20632	.	.	ENSG00000187955	ENST00000537875;ENST00000309791;ENST00000297848;ENST00000247781	T;D;D;D	0.88896	0.4;-2.23;-2.26;-2.44	5.92	5.04	0.67666	.	0.680937	0.13024	N	0.419846	D	0.82683	0.5090	N	0.24115	0.695	0.20563	N	0.999883	B	0.02656	0.0	B	0.04013	0.001	T	0.73927	-0.3828	10	0.66056	D	0.02	.	12.49	0.55895	0.0:0.0:0.8328:0.1672	.	17	Q05707	COEA1_HUMAN	F	17	ENSP00000443974:L17F;ENSP00000311809:L17F;ENSP00000297848:L17F;ENSP00000247781:L17F	ENSP00000247781:L17F	L	+	3	2	COL14A1	121229313	0.226000	0.23696	0.731000	0.30826	0.189000	0.23516	1.973000	0.40550	1.505000	0.48720	0.655000	0.94253	TTG		0.408	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	0	NM_021110		8:121160132
ZNF599	148103	broad.mit.edu	37	19	35251059	35251059	+	Missense_Mutation	SNP	C	C	A	rs202116567		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:35251059C>A	ENST00000329285.8	-	4	1020	c.647G>T	c.(646-648)cGg>cTg	p.R216L		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CTGTTGATGCCGAACAAGGGC	0.478																																						ENST00000329285.7		NA																	0				endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24						c.(646-648)cGg>cTg		zinc finger protein 599							190.0	183.0	186.0					19																	35251059		2203	4300	6503	SO:0001583	missense	148103				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35251059C>A	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.647G>T	19.37:g.35251059C>A	ENSP00000333802:p.Arg216Leu	False	False		Somatic	0					p.R216L	NM_001007248.2	NP_001007249.1	WXS	Illumina HiSeq	Phase_I	Q96NL3	ZN599_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1020	-	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		216					Q569K0|Q5PRG1	Missense_Mutation	SNP	ENST00000329285.8	37	c.647G>T	CCDS32991.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.313663	0.23908	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000392229	T	0.26373	1.74	2.26	0.0456	0.14231	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16171	0.0389	L	0.37897	1.145	0.34881	D	0.744589	B	0.12630	0.006	B	0.11329	0.006	T	0.14615	-1.0466	9	0.30854	T	0.27	.	4.902	0.13779	0.0:0.5163:0.0:0.4837	.	216	Q96NL3	ZN599_HUMAN	L	215;216;18	ENSP00000333802:R216L	ENSP00000333802:R216L	R	-	2	0	ZNF599	39942899	0.000000	0.05858	0.813000	0.32504	0.890000	0.51754	-1.158000	0.03153	0.080000	0.16959	0.313000	0.20887	CGG		0.478	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460648.2	0	XM_086046		19:35251059
TCF23	150921	broad.mit.edu	37	2	27373013	27373013	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:27373013C>T	ENST00000296096.5	+	2	375	c.245C>T	c.(244-246)gCc>gTc	p.A82V		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	82	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAGAATGCCGCGCGGGAG	0.652																																						ENST00000296096.5		NA																	0				large_intestine(2)|lung(11)|prostate(1)	14						c.(244-246)gCc>gTc		transcription factor 23							40.0	46.0	44.0					2																	27373013		2203	4300	6503	SO:0001583	missense	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27373013C>T	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"""Basic helix-loop-helix proteins"""	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.245C>T	2.37:g.27373013C>T	ENSP00000296096:p.Ala82Val	True	False		Somatic	0					p.A82V	NM_175769.2	NP_786951.1	WXS	Illumina HiSeq	Phase_I	Q7RTU1	TCF23_HUMAN			2	375	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		82					B2RNZ3	Missense_Mutation	SNP	ENST00000296096.5	37	c.245C>T	CCDS33163.1	.	.	.	.	.	.	.	.	.	.	C	33	5.221376	0.95139	.	.	ENSG00000163792	ENST00000296096	D	0.97906	-4.6	5.66	5.66	0.87406	Helix-loop-helix DNA-binding (5);	0.054766	0.64402	D	0.000001	D	0.98150	0.9389	M	0.65975	2.015	0.53688	D	0.999972	D	0.60160	0.987	P	0.60789	0.879	D	0.98239	1.0487	10	0.48119	T	0.1	-6.4656	17.2403	0.87011	0.0:1.0:0.0:0.0	.	82	Q7RTU1	TCF23_HUMAN	V	82	ENSP00000296096:A82V	ENSP00000296096:A82V	A	+	2	0	TCF23	27226517	1.000000	0.71417	0.879000	0.34478	0.676000	0.39594	5.750000	0.68712	2.680000	0.91292	0.561000	0.74099	GCC		0.652	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	0	NM_175769		2:27373013
NPM1	4869	broad.mit.edu	37	5	170827880	170827880	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:170827880C>A	ENST00000296930.5	+	8	921	c.620C>A	c.(619-621)tCa>tAa	p.S207*	NPM1_ENST00000351986.6_Intron|NPM1_ENST00000517671.1_Nonsense_Mutation_p.S207*|NPM1_ENST00000393820.2_Nonsense_Mutation_p.S207*	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	207					cell aging (GO:0007569)|CENP-A containing nucleosome assembly (GO:0034080)|centrosome cycle (GO:0007098)|DNA repair (GO:0006281)|intracellular protein transport (GO:0006886)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of centrosome duplication (GO:0010826)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of translation (GO:0045727)|protein localization (GO:0008104)|protein oligomerization (GO:0051259)|regulation of centriole replication (GO:0046599)|regulation of eIF2 alpha phosphorylation by dsRNA (GO:0060735)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of endoribonuclease activity (GO:0060699)|response to stress (GO:0006950)|ribosome assembly (GO:0042255)|signal transduction (GO:0007165)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle pole centrosome (GO:0031616)	histone binding (GO:0042393)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|unfolded protein binding (GO:0051082)		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCACAAAAGTCAAATCAGAAT	0.388			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""																																	ENST00000296930.5		NA		Dom	yes		5	5q35	4869	"""T, F """	"""nucleophosmin (nucleolar phosphoprotein B23, numatrin)"""			L	"""ALK, RARA, MLF1"""		"""NHL, APL, AML"""	NPM1/ALK(632)	0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269						c.(619-621)tCa>tAa		nucleophosmin (nucleolar phosphoprotein B23, numatrin)							75.0	74.0	74.0					5																	170827880		2203	4300	6503	SO:0001587	stop_gained	4869				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding	g.chr5:170827880C>A	M26697	CCDS4376.1, CCDS4377.1, CCDS43399.1	5q35.1	2014-09-17			ENSG00000181163	ENSG00000181163			7910	protein-coding gene	gene with protein product	"""nucleolar phosphoprotein B23"", ""numatrin"", ""nucleophosmin/nucleoplasmin family, member 1"""	164040				8471164, 8122112	Standard	NM_002520		Approved	B23, NPM	uc003mbi.3	P06748	OTTHUMG00000130465	ENST00000296930.5:c.620C>A	5.37:g.170827880C>A	ENSP00000296930:p.Ser207*	True	False		Somatic	0				NPM1_ENST00000517671.1_Nonsense_Mutation_p.S207*|NPM1_ENST00000351986.6_Intron|NPM1_ENST00000393820.2_Nonsense_Mutation_p.S207*	p.S207*	NM_002520.6	NP_002511.1	WXS	Illumina HiSeq	Phase_I	P06748	NPM_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		8	921	+	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	207					A8K3N7|B5BU00|D3DQL6|P08693|Q12826|Q13440|Q13441|Q14115|Q5EU94|Q5EU95|Q5EU96|Q5EU97|Q5EU98|Q5EU99|Q6V962|Q8WTW5|Q96AT6|Q96DC4|Q96EA5|Q9BYG9|Q9UDJ7	Nonsense_Mutation	SNP	ENST00000296930.5	37	c.620C>A	CCDS4376.1	.	.	.	.	.	.	.	.	.	.	C	37	6.559008	0.97663	.	.	ENSG00000181163	ENST00000517671;ENST00000296930;ENST00000393820	.	.	.	4.39	4.39	0.52855	.	0.540943	0.18436	U	0.141282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0557	0.64767	0.0:1.0:0.0:0.0	.	.	.	.	X	207	.	ENSP00000296930:S207X	S	+	2	0	NPM1	170760485	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.156000	0.58138	2.150000	0.67090	0.561000	0.74099	TCA		0.388	NPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252858.2	0	NM_002520		5:170827880
CTSC	1075	broad.mit.edu	37	11	88029368	88029368	+	Silent	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:88029368T>C	ENST00000227266.5	-	6	936	c.822A>G	c.(820-822)ctA>ctG	p.L274L		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	274					aging (GO:0007568)|immune response (GO:0006955)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of proteolysis involved in cellular protein catabolic process (GO:1903052)|proteolysis (GO:0006508)|response to organic substance (GO:0010033)|T cell mediated cytotoxicity (GO:0001913)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	chaperone binding (GO:0051087)|chloride ion binding (GO:0031404)|cysteine-type peptidase activity (GO:0008234)|peptidase activator activity involved in apoptotic process (GO:0016505)|phosphatase binding (GO:0019902)|serine-type endopeptidase activity (GO:0004252)			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATTGTTGGTTAGTATACGGA	0.448																																						ENST00000227266.5		NA																	0				large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22						c.(820-822)ctA>ctG		cathepsin C							142.0	137.0	138.0					11																	88029368		2201	4299	6500	SO:0001819	synonymous_variant	1075				immune response	lysosome	cysteine-type endopeptidase activity	g.chr11:88029368T>C	AK223038	CCDS8282.1, CCDS31654.1, CCDS44693.1	11q14.2	2014-09-17			ENSG00000109861	ENSG00000109861	3.4.14.1	"""Cathepsins"""	2528	protein-coding gene	gene with protein product	"""dipeptidyl peptidase 1"""	602365		PLS, PALS		7649281, 9092576	Standard	NM_148170		Approved	DPP1	uc001pck.4	P53634	OTTHUMG00000167290	ENST00000227266.5:c.822A>G	11.37:g.88029368T>C		False	False		Somatic	0					p.L274L	NM_001814.4	NP_001805.3	WXS	Illumina HiSeq	Phase_I	P53634	CATC_HUMAN			6	936	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	274					A8K7V2|B5MDD5|Q2HIY8|Q53G93|Q71E75|Q71E76|Q7M4N9|Q7Z3G7|Q7Z5U7|Q8WY99|Q8WYA7|Q8WYA8	Silent	SNP	ENST00000227266.5	37	c.822A>G	CCDS8282.1																																																																																				0.448	CTSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394019.2	0	NM_001814		11:88029368
LRP2	4036	broad.mit.edu	37	2	170070176	170070176	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:170070176G>T	ENST00000263816.3	-	36	6316	c.6031C>A	c.(6031-6033)Cac>Aac	p.H2011N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2011					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CTGCGTCTGTGATAAACTTGA	0.393																																						ENST00000263816.3		NA																	0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(6031-6033)Cac>Aac		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						138.0	136.0	137.0					2																	170070176		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170070176G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.6031C>A	2.37:g.170070176G>T	ENSP00000263816:p.His2011Asn	False	False		Somatic	0					p.H2011N	NM_004525.2	NP_004516.2	WXS	Illumina HiSeq	Phase_I	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	36	6316	-			2011					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.6031C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	9.860	1.195950	0.22037	.	.	ENSG00000081479	ENST00000263816	D	0.91068	-2.78	5.96	2.86	0.33363	Six-bladed beta-propeller, TolB-like (1);	0.334175	0.36854	N	0.002371	T	0.81484	0.4832	L	0.51853	1.615	0.80722	D	1	P	0.35656	0.514	B	0.21708	0.036	T	0.73424	-0.3987	10	0.17832	T	0.49	.	5.3453	0.16006	0.5156:0.0:0.4844:0.0	.	2011	P98164	LRP2_HUMAN	N	2011	ENSP00000263816:H2011N	ENSP00000263816:H2011N	H	-	1	0	LRP2	169778422	1.000000	0.71417	0.980000	0.43619	0.987000	0.75469	2.294000	0.43567	0.873000	0.35799	0.650000	0.86243	CAC		0.393	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	0	NM_004525		2:170070176
SLITRK5	26050	broad.mit.edu	37	13	88327922	88327922	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:88327922G>T	ENST00000325089.6	+	2	498	c.279G>T	c.(277-279)ttG>ttT	p.L93F	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	93					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GAAACCTTTTGAACCGTCTCT	0.463																																						ENST00000325089.6		NA																	0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81						c.(277-279)ttG>ttT		SLIT and NTRK-like family, member 5							159.0	165.0	163.0					13																	88327922		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88327922G>T	AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.279G>T	13.37:g.88327922G>T	ENSP00000366283:p.Leu93Phe	True	False		Somatic	0				SLITRK5_ENST00000400028.3_Intron	p.L93F	NM_015567.1	NP_056382.1	WXS	Illumina HiSeq	Phase_I	O94991	SLIK5_HUMAN			2	498	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		93					B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.279G>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261554	0.39995	.	.	ENSG00000165300	ENST00000325089	T	0.60424	0.19	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000003	T	0.70029	0.3177	L	0.58925	1.835	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.68610	-0.5363	9	.	.	.	-7.6811	11.1672	0.48550	0.0829:0.0:0.9171:0.0	.	93	O94991	SLIK5_HUMAN	F	93	ENSP00000366283:L93F	.	L	+	3	2	SLITRK5	87125923	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.494000	0.35616	2.826000	0.97356	0.561000	0.74099	TTG		0.463	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3	0			13:88327922
GUF1	60558	broad.mit.edu	37	4	44693722	44693722	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:44693722C>A	ENST00000281543.5	+	13	1713	c.1519C>A	c.(1519-1521)Caa>Aaa	p.Q507K	RP11-700J17.1_ENST00000610260.1_RNA|GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						ATTTATTGATCAAAATAGAGT	0.318																																						ENST00000281543.5		NA																	0				breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						c.(1519-1521)Caa>Aaa		GUF1 GTPase homolog (S. cerevisiae)							91.0	103.0	99.0					4																	44693722		2200	4279	6479	SO:0001583	missense	60558				translation	mitochondrial inner membrane	GTP binding|GTPase activity	g.chr4:44693722C>A		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1519C>A	4.37:g.44693722C>A	ENSP00000281543:p.Gln507Lys	True	False		Somatic	0				GUF1_ENST00000506793.1_3'UTR	p.Q507K	NM_021927.2	NP_068746.2	WXS	Illumina HiSeq	Phase_I	Q8N442	GUF1_HUMAN			13	1713	+			507						Missense_Mutation	SNP	ENST00000281543.5	37	c.1519C>A	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876613	0.33162	.	.	ENSG00000151806	ENST00000281543	T	0.62105	0.05	5.11	2.31	0.28768	Elongation factor G/III/V (1);Translation elongation factor EFG/EF2, C-terminal (3);	0.289069	0.37348	N	0.002131	T	0.47948	0.1473	N	0.17278	0.47	0.26066	N	0.981284	B	0.19331	0.035	B	0.21151	0.033	T	0.35400	-0.9790	10	0.42905	T	0.14	-3.6133	17.6166	0.88069	0.0:0.3381:0.6619:0.0	.	507	Q8N442	GUF1_HUMAN	K	507	ENSP00000281543:Q507K	ENSP00000281543:Q507K	Q	+	1	0	GUF1	44388479	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.451000	0.66632	0.218000	0.20820	-0.165000	0.13383	CAA		0.318	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	0	NM_021927		4:44693722
RGS13	6003	broad.mit.edu	37	1	192627387	192627387	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:192627387C>A	ENST00000391995.2	+	6	472	c.184C>A	c.(184-186)Caa>Aaa	p.Q62K	RGS13_ENST00000482095.1_3'UTR|RGS13_ENST00000543215.1_Missense_Mutation_p.Q62K	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	62	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						CGAGAATATTCAATTCTGGAT	0.383																																						ENST00000391995.2		NA																	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						c.(184-186)Caa>Aaa		regulator of G-protein signaling 13							85.0	85.0	85.0					1																	192627387		2203	4300	6503	SO:0001583	missense	6003					plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192627387C>A	AF030107	CCDS1376.1	1q31.2	2008-02-05	2007-08-14		ENSG00000127074	ENSG00000127074		"""Regulators of G-protein signaling"""	9995	protein-coding gene	gene with protein product		607190	"""regulator of G-protein signalling 13"""			11875076	Standard	NM_144766		Approved		uc001gsk.3	O14921	OTTHUMG00000035601	ENST00000391995.2:c.184C>A	1.37:g.192627387C>A	ENSP00000375853:p.Gln62Lys	False	False		Somatic	0				RGS13_ENST00000543215.1_Missense_Mutation_p.Q62K|RGS13_ENST00000482095.1_3'UTR	p.Q62K	NM_002927.4	NP_002918.1	WXS	Illumina HiSeq	Phase_I	O14921	RGS13_HUMAN			6	472	+			62			RGS.		Q6PGR2|Q8TD63|Q9BX45	Missense_Mutation	SNP	ENST00000391995.2	37	c.184C>A	CCDS1376.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.291914	0.40594	.	.	ENSG00000127074	ENST00000391995;ENST00000543215	T;T	0.01871	4.59;4.59	5.88	0.446	0.16602	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);Regulator of G-protein signaling, domain 1 (1);	0.251398	0.46758	N	0.000278	T	0.01092	0.0036	N	0.03177	-0.4	0.30253	N	0.79391	B	0.02656	0.0	B	0.10450	0.005	T	0.38023	-0.9680	10	0.38643	T	0.18	.	6.0463	0.19762	0.415:0.4318:0.1532:0.0	.	62	O14921	RGS13_HUMAN	K	62	ENSP00000375853:Q62K;ENSP00000442837:Q62K	ENSP00000375853:Q62K	Q	+	1	0	RGS13	190894010	1.000000	0.71417	0.993000	0.49108	0.950000	0.60333	1.591000	0.36665	0.108000	0.17862	-0.425000	0.05940	CAA		0.383	RGS13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086400.1	0	NM_002927		1:192627387
NAE1	8883	broad.mit.edu	37	16	66842917	66842917	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:66842917C>A	ENST00000290810.3	-	16	1309	c.1212G>T	c.(1210-1212)ttG>ttT	p.L404F	NAE1_ENST00000394074.2_Missense_Mutation_p.L315F|NAE1_ENST00000379463.2_Missense_Mutation_p.L398F|NAE1_ENST00000359087.4_Missense_Mutation_p.L407F			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	404					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TAATTGTATCCAAACCATATT	0.308																																						ENST00000379463.2		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1192-1194)ttG>ttT		NEDD8 activating enzyme E1 subunit 1	Adenosine triphosphate(DB00171)						88.0	83.0	84.0					16																	66842917		2200	4300	6500	SO:0001583	missense	8883				apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity	g.chr16:66842917C>A	U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1212G>T	16.37:g.66842917C>A	ENSP00000290810:p.Leu404Phe	True	False		Somatic	0				NAE1_ENST00000359087.4_Missense_Mutation_p.L407F|NAE1_ENST00000394074.2_Missense_Mutation_p.L315F|NAE1_ENST00000290810.3_Missense_Mutation_p.L404F	p.L398F	NM_001018159.1	NP_001018169.1	WXS	Illumina HiSeq	Phase_I	Q13564	ULA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	17	1386	-		Ovarian(137;0.0563)	404					A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	37	c.1194G>T	CCDS10820.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.753914	0.31046	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.14	3.2	0.36748	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.074073	0.56097	D	0.000034	T	0.31482	0.0798	N	0.25647	0.755	0.48975	D	0.999734	B;B;B	0.25609	0.002;0.065;0.13	B;B;B	0.23716	0.004;0.041;0.048	T	0.13791	-1.0496	10	0.51188	T	0.08	-11.51	7.5134	0.27587	0.0:0.7108:0.0:0.2892	.	407;404;398	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	F	407;404;398;315	ENSP00000351990:L407F;ENSP00000290810:L404F;ENSP00000368776:L398F;ENSP00000377637:L315F	ENSP00000290810:L404F	L	-	3	2	NAE1	65400418	0.997000	0.39634	0.983000	0.44433	0.906000	0.53458	0.839000	0.27586	1.167000	0.42706	0.650000	0.86243	TTG		0.308	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	0	NM_003905		16:66842917
ZC2HC1A	51101	broad.mit.edu	37	8	79590841	79590841	+	Missense_Mutation	SNP	G	G	T	rs201638521		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:79590841G>T	ENST00000263849.4	+	3	239	c.137G>T	c.(136-138)cGg>cTg	p.R46L	ZC2HC1A_ENST00000521176.1_3'UTR	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	46							metal ion binding (GO:0046872)										ACTAAAAAACGGAAGACTTTT	0.368																																						ENST00000263849.4		NA																	0					NA						c.(136-138)cGg>cTg		zinc finger, C2HC-type containing 1A							125.0	133.0	130.0					8																	79590841		2203	4300	6503	SO:0001583	missense	51101							g.chr8:79590841G>T		CCDS6223.1	8q21.11	2013-01-10	2012-02-03	2012-02-03	ENSG00000104427	ENSG00000104427		"""Zinc fingers, C2HC-type containing"""	24277	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 70"", ""family with sequence similarity 164, member A"""	C8orf70, FAM164A		10810093	Standard	NM_016010		Approved	CGI-62	uc003ybd.3	Q96GY0	OTTHUMG00000164619	ENST00000263849.4:c.137G>T	8.37:g.79590841G>T	ENSP00000263849:p.Arg46Leu	False	False		Somatic	0				ZC2HC1A_ENST00000521176.1_3'UTR	p.R46L	NM_016010.2	NP_057094.2	WXS	Illumina HiSeq	Phase_I	Q96GY0	F164A_HUMAN			3	239	+			46					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.137G>T	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329823	0.95733	.	.	ENSG00000104427	ENST00000263849	T	0.60040	0.22	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.83372	0.5240	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86618	0.1877	9	.	.	.	-10.7436	19.8459	0.96707	0.0:0.0:1.0:0.0	.	46	Q96GY0	F164A_HUMAN	L	46	ENSP00000263849:R46L	.	R	+	2	0	FAM164A	79753396	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.144000	0.94629	2.788000	0.95919	0.585000	0.79938	CGG		0.368	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	0	NM_016010		8:79590841
SLC9C1	285335	broad.mit.edu	37	3	111996678	111996678	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:111996678C>A	ENST00000305815.5	-	5	600	c.348G>T	c.(346-348)ttG>ttT	p.L116F	SLC9C1_ENST00000487372.1_Missense_Mutation_p.L116F|SLC9C1_ENST00000467397.1_5'Flank	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	116					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TATAATTAACCAAAAAGCCGG	0.313																																						ENST00000305815.5		NA																	0					NA						c.(346-348)ttG>ttT		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							54.0	61.0	58.0					3																	111996678		2197	4298	6495	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111996678C>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.348G>T	3.37:g.111996678C>A	ENSP00000306627:p.Leu116Phe	True	False		Somatic	0				SLC9C1_ENST00000487372.1_Missense_Mutation_p.L116F	p.L116F	NM_183061.1	NP_898884.1	WXS	Illumina HiSeq	Phase_I	Q4G0N8	S9A10_HUMAN			5	600	-			116					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.348G>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	1.082	-0.666749	0.03428	.	.	ENSG00000172139	ENST00000305815;ENST00000487372;ENST00000486574	T;T;T	0.03004	4.08;4.08;4.08	5.13	-7.8	0.01214	Cation/H+ exchanger (1);	1.635720	0.03751	N	0.256565	T	0.02304	0.0071	L	0.27053	0.805	0.09310	N	1	B;B	0.15141	0.012;0.005	B;B	0.16289	0.015;0.011	T	0.43475	-0.9389	10	0.38643	T	0.18	.	0.9292	0.01331	0.4377:0.1391:0.1927:0.2305	.	116;116	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	F	116;116;43	ENSP00000306627:L116F;ENSP00000420688:L116F;ENSP00000417274:L43F	ENSP00000306627:L116F	L	-	3	2	SLC9A10	113479368	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.968000	0.00669	-1.204000	0.02648	-1.513000	0.00942	TTG		0.313	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	0	NM_183061		3:111996678
SYCP1	6847	broad.mit.edu	37	1	115455754	115455754	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:115455754C>A	ENST00000369522.3	+	19	1870	c.1630C>A	c.(1630-1632)Cag>Aag	p.Q544K	SYCP1_ENST00000369518.1_Missense_Mutation_p.Q544K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	544					chiasma assembly (GO:0051026)|lateral element assembly (GO:0051878)|meiotic DNA repair synthesis (GO:0000711)|reciprocal meiotic recombination (GO:0007131)|regulation of protein localization (GO:0032880)|sperm chromatin condensation (GO:0035092)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)|male germ cell nucleus (GO:0001673)|transverse filament (GO:0000802)	DNA binding (GO:0003677)		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTCAAGAATCAGCAAGAAGA	0.368																																						ENST00000369522.3		NA																RGS22/SYCP1(2)	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1630-1632)Cag>Aag		synaptonemal complex protein 1							102.0	109.0	107.0					1																	115455754		2203	4298	6501	SO:0001583	missense	6847				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	g.chr1:115455754C>A	D67035	CCDS879.1, CCDS72840.1	1p13-p12	2009-03-12			ENSG00000198765	ENSG00000198765			11487	protein-coding gene	gene with protein product	"""cancer/testis antigen 8"""	602162				9560255	Standard	XM_005271154		Approved	HOM-TES-14, SCP1, CT8	uc001efr.3	Q15431	OTTHUMG00000012057	ENST00000369522.3:c.1630C>A	1.37:g.115455754C>A	ENSP00000358535:p.Gln544Lys	False	False		Somatic	0				SYCP1_ENST00000369518.1_Missense_Mutation_p.Q544K	p.Q544K	NM_003176.2	NP_003167.2	WXS	Illumina HiSeq	Phase_I	Q15431	SYCP1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	19	1870	+	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)	544					O14963|Q5VXJ6	Missense_Mutation	SNP	ENST00000369522.3	37	c.1630C>A	CCDS879.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513309	0.27123	.	.	ENSG00000198765	ENST00000369522;ENST00000536734;ENST00000455987;ENST00000369518	T;T;T	0.42900	0.96;0.96;0.96	5.34	4.42	0.53409	.	0.643340	0.15076	N	0.281944	T	0.16041	0.0386	L	0.36672	1.1	0.20926	N	0.99982	B;B	0.23128	0.08;0.08	B;B	0.23018	0.043;0.043	T	0.04191	-1.0970	10	0.27785	T	0.31	1.0825	10.3177	0.43747	0.0:0.9063:0.0:0.0937	.	544;544	B7ZLS9;Q15431	.;SYCP1_HUMAN	K	544	ENSP00000358535:Q544K;ENSP00000410011:Q544K;ENSP00000358531:Q544K	ENSP00000358531:Q544K	Q	+	1	0	SYCP1	115257277	0.525000	0.26290	1.000000	0.80357	0.739000	0.42172	1.046000	0.30354	2.476000	0.83614	0.655000	0.94253	CAG		0.368	SYCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033386.1	0	NM_003176		1:115455754
RGS12	6002	broad.mit.edu	37	4	3419185	3419185	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:3419185G>T	ENST00000344733.5	+	9	3582	c.2678G>T	c.(2677-2679)cGg>cTg	p.R893L	RGS12_ENST00000338806.4_Missense_Mutation_p.R245L|RGS12_ENST00000336727.3_Missense_Mutation_p.R893L|RGS12_ENST00000382788.3_Missense_Mutation_p.R893L|RGS12_ENST00000306648.7_Missense_Mutation_p.R291L|RGS12_ENST00000538395.1_Missense_Mutation_p.R235L|RGS12_ENST00000508158.1_3'UTR	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	893					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGAAGAAGCGGAAAGGCGCG	0.552																																						ENST00000336727.3		NA																	0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2677-2679)cGg>cTg		regulator of G-protein signaling 12							55.0	57.0	56.0					4																	3419185		2203	4300	6503	SO:0001583	missense	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3419185G>T	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2678G>T	4.37:g.3419185G>T	ENSP00000339381:p.Arg893Leu	False	False		Somatic	0				RGS12_ENST00000306648.7_Missense_Mutation_p.R291L|RGS12_ENST00000538395.1_Missense_Mutation_p.R235L|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.R893L|RGS12_ENST00000338806.4_Missense_Mutation_p.R245L|RGS12_ENST00000344733.5_Missense_Mutation_p.R893L	p.R893L	NM_002926.3	NP_002917.1	WXS	Illumina HiSeq	Phase_I	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	9	3582	+			893					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Missense_Mutation	SNP	ENST00000344733.5	37	c.2678G>T	CCDS3366.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.440438	0.43326	.	.	ENSG00000159788	ENST00000344733;ENST00000336727;ENST00000382788;ENST00000306648;ENST00000338806;ENST00000538395	T;T;T;T;T;T	0.37235	1.49;1.49;1.49;1.21;1.23;1.26	4.34	4.34	0.51931	.	0.065361	0.64402	D	0.000019	T	0.49508	0.1561	M	0.65975	2.015	0.09310	N	0.999992	P;D;P;D;D;B;P;D;P	0.60575	0.896;0.988;0.802;0.988;0.977;0.393;0.896;0.968;0.937	P;P;P;P;D;B;P;P;P	0.63703	0.604;0.724;0.483;0.724;0.917;0.169;0.676;0.734;0.822	T	0.39418	-0.9615	10	0.42905	T	0.14	-19.7633	6.3948	0.21607	0.2155:0.0:0.7845:0.0	.	235;92;235;92;235;245;291;893;893	B7Z764;B3KVS7;B7Z8B8;A8K440;O14924-2;O14924-3;Q8WX95;O14924;O14924-4	.;.;.;.;.;.;.;RGS12_HUMAN;.	L	893;893;893;291;245;235	ENSP00000339381:R893L;ENSP00000338509:R893L;ENSP00000372238:R893L;ENSP00000304459:R291L;ENSP00000342133:R245L;ENSP00000438888:R235L	ENSP00000304459:R291L	R	+	2	0	RGS12	3388983	0.980000	0.34600	0.041000	0.18516	0.357000	0.29423	4.395000	0.59678	1.982000	0.57802	0.563000	0.77884	CGG		0.552	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	0	NM_002926		4:3419185
RBM12B	389677	broad.mit.edu	37	8	94745981	94745981	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:94745981C>A	ENST00000399300.2	-	3	2871	c.2658G>T	c.(2656-2658)gtG>gtT	p.V886V	RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Silent_p.V766V	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	886							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GACCAAAATTCACAAAAGGGC	0.448																																						ENST00000399300.2		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(2656-2658)gtG>gtT		RNA binding motif protein 12B							158.0	161.0	160.0					8																	94745981		1799	4068	5867	SO:0001819	synonymous_variant	389677						nucleotide binding|RNA binding	g.chr8:94745981C>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2658G>T	8.37:g.94745981C>A		False	False		Somatic	0				RBM12B_ENST00000517700.1_Silent_p.V766V|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	p.V886V	NM_203390.2	NP_976324.2	WXS	Illumina HiSeq	Phase_I	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2871	-	Breast(36;4.14e-07)		886					A8MYB5	Silent	SNP	ENST00000399300.2	37	c.2658G>T	CCDS43755.1																																																																																				0.448	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	0	NM_203390		8:94745981
TIMM21	29090	broad.mit.edu	37	18	71822391	71822391	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr18:71822391G>T	ENST00000169551.6	+	2	611	c.313G>T	c.(313-315)Gga>Tga	p.G105*	TIMM21_ENST00000580087.1_Nonsense_Mutation_p.G105*	NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	105					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)											GAAAGAAGCCGGAAGAGATTT	0.428																																						ENST00000580087.1		NA																	0					NA						c.(313-315)Gga>Tga		translocase of inner mitochondrial membrane 21 homolog (yeast)							97.0	104.0	102.0					18																	71822391		2203	4300	6503	SO:0001587	stop_gained	29090				protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		g.chr18:71822391G>T	BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"""chromosome 18 open reading frame 55"""	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.313G>T	18.37:g.71822391G>T	ENSP00000169551:p.Gly105*	False	False		Somatic	0				TIMM21_ENST00000169551.6_Nonsense_Mutation_p.G105*	p.G105*			WXS	Illumina HiSeq	Phase_I	Q9BVV7	TI21L_HUMAN			2	599	+			105					Q9P010	Nonsense_Mutation	SNP	ENST00000169551.6	37	c.313G>T	CCDS12003.1	.	.	.	.	.	.	.	.	.	.	G	40	8.413223	0.98801	.	.	ENSG00000075336	ENST00000169551	.	.	.	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-28.1893	18.8678	0.92300	0.0:0.0:1.0:0.0	.	.	.	.	X	105	.	ENSP00000169551:G105X	G	+	1	0	C18orf55	69973371	1.000000	0.71417	0.983000	0.44433	0.944000	0.59088	9.260000	0.95568	2.532000	0.85374	0.650000	0.86243	GGA		0.428	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	0	NM_014177		18:71822391
SPAG17	200162	broad.mit.edu	37	1	118616493	118616493	+	Missense_Mutation	SNP	G	G	T	rs146282295		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:118616493G>T	ENST00000336338.5	-	17	2434	c.2369C>A	c.(2368-2370)cCg>cAg	p.P790Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	790						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CAGTACTTTCGGTTTAAAATG	0.428																																						ENST00000336338.5		NA																	0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(2368-2370)cCg>cAg		sperm associated antigen 17							164.0	156.0	159.0					1																	118616493		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118616493G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2369C>A	1.37:g.118616493G>T	ENSP00000337804:p.Pro790Gln	False	False		Somatic	0					p.P790Q	NM_206996.2	NP_996879.1	WXS	Illumina HiSeq	Phase_I	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	17	2434	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	790					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2369C>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828388	0.71143	.	.	ENSG00000155761	ENST00000336338	T	0.28454	1.61	5.35	5.35	0.76521	.	0.100758	0.64402	D	0.000001	T	0.50871	0.1641	M	0.71581	2.175	0.37958	D	0.932887	D	0.89917	1.0	D	0.91635	0.999	T	0.54275	-0.8318	10	0.72032	D	0.01	.	19.4213	0.94723	0.0:0.0:1.0:0.0	.	790	Q6Q759	SPG17_HUMAN	Q	790	ENSP00000337804:P790Q	ENSP00000337804:P790Q	P	-	2	0	SPAG17	118418016	1.000000	0.71417	0.954000	0.39281	0.901000	0.52897	5.245000	0.65405	2.669000	0.90835	0.650000	0.86243	CCG		0.428	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	0	NM_206996		1:118616493
OSER1	51526	broad.mit.edu	37	20	42835547	42835547	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:42835547G>T	ENST00000372970.2	-	4	231	c.51C>A	c.(49-51)ttC>ttA	p.F17L	OSER1_ENST00000255174.2_Missense_Mutation_p.F17L			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	17					cellular response to hydrogen peroxide (GO:0070301)												TTAATTTTTTGAAAGCAGTCT	0.323																																						ENST00000372970.2		NA																	0					NA						c.(49-51)ttC>ttA		oxidative stress responsive serine-rich 1							101.0	93.0	96.0					20																	42835547		2203	4300	6503	SO:0001583	missense	51526							g.chr20:42835547G>T	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"""peroxide-inducible transcript 1"", ""oxidative stress-responsive 1"""		"""chromosome 20 open reading frame 111"""	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.51C>A	20.37:g.42835547G>T	ENSP00000362061:p.Phe17Leu	True	False		Somatic	0				OSER1_ENST00000255174.2_Missense_Mutation_p.F17L	p.F17L			WXS	Illumina HiSeq	Phase_I					4	231	-			NA					B2RCK4|O95912|Q9NZ84|Q9P0R8	Missense_Mutation	SNP	ENST00000372970.2	37	c.51C>A	CCDS13327.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295360	0.81025	.	.	ENSG00000132823	ENST00000255174;ENST00000372970	T;T	0.61392	0.11;0.11	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.70116	0.3187	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71427	-0.4596	10	0.87932	D	0	-16.4206	13.2149	0.59854	0.073:0.0:0.927:0.0	.	17	Q9NX31	CT111_HUMAN	L	17	ENSP00000255174:F17L;ENSP00000362061:F17L	ENSP00000255174:F17L	F	-	3	2	C20orf111	42268961	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.742000	0.55097	2.802000	0.96397	0.650000	0.86243	TTC		0.323	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	0	NM_016470		20:42835547
EXOC2	55770	broad.mit.edu	37	6	549213	549213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:549213C>A	ENST00000230449.4	-	22	2335	c.2200G>T	c.(2200-2202)Gaa>Taa	p.E734*	EXOC2_ENST00000448181.3_Nonsense_Mutation_p.E329*	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	734					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTGTGCTTTTCAAAATGTTCT	0.388																																						ENST00000230449.4		NA																	0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46						c.(2200-2202)Gaa>Taa		exocyst complex component 2							207.0	197.0	201.0					6																	549213		2203	4300	6503	SO:0001587	stop_gained	55770				exocytosis|protein transport			g.chr6:549213C>A	AJ420556	CCDS34327.1	6p25.3	2013-01-22	2005-11-01	2005-11-01	ENSG00000112685	ENSG00000112685			24968	protein-coding gene	gene with protein product		615329	"""SEC5-like 1 (S. cerevisiae)"""	SEC5L1		12575951, 12459492	Standard	NM_018303		Approved	FLJ11026, Sec5p	uc003mtd.4	Q96KP1	OTTHUMG00000137437	ENST00000230449.4:c.2200G>T	6.37:g.549213C>A	ENSP00000230449:p.Glu734*	True	False		Somatic	0				EXOC2_ENST00000448181.3_Nonsense_Mutation_p.E329*	p.E734*	NM_018303.4	NP_060773.3	WXS	Illumina HiSeq	Phase_I	Q96KP1	EXOC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)	22	2335	-	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)	734					B2RBE6|Q5JPC8|Q96AN6|Q9NUZ8|Q9UJM7	Nonsense_Mutation	SNP	ENST00000230449.4	37	c.2200G>T	CCDS34327.1	.	.	.	.	.	.	.	.	.	.	C	41	9.092450	0.99062	.	.	ENSG00000112685	ENST00000230449;ENST00000448181	.	.	.	5.41	5.41	0.78517	.	0.047763	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-11.731	19.1915	0.93669	0.0:1.0:0.0:0.0	.	.	.	.	X	734;329	.	ENSP00000230449:E734X	E	-	1	0	EXOC2	494213	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.004000	0.76317	2.515000	0.84797	0.655000	0.94253	GAA		0.388	EXOC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039627.1	0	NM_018303		6:549213
SENP6	26054	broad.mit.edu	37	6	76425185	76425185	+	Silent	SNP	C	C	A	rs184895201		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:76425185C>A	ENST00000447266.2	+	24	3692	c.3214C>A	c.(3214-3216)Cga>Aga	p.R1072R	SENP6_ENST00000370014.3_Silent_p.R1072R|SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Silent_p.R1065R	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	1072	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGAAGAAATCCGAAACATAAT	0.368													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18477	0.0		0.0	False		,,,				2504	0.0					ENST00000370014.3		NA																	0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3214-3216)Cga>Aga		SUMO1/sentrin specific peptidase 6							125.0	118.0	120.0					6																	76425185		1842	4091	5933	SO:0001819	synonymous_variant	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76425185C>A		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.3214C>A	6.37:g.76425185C>A		False	False		Somatic	0				SENP6_ENST00000447266.2_Silent_p.R1072R|SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Silent_p.R1065R	p.R1072R	NM_001100409.1	NP_001093879.1	WXS	Illumina HiSeq	Phase_I	Q9GZR1	SENP6_HUMAN			24	3833	+		all_hematologic(105;0.189)	1072			Protease.		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	ENST00000447266.2	37	c.3214C>A	CCDS47454.1																																																																																				0.368	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	0	NM_015571		6:76425185
CSMD3	114788	broad.mit.edu	37	8	113256691	113256691	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:113256691G>A	ENST00000297405.5	-	65	10578	c.10334C>T	c.(10333-10335)gCa>gTa	p.A3445V	CSMD3_ENST00000455883.2_Missense_Mutation_p.A3276V|CSMD3_ENST00000343508.3_Missense_Mutation_p.A3405V|CSMD3_ENST00000352409.3_Missense_Mutation_p.A3375V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3445	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A3445V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTTCCACCTGCTAAGAAGAA	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5		NA																	1	Substitution - Missense(1)	p.A3445V(1)	large_intestine(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(10333-10335)gCa>gTa		CUB and Sushi multiple domains 3							132.0	116.0	121.0					8																	113256691		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113256691G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10334C>T	8.37:g.113256691G>A	ENSP00000297405:p.Ala3445Val	False	False	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)	Somatic	0				CSMD3_ENST00000352409.3_Missense_Mutation_p.A3375V|CSMD3_ENST00000343508.3_Missense_Mutation_p.A3405V|CSMD3_ENST00000455883.2_Missense_Mutation_p.A3276V	p.A3445V	NM_198123.1	NP_937756.1	WXS	Illumina HiSeq	Phase_I	Q7Z407	CSMD3_HUMAN			65	10578	-			3445			Sushi 28.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.10334C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522882	0.85600	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03	5.37	4.5	0.54988	Complement control module (2);Sushi/SCR/CCP (3);	0.171297	0.39615	N	0.001317	T	0.55800	0.1943	N	0.10618	0.005	0.43896	D	0.996523	P;P;D	0.58970	0.532;0.65;0.984	B;B;P	0.59171	0.356;0.428;0.853	T	0.56768	-0.7924	10	0.25106	T	0.35	.	14.1728	0.65522	0.0714:0.0:0.9286:0.0	.	3276;3445;3405	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	3405;3445;2715;3276;3375	ENSP00000345799:A3405V;ENSP00000297405:A3445V;ENSP00000341558:A2715V;ENSP00000412263:A3276V;ENSP00000343124:A3375V	ENSP00000297405:A3445V	A	-	2	0	CSMD3	113325867	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	7.554000	0.82212	1.508000	0.48769	-0.229000	0.12294	GCA		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	0	NM_052900		8:113256691
MS4A5	64232	broad.mit.edu	37	11	60197150	60197150	+	Start_Codon_SNP	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:60197150G>T	ENST00000300190.2	+	1	89	c.3G>T	c.(1-3)atG>atT	p.M1I	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	1						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						ACACCATCATGGATTCAAGCA	0.448																																						ENST00000300190.2		NA																	0				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						c.(1-3)atG>atT		membrane-spanning 4-domains, subfamily A, member 5							111.0	110.0	111.0					11																	60197150		2203	4300	6503	SO:0001582	initiator_codon_variant	64232					integral to membrane	receptor activity	g.chr11:60197150G>T	AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.3G>T	11.37:g.60197150G>T	ENSP00000300190:p.Met1Ile	False	False		Somatic	0				MS4A5_ENST00000534071.1_3'UTR	p.M1I	NM_023945.2	NP_076434.2	WXS	Illumina HiSeq	Phase_I	Q9H3V2	MS4A5_HUMAN			1	89	+			1					Q9BZH1	Translation_Start_Site	SNP	ENST00000300190.2	37	c.3G>T	CCDS7987.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150767	0.57151	.	.	ENSG00000166930	ENST00000300190	T	0.10573	2.86	4.66	4.66	0.58398	.	0.922269	0.09352	N	0.814023	T	0.33731	0.0873	.	.	.	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.00726	-1.1592	9	0.72032	D	0.01	-20.1452	13.2445	0.60016	0.0:0.0:1.0:0.0	.	1	Q9H3V2	MS4A5_HUMAN	I	1	ENSP00000300190:M1I	ENSP00000300190:M1I	M	+	3	0	MS4A5	59953726	0.997000	0.39634	0.954000	0.39281	0.540000	0.34992	3.950000	0.56676	2.578000	0.87016	0.467000	0.42956	ATG		0.448	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395392.1	0		Missense_Mutation	11:60197150
FPR3	2359	broad.mit.edu	37	19	52327944	52327944	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:52327944C>A	ENST00000339223.4	+	2	1122	c.943C>A	c.(943-945)Cgc>Agc	p.R315S	FPR3_ENST00000595991.1_Missense_Mutation_p.R315S	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	315					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)	p.R315C(1)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						AAGACTGATTCGCTCTTTGCC	0.507																																						ENST00000339223.4		NA																	1	Substitution - Missense(1)	p.R315C(1)	large_intestine(1)	NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(943-945)Cgc>Agc		formyl peptide receptor 3							108.0	102.0	104.0					19																	52327944		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327944C>A		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.943C>A	19.37:g.52327944C>A	ENSP00000341821:p.Arg315Ser	False	False		Somatic	0				FPR3_ENST00000595991.1_Missense_Mutation_p.R315S	p.R315S	NM_002030.3	NP_002021.3	WXS	Illumina HiSeq	Phase_I	P25089	FPR3_HUMAN			2	1122	+			315						Missense_Mutation	SNP	ENST00000339223.4	37	c.943C>A	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	9.235	1.036746	0.19669	.	.	ENSG00000187474	ENST00000339223	T	0.39056	1.1	2.34	-0.267	0.12938	.	0.422186	0.21077	N	0.080555	T	0.26304	0.0642	L	0.39898	1.24	0.22213	N	0.999285	P	0.39748	0.686	B	0.39935	0.314	T	0.08027	-1.0742	10	0.26408	T	0.33	.	2.8854	0.05660	0.4068:0.4264:0.0:0.1667	.	315	P25089	FPR3_HUMAN	S	315	ENSP00000341821:R315S	ENSP00000341821:R315S	R	+	1	0	FPR3	57019756	0.000000	0.05858	0.135000	0.22099	0.304000	0.27724	0.024000	0.13555	0.322000	0.23283	0.305000	0.20034	CGC		0.507	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	0	NM_002030		19:52327944
CATSPER4	378807	broad.mit.edu	37	1	26524785	26524785	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:26524785C>A	ENST00000456354.2	+	6	754	c.687C>A	c.(685-687)tcC>tcA	p.S229S		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	229					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.S229S(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTTTTTTCCGTGTTTGGAG	0.493																																						ENST00000456354.2		NA																	1	Substitution - coding silent(1)	p.S229S(1)	lung(1)	NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27						c.(685-687)tcC>tcA		cation channel, sperm associated 4							290.0	303.0	298.0					1																	26524785		2203	4300	6503	SO:0001819	synonymous_variant	378807				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr1:26524785C>A	BN000273	CCDS30645.1	1p35.3	2011-07-05			ENSG00000188782	ENSG00000188782		"""Voltage-gated ion channels / Cation channels, sperm associated"""	23220	protein-coding gene	gene with protein product		609121				12932298, 17227845, 16382101	Standard	NM_198137		Approved		uc010oez.2	Q7RTX7	OTTHUMG00000003383	ENST00000456354.2:c.687C>A	1.37:g.26524785C>A		False	False		Somatic	0					p.S229S	NM_198137.1	NP_937770.1	WXS	Illumina HiSeq	Phase_I	Q7RTX7	CTSR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)	6	754	+		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)	229					A1A4W6|Q5VY71	Silent	SNP	ENST00000456354.2	37	c.687C>A	CCDS30645.1																																																																																				0.493	CATSPER4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019849.2	0	NM_198137		1:26524785
MVB12B	89853	broad.mit.edu	37	9	129154466	129154466	+	Silent	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:129154466G>A	ENST00000361171.3	+	5	612	c.531G>A	c.(529-531)acG>acA	p.T177T	MVB12B_ENST00000545391.1_Silent_p.T177T|MVB12B_ENST00000535766.1_Silent_p.T170T|MVB12B_ENST00000436593.3_Silent_p.T162T	NM_033446.2	NP_258257.1	Q9H7P6	MB12B_HUMAN	multivesicular body subunit 12B	177	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				protein transport (GO:0015031)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytosol (GO:0005829)|early endosome (GO:0005769)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	lipid binding (GO:0008289)										CTCAGTACACGTTTATTGGGT	0.512																																						ENST00000361171.3		NA																	0					NA						c.(529-531)acG>acA		multivesicular body subunit 12B							86.0	90.0	89.0					9																	129154466		2203	4300	6503	SO:0001819	synonymous_variant	89853							g.chr9:129154466G>A	AK000001	CCDS35142.1	9q34.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000196814	ENSG00000196814			23368	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 28"", ""family with sequence similarity 125, member B"""	C9orf28, FAM125B		18005716, 20654576, 22232651	Standard	NM_033446		Approved	FLJ00001	uc004bqh.2	Q9H7P6	OTTHUMG00000020687	ENST00000361171.3:c.531G>A	9.37:g.129154466G>A		True	False		Somatic	0				MVB12B_ENST00000535766.1_Silent_p.T170T|MVB12B_ENST00000545391.1_Silent_p.T177T|MVB12B_ENST00000436593.3_Silent_p.T162T	p.T177T	NM_033446.2	NP_258257.1	WXS	Illumina HiSeq	Phase_I					5	612	+			NA					Q8N6S7	Silent	SNP	ENST00000361171.3	37	c.531G>A	CCDS35142.1																																																																																				0.512	MVB12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054110.1	0	XM_088525		9:129154466
UGT1A1	54658	broad.mit.edu	37	2	234526363	234526363	+	Missense_Mutation	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:234526363A>G	ENST00000373450.4	+	1	73	c.10A>G	c.(10-12)Aca>Gca	p.T4A		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	0					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)	p.T4A(3)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	CATGGCTCGCACAGGGTGGAC	0.562																																						ENST00000373450.4		NA																	3	Substitution - Missense(3)	p.T4A(3)	prostate(1)|lung(1)|kidney(1)	breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30						c.(10-12)Aca>Gca									61.0	53.0	56.0					2																	234526363		2203	4300	6503	SO:0001583	missense	0							g.chr2:234526363A>G	M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.10A>G	2.37:g.234526363A>G	ENSP00000362549:p.Thr4Ala	False	False		Somatic	0					p.T4A	NM_019076.4	NP_061949.3	WXS	Illumina HiSeq	Phase_I				Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	73	+		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)	NA					A6NJC3|B8K286	Missense_Mutation	SNP	ENST00000373450.4	37	c.10A>G	CCDS33402.1	.	.	.	.	.	.	.	.	.	.	A	1.349	-0.591910	0.03799	.	.	ENSG00000242366	ENST00000373450	T	0.57273	0.41	3.96	-1.46	0.08800	.	.	.	.	.	T	0.20577	0.0495	N	0.03115	-0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.27331	-1.0077	9	0.06891	T	0.86	.	5.6018	0.17357	0.3817:0.1909:0.4274:0.0	.	4;4	Q5DSZ6;Q9HAW9	.;UD18_HUMAN	A	4	ENSP00000362549:T4A	ENSP00000362549:T4A	T	+	1	0	UGT1A8	234191102	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.041000	0.13927	-0.096000	0.12329	-1.318000	0.01297	ACA		0.562	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1	0			2:234526363
SPCS1	28972	broad.mit.edu	37	3	52741760	52741760	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:52741760C>A	ENST00000602728.1	+	4	410	c.241C>A	c.(241-243)Caa>Aaa	p.Q81K	GLT8D1_ENST00000407584.3_5'Flank|GLT8D1_ENST00000491606.1_5'Flank|GLT8D1_ENST00000266014.5_5'Flank|GLT8D1_ENST00000478968.2_5'Flank|SPCS1_ENST00000423431.1_Missense_Mutation_p.Q59K|SPCS1_ENST00000233025.7_Missense_Mutation_p.Q148K			Q9Y6A9	SPCS1_HUMAN	signal peptidase complex subunit 1 homolog (S. cerevisiae)	81					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)|signal peptide processing (GO:0006465)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|signal peptidase complex (GO:0005787)	peptidase activity (GO:0008233)			kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6				BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)		GTTACCTGTTCAAGAATCAAG	0.413																																						ENST00000233025.7		NA																	0				kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6						c.(442-444)Caa>Aaa		signal peptidase complex subunit 1 homolog (S. cerevisiae)							123.0	126.0	125.0					3																	52741760		2203	4300	6503	SO:0001583	missense	28972				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to endoplasmic reticulum membrane|microsome|signal peptidase complex	peptidase activity	g.chr3:52741760C>A	AF092138	CCDS33769.2	3p21.31	2005-01-05			ENSG00000114902	ENSG00000114902			23401	protein-coding gene	gene with protein product		610358				8632014	Standard	NM_014041		Approved	SPC12, HSPC033, YJR010C-A, SPC1	uc011bei.2	Q9Y6A9	OTTHUMG00000154930	ENST00000602728.1:c.241C>A	3.37:g.52741760C>A	ENSP00000473265:p.Gln81Lys	False	False		Somatic	0				SPCS1_ENST00000423431.1_Missense_Mutation_p.Q59K|SPCS1_ENST00000602728.1_Missense_Mutation_p.Q81K	p.Q148K	NM_014041.3	NP_054760.3	WXS	Illumina HiSeq	Phase_I	Q9Y6A9	SPCS1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.51e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)|OV - Ovarian serous cystadenocarcinoma(275;0.0469)	4	852	+			148					B3KNF8|Q9BVW1	Missense_Mutation	SNP	ENST00000602728.1	37	c.442C>A		.	.	.	.	.	.	.	.	.	.	C	21.5	4.152679	0.78001	.	.	ENSG00000114902	ENST00000423431;ENST00000233025	.	.	.	5.57	5.57	0.84162	.	0.311639	0.35555	N	0.003130	T	0.43590	0.1254	N	0.24115	0.695	0.51012	D	0.9999	P	0.43542	0.81	B	0.40741	0.339	T	0.27839	-1.0062	9	0.29301	T	0.29	-17.6896	19.5486	0.95309	0.0:1.0:0.0:0.0	.	148	Q9Y6A9	SPCS1_HUMAN	K	59;148	.	ENSP00000233025:Q148K	Q	+	1	0	SPCS1	52716800	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.510000	0.73729	2.609000	0.88269	0.591000	0.81541	CAA		0.413	SPCS1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467759.1	0	NM_014041		3:52741760
TRIP10	9322	broad.mit.edu	37	19	6750327	6750327	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:6750327C>A	ENST00000313244.9	+	13	1455	c.1420C>A	c.(1420-1422)Cga>Aga	p.R474R	CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000600428.1_Silent_p.R310R|TRIP10_ENST00000596758.1_Silent_p.R418R|TRIP10_ENST00000313285.8_Silent_p.R418R			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	474	Interaction with CDC42.|Interaction with PDE6G. {ECO:0000250}.|Required for interaction with FASLG and localization to lysosomes.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)	p.R418G(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AGCTGAAAGTCGAGTCCTTAG	0.667																																						ENST00000600428.1		NA																	1	Substitution - Missense(1)	p.R418G(1)	breast(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.(928-930)Cga>Aga		thyroid hormone receptor interactor 10							55.0	64.0	61.0					19																	6750327		2203	4300	6503	SO:0001819	synonymous_variant	9322				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding	g.chr19:6750327C>A	AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.1420C>A	19.37:g.6750327C>A		False	False		Somatic	0				TRIP10_ENST00000313244.9_Silent_p.R474R|CTD-3128G10.6_ENST00000594056.1_RNA|TRIP10_ENST00000596758.1_Silent_p.R418R|TRIP10_ENST00000313285.8_Silent_p.R418R	p.R310R			WXS	Illumina HiSeq	Phase_I	Q15642	CIP4_HUMAN			12	1574	+			474	L -> P (in Ref. 2; AAK77492).		Interaction with CDC42.|Interaction with PDE6G (By similarity).		B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Silent	SNP	ENST00000313244.9	37	c.928C>A																																																																																					0.667	TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2	0			19:6750327
LY86	9450	broad.mit.edu	37	6	6625213	6625213	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:6625213C>A	ENST00000379953.2	+	3	543	c.191C>A	c.(190-192)tCa>tAa	p.S64*	LY86-AS1_ENST00000606044.1_RNA|LY86_ENST00000230568.4_Nonsense_Mutation_p.S64*|LY86-AS1_ENST00000435641.1_RNA|LY86-AS1_ENST00000607278.1_RNA|LY86-AS1_ENST00000429345.1_RNA			O95711	LY86_HUMAN	lymphocyte antigen 86	64					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				large_intestine(2)|lung(6)	8	Ovarian(93;0.0377)					CAATTAAAATCAAATATCAAC	0.313																																						ENST00000379953.2		NA																	0				large_intestine(2)|lung(6)	8						c.(190-192)tCa>tAa		lymphocyte antigen 86							66.0	62.0	64.0					6																	6625213		2189	4293	6482	SO:0001587	stop_gained	9450				apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response	extracellular space|plasma membrane		g.chr6:6625213C>A	AF057178	CCDS4498.1	6p24.3	2010-07-08			ENSG00000112799	ENSG00000112799			16837	protein-coding gene	gene with protein product		605241				9763566	Standard	NM_004271		Approved	MD-1, dJ80N2.1	uc003mwy.1	O95711	OTTHUMG00000014190	ENST00000379953.2:c.191C>A	6.37:g.6625213C>A	ENSP00000369286:p.Ser64*	True	False		Somatic	0				LY86_ENST00000230568.4_Nonsense_Mutation_p.S64*	p.S64*			WXS	Illumina HiSeq	Phase_I	O95711	LY86_HUMAN			3	543	+	Ovarian(93;0.0377)		64					Q9UQC4	Nonsense_Mutation	SNP	ENST00000379953.2	37	c.191C>A	CCDS4498.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432933	0.62844	.	.	ENSG00000112799	ENST00000379953;ENST00000230568	.	.	.	5.26	3.22	0.36961	.	1.944890	0.02311	N	0.072065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	4.3632	12.8308	0.57744	0.3071:0.6929:0.0:0.0	.	.	.	.	X	64	.	ENSP00000230568:S64X	S	+	2	0	LY86	6570212	0.001000	0.12720	0.017000	0.16124	0.635000	0.38103	0.857000	0.27831	1.177000	0.42855	0.655000	0.94253	TCA		0.313	LY86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039762.2	0			6:6625213
CEP120	153241	broad.mit.edu	37	5	122722255	122722255	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:122722255C>A	ENST00000306467.5	-	10	1841	c.1537G>T	c.(1537-1539)Gat>Tat	p.D513Y	CEP120_ENST00000306481.6_Missense_Mutation_p.D487Y|CEP120_ENST00000328236.5_Missense_Mutation_p.D513Y			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	513					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GTTGCAAAATCAAATGCACAG	0.348																																						ENST00000306467.5		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						c.(1537-1539)Gat>Tat		centrosomal protein 120kDa							62.0	60.0	61.0					5																	122722255		2203	4300	6503	SO:0001583	missense	153241					centrosome		g.chr5:122722255C>A	AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.1537G>T	5.37:g.122722255C>A	ENSP00000303058:p.Asp513Tyr	True	False		Somatic	0				CEP120_ENST00000306481.6_Missense_Mutation_p.D487Y|CEP120_ENST00000328236.5_Missense_Mutation_p.D513Y	p.D513Y			WXS	Illumina HiSeq	Phase_I	Q8N960	CE120_HUMAN			10	1841	-			513					Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	ENST00000306467.5	37	c.1537G>T	CCDS4134.2	.	.	.	.	.	.	.	.	.	.	C	24.4	4.530289	0.85706	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.51574	2.03;2.03;2.03;0.7	5.97	5.97	0.96955	.	0.102761	0.64402	D	0.000005	T	0.65595	0.2706	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	P	0.59221	0.854	T	0.63545	-0.6613	10	0.49607	T	0.09	-25.1905	20.0428	0.97598	0.0:1.0:0.0:0.0	.	513	Q8N960	CE120_HUMAN	Y	513;513;487;487	ENSP00000303058:D513Y;ENSP00000327504:D513Y;ENSP00000307419:D487Y;ENSP00000421620:D487Y	ENSP00000303058:D513Y	D	-	1	0	CEP120	122750154	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.756000	0.62205	2.833000	0.97629	0.585000	0.79938	GAT		0.348	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250899.2	0	NM_153223		5:122722255
NOS3	4846	broad.mit.edu	37	7	150704202	150704202	+	Missense_Mutation	SNP	C	C	A	rs148623908		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:150704202C>A	ENST00000297494.3	+	17	2307	c.1950C>A	c.(1948-1950)ttC>ttA	p.F650L	NOS3_ENST00000461406.1_Missense_Mutation_p.F444L	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTGTGTGTTCGGGCTCGGCT	0.677																																						ENST00000297494.3		NA																	0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1948-1950)ttC>ttA		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						103.0	102.0	102.0					7																	150704202		2203	4300	6503	SO:0001583	missense	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150704202C>A		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.1950C>A	7.37:g.150704202C>A	ENSP00000297494:p.Phe650Leu	True	False		Somatic	0				NOS3_ENST00000461406.1_Missense_Mutation_p.F444L	p.F650L	NM_000603.4	NP_000594.2	WXS	Illumina HiSeq	Phase_I	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	17	2307	+	all_neural(206;0.219)		650			Flavodoxin-like.		Q495E5	Missense_Mutation	SNP	ENST00000297494.3	37	c.1950C>A	CCDS5912.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163531	0.57476	.	.	ENSG00000164867	ENST00000297494;ENST00000461406	T;T	0.60299	0.2;0.2	4.92	-0.875	0.10628	Flavodoxin/nitric oxide synthase (2);	0.000000	0.64402	D	0.000005	T	0.60196	0.2250	L	0.42529	1.33	0.80722	D	1	D;P	0.53462	0.96;0.837	P;P	0.62813	0.907;0.727	T	0.58769	-0.7578	10	0.66056	D	0.02	-15.7684	8.4022	0.32592	0.0:0.3284:0.0:0.6716	.	444;650	E7ESA7;P29474	.;NOS3_HUMAN	L	650;444	ENSP00000297494:F650L;ENSP00000417143:F444L	ENSP00000297494:F650L	F	+	3	2	NOS3	150335135	0.725000	0.28048	0.998000	0.56505	0.982000	0.71751	-0.144000	0.10280	-0.022000	0.13986	0.499000	0.49734	TTC		0.677	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350750.2	0	NM_000603		7:150704202
ANK3	288	broad.mit.edu	37	10	61828647	61828647	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:61828647C>A	ENST00000280772.2	-	37	12183	c.11992G>T	c.(11992-11994)Gaa>Taa	p.E3998*	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3998					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTAAAATATTCAATGGAATGT	0.453																																						ENST00000280772.1		NA																	0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11992-11994)Gaa>Taa		ankyrin 3, node of Ranvier (ankyrin G)							108.0	105.0	106.0					10																	61828647		2203	4300	6503	SO:0001587	stop_gained	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828647C>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11992G>T	10.37:g.61828647C>A	ENSP00000280772:p.Glu3998*	False	False		Somatic	0				ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	p.E3998*	NM_020987.3	NP_066267.2	WXS	Illumina HiSeq	Phase_I	Q12955	ANK3_HUMAN			37	12183	-			3998					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	ENST00000280772.2	37	c.11992G>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	54	21.771729	0.99943	.	.	ENSG00000151150	ENST00000280772	.	.	.	5.72	5.72	0.89469	.	0.000000	0.43416	D	0.000568	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	.	.	.	X	3998	.	ENSP00000280772:E3998X	E	-	1	0	ANK3	61498653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.864000	0.62990	2.711000	0.92665	0.655000	0.94253	GAA		0.453	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	0	NM_020987		10:61828647
NGF	4803	broad.mit.edu	37	1	115829233	115829233	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:115829233G>A	ENST00000369512.2	-	3	352	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	62					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CCCGCCACGCGTGCAGCTATC	0.632																																						ENST00000369512.2		NA																	0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(184-186)Cgc>Tgc		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						48.0	48.0	48.0					1																	115829233		2203	4300	6503	SO:0001583	missense	4803				activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding	g.chr1:115829233G>A		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.184C>T	1.37:g.115829233G>A	ENSP00000358525:p.Arg62Cys	False	False		Somatic	0				RP4-663N10.1_ENST00000425449.1_RNA	p.R62C	NM_002506.2	NP_002497.2	WXS	Illumina HiSeq	Phase_I	P01138	NGF_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	3	352	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	62					A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	37	c.184C>T	CCDS882.1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943321	0.34283	.	.	ENSG00000134259	ENST00000369512	T	0.63417	-0.04	5.06	-0.0542	0.13815	.	0.100578	0.42548	D	0.000686	T	0.58206	0.2106	M	0.77486	2.375	0.09310	N	0.999997	D	0.76494	0.999	P	0.51806	0.68	T	0.63184	-0.6694	10	0.87932	D	0	-22.5746	14.8749	0.70488	0.0:0.0:0.6922:0.3078	.	62	P01138	NGF_HUMAN	C	62	ENSP00000358525:R62C	ENSP00000358525:R62C	R	-	1	0	NGF	115630756	0.066000	0.20996	0.543000	0.28128	0.207000	0.24258	1.510000	0.35790	0.104000	0.17725	0.467000	0.42956	CGC		0.632	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	0	NM_002506		1:115829233
SLIT2	9353	broad.mit.edu	37	4	20541152	20541152	+	Missense_Mutation	SNP	C	C	A	rs553808717		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:20541152C>A	ENST00000504154.1	+	19	2173	c.1921C>A	c.(1921-1923)Caa>Aaa	p.Q641K	SLIT2_ENST00000273739.5_Missense_Mutation_p.Q645K|SLIT2_ENST00000503823.1_Missense_Mutation_p.Q633K|SLIT2_ENST00000503837.1_Missense_Mutation_p.Q637K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	641					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.Q641K(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTATGATAATCAAATTACTAC	0.378													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14976	0.0		0.0	False		,,,				2504	0.0					ENST00000504154.1		NA																	1	Substitution - Missense(1)	p.Q641K(1)	kidney(1)	NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(1921-1923)Caa>Aaa		slit homolog 2 (Drosophila)							136.0	129.0	131.0					4																	20541152		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20541152C>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1921C>A	4.37:g.20541152C>A	ENSP00000422591:p.Gln641Lys	True	False		Somatic	0				SLIT2_ENST00000273739.5_Missense_Mutation_p.Q645K|SLIT2_ENST00000503823.1_Missense_Mutation_p.Q633K|SLIT2_ENST00000503837.1_Missense_Mutation_p.Q637K	p.Q641K	NM_004787.1	NP_004778.1	WXS	Illumina HiSeq	Phase_I	O94813	SLIT2_HUMAN			19	2173	+			641					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1921C>A	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.376165	0.61735	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.88	5.88	0.94601	.	0.050442	0.85682	D	0.000000	T	0.42404	0.1201	L	0.38692	1.165	0.58432	D	0.999999	B;P	0.39920	0.008;0.695	B;B	0.32724	0.016;0.151	T	0.26916	-1.0089	10	0.16420	T	0.52	.	20.2187	0.98312	0.0:1.0:0.0:0.0	.	633;641	O94813-3;O94813	.;SLIT2_HUMAN	K	633;641;645;637;637	ENSP00000427548:Q633K;ENSP00000422591:Q641K;ENSP00000273739:Q645K;ENSP00000422261:Q637K	ENSP00000273739:Q645K	Q	+	1	0	SLIT2	20150250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.036000	0.70948	2.780000	0.95670	0.655000	0.94253	CAA		0.378	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2	0			4:20541152
MTFR1L	56181	broad.mit.edu	37	1	26156118	26156118	+	Silent	SNP	C	C	A	rs199554729		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:26156118C>A	ENST00000374301.3	+	6	878	c.570C>A	c.(568-570)acC>acA	p.T190T	MTFR1L_ENST00000374303.2_Silent_p.T190T|RP1-317E23.7_ENST00000606617.1_RNA|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000374300.3_Silent_p.T190T|MTFR1L_ENST00000474295.1_Missense_Mutation_p.P154Q|MTFR1L_ENST00000374307.5_Silent_p.T178T|MTFR1L_ENST00000466284.1_Missense_Mutation_p.P154Q|MTFR1L_ENST00000526894.1_Intron|MTFR1L_ENST00000524618.1_Silent_p.T93T	NM_019557.5	NP_062457.3	Q9H019	MFR1L_HUMAN	mitochondrial fission regulator 1-like	190																	GTGACATCACCGAGGAGACAG	0.478																																						ENST00000466284.1		NA																	0					NA						c.(460-462)cCg>cAg		mitochondrial fission regulator 1-like							210.0	188.0	195.0					1																	26156118		1918	4136	6054	SO:0001819	synonymous_variant	56181							g.chr1:26156118C>A		CCDS41284.1, CCDS44089.1	1p36.11	2012-11-30	2012-11-29	2012-11-29	ENSG00000117640	ENSG00000117640			28836	protein-coding gene	gene with protein product			"""family with sequence similarity 54, member B"""	FAM54B		8619474, 9110174	Standard	NM_019557		Approved		uc001bkq.4	Q9H019	OTTHUMG00000007377	ENST00000374301.3:c.570C>A	1.37:g.26156118C>A		False	False		Somatic	0				MTFR1L_ENST00000374301.3_Silent_p.T190T|MTFR1L_ENST00000374303.2_Silent_p.T190T|MTFR1L_ENST00000474295.1_Missense_Mutation_p.P154Q|MTFR1L_ENST00000374300.3_Silent_p.T190T|MTFR1L_ENST00000526894.1_Intron|MTFR1L_ENST00000524618.1_Silent_p.T93T|MTFR1L_ENST00000469815.1_3'UTR|MTFR1L_ENST00000374307.5_Silent_p.T178T	p.P154Q			WXS	Illumina HiSeq	Phase_I					5	2043	+			NA					A6NCB4|B7WNV5|D3DPJ4|Q63HP1|Q7Z2S7|Q9NUI7	Missense_Mutation	SNP	ENST00000374301.3	37	c.461C>A	CCDS41284.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.555163	0.45487	.	.	ENSG00000117640	ENST00000474295;ENST00000466284	T;T	0.41758	0.99;0.99	6.17	-5.74	0.02391	.	.	.	.	.	T	0.17152	0.0412	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24440	-1.0160	8	0.11794	T	0.64	0.2996	4.451	0.11621	0.1308:0.3155:0.0696:0.4841	.	154	Q9H019-2	.	Q	154	ENSP00000435461:P154Q;ENSP00000434751:P154Q	ENSP00000434751:P154Q	P	+	2	0	FAM54B	26028705	0.002000	0.14202	0.664000	0.29753	0.997000	0.91878	-1.661000	0.01972	-0.841000	0.04200	0.655000	0.94253	CCG		0.478	MTFR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019319.1	0	NM_019557		1:26156118
OR6C75	390323	broad.mit.edu	37	12	55759411	55759411	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:55759411G>T	ENST00000343399.3	+	1	517	c.517G>T	c.(517-519)Gat>Tat	p.D173Y		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CAATGTAATTGATCATTTTAT	0.423																																						ENST00000343399.3		NA																	0				endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(517-519)Gat>Tat		olfactory receptor, family 6, subfamily C, member 75							168.0	144.0	152.0					12																	55759411		2203	4300	6503	SO:0001583	missense	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759411G>T		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.517G>T	12.37:g.55759411G>T	ENSP00000368987:p.Asp173Tyr	False	False		Somatic	0					p.D173Y	NM_001005497.1	NP_001005497.1	WXS	Illumina HiSeq	Phase_I	A6NL08	O6C75_HUMAN			1	517	+			173						Missense_Mutation	SNP	ENST00000343399.3	37	c.517G>T	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	g	16.20	3.056039	0.55325	.	.	ENSG00000187857	ENST00000343399	T	0.00193	8.58	5.22	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.129958	0.33854	N	0.004486	T	0.00552	0.0018	M	0.85462	2.755	0.32741	N	0.507645	D	0.89917	1.0	D	0.79108	0.992	T	0.43702	-0.9375	10	0.87932	D	0	.	10.4759	0.44665	0.1511:0.0:0.8489:0.0	.	173	A6NL08	O6C75_HUMAN	Y	173	ENSP00000368987:D173Y	ENSP00000368987:D173Y	D	+	1	0	OR6C75	54045678	0.000000	0.05858	1.000000	0.80357	0.971000	0.66376	-0.165000	0.09968	2.725000	0.93324	0.632000	0.83419	GAT		0.423	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1	0			12:55759411
PSD3	23362	broad.mit.edu	37	8	18393349	18393349	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:18393349C>A	ENST00000327040.8	-	16	3150	c.3048G>T	c.(3046-3048)ccG>ccT	p.P1016P	PSD3_ENST00000428502.2_Silent_p.P345P|PSD3_ENST00000523619.1_Silent_p.P951P|PSD3_ENST00000440756.2_Silent_p.P1018P|PSD3_ENST00000286485.8_Silent_p.P482P	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	1017					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GAGAAGTATCCGGGTTCAGCG	0.483																																						ENST00000440756.2		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(3052-3054)ccG>ccT		pleckstrin and Sec7 domain containing 3							199.0	162.0	174.0					8																	18393349		2203	4300	6503	SO:0001819	synonymous_variant	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18393349C>A	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.3048G>T	8.37:g.18393349C>A		True	False		Somatic	0				PSD3_ENST00000428502.2_Silent_p.P345P|PSD3_ENST00000523619.1_Silent_p.P951P|PSD3_ENST00000286485.8_Silent_p.P482P|PSD3_ENST00000327040.8_Silent_p.P1016P	p.P1018P			WXS	Illumina HiSeq	Phase_I	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	16	3156	-			1017					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	ENST00000327040.8	37	c.3054G>T	CCDS43720.1																																																																																				0.483	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	0	NM_015310		8:18393349
NUGGC	389643	broad.mit.edu	37	8	27927120	27927120	+	Missense_Mutation	SNP	C	C	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:27927120C>G	ENST00000413272.2	-	4	340	c.198G>C	c.(196-198)caG>caC	p.Q66H	NUGGC_ENST00000341513.6_Missense_Mutation_p.Q66H	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	66					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										GAATAAGTTTCTGATAAGTGT	0.418																																						ENST00000413272.2		NA																	0					NA						c.(196-198)caG>caC		nuclear GTPase, germinal center associated							141.0	138.0	139.0					8																	27927120		1922	4138	6060	SO:0001583	missense	389643							g.chr8:27927120C>G	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.198G>C	8.37:g.27927120C>G	ENSP00000408697:p.Gln66His	True	False		Somatic	0				NUGGC_ENST00000341513.6_Missense_Mutation_p.Q66H	p.Q66H	NM_001010906.1	NP_001010906.1	WXS	Illumina HiSeq	Phase_I					4	340	-			NA					Q6ZP73	Missense_Mutation	SNP	ENST00000413272.2	37	c.198G>C	CCDS47833.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826699	0.71143	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	T;T	0.17054	2.3;2.3	5.49	4.6	0.57074	.	0.000000	0.64402	D	0.000010	T	0.28366	0.0701	L	0.36672	1.1	0.35510	D	0.800545	D	0.89917	1.0	D	0.75484	0.986	T	0.13926	-1.0491	10	0.59425	D	0.04	-16.1764	9.5385	0.39237	0.0:0.9061:0.0:0.0939	.	66	Q68CJ6	SLIP_HUMAN	H	66	ENSP00000408697:Q66H;ENSP00000345031:Q66H	ENSP00000345031:Q66H	Q	-	3	2	C8orf80	27983039	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.713000	0.37951	2.731000	0.93534	0.650000	0.86243	CAG		0.418	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342494.1	0	NM_001010906		8:27927120
RP11-156P1.2	0	broad.mit.edu	37	17	45126612	45126612	+	IGR	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:45126612A>G	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							ATTCATGAAGACGTTACAAGC	0.483																																						ENST00000575173.1		NA																	0					NA																																												SO:0001628	intergenic_variant	0							g.chr17:45126612A>G																													17.37:g.45126612A>G		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	418	-			NA						RNA	SNP	ENST00000571841.1	37																																																																																						0.483	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1	0			17:45126612
FAM179B	23116	broad.mit.edu	37	14	45475240	45475240	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:45475240C>A	ENST00000361577.3	+	5	2888	c.2674C>A	c.(2674-2676)Cag>Aag	p.Q892K	FAM179B_ENST00000382233.2_Missense_Mutation_p.Q892K|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361462.2_Missense_Mutation_p.Q892K	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	892										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ACCTCCAGTTCAGCTTACACC	0.413																																						ENST00000361462.2		NA																	0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(2674-2676)Cag>Aag		family with sequence similarity 179, member B							85.0	86.0	86.0					14																	45475240		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45475240C>A	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2674C>A	14.37:g.45475240C>A	ENSP00000355045:p.Gln892Lys	False	False		Somatic	0				KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000382233.2_Missense_Mutation_p.Q892K|FAM179B_ENST00000361577.3_Missense_Mutation_p.Q892K	p.Q892K			WXS	Illumina HiSeq	Phase_I	Q9Y4F4	F179B_HUMAN			5	2857	+			892					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.2674C>A	CCDS9681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.440826|4.440826	0.83993|0.83993	.|.	.|.	ENSG00000198718|ENSG00000198718	ENST00000557250|ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	.|T;T;T	.|0.32515	.|2.71;2.7;1.45	5.39|5.39	4.49|4.49	0.54785|0.54785	.|Armadillo-type fold (1);	.|0.423728	.|0.22562	.|N	.|0.058445	T|T	0.36386|0.36386	0.0965|0.0965	L|L	0.29908|0.29908	0.895|0.895	0.31755|0.31755	N|N	0.63409|0.63409	.|D;D;D	.|0.62365	.|0.991;0.979;0.979	.|P;P;P	.|0.56563	.|0.725;0.801;0.801	T|T	0.35076|0.35076	-0.9803|-0.9803	5|10	.|0.23302	.|T	.|0.38	-4.6402|-4.6402	15.8279|15.8279	0.78727|0.78727	0.0:0.8634:0.1366:0.0|0.0:0.8634:0.1366:0.0	.|.	.|892;892;892	.|G3XAE9;Q9Y4F4;Q9Y4F4-2	.|.;F179B_HUMAN;.	L|K	83|892	.|ENSP00000355045:Q892K;ENSP00000354917:Q892K;ENSP00000371668:Q892K	.|ENSP00000354917:Q892K	F|Q	+|+	3|1	2|0	FAM179B|FAM179B	44544990|44544990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	3.803000|3.803000	0.55560|0.55560	1.271000|1.271000	0.44313|0.44313	0.558000|0.558000	0.71614|0.71614	TTC|CAG		0.413	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	0	XM_113781		14:45475240
ECT2	1894	broad.mit.edu	37	3	172473162	172473162	+	Missense_Mutation	SNP	A	A	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:172473162A>C	ENST00000392692.3	+	3	384	c.208A>C	c.(208-210)Aag>Cag	p.K70Q	ECT2_ENST00000232458.5_Missense_Mutation_p.K70Q|ECT2_ENST00000427830.1_Missense_Mutation_p.K70Q|ECT2_ENST00000540509.1_Missense_Mutation_p.K70Q|ECT2_ENST00000441497.2_Missense_Mutation_p.K70Q|ECT2_ENST00000417960.1_Missense_Mutation_p.K69Q	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	70					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAAGCCTTAAAGGTACGGAG	0.313																																						ENST00000417960.1		NA																	0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(205-207)Aag>Cag		epithelial cell transforming sequence 2 oncogene							97.0	104.0	101.0					3																	172473162		2203	4298	6501	SO:0001583	missense	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172473162A>C	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.208A>C	3.37:g.172473162A>C	ENSP00000376457:p.Lys70Gln	True	False		Somatic	0				ECT2_ENST00000232458.5_Missense_Mutation_p.K70Q|ECT2_ENST00000441497.2_Missense_Mutation_p.K70Q|ECT2_ENST00000392692.3_Missense_Mutation_p.K70Q|ECT2_ENST00000540509.1_Missense_Mutation_p.K70Q|ECT2_ENST00000427830.1_Missense_Mutation_p.K70Q	p.K69Q	NM_001258316.1	NP_001245245.1	WXS	Illumina HiSeq	Phase_I	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		4	682	+	Ovarian(172;0.00197)|Breast(254;0.158)		70					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	c.205A>C	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	A	5.267	0.234752	0.09969	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000428567;ENST00000426894;ENST00000366090;ENST00000415665;ENST00000438041;ENST00000441497;ENST00000540509	T;T;T;T;T;T;T;T;T;T;T	0.66099	-0.02;-0.19;-0.04;-0.02;0.97;0.93;0.87;1.01;0.87;-0.02;-0.19	5.58	3.14	0.36123	.	0.162995	0.56097	N	0.000021	T	0.31949	0.0813	N	0.11560	0.145	0.32649	N	0.51964	B;B;B;B	0.16166	0.005;0.015;0.001;0.016	B;B;B;B	0.20184	0.008;0.028;0.011;0.006	T	0.34576	-0.9823	10	0.02654	T	1	-6.7187	3.8864	0.09100	0.5385:0.1802:0.2813:0.0	.	70;70;70;69	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	Q	70;70;70;69;69;70;70;70;70;70;70	ENSP00000232458:K70Q;ENSP00000376457:K70Q;ENSP00000401910:K70Q;ENSP00000415876:K69Q;ENSP00000403501:K69Q;ENSP00000412331:K70Q;ENSP00000403446:K70Q;ENSP00000412028:K70Q;ENSP00000389108:K70Q;ENSP00000412259:K70Q;ENSP00000443160:K70Q	ENSP00000232458:K70Q	K	+	1	0	ECT2	173955856	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	1.277000	0.33167	0.384000	0.24942	0.402000	0.26972	AAG		0.313	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	0	NM_018098		3:172473162
TTN	7273	broad.mit.edu	37	2	179445134	179445134	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:179445134C>A	ENST00000591111.1	-	267	62273	c.62049G>T	c.(62047-62049)gtG>gtT	p.V20683V	TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.V19756V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V13384V|TTN_ENST00000589042.1_Silent_p.V22324V|TTN_ENST00000460472.2_Silent_p.V13259V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.V13451V|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20683					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)			CATATTTGTTCACATTTTCAC	0.363																																						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.(66970-66972)gtG>gtT		titin							165.0	150.0	155.0					2																	179445134		1869	4096	5965	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179445134C>A	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.62049G>T	2.37:g.179445134C>A		False	False		Somatic	0				TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.V19756V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.V20683V|TTN_ENST00000342175.6_Silent_p.V13451V|TTN_ENST00000359218.5_Silent_p.V13384V|TTN_ENST00000460472.2_Silent_p.V13259V	p.V22324V	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)		317	67196	-			20683			Fibronectin type-III 62.		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	Silent	SNP	ENST00000591111.1	37	c.66972G>T																																																																																					0.363	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179445134
HHIPL2	79802	broad.mit.edu	37	1	222716940	222716940	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:222716940G>T	ENST00000343410.6	-	2	971	c.913C>A	c.(913-915)Cga>Aga	p.R305R		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	305					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCACTAATTCGGATCTTTTCT	0.453																																						ENST00000343410.6		NA																	0				NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(913-915)Cga>Aga		HHIP-like 2							235.0	262.0	253.0					1																	222716940		2203	4300	6503	SO:0001819	synonymous_variant	79802				carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	g.chr1:222716940G>T	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.913C>A	1.37:g.222716940G>T		False	False		Somatic	0					p.R305R	NM_024746.3	NP_079022.2	WXS	Illumina HiSeq	Phase_I	Q6UWX4	HIPL2_HUMAN		GBM - Glioblastoma multiforme(131;0.0185)	2	971	-			305					Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Silent	SNP	ENST00000343410.6	37	c.913C>A	CCDS1530.2																																																																																				0.453	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	0	NM_024746		1:222716940
ARHGAP35	2909	broad.mit.edu	37	19	47424922	47424922	+	Missense_Mutation	SNP	G	G	T	rs371941437		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:47424922G>T	ENST00000404338.3	+	1	2990	c.2990G>T	c.(2989-2991)cGa>cTa	p.R997L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	997					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)	p.R997Q(1)									AGCCTGTTTCGAGAAGACACA	0.478																																						ENST00000404338.3		NA																	1	Substitution - Missense(1)	p.R997Q(1)	large_intestine(1)		NA						c.(2989-2991)cGa>cTa		Rho GTPase activating protein 35							64.0	63.0	63.0					19																	47424922		1937	4149	6086	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47424922G>T	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2990G>T	19.37:g.47424922G>T	ENSP00000385720:p.Arg997Leu	False	False		Somatic	0					p.R997L	NM_004491.4	NP_004482.4	WXS	Illumina HiSeq	Phase_I	Q9NRY4	RHG35_HUMAN			1	2990	+			997					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.2990G>T	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889137	0.52014	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.08370	3.1	5.76	5.76	0.90799	.	0.061993	0.64402	D	0.000005	T	0.11239	0.0274	L	0.43152	1.355	0.43678	D	0.996117	P	0.41624	0.757	P	0.47299	0.543	T	0.17531	-1.0366	10	0.11794	T	0.64	-7.3842	12.1257	0.53915	0.0796:0.0:0.9204:0.0	.	997	Q9NRY4-2	.	L	997	ENSP00000385720:R997L	ENSP00000324820:R997L	R	+	2	0	ARHGAP35	52116762	0.993000	0.37304	0.999000	0.59377	0.995000	0.86356	7.298000	0.78815	2.726000	0.93360	0.655000	0.94253	CGA		0.478	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1	0	NM_004491		19:47424922
DPH1	1801	broad.mit.edu	37	17	1943116	1943116	+	Splice_Site	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:1943116C>A	ENST00000263083.6	+	7	808	c.763C>A	c.(763-765)Cgg>Agg	p.R255R	DPH1_ENST00000570477.1_Splice_Site_p.R175R|OVCA2_ENST00000572195.1_5'Flank	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	255					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCCCGCTTACCGGTATGGGCT	0.577																																						ENST00000263083.6		NA																	0				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						c.e7+1		diphthamide biosynthesis 1							90.0	97.0	94.0					17																	1943116		1994	4158	6152	SO:0001630	splice_region_variant	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1943116C>A	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.764+1C>A	17.37:g.1943116C>A		False	False		Somatic	0				DPH1_ENST00000570477.1_Splice_Site_p.R175_splice	p.R255_splice	NM_001383.3	NP_001374.3	WXS	Illumina HiSeq	Phase_I	Q9BZG8	DPH1_HUMAN			7	808	+			255					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Splice_Site	SNP	ENST00000263083.6	37	c.764_splice	CCDS42228.1																																																																																				0.577	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	0	NM_001383	Silent	17:1943116
SLIT2	9353	broad.mit.edu	37	4	20525792	20525792	+	Missense_Mutation	SNP	G	G	A	rs192894188		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:20525792G>A	ENST00000504154.1	+	14	1682	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	SLIT2_ENST00000273739.5_Missense_Mutation_p.R481H|SLIT2_ENST00000503823.1_Missense_Mutation_p.R477H|SLIT2_ENST00000503837.1_Missense_Mutation_p.R481H	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	477	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGAAATTCCGTTGTTCAGGT	0.478													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17529	0.0		0.0	False		,,,				2504	0.0					ENST00000504154.1		NA																	0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(1429-1431)cGt>cAt		slit homolog 2 (Drosophila)							86.0	98.0	94.0					4																	20525792		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20525792G>A	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1430G>A	4.37:g.20525792G>A	ENSP00000422591:p.Arg477His	False	False		Somatic	0				SLIT2_ENST00000273739.5_Missense_Mutation_p.R481H|SLIT2_ENST00000503823.1_Missense_Mutation_p.R477H|SLIT2_ENST00000503837.1_Missense_Mutation_p.R481H	p.R477H	NM_004787.1	NP_004778.1	WXS	Illumina HiSeq	Phase_I	O94813	SLIT2_HUMAN			14	1682	+			477			LRRCT 2.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.1430G>A	CCDS3426.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	34	5.335323	0.95758	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.81163	-1.45;-1.46;-1.37;-1.43	5.93	5.93	0.95920	Cysteine-rich flanking region, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.88097	0.6345	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.987;0.988	D	0.87886	0.2681	10	0.72032	D	0.01	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	477;477	O94813-3;O94813	.;SLIT2_HUMAN	H	477;477;481;481;481	ENSP00000427548:R477H;ENSP00000422591:R477H;ENSP00000273739:R481H;ENSP00000422261:R481H	ENSP00000273739:R481H	R	+	2	0	SLIT2	20134890	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.807000	0.99171	2.805000	0.96524	0.655000	0.94253	CGT		0.478	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2	0			4:20525792
KLHL7	55975	broad.mit.edu	37	7	23183515	23183515	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:23183515C>A	ENST00000339077.5	+	6	907	c.664C>A	c.(664-666)Cgc>Agc	p.R222S	KLHL7_ENST00000322231.7_Missense_Mutation_p.R200S|KLHL7_ENST00000545443.1_Missense_Mutation_p.R200S|KLHL7_ENST00000409689.1_Missense_Mutation_p.R174S|KLHL7_ENST00000479288.1_3'UTR|KLHL7_ENST00000539124.1_Missense_Mutation_p.R146S|KLHL7_ENST00000542558.1_5'UTR	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	222	BACK.				protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGAACCTAATCGCCAGCCATT	0.378																																						ENST00000322231.7		NA																	0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(598-600)Cgc>Agc		kelch-like family member 7							224.0	209.0	214.0					7																	23183515		2203	4300	6503	SO:0001583	missense	55975					Golgi apparatus|nucleolus|plasma membrane		g.chr7:23183515C>A		CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.664C>A	7.37:g.23183515C>A	ENSP00000343273:p.Arg222Ser	True	False		Somatic	0				KLHL7_ENST00000339077.4_Missense_Mutation_p.R222S|KLHL7_ENST00000539124.1_Missense_Mutation_p.R146S|KLHL7_ENST00000542558.1_5'UTR|KLHL7_ENST00000545443.1_Missense_Mutation_p.R200S|KLHL7_ENST00000409689.1_Missense_Mutation_p.R174S|KLHL7_ENST00000479288.1_3'UTR	p.R200S			WXS	Illumina HiSeq	Phase_I	Q8IXQ5	KLHL7_HUMAN			7	1088	+			222					A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	ENST00000339077.5	37	c.598C>A	CCDS34609.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603408	0.87157	.	.	ENSG00000122550	ENST00000536369;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000409689;ENST00000545443	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.43	5.43	0.79202	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.87815	0.6272	M	0.91354	3.2	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71870	0.975;0.957	D	0.90023	0.4129	10	0.87932	D	0	.	19.5857	0.95489	0.0:1.0:0.0:0.0	.	222;200	Q8IXQ5;Q8IXQ5-2	KLHL7_HUMAN;.	S	188;200;222;146;174;200	ENSP00000322958:R200S;ENSP00000343273:R222S;ENSP00000441136:R146S;ENSP00000386263:R174S;ENSP00000442366:R200S	ENSP00000322958:R200S	R	+	1	0	KLHL7	23150040	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.276000	0.58933	2.696000	0.92011	0.591000	0.81541	CGC		0.378	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326860.3	0	NM_018846		7:23183515
ABCC12	94160	broad.mit.edu	37	16	48149365	48149365	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:48149365G>T	ENST00000311303.3	-	13	2295	c.1950C>A	c.(1948-1950)ctC>ctA	p.L650L	ABCC12_ENST00000448542.1_Silent_p.L650L|ABCC12_ENST00000416054.1_Nonsense_Mutation_p.S626*	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	650	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCTTTCCCCTGAGCGTCTTCT	0.607																																						ENST00000416054.1		NA																	0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(1876-1878)tCa>tAa		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							193.0	177.0	182.0					16																	48149365		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48149365G>T	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1950C>A	16.37:g.48149365G>T		False	False		Somatic	0				ABCC12_ENST00000448542.1_Silent_p.L650L|ABCC12_ENST00000311303.3_Silent_p.L650L	p.S626*			WXS	Illumina HiSeq	Phase_I	Q96J65	MRP9_HUMAN			12	1882	-		all_cancers(37;0.0474)|all_lung(18;0.047)	0			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Nonsense_Mutation	SNP	ENST00000311303.3	37	c.1877C>A	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	G	36	5.711257	0.96821	.	.	ENSG00000140798	ENST00000416054	.	.	.	5.24	0.714	0.18180	.	.	.	.	.	.	.	.	.	.	.	0.47123	A	0.999322	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.794	0.03057	0.2309:0.2487:0.3932:0.1272	.	.	.	.	X	626	.	ENSP00000413046:S626X	S	-	2	0	ABCC12	46706866	0.000000	0.05858	0.903000	0.35520	0.535000	0.34838	-0.463000	0.06696	0.286000	0.22352	0.467000	0.42956	TCA		0.607	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	0	NM_033226		16:48149365
SBDS	51119	broad.mit.edu	37	7	66458225	66458225	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:66458225G>T	ENST00000246868.2	-	3	621	c.438C>A	c.(436-438)acC>acA	p.T146T		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	146				T -> P (in Ref. 2; AAD34092). {ECO:0000305}.	bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TACTCTTGTTGGTTTTCACCG	0.393			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																													ENST00000246868.2		NA	yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Gene Conversion	Shwachman-Bodian-Diamond syndrome protein			L		"""AML, MDS"""			0				cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						c.(436-438)acC>acA		Shwachman-Bodian-Diamond syndrome							268.0	243.0	252.0					7																	66458225		2203	4300	6503	SO:0001819	synonymous_variant	51119	Shwachman-Diamond syndrome	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding	g.chr7:66458225G>T	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.438C>A	7.37:g.66458225G>T		False	False		Somatic	0					p.T146T	NM_016038.2	NP_057122.2	WXS	Illumina HiSeq	Phase_I	Q9Y3A5	SBDS_HUMAN			3	621	-			146	T -> P (in Ref. 2; AAD34092).				A8K0P4|Q96FX0|Q9NV53	Silent	SNP	ENST00000246868.2	37	c.438C>A	CCDS5537.1																																																																																				0.393	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251746.2	0	NM_016038		7:66458225
KBTBD7	84078	broad.mit.edu	37	13	41766701	41766701	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:41766701C>A	ENST00000379483.3	-	1	2001	c.1693G>T	c.(1693-1695)Gac>Tac	p.D565Y		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	565										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AACTTTTGGTCATGATTGACA	0.428																																						ENST00000379483.3		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(1693-1695)Gac>Tac		kelch repeat and BTB (POZ) domain containing 7							178.0	175.0	176.0					13																	41766701		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41766701C>A	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1693G>T	13.37:g.41766701C>A	ENSP00000368797:p.Asp565Tyr	False	False		Somatic	0					p.D565Y	NM_032138.4	NP_115514.2	WXS	Illumina HiSeq	Phase_I	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	2001	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	565					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.1693G>T	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	C	7.206	0.594450	0.13875	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.70164	-0.46	5.37	5.37	0.77165	Kelch-type beta propeller (1);	0.277584	0.34110	U	0.004247	T	0.51753	0.1693	N	0.19112	0.55	0.36583	D	0.87366	P	0.36495	0.556	B	0.31016	0.123	T	0.65228	-0.6219	10	0.72032	D	0.01	.	16.5964	0.84797	0.0:1.0:0.0:0.0	.	565	Q8WVZ9	KBTB7_HUMAN	Y	565;467	ENSP00000368797:D565Y	ENSP00000368797:D565Y	D	-	1	0	KBTBD7	40664701	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	1.986000	0.40677	2.502000	0.84385	0.557000	0.71058	GAC		0.428	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	0	NM_032138		13:41766701
PRDM2	7799	broad.mit.edu	37	1	14107823	14107823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:14107823C>A	ENST00000235372.7	+	8	4389	c.3533C>A	c.(3532-3534)tCa>tAa	p.S1178*	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Nonsense_Mutation_p.S977*|PRDM2_ENST00000311066.5_Nonsense_Mutation_p.S1178*|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Nonsense_Mutation_p.S977*	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		ACGGACTTGTCAGAACATCGC	0.363																																						ENST00000235372.7		NA																	0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(3532-3534)tCa>tAa		PR domain containing 2, with ZNF domain							107.0	106.0	107.0					1																	14107823		2203	4300	6503	SO:0001587	stop_gained	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14107823C>A	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.3533C>A	1.37:g.14107823C>A	ENSP00000235372:p.Ser1178*	False	False		Somatic	0				PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Nonsense_Mutation_p.S977*|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Nonsense_Mutation_p.S977*|PRDM2_ENST00000311066.5_Nonsense_Mutation_p.S1178*	p.S1178*	NM_012231.4	NP_036363.2	WXS	Illumina HiSeq	Phase_I	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	4389	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1178					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Nonsense_Mutation	SNP	ENST00000235372.7	37	c.3533C>A	CCDS150.1	.	.	.	.	.	.	.	.	.	.	C	41	8.666899	0.98908	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	.	.	.	5.97	5.97	0.96955	.	0.079867	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05436	T	0.98	.	18.9918	0.92796	0.0:1.0:0.0:0.0	.	.	.	.	X	1178;1178;1178;977;977	.	ENSP00000235372:S1178X	S	+	2	0	PRDM2	13980410	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.592000	0.67543	2.837000	0.97791	0.655000	0.94253	TCA		0.363	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	0	NM_012231		1:14107823
TRMT13	54482	broad.mit.edu	37	1	100602634	100602634	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:100602634C>A	ENST00000370141.2	+	3	260	c.254C>A	c.(253-255)cCa>cAa	p.P85Q	TRMT13_ENST00000370143.1_Missense_Mutation_p.P85Q|TRMT13_ENST00000370139.1_Missense_Mutation_p.P54Q	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	85					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										AGAGAGAAACCAAAACCTGTA	0.338																																						ENST00000370141.2		NA																	0					NA						c.(253-255)cCa>cAa		tRNA methyltransferase 13 homolog (S. cerevisiae)							83.0	87.0	86.0					1																	100602634		2203	4300	6503	SO:0001583	missense	54482							g.chr1:100602634C>A	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.254C>A	1.37:g.100602634C>A	ENSP00000359160:p.Pro85Gln	True	False		Somatic	0				TRMT13_ENST00000370139.1_Missense_Mutation_p.P54Q|TRMT13_ENST00000370143.1_Missense_Mutation_p.P85Q	p.P85Q	NM_019083.2	NP_061956.2	WXS	Illumina HiSeq	Phase_I					3	260	+			NA					Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.254C>A	CCDS765.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326621	0.81690	.	.	ENSG00000122435	ENST00000370143;ENST00000370141;ENST00000370139	T;T;T	0.42513	1.03;1.02;0.97	5.78	5.78	0.91487	.	0.048914	0.85682	D	0.000000	T	0.52757	0.1754	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	0.994;1.0	P;D	0.73380	0.88;0.98	T	0.30995	-0.9959	10	0.23302	T	0.38	-10.4814	19.5995	0.95554	0.0:1.0:0.0:0.0	.	85;85	B4DQS9;Q9NUP7	.;TRM13_HUMAN	Q	85;85;54	ENSP00000359162:P85Q;ENSP00000359160:P85Q;ENSP00000359158:P54Q	ENSP00000359158:P54Q	P	+	2	0	CCDC76	100375222	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.923000	0.75817	2.714000	0.92807	0.650000	0.86243	CCA		0.338	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	0	NM_019083		1:100602634
SLC25A13	10165	broad.mit.edu	37	7	95818680	95818680	+	Missense_Mutation	SNP	A	A	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:95818680A>C	ENST00000265631.5	-	9	995	c.859T>G	c.(859-861)Tta>Gta	p.L287V	SLC25A13_ENST00000542654.1_Missense_Mutation_p.L179V|SLC25A13_ENST00000416240.2_Missense_Mutation_p.L287V			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	287					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	ATGTCTGCTAAGGTCATACGT	0.393																																						ENST00000416240.2		NA																	0				breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42						c.(859-861)Tta>Gta		solute carrier family 25 (aspartate/glutamate carrier), member 13	L-Aspartic Acid(DB00128)						94.0	92.0	92.0					7																	95818680		2203	4300	6503	SO:0001583	missense	10165				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity	g.chr7:95818680A>C	AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.859T>G	7.37:g.95818680A>C	ENSP00000265631:p.Leu287Val	False	False		Somatic	0				SLC25A13_ENST00000265631.5_Missense_Mutation_p.L287V|SLC25A13_ENST00000542654.1_Missense_Mutation_p.L179V	p.L287V	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	WXS	Illumina HiSeq	Phase_I	Q9UJS0	CMC2_HUMAN	STAD - Stomach adenocarcinoma(171;0.194)		9	1049	-	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		287					O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	c.859T>G	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	A	8.292	0.818007	0.16607	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.80653	-1.4;-1.39;-1.37	4.69	3.55	0.40652	EF-hand-like domain (1);	.	.	.	.	T	0.79678	0.4487	M	0.83223	2.63	0.42021	D	0.990984	B;B;B	0.25206	0.12;0.073;0.073	B;B;B	0.28916	0.096;0.044;0.044	T	0.76326	-0.3000	9	0.42905	T	0.14	-8.2043	6.7603	0.23536	0.7888:0.0:0.0753:0.1359	.	179;287;287	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	V	287;287;179	ENSP00000265631:L287V;ENSP00000400101:L287V;ENSP00000440484:L179V	ENSP00000265631:L287V	L	-	1	2	SLC25A13	95656616	0.324000	0.24652	1.000000	0.80357	0.164000	0.22412	1.072000	0.30678	1.129000	0.42072	0.533000	0.62120	TTA		0.393	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	0	NM_014251		7:95818680
ZNF502	91392	broad.mit.edu	37	3	44762976	44762976	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:44762976C>A	ENST00000296091.4	+	4	923	c.667C>A	c.(667-669)Cga>Aga	p.R223R	ZNF502_ENST00000436624.2_Silent_p.R223R|ZNF502_ENST00000449836.1_Silent_p.R223R	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ATTTCGATGTCGATCATTTCT	0.398																																						ENST00000296091.4		NA																	0				NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19						c.(667-669)Cga>Aga		zinc finger protein 502							153.0	159.0	157.0					3																	44762976		2203	4300	6503	SO:0001819	synonymous_variant	91392				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:44762976C>A	AK022577	CCDS2719.1	3p21.32	2013-01-08			ENSG00000196653	ENSG00000196653		"""Zinc fingers, C2H2-type"""	23718	protein-coding gene	gene with protein product							Standard	NM_033210		Approved	FLJ14855, FLJ12515	uc003cnt.3	Q8TBZ5	OTTHUMG00000133086	ENST00000296091.4:c.667C>A	3.37:g.44762976C>A		False	False		Somatic	0				ZNF502_ENST00000449836.1_Silent_p.R223R|ZNF502_ENST00000436624.2_Silent_p.R223R	p.R223R	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	WXS	Illumina HiSeq	Phase_I	Q8TBZ5	ZN502_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)	4	923	+			223						Silent	SNP	ENST00000296091.4	37	c.667C>A	CCDS2719.1																																																																																				0.398	ZNF502-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256744.4	0	NM_033210		3:44762976
ASB10	136371	broad.mit.edu	37	7	150878170	150878170	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:150878170G>T	ENST00000420175.2	-	3	984	c.960C>A	c.(958-960)gcC>gcA	p.A320A	ASB10_ENST00000377867.3_Silent_p.A305A|ASB10_ENST00000422024.1_Silent_p.A365A|ASB10_ENST00000434669.1_Silent_p.A365A|ASB10_ENST00000275838.1_Silent_p.A320A			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	320			A -> T (in GLC1F; uncertain pathological significance). {ECO:0000269|PubMed:22156576}.		intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCATGGTGTTGGCGCTGACAC	0.682																																						ENST00000422024.1		NA																	0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(1093-1095)gcC>gcA		ankyrin repeat and SOCS box containing 10							48.0	41.0	43.0					7																	150878170		2203	4297	6500	SO:0001819	synonymous_variant	136371				intracellular signal transduction			g.chr7:150878170G>T	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.960C>A	7.37:g.150878170G>T		False	False		Somatic	0				ASB10_ENST00000275838.1_Silent_p.A320A|ASB10_ENST00000377867.3_Silent_p.A305A|ASB10_ENST00000434669.1_Silent_p.A365A|ASB10_ENST00000420175.2_Silent_p.A320A	p.A365A	NM_001142459.1	NP_001135931.2	WXS	Illumina HiSeq	Phase_I	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1220	-			320					A0AVH0|Q6ZUL6	Silent	SNP	ENST00000420175.2	37	c.1095C>A	CCDS47750.2																																																																																				0.682	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	0	NM_080871		7:150878170
WDR78	79819	broad.mit.edu	37	1	67337143	67337143	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:67337143C>A	ENST00000371026.3	-	6	905	c.850G>T	c.(850-852)Gac>Tac	p.D284Y	WDR78_ENST00000431318.1_Missense_Mutation_p.D30Y|WDR78_ENST00000371022.3_Missense_Mutation_p.D284Y|WDR78_ENST00000371023.3_Missense_Mutation_p.D284Y	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	284					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						ACATATAGGTCATTGCCTAAT	0.318																																						ENST00000371026.3		NA																	0				NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						c.(850-852)Gac>Tac		WD repeat domain 78							159.0	157.0	158.0					1																	67337143		2202	4297	6499	SO:0001583	missense	79819							g.chr1:67337143C>A	BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.850G>T	1.37:g.67337143C>A	ENSP00000360065:p.Asp284Tyr	False	False		Somatic	0				WDR78_ENST00000431318.1_Missense_Mutation_p.D30Y|WDR78_ENST00000371022.3_Missense_Mutation_p.D284Y|WDR78_ENST00000371023.3_Missense_Mutation_p.D284Y	p.D284Y	NM_024763.4	NP_079039.4	WXS	Illumina HiSeq	Phase_I	Q5VTH9	WDR78_HUMAN			6	905	-			284					A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Missense_Mutation	SNP	ENST00000371026.3	37	c.850G>T	CCDS635.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.34|14.34	2.507082|2.507082	0.44558|0.44558	.|.	.|.	ENSG00000152763|ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352;ENST00000371023;ENST00000371022|ENST00000469450	T;T;T;T;T|.	0.79554|.	-0.23;-1.28;-0.66;1.57;0.19|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.047040|.	0.85682|.	D|.	0.000000|.	T|.	0.79417|.	0.4442|.	M|M	0.82323|0.82323	2.585|2.585	0.58432|0.58432	D|D	0.999996|0.999996	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.999;0.994;0.994|.	T|.	0.79349|.	-0.1840|.	10|.	0.87932|.	D|.	0|.	-28.0743|-28.0743	18.9441|18.9441	0.92615|0.92615	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	30;284;284;284|.	Q5VTH9-3;Q5TAD8;A0AVI9;Q5VTH9|.	.;.;.;WDR78_HUMAN|.	Y|L	284;30;50;284;284|17	ENSP00000360065:D284Y;ENSP00000393182:D30Y;ENSP00000433682:D50Y;ENSP00000360062:D284Y;ENSP00000360061:D284Y|.	ENSP00000360061:D284Y|.	D|X	-|-	1|2	0|2	WDR78|WDR78	67109731|67109731	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.063000|0.063000	0.16089|0.16089	4.342000|4.342000	0.59341|0.59341	2.763000|2.763000	0.94921|0.94921	0.650000|0.650000	0.86243|0.86243	GAC|TGA		0.318	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025404.1	0	NM_024763		1:67337143
HMCN1	83872	broad.mit.edu	37	1	185931765	185931765	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:185931765C>T	ENST00000271588.4	+	12	2173	c.1944C>T	c.(1942-1944)aaC>aaT	p.N648N	HMCN1_ENST00000367492.2_Silent_p.N648N|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	648	Ig-like C2-type 3.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGACCGTTAACGATATGTTTA	0.413																																						ENST00000271588.4		NA																	0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(1942-1944)aaC>aaT		hemicentin 1							207.0	190.0	196.0					1																	185931765		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185931765C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1944C>T	1.37:g.185931765C>T		False	False		Somatic	0				HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.N648N	p.N648N	NM_031935.2	NP_114141.2	WXS	Illumina HiSeq	Phase_I	Q96RW7	HMCN1_HUMAN			12	2173	+			648			Ig-like C2-type 3.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.1944C>T	CCDS30956.1																																																																																				0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	0	NM_031935		1:185931765
PFKP	5214	broad.mit.edu	37	10	3149495	3149495	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:3149495C>A	ENST00000381125.4	+	8	940	c.864C>A	c.(862-864)atC>atA	p.I288I	PFKP_ENST00000381075.2_Silent_p.I280I	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	288	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGAGAAAATCAAAGAGGTGA	0.458																																						ENST00000381075.2		NA																	0				breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(838-840)atC>atA		phosphofructokinase, platelet							64.0	64.0	64.0					10																	3149495		2199	4300	6499	SO:0001819	synonymous_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3149495C>A	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.864C>A	10.37:g.3149495C>A		True	False		Somatic	0				PFKP_ENST00000381125.4_Silent_p.I288I	p.I280I	NM_001242339.1	NP_001229268.1	WXS	Illumina HiSeq	Phase_I	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	10	1064	+			288					B3KS15|Q5VSR7|Q5VSR8	Silent	SNP	ENST00000381125.4	37	c.840C>A	CCDS7059.1																																																																																				0.458	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1	0	NM_002627		10:3149495
FEM1B	10116	broad.mit.edu	37	15	68582429	68582429	+	Missense_Mutation	SNP	G	G	T	rs375920632		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:68582429G>T	ENST00000306917.4	+	2	1348	c.733G>T	c.(733-735)Gac>Tac	p.D245Y		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	245					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TGCTGATTGCGACCGAAGAAG	0.438																																						ENST00000306917.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(733-735)Gac>Tac		fem-1 homolog b (C. elegans)							133.0	130.0	131.0					15																	68582429		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68582429G>T		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.733G>T	15.37:g.68582429G>T	ENSP00000307298:p.Asp245Tyr	False	False		Somatic	0					p.D245Y	NM_015322.3	NP_056137.1	WXS	Illumina HiSeq	Phase_I	Q9UK73	FEM1B_HUMAN			2	1348	+			245					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.733G>T	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.317944	0.60524	.	.	ENSG00000169018	ENST00000306917	T	0.60797	0.16	5.77	5.77	0.91146	Ankyrin repeat-containing domain (1);	0.041995	0.85682	D	0.000000	T	0.60483	0.2272	L	0.38175	1.15	0.80722	D	1	P	0.48694	0.914	P	0.52793	0.709	T	0.62661	-0.6807	10	0.72032	D	0.01	-13.848	14.2431	0.65971	0.0734:0.0:0.9266:0.0	.	245	Q9UK73	FEM1B_HUMAN	Y	245	ENSP00000307298:D245Y	ENSP00000307298:D245Y	D	+	1	0	FEM1B	66369483	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.746000	0.74866	2.717000	0.92951	0.555000	0.69702	GAC		0.438	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1	0			15:68582429
MGAT3	4248	broad.mit.edu	37	22	39884255	39884255	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:39884255C>A	ENST00000341184.6	+	2	1118	c.903C>A	c.(901-903)gtC>gtA	p.V301V		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	301					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					AGGACGGCGTCTCGCGGCTGC	0.657																																						ENST00000341184.6		NA																	0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(901-903)gtC>gtA		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							59.0	61.0	60.0					22																	39884255		2202	4296	6498	SO:0001819	synonymous_variant	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884255C>A	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.903C>A	22.37:g.39884255C>A		False	False		Somatic	0					p.V301V	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	WXS	Illumina HiSeq	Phase_I	Q09327	MGAT3_HUMAN			2	1118	+	Melanoma(58;0.04)		301					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	c.903C>A	CCDS13994.2																																																																																				0.657	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	0	NM_002409		22:39884255
SCN2A	6326	broad.mit.edu	37	2	166226782	166226782	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:166226782G>A	ENST00000375437.2	+	20	4112	c.3822G>A	c.(3820-3822)tgG>tgA	p.W1274*	SCN2A_ENST00000283256.6_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000357398.3_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000375427.2_Nonsense_Mutation_p.W1274*	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1274					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCAATGCCTGGTGCTGGCTAG	0.393																																						ENST00000357398.3		NA																	0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(3820-3822)tgG>tgA		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						206.0	190.0	195.0					2																	166226782		2203	4300	6503	SO:0001587	stop_gained	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166226782G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3822G>A	2.37:g.166226782G>A	ENSP00000364586:p.Trp1274*	False	False		Somatic	0				SCN2A_ENST00000375427.2_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000283256.6_Nonsense_Mutation_p.W1274*|SCN2A_ENST00000375437.2_Nonsense_Mutation_p.W1274*	p.W1274*			WXS	Illumina HiSeq	Phase_I	Q99250	SCN2A_HUMAN			20	4112	+			1274					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Nonsense_Mutation	SNP	ENST00000375437.2	37	c.3822G>A	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	G	44	10.760907	0.99463	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	.	.	.	5.97	5.97	0.96955	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	.	.	.	X	1274	.	ENSP00000283256:W1274X	W	+	3	0	SCN2A	165935028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.833000	0.97629	0.585000	0.79938	TGG		0.393	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	0	NM_021007		2:166226782
PLCH1	23007	broad.mit.edu	37	3	155241698	155241698	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:155241698G>T	ENST00000340059.7	-	10	1421	c.1422C>A	c.(1420-1422)ttC>ttA	p.F474L	PLCH1_ENST00000334686.6_Missense_Mutation_p.F456L|PLCH1_ENST00000494598.1_Missense_Mutation_p.F474L|PLCH1_ENST00000414191.1_Missense_Mutation_p.F456L|PLCH1_ENST00000447496.2_Missense_Mutation_p.F474L|PLCH1_ENST00000460012.1_Missense_Mutation_p.F456L	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	474					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AATGGAGCTTGAATTTGCACT	0.423																																						ENST00000460012.1		NA																	0				NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107						c.(1366-1368)ttC>ttA		phospholipase C, eta 1							244.0	222.0	229.0					3																	155241698		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155241698G>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1422C>A	3.37:g.155241698G>T	ENSP00000345988:p.Phe474Leu	False	False		Somatic	0				PLCH1_ENST00000447496.2_Missense_Mutation_p.F474L|PLCH1_ENST00000494598.1_Missense_Mutation_p.F474L|PLCH1_ENST00000414191.1_Missense_Mutation_p.F456L|PLCH1_ENST00000340059.7_Missense_Mutation_p.F474L|PLCH1_ENST00000334686.6_Missense_Mutation_p.F456L	p.F456L			WXS	Illumina HiSeq	Phase_I	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		11	1725	-			474					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.1368C>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	6.629	0.484579	0.12641	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32	5.48	-0.01	0.13998	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.215323	0.44483	D	0.000450	T	0.10551	0.0258	N	0.04018	-0.295	0.36115	D	0.845089	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.12837	0.008;0.003;0.001	T	0.32929	-0.9888	10	0.02654	T	1	.	2.8455	0.05541	0.3453:0.0932:0.4209:0.1405	.	456;474;474	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	L	474;456;474;474;456;456	ENSP00000419100:F474L;ENSP00000417502:F456L;ENSP00000402759:F474L;ENSP00000345988:F474L;ENSP00000335469:F456L;ENSP00000412977:F456L	ENSP00000335469:F456L	F	-	3	2	PLCH1	156724392	0.992000	0.36948	0.998000	0.56505	0.985000	0.73830	0.126000	0.15769	0.036000	0.15547	0.563000	0.77884	TTC		0.423	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	0	NM_014996		3:155241698
EVI2A	2123	broad.mit.edu	37	17	29645652	29645652	+	Missense_Mutation	SNP	G	G	A	rs139943451		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:29645652G>A	ENST00000462804.2	-	2	779	c.380C>T	c.(379-381)gCg>gTg	p.A127V	CTD-2370N5.3_ENST00000578584.1_Silent_p.C66C|EVI2A_ENST00000461237.1_Missense_Mutation_p.A127V|EVI2A_ENST00000247270.3_Missense_Mutation_p.A150V|NF1_ENST00000581113.2_Intron|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_014210.3	NP_055025.2	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	127					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		GTTGTTTTCCGCACAGACATC	0.358																																						ENST00000247270.3		NA																	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(448-450)gCg>gTg		ecotropic viral integration site 2A		G	,VAL/ALA,,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	123.0	123.0	123.0		,449,,380	-0.6	1.0	17	dbSNP_134	123	0,8600		0,0,4300	yes	intron,missense,intron,missense	EVI2A,NF1	NM_000267.3,NM_001003927.2,NM_001042492.2,NM_014210.3	,64,,64	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,benign,,benign	,150/260,,127/237	29645652	2,13004	2203	4300	6503	SO:0001583	missense	2123					integral to membrane	transmembrane receptor activity	g.chr17:29645652G>A	M55267	CCDS32608.1, CCDS42293.1	17q11.2	2008-07-18			ENSG00000126860	ENSG00000126860			3499	protein-coding gene	gene with protein product		158380		EVI2		2117566	Standard	NM_014210		Approved	EVDA	uc002hgm.3	P22794	OTTHUMG00000159306	ENST00000462804.2:c.380C>T	17.37:g.29645652G>A	ENSP00000420557:p.Ala127Val	False	False		Somatic	0				EVI2A_ENST00000462804.2_Missense_Mutation_p.A127V|NF1_ENST00000581113.2_Intron|CTD-2370N5.3_ENST00000578584.1_Silent_p.C66C|EVI2A_ENST00000461237.1_Missense_Mutation_p.A127V|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	p.A150V	NM_001003927.2	NP_001003927.1	WXS	Illumina HiSeq	Phase_I	P22794	EVI2A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)	3	785	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	127					B2R5X2|B4DHX8	Missense_Mutation	SNP	ENST00000462804.2	37	c.449C>T	CCDS42293.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794693	0.31777	4.54E-4	0.0	ENSG00000126860	ENST00000394755;ENST00000462804;ENST00000461237;ENST00000247270	.	.	.	5.71	-0.577	0.11727	.	0.306449	0.31909	N	0.006869	T	0.27454	0.0674	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.03473	-1.1033	9	0.30854	T	0.27	.	10.2437	0.43328	0.1006:0.0:0.3206:0.5788	.	127;150	P22794;P22794-2	EVI2A_HUMAN;.	V	127;123;127;150	.	ENSP00000247270:A150V	A	-	2	0	EVI2A	26669778	0.978000	0.34361	0.957000	0.39632	0.939000	0.58152	1.120000	0.31271	-0.427000	0.07350	-2.232000	0.00291	GCG		0.358	EVI2A-001	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354491.3	0	NM_014210		17:29645652
ZNF665	79788	broad.mit.edu	37	19	53669363	53669363	+	Missense_Mutation	SNP	C	C	T	rs201506528		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:53669363C>T	ENST00000600412.1	-	2	300	c.185G>A	c.(184-186)cGt>cAt	p.R62H	CTD-2245F17.2_ENST00000600257.1_RNA|ZNF665_ENST00000396424.3_Missense_Mutation_p.R127H			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	62					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)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CCTTCTATCACGTTGAGCTCT	0.393													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20617	0.0		0.0	False		,,,				2504	0.0					ENST00000600412.1		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35						c.(184-186)cGt>cAt		zinc finger protein 665							117.0	123.0	121.0					19																	53669363		2088	4240	6328	SO:0001583	missense	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53669363C>T		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.185G>A	19.37:g.53669363C>T	ENSP00000469154:p.Arg62His	False	False		Somatic	0				ZNF665_ENST00000396424.3_Missense_Mutation_p.R127H	p.R62H			WXS	Illumina HiSeq	Phase_I	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	2	300	-			62					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.185G>A		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.005	-2.190842	0.00302	.	.	ENSG00000197497	ENST00000396424	T	0.08370	3.1	1.9	-3.79	0.04320	.	.	.	.	.	T	0.00998	0.0033	N	0.00040	-2.5	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.40440	-0.9563	9	0.02654	T	1	.	6.2359	0.20762	0.0:0.5693:0.1785:0.2522	.	127	Q9H7R5-2	.	H	127	ENSP00000379702:R127H	ENSP00000379702:R127H	R	-	2	0	ZNF665	58361175	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.134000	0.03228	-1.158000	0.02811	-0.382000	0.06688	CGT		0.393	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	0	NM_024733		19:53669363
UBE4A	9354	broad.mit.edu	37	11	118250189	118250189	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:118250189C>A	ENST00000431736.2	+	11	1693	c.1621C>A	c.(1621-1623)Caa>Aaa	p.Q541K	UBE4A_ENST00000545354.1_Missense_Mutation_p.Q6K|UBE4A_ENST00000252108.3_Missense_Mutation_p.Q534K					ubiquitination factor E4A											autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AAAAATCAACCAAAATCTGCA	0.463																																						ENST00000252108.3		NA																	0				autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56						c.(1600-1602)Caa>Aaa		ubiquitination factor E4A							86.0	89.0	88.0					11																	118250189		2200	4296	6496	SO:0001583	missense	9354				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding	g.chr11:118250189C>A	D50916	CCDS8396.1, CCDS55790.1	11q23.3	2013-01-28	2011-05-19					"""U-box domain containing"""	12499	protein-coding gene	gene with protein product		603753	"""ubiquitination factor E4A (homologous to yeast UFD2)"", ""ubiquitination factor E4A (UFD2 homolog, yeast)"""			10089879	Standard	NM_004788		Approved	UBOX2, UFD2, KIAA0126, E4	uc001psv.3	Q14139	OTTHUMG00000168100	ENST00000431736.2:c.1621C>A	11.37:g.118250189C>A	ENSP00000387362:p.Gln541Lys	True	False		Somatic	0				UBE4A_ENST00000545354.1_Missense_Mutation_p.Q6K|UBE4A_ENST00000431736.2_Missense_Mutation_p.Q541K	p.Q534K	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	WXS	Illumina HiSeq	Phase_I	Q14139	UBE4A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	11	1731	+	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)	534						Missense_Mutation	SNP	ENST00000431736.2	37	c.1600C>A	CCDS8396.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.571993	0.86542	.	.	ENSG00000110344	ENST00000252108;ENST00000431736;ENST00000545354	T;T;T	0.42513	0.97;0.97;0.97	5.53	5.53	0.82687	Ubiquitin conjugation factor E4, core (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	M	0.71036	2.16	0.80722	D	1	P;P	0.42941	0.681;0.794	B;B	0.43950	0.437;0.31	T	0.44221	-0.9342	10	0.23891	T	0.37	-9.2888	19.4627	0.94924	0.0:1.0:0.0:0.0	.	534;541	Q14139;Q14139-2	UBE4A_HUMAN;.	K	534;541;6	ENSP00000252108:Q534K;ENSP00000387362:Q541K;ENSP00000438918:Q6K	ENSP00000252108:Q534K	Q	+	1	0	UBE4A	117755399	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.588000	0.87417	0.655000	0.94253	CAA		0.463	UBE4A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398143.1	0	NM_004788		11:118250189
PRKCD	5580	broad.mit.edu	37	3	53222820	53222820	+	Missense_Mutation	SNP	C	C	A	rs149751382		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:53222820C>A	ENST00000394729.2	+	15	1828	c.1500C>A	c.(1498-1500)ttC>ttA	p.F500L	PRKCD_ENST00000330452.3_Missense_Mutation_p.F500L	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	500	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	AGAACATATTCGGGGAGAGCC	0.597																																						ENST00000394729.2		NA																	0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1498-1500)ttC>ttA		protein kinase C, delta							92.0	93.0	93.0					3																	53222820		2203	4300	6503	SO:0001583	missense	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53222820C>A		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1500C>A	3.37:g.53222820C>A	ENSP00000378217:p.Phe500Leu	True	False		Somatic	0				PRKCD_ENST00000330452.3_Missense_Mutation_p.F500L	p.F500L	NM_212539.1	NP_997704.1	WXS	Illumina HiSeq	Phase_I	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	15	1828	+		Ovarian(412;0.0728)	500			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	ENST00000394729.2	37	c.1500C>A	CCDS2870.1	.	.	.	.	.	.	.	.	.	.	C	9.782	1.175623	0.21704	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.63913	-0.07;-0.07	6.07	-12.1	0.00011	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.521528	0.23696	N	0.045465	T	0.22166	0.0534	N	0.03071	-0.42	0.30448	N	0.775557	B	0.09022	0.002	B	0.13407	0.009	T	0.40117	-0.9580	10	0.06365	T	0.9	.	11.6792	0.51448	0.0:0.4833:0.244:0.2727	.	500	Q05655	KPCD_HUMAN	L	500	ENSP00000378217:F500L;ENSP00000331602:F500L	ENSP00000331602:F500L	F	+	3	2	PRKCD	53197860	0.000000	0.05858	0.000000	0.03702	0.906000	0.53458	-1.526000	0.02229	-1.962000	0.01014	-0.302000	0.09304	TTC		0.597	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1	0			3:53222820
NBN	4683	broad.mit.edu	37	8	90965576	90965576	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:90965576G>T	ENST00000265433.3	-	11	1895	c.1741C>A	c.(1741-1743)Caa>Aaa	p.Q581K	NBN_ENST00000409330.1_Missense_Mutation_p.Q499K	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	581					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TCCTGTTTTTGAACTTTCACA	0.348								Homologous recombination																														ENST00000265433.3		NA																	0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1741-1743)Caa>Aaa	Homologous recombination	nibrin							315.0	311.0	312.0					8																	90965576		2203	4299	6502	SO:0001583	missense	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90965576G>T	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1741C>A	8.37:g.90965576G>T	ENSP00000265433:p.Gln581Lys	True	False		Somatic	0				NBN_ENST00000409330.1_Missense_Mutation_p.Q499K	p.Q581K	NM_002485.4	NP_002476.2	WXS	Illumina HiSeq	Phase_I	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		11	1895	-			581					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.1741C>A	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	G	7.975	0.749994	0.15778	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.58060	1.99;0.36	5.29	0.895	0.19247	.	1.667470	0.02817	N	0.125095	T	0.38026	0.1025	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17349	-1.0372	10	0.12766	T	0.61	-0.018	9.8904	0.41288	0.0:0.5366:0.322:0.1413	.	581;581	A6H8Y5;O60934	.;NBN_HUMAN	K	581;499	ENSP00000265433:Q581K;ENSP00000386924:Q499K	ENSP00000265433:Q581K	Q	-	1	0	NBN	91034752	0.001000	0.12720	0.261000	0.24466	0.911000	0.54048	0.129000	0.15830	0.139000	0.18822	0.650000	0.86243	CAA		0.348	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	0	NM_001024688		8:90965576
PPP1R2	5504	broad.mit.edu	37	3	195245823	195245823	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:195245823G>T	ENST00000328432.3	-	5	923	c.563C>A	c.(562-564)tCa>tAa	p.S188*		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	188					generation of precursor metabolites and energy (GO:0006091)|glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of signal transduction (GO:0009966)		protein serine/threonine phosphatase inhibitor activity (GO:0004865)			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		ACCTTGATTTGATTCTTCCGT	0.338																																						ENST00000328432.3		NA																	0				endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6						c.(562-564)tCa>tAa		protein phosphatase 1, regulatory (inhibitor) subunit 2							232.0	232.0	232.0					3																	195245823		2203	4300	6503	SO:0001587	stop_gained	5504				glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity	g.chr3:195245823G>T	U68111	CCDS3309.1	3q29	2012-04-17			ENSG00000184203	ENSG00000184203	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9288	protein-coding gene	gene with protein product		601792				9126490, 8119416	Standard	XM_006713682		Approved	IPP2	uc003fup.3	P41236	OTTHUMG00000155887	ENST00000328432.3:c.563C>A	3.37:g.195245823G>T	ENSP00000328178:p.Ser188*	True	False		Somatic	0					p.S188*	NM_006241.4	NP_006232.1	WXS	Illumina HiSeq	Phase_I	P41236	IPP2_HUMAN	Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)	5	923	-	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		188						Nonsense_Mutation	SNP	ENST00000328432.3	37	c.563C>A	CCDS3309.1	.	.	.	.	.	.	.	.	.	.	G	37	6.356746	0.97502	.	.	ENSG00000184203	ENST00000328432;ENST00000438848	.	.	.	4.93	4.93	0.64822	.	0.303685	0.31415	N	0.007686	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.375	0.66867	0.0:0.0:1.0:0.0	.	.	.	.	X	188;162	.	ENSP00000328178:S188X	S	-	2	0	PPP1R2	196727112	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	2.090000	0.41682	2.663000	0.90544	0.467000	0.42956	TCA		0.338	PPP1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342133.1	0	NM_006241		3:195245823
SPAG17	200162	broad.mit.edu	37	1	118598506	118598506	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:118598506G>T	ENST00000336338.5	-	19	2637	c.2572C>A	c.(2572-2574)Caa>Aaa	p.Q858K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	858						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATCCAATCTTGAATAGATTTT	0.323																																						ENST00000336338.5		NA																	0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(2572-2574)Caa>Aaa		sperm associated antigen 17							99.0	103.0	101.0					1																	118598506		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118598506G>T		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.2572C>A	1.37:g.118598506G>T	ENSP00000337804:p.Gln858Lys	False	False		Somatic	0					p.Q858K	NM_206996.2	NP_996879.1	WXS	Illumina HiSeq	Phase_I	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	19	2637	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	858					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.2572C>A	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803426	0.31869	.	.	ENSG00000155761	ENST00000336338	T	0.29655	1.56	5.35	3.41	0.39046	.	0.697933	0.14968	N	0.287983	T	0.16171	0.0389	L	0.47716	1.5	0.21878	N	0.999499	P	0.40180	0.705	B	0.41510	0.359	T	0.03993	-1.0986	10	0.45353	T	0.12	.	13.3002	0.60321	0.0:0.4907:0.5093:0.0	.	858	Q6Q759	SPG17_HUMAN	K	858	ENSP00000337804:Q858K	ENSP00000337804:Q858K	Q	-	1	0	SPAG17	118400029	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	1.567000	0.36407	0.770000	0.33336	0.585000	0.79938	CAA		0.323	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	0	NM_206996		1:118598506
MSH6	2956	broad.mit.edu	37	2	48032777	48032777	+	Nonsense_Mutation	SNP	G	G	T	rs63751328		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:48032777G>T	ENST00000234420.5	+	7	3729	c.3577G>T	c.(3577-3579)Gaa>Taa	p.E1193*	MSH6_ENST00000538136.1_Nonsense_Mutation_p.E891*|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1063*	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	1193			E -> K (found in an endometrial cancer sample; displays marked impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity). {ECO:0000269|PubMed:15354210}.		ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATTTTTTGTTGAATTAAGTGA	0.303			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000234420.4		NA	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	"""Mis, N, F, S"""	mutS homolog 6 (E. coli)			E		"""colorectal, endometrial, ovarian"""	colorectal		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229	GRCh37	CM042751	MSH6	M	rs63751328	c.(3577-3579)Gaa>Taa	Mismatch excision repair (MMR)	mutS homolog 6							76.0	79.0	78.0					2																	48032777		2203	4300	6503	SO:0001587	stop_gained	2956	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	g.chr2:48032777G>T	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.3577G>T	2.37:g.48032777G>T	ENSP00000234420:p.Glu1193*	False	False		Somatic	0				MSH6_ENST00000538136.1_Nonsense_Mutation_p.E891*|FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Nonsense_Mutation_p.E1063*	p.E1193*	NM_000179.2	NP_000170.1	WXS	Illumina HiSeq	Phase_I	P52701	MSH6_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		7	3729	+		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	1193		E -> K (found in an endometrial cancer sample; displays marked impairment of heterodimerization with MSH2 and of in vitro mismatch repair capacity).			B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Nonsense_Mutation	SNP	ENST00000234420.5	37	c.3577G>T	CCDS1836.1	.	.	.	.	.	.	.	.	.	.	G	47	13.487868	0.99745	.	.	ENSG00000116062	ENST00000234420;ENST00000543270;ENST00000540021;ENST00000538136	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.4028	18.6051	0.91263	0.0:0.0:1.0:0.0	.	.	.	.	X	1193;159;1063;891	.	ENSP00000234420:E1193X	E	+	1	0	MSH6	47886281	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.477000	0.97925	2.622000	0.88805	0.462000	0.41574	GAA		0.303	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	0	NM_000179		2:48032777
ORAI3	93129	broad.mit.edu	37	16	30960680	30960680	+	Missense_Mutation	SNP	T	T	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:30960680T>G	ENST00000318663.4	+	1	294	c.70T>G	c.(70-72)Tcg>Gcg	p.S24A	ORAI3_ENST00000566237.1_Missense_Mutation_p.S24A|ORAI3_ENST00000562699.1_Missense_Mutation_p.S24A|AC135048.13_ENST00000566056.1_RNA	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	24					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CCCTGCAGGCTCGGCCACGTA	0.736																																						ENST00000318663.4		NA																	0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						c.(70-72)Tcg>Gcg		ORAI calcium release-activated calcium modulator 3							5.0	7.0	6.0					16																	30960680		1997	4021	6018	SO:0001583	missense	93129					integral to membrane	protein binding	g.chr16:30960680T>G	BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.70T>G	16.37:g.30960680T>G	ENSP00000322249:p.Ser24Ala	False	False		Somatic	0				AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_Missense_Mutation_p.S24A|ORAI3_ENST00000562699.1_Missense_Mutation_p.S24A	p.S24A	NM_152288.2	NP_689501.1	WXS	Illumina HiSeq	Phase_I	Q9BRQ5	ORAI3_HUMAN			1	294	+			24					Q96BI8	Missense_Mutation	SNP	ENST00000318663.4	37	c.70T>G	CCDS10697.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.385910	0.42308	.	.	ENSG00000175938	ENST00000318663;ENST00000420438	T	0.30981	1.51	5.34	4.22	0.49857	.	0.000000	0.43416	D	0.000562	T	0.15609	0.0376	N	0.19112	0.55	0.29807	N	0.831965	B	0.16603	0.018	B	0.16722	0.016	T	0.24404	-1.0161	10	0.10902	T	0.67	-5.3366	5.6272	0.17488	0.1518:0.0818:0.0:0.7664	.	24	Q9BRQ5	ORAI3_HUMAN	A	24	ENSP00000322249:S24A	ENSP00000322249:S24A	S	+	1	0	ORAI3	30868181	0.003000	0.15002	0.999000	0.59377	0.858000	0.48976	0.638000	0.24674	0.816000	0.34421	0.402000	0.26972	TCG		0.736	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255545.20	0	NM_152288		16:30960680
NGLY1	55768	broad.mit.edu	37	3	25770651	25770651	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:25770651G>T	ENST00000280700.5	-	10	1744	c.1584C>A	c.(1582-1584)ttC>ttA	p.F528L	NGLY1_ENST00000396649.3_Missense_Mutation_p.F528L|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000467224.1_5'UTR|NGLY1_ENST00000417874.2_Missense_Mutation_p.F486L|NGLY1_ENST00000428257.1_Missense_Mutation_p.F510L	NM_018297.3	NP_060767.2	Q96IV0	NGLY1_HUMAN	N-glycanase 1	528	PAW. {ECO:0000255|PROSITE- ProRule:PRU00731}.				glycoprotein catabolic process (GO:0006516)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity (GO:0000224)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CAACTTTTCTGAATATAGATT	0.313																																						ENST00000428257.1		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						c.(1528-1530)ttC>ttA		N-glycanase 1							128.0	119.0	122.0					3																	25770651		2202	4299	6501	SO:0001583	missense	55768				glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	g.chr3:25770651G>T	AF250924	CCDS33719.1, CCDS46777.1, CCDS46778.1, CCDS46779.1	3p23	2006-08-30			ENSG00000151092	ENSG00000151092			17646	protein-coding gene	gene with protein product		610661					Standard	NM_018297		Approved	FLJ11005, PNG1	uc003cdl.3	Q96IV0	OTTHUMG00000155600	ENST00000280700.5:c.1584C>A	3.37:g.25770651G>T	ENSP00000280700:p.Phe528Leu	False	False		Somatic	0				NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000396649.3_Missense_Mutation_p.F528L|NGLY1_ENST00000280700.5_Missense_Mutation_p.F528L|NGLY1_ENST00000417874.2_Missense_Mutation_p.F486L|NGLY1_ENST00000467224.1_5'UTR	p.F510L	NM_001145293.1	NP_001138765.1	WXS	Illumina HiSeq	Phase_I	Q96IV0	NGLY1_HUMAN			10	1637	-			528			PAW.		B4DJE9|Q59FB1|Q6PJD8|Q9BVR8|Q9NR70	Missense_Mutation	SNP	ENST00000280700.5	37	c.1530C>A	CCDS33719.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857742	0.71834	.	.	ENSG00000151092	ENST00000428257;ENST00000280700;ENST00000396649;ENST00000308710;ENST00000417874	D;D;D;D	0.95918	-3.85;-3.85;-3.85;-3.85	5.82	4.0	0.46444	Peptide N glycanase, PAW domain (3);Galactose-binding domain-like (1);	0.199148	0.53938	D	0.000042	D	0.96706	0.8925	M	0.82193	2.58	0.80722	D	1	D;D;P;D	0.69078	0.997;0.966;0.937;0.993	P;P;P;P	0.61397	0.888;0.466;0.814;0.618	D	0.96101	0.9069	10	0.59425	D	0.04	-7.2391	7.6939	0.28583	0.1442:0.3228:0.533:0.0	.	486;510;528;528	B4DJE9;Q96IV0-2;Q96IV0-3;Q96IV0	.;.;.;NGLY1_HUMAN	L	510;528;528;507;486	ENSP00000387430:F510L;ENSP00000280700:F528L;ENSP00000307980:F507L;ENSP00000389888:F486L	ENSP00000280700:F528L	F	-	3	2	NGLY1	25745655	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.762000	0.47597	1.439000	0.47511	0.561000	0.74099	TTC		0.313	NGLY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340832.2	0			3:25770651
ST6GAL1	6480	broad.mit.edu	37	3	186791961	186791961	+	Silent	SNP	G	G	T	rs369650964		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:186791961G>T	ENST00000169298.3	+	7	1493	c.819G>T	c.(817-819)ccG>ccT	p.P273P	ST6GAL1_ENST00000457772.2_Silent_p.P42P|ST6GAL1_ENST00000448044.1_Silent_p.P273P	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	273					cellular protein metabolic process (GO:0044267)|humoral immune response (GO:0006959)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)|sialyltransferase activity (GO:0008373)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		ACCAGAATCCGGATTATAATT	0.483																																						ENST00000169298.3		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(817-819)ccG>ccT		ST6 beta-galactosamide alpha-2,6-sialyltranferase 1							95.0	100.0	98.0					3																	186791961		2203	4300	6503	SO:0001819	synonymous_variant	6480				humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	g.chr3:186791961G>T	X62822	CCDS3285.1, CCDS46973.1	3q27-q28	2013-02-26	2003-01-14	2005-02-07	ENSG00000073849	ENSG00000073849	2.4.99.1		10860	protein-coding gene	gene with protein product	"""ST6Gal I"""	109675	"""sialyltransferase 1 (beta-galactoside alpha-2,6-sialytransferase)"""	SIAT1		2408023	Standard	NM_003032		Approved		uc003frd.3	P15907	OTTHUMG00000156500	ENST00000169298.3:c.819G>T	3.37:g.186791961G>T		False	False		Somatic	0				ST6GAL1_ENST00000457772.2_Silent_p.P42P|ST6GAL1_ENST00000448044.1_Silent_p.P273P	p.P273P	NM_173216.2	NP_775323.1	WXS	Illumina HiSeq	Phase_I	P15907	SIAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)	7	1493	+	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		273					A8KA14|B2R513|D3DNV3	Silent	SNP	ENST00000169298.3	37	c.819G>T	CCDS3285.1																																																																																				0.483	ST6GAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344399.1	0	NM_173216		3:186791961
DARS	1615	broad.mit.edu	37	2	136673918	136673918	+	Silent	SNP	C	C	A	rs375578989		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:136673918C>A	ENST00000264161.4	-	11	1199	c.984G>T	c.(982-984)gtG>gtT	p.V328V	DARS_ENST00000537273.1_Silent_p.V228V	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase	328					aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	ACTGTTTATTCACTGTTTGAA	0.368																																						ENST00000264161.4		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15						c.(982-984)gtG>gtT		aspartyl-tRNA synthetase	L-Aspartic Acid(DB00128)						127.0	125.0	126.0					2																	136673918		2203	4300	6503	SO:0001819	synonymous_variant	1615				aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding	g.chr2:136673918C>A	J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.984G>T	2.37:g.136673918C>A		False	False		Somatic	0				DARS_ENST00000537273.1_Silent_p.V228V	p.V328V	NM_001349.2	NP_001340.2	WXS	Illumina HiSeq	Phase_I	P14868	SYDC_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.168)	11	1199	-			328					A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Silent	SNP	ENST00000264161.4	37	c.984G>T	CCDS2180.1																																																																																				0.368	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5	0	NM_001349		2:136673918
AHNAK	79026	broad.mit.edu	37	11	62292931	62292931	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:62292931G>T	ENST00000378024.4	-	5	9232	c.8958C>A	c.(8956-8958)ccC>ccA	p.P2986P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2986					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCCACTTTGGGCAGAGAAA	0.537																																						ENST00000378024.4		NA																	0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(8956-8958)ccC>ccA		AHNAK nucleoprotein							141.0	150.0	147.0					11																	62292931		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62292931G>T	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8958C>A	11.37:g.62292931G>T		True	False		Somatic	0				AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P2986P	NM_001620.1	NP_001611.1	WXS	Illumina HiSeq	Phase_I	Q09666	AHNK_HUMAN			5	9232	-		Melanoma(852;0.155)	2986					A1A586	Silent	SNP	ENST00000378024.4	37	c.8958C>A	CCDS31584.1																																																																																				0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	0	NM_024060		11:62292931
COX7A2	1347	broad.mit.edu	37	6	75950955	75950955	+	Silent	SNP	C	C	A	rs139079443	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:75950955C>A	ENST00000230459.4	-	2	238	c.45G>T	c.(43-45)acG>acT	p.T15T	COX7A2_ENST00000472311.2_Silent_p.T15T|COX7A2_ENST00000509698.1_Silent_p.T15T|COX7A2_ENST00000370081.2_Silent_p.T47T|COX7A2_ENST00000370089.2_Silent_p.T47T|COX7A2_ENST00000460985.1_Intron	NM_001865.3	NP_001856.2	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	15						extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)	p.T15T(1)		kidney(2)|lung(1)	3						CAGTGCTTATCGTCCTCTGCC	0.358																																						ENST00000370081.2		NA																	1	Substitution - coding silent(1)	p.T15T(1)	lung(1)	kidney(2)|lung(1)	3						c.(139-141)acG>acT		cytochrome c oxidase subunit VIIa polypeptide 2 (liver)							89.0	101.0	97.0					6																	75950955		2203	4300	6503	SO:0001819	synonymous_variant	1347					mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr6:75950955C>A	X15822	CCDS34486.1, CCDS34486.2	6q14.1	2011-07-04			ENSG00000112695	ENSG00000112695	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2288	protein-coding gene	gene with protein product		123996				1327965, 9202412	Standard	NM_001865		Approved	COXVIIa-L, COX7AL	uc003phv.2	P14406	OTTHUMG00000015049	ENST00000230459.4:c.45G>T	6.37:g.75950955C>A		False	False		Somatic	0				COX7A2_ENST00000472311.2_Silent_p.T15T|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000509698.1_Silent_p.T15T|COX7A2_ENST00000230459.4_Silent_p.T15T|COX7A2_ENST00000370089.2_Silent_p.T47T	p.T47T			WXS	Illumina HiSeq	Phase_I	P14406	CX7A2_HUMAN			3	451	-			15					B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	Silent	SNP	ENST00000230459.4	37	c.141G>T																																																																																					0.358	COX7A2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_001865		6:75950955
CRELD1	78987	broad.mit.edu	37	3	9982708	9982708	+	Missense_Mutation	SNP	C	C	G	rs138336691	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:9982708C>G	ENST00000383811.3	+	5	1234	c.635C>G	c.(634-636)tCg>tGg	p.S212W	CRELD1_ENST00000397170.3_Missense_Mutation_p.S212W|CRELD1_ENST00000326434.5_Missense_Mutation_p.S212W|CRELD1_ENST00000452070.1_Missense_Mutation_p.S212W	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	212					cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						CTGGTATGTTCGGGTAGGTAG	0.632																																						ENST00000383811.3		NA																	0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						c.(634-636)tCg>tGg		cysteine-rich with EGF-like domains 1							74.0	73.0	73.0					3																	9982708		2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9982708C>G	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.635C>G	3.37:g.9982708C>G	ENSP00000373322:p.Ser212Trp	True	False		Somatic	0				CRELD1_ENST00000452070.1_Missense_Mutation_p.S212W|CRELD1_ENST00000326434.5_Missense_Mutation_p.S212W|CRELD1_ENST00000397170.3_Missense_Mutation_p.S212W	p.S212W	NM_015513.4	NP_056328.2	WXS	Illumina HiSeq	Phase_I	Q96HD1	CREL1_HUMAN			5	1234	+			212					A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.635C>G	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.448710	0.63178	.	.	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.33	3.34	0.38264	EGF-like, laminin (1);Growth factor, receptor (1);	0.236302	0.35436	N	0.003208	D	0.88451	0.6440	L	0.49571	1.57	0.58432	D	0.999999	D;D	0.69078	0.979;0.997	B;P	0.60682	0.435;0.878	D	0.86591	0.1860	9	.	.	.	.	9.4454	0.38695	0.1529:0.7599:0.0:0.0871	.	212;212	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	W	212	ENSP00000380355:S212W;ENSP00000373322:S212W;ENSP00000393643:S212W;ENSP00000321856:S212W	.	S	+	2	0	CRELD1	9957708	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.517000	0.53443	1.252000	0.44001	0.561000	0.74099	TCG		0.632	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	0	NM_015513		3:9982708
POLR2A	5430	broad.mit.edu	37	17	7405902	7405902	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:7405902C>T	ENST00000322644.6	+	16	3037	c.2638C>T	c.(2638-2640)Cgg>Tgg	p.R880W		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	880					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CGCGACTGTGCGGAACTCCAT	0.567																																						ENST00000322644.6		NA																	0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50						c.(2638-2640)Cgg>Tgg		polymerase (RNA) II (DNA directed) polypeptide A, 220kDa							102.0	89.0	93.0					17																	7405902		2203	4300	6503	SO:0001583	missense	5430				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	g.chr17:7405902C>T			17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.2638C>T	17.37:g.7405902C>T	ENSP00000314949:p.Arg880Trp	False	False		Somatic	0					p.R880W	NM_000937.4	NP_000928.1	WXS	Illumina HiSeq	Phase_I	P24928	RPB1_HUMAN			16	3037	+		Prostate(122;0.173)	880					A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	c.2638C>T	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.240160	0.58995	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.74209	-0.82	5.82	0.84	0.18912	RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.91633	0.7356	H	0.99261	4.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94164	0.7417	10	0.87932	D	0	-8.9938	16.4899	0.84198	0.586:0.414:0.0:0.0	.	880	P24928	RPB1_HUMAN	W	836;880	ENSP00000314949:R880W	ENSP00000314949:R880W	R	+	1	2	SLC35G6	7346626	0.997000	0.39634	0.583000	0.28640	0.434000	0.31775	0.766000	0.26560	-0.013000	0.14199	-0.808000	0.03180	CGG		0.567	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	0	NM_000937		17:7405902
ZNF287	57336	broad.mit.edu	37	17	16456304	16456304	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:16456304C>A	ENST00000395824.1	-	6	1769	c.1152G>T	c.(1150-1152)ctG>ctT	p.L384L	ZNF287_ENST00000395825.3_Silent_p.L384L			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	377					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|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)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTTGGTGTTTCAGGAGGGATG	0.393																																						ENST00000395824.1		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20						c.(1150-1152)ctG>ctT		zinc finger protein 287							158.0	148.0	151.0					17																	16456304		2203	4300	6503	SO:0001819	synonymous_variant	57336				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:16456304C>A	AF217227	CCDS11179.2	17p11.2	2013-01-09			ENSG00000141040	ENSG00000141040		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13502	protein-coding gene	gene with protein product							Standard	NM_020653		Approved	ZKSCAN13, ZSCAN45	uc002gqi.2	Q9HBT7	OTTHUMG00000058993	ENST00000395824.1:c.1152G>T	17.37:g.16456304C>A		True	False		Somatic	0				ZNF287_ENST00000395825.3_Silent_p.L384L	p.L384L			WXS	Illumina HiSeq	Phase_I	Q9HBT7	ZN287_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.083)	6	1769	-			377					Q6IAG1	Silent	SNP	ENST00000395824.1	37	c.1152G>T	CCDS11179.2																																																																																				0.393	ZNF287-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130504.1	0			17:16456304
SLC9C1	285335	broad.mit.edu	37	3	111999618	111999618	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:111999618C>A	ENST00000305815.5	-	3	353	c.101G>T	c.(100-102)cGg>cTg	p.R34L	SLC9C1_ENST00000487372.1_Missense_Mutation_p.R34L|SLC9C1_ENST00000467397.1_5'UTR	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	34					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TTCCAAGTGCCGGTTCAAAAA	0.323																																						ENST00000305815.5		NA																	0					NA						c.(100-102)cGg>cTg		solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1							60.0	63.0	62.0					3																	111999618		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111999618C>A	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.101G>T	3.37:g.111999618C>A	ENSP00000306627:p.Arg34Leu	False	False		Somatic	0				SLC9C1_ENST00000487372.1_Missense_Mutation_p.R34L|SLC9C1_ENST00000467397.1_5'UTR	p.R34L	NM_183061.1	NP_898884.1	WXS	Illumina HiSeq	Phase_I	Q4G0N8	S9A10_HUMAN			3	353	-			34					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.101G>T	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	C	1.595	-0.528154	0.04112	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.78816	-1.21;-1.14	5.65	0.661	0.17874	Cation/H+ exchanger (1);	1.087840	0.07143	N	0.847775	T	0.45135	0.1327	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.33752	-0.9856	10	0.11182	T	0.66	.	0.8922	0.01256	0.5032:0.1675:0.1715:0.1578	.	34;34	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	L	34	ENSP00000306627:R34L;ENSP00000420688:R34L	ENSP00000306627:R34L	R	-	2	0	SLC9A10	113482308	0.213000	0.23551	0.447000	0.26932	0.947000	0.59692	0.504000	0.22626	0.094000	0.17404	-0.513000	0.04457	CGG		0.323	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	0	NM_183061		3:111999618
NAT8	9027	broad.mit.edu	37	2	73868603	73868603	+	Silent	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:73868603G>A	ENST00000272425.3	-	2	302	c.153C>T	c.(151-153)ctC>ctT	p.L51L		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)									p.L51L(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GGAGTAGGGCGAGGGGCCCCC	0.612																																						ENST00000272425.3		NA																	1	Substitution - coding silent(1)	p.L51L(1)	kidney(1)	breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						c.(151-153)ctC>ctT		N-acetyltransferase 8 (GCN5-related, putative)							75.0	89.0	84.0					2																	73868603		2203	4300	6503	SO:0001819	synonymous_variant	9027				gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity	g.chr2:73868603G>A	AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.153C>T	2.37:g.73868603G>A		False	False		Somatic	0					p.L51L	NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	WXS	Illumina HiSeq	Phase_I	Q9UHE5	NAT8_HUMAN			2	302	-			51						Silent	SNP	ENST00000272425.3	37	c.153C>T	CCDS1926.1																																																																																				0.612	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327854.1	0	NM_003960		2:73868603
EXPH5	23086	broad.mit.edu	37	11	108381503	108381503	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:108381503G>T	ENST00000265843.4	-	6	4841	c.4731C>A	c.(4729-4731)acC>acA	p.T1577T	EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Silent_p.T1570T|EXPH5_ENST00000443411.1_Silent_p.T1389T|EXPH5_ENST00000428840.1_Silent_p.T1501T	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1577					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATCCAAGTTGGTTTTATTTT	0.418																																						ENST00000265843.4		NA																	0				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91						c.(4729-4731)acC>acA		exophilin 5							165.0	154.0	158.0					11																	108381503		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108381503G>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4731C>A	11.37:g.108381503G>T		False	False		Somatic	0				EXPH5_ENST00000443411.1_Silent_p.T1389T|EXPH5_ENST00000525344.1_Silent_p.T1570T|EXPH5_ENST00000428840.1_Silent_p.T1501T	p.T1577T	NM_015065.2	NP_055880.2	WXS	Illumina HiSeq	Phase_I	Q149M6	Q149M6_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	4841	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1577					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.4731C>A	CCDS8341.1																																																																																				0.418	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	0	NM_015065		11:108381503
FYCO1	79443	broad.mit.edu	37	3	46003868	46003868	+	Nonsense_Mutation	SNP	C	C	A	rs148106976		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:46003868C>A	ENST00000296137.2	-	11	3491	c.3286G>T	c.(3286-3288)Gaa>Taa	p.E1096*	FYCO1_ENST00000535325.1_Nonsense_Mutation_p.E1096*	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1096					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GTGGCTTTTTCGAGTTCCTTC	0.483																																						ENST00000296137.2		NA																	0				NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54						c.(3286-3288)Gaa>Taa		FYVE and coiled-coil domain containing 1							226.0	235.0	232.0					3																	46003868		2203	4300	6503	SO:0001587	stop_gained	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46003868C>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3286G>T	3.37:g.46003868C>A	ENSP00000296137:p.Glu1096*	True	False		Somatic	0				FYCO1_ENST00000535325.1_Nonsense_Mutation_p.E1096*	p.E1096*	NM_024513.3	NP_078789.2	WXS	Illumina HiSeq	Phase_I	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	11	3491	-			1096					B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Nonsense_Mutation	SNP	ENST00000296137.2	37	c.3286G>T	CCDS2734.1	.	.	.	.	.	.	.	.	.	.	C	42	9.285028	0.99125	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	.	.	.	5.91	2.19	0.27852	.	0.730351	0.13906	N	0.354608	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-5.7671	5.0616	0.14560	0.1344:0.5818:0.0:0.2838	.	.	.	.	X	1096	.	ENSP00000296137:E1096X	E	-	1	0	FYCO1	45978872	0.023000	0.18921	0.007000	0.13788	0.360000	0.29518	1.351000	0.34022	0.413000	0.25759	-0.137000	0.14449	GAA		0.483	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	0	NM_024513		3:46003868
SLC39A10	57181	broad.mit.edu	37	2	196548428	196548428	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:196548428G>T	ENST00000409086.3	+	3	1289	c.1014G>T	c.(1012-1014)ttG>ttT	p.L338F	SLC39A10_ENST00000541054.1_5'UTR|SLC39A10_ENST00000359634.5_Missense_Mutation_p.L338F	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	338					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TGCAGTGTTTGAACGTCACTC	0.313																																						ENST00000409086.3		NA																	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34						c.(1012-1014)ttG>ttT		solute carrier family 39 (zinc transporter), member 10							118.0	111.0	113.0					2																	196548428		2203	4300	6503	SO:0001583	missense	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196548428G>T		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1014G>T	2.37:g.196548428G>T	ENSP00000386766:p.Leu338Phe	True	False		Somatic	0				SLC39A10_ENST00000359634.5_Missense_Mutation_p.L338F|SLC39A10_ENST00000541054.1_5'UTR	p.L338F	NM_001127257.1	NP_001120729.1	WXS	Illumina HiSeq	Phase_I	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		3	1289	+			338					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	c.1014G>T	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782450	0.49891	.	.	ENSG00000196950	ENST00000409086;ENST00000359634	T;T	0.69435	-0.4;-0.4	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.72407	0.3456	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68401	-0.5418	10	0.06236	T	0.91	.	9.6188	0.39708	0.1242:0.0:0.8758:0.0	.	338	Q9ULF5	S39AA_HUMAN	F	338	ENSP00000386766:L338F;ENSP00000352655:L338F	ENSP00000352655:L338F	L	+	3	2	SLC39A10	196256673	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.893000	0.56243	2.656000	0.90262	0.650000	0.86243	TTG		0.313	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	0	XM_047707		2:196548428
RALGPS2	55103	broad.mit.edu	37	1	178855151	178855151	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:178855151C>A	ENST00000367635.3	+	13	1426	c.1088C>A	c.(1087-1089)cCa>cAa	p.P363Q	RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000367634.2_Missense_Mutation_p.P363Q	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	363					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						GCAACGTTTCCAAATGCAGGA	0.358																																						ENST00000367635.3		NA																	0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1087-1089)cCa>cAa		Ral GEF with PH domain and SH3 binding motif 2							76.0	78.0	77.0					1																	178855151		2203	4300	6503	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178855151C>A	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1088C>A	1.37:g.178855151C>A	ENSP00000356607:p.Pro363Gln	True	False		Somatic	0				RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000324778.4_Missense_Mutation_p.P328Q|RALGPS2_ENST00000367634.2_Missense_Mutation_p.P363Q	p.P363Q	NM_152663.3	NP_689876.2	WXS	Illumina HiSeq	Phase_I	Q86X27	RGPS2_HUMAN			13	1426	+			363					B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.1088C>A	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679844	0.88542	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778;ENST00000535251	T;T;T	0.43688	0.94;0.94;0.94	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	M	0.71036	2.16	0.80722	D	1	D;P	0.59357	0.985;0.893	P;P	0.57057	0.812;0.614	T	0.63427	-0.6640	10	0.62326	D	0.03	.	19.1111	0.93317	0.0:1.0:0.0:0.0	.	363;363	B7Z7B1;Q86X27	.;RGPS2_HUMAN	Q	363;363;328;12	ENSP00000356607:P363Q;ENSP00000356606:P363Q;ENSP00000313613:P328Q	ENSP00000313613:P328Q	P	+	2	0	RALGPS2	177121774	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.318000	0.79029	2.623000	0.88846	0.655000	0.94253	CCA		0.358	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	0	NM_152663		1:178855151
TBC1D3F	84218	broad.mit.edu	37	17	36288200	36288200	+	Missense_Mutation	SNP	G	G	T	rs571053907		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:36288200G>T	ENST00000327454.6	+	6	432	c.286G>T	c.(286-288)Gat>Tat	p.D96Y	TBC1D3F_ENST00000539424.1_Missense_Mutation_p.D16Y|TBC1D3F_ENST00000378174.5_Missense_Mutation_p.D96Y|TBC1D3F_ENST00000505415.1_Missense_Mutation_p.D96Y	NM_032258.2	NP_115634.2	A6NER0	TBC3F_HUMAN	TBC1 domain family, member 3F	96						plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			liver(1)|pancreas(1)	2						ACAGCTCATAGATCGAGCGTA	0.557																																						ENST00000539424.1		NA																	0				liver(1)|pancreas(1)	2						c.(46-48)Gat>Tat		TBC1 domain family, member 3F							100.0	67.0	77.0					17																	36288200		876	1983	2859	SO:0001583	missense	84218					intracellular	Rab GTPase activator activity	g.chr17:36288200G>T			17q12	2014-09-16				ENSG00000275954			18257	protein-coding gene	gene with protein product		610809				16863688	Standard	NM_032258		Approved			A6NER0	OTTHUMG00000188428	ENST00000327454.6:c.286G>T	17.37:g.36288200G>T	ENSP00000329256:p.Asp96Tyr	False	False		Somatic	0				TBC1D3F_ENST00000327454.6_Missense_Mutation_p.D96Y|TBC1D3F_ENST00000378174.5_Missense_Mutation_p.D96Y|TBC1D3F_ENST00000505415.1_Missense_Mutation_p.D96Y	p.D16Y			WXS	Illumina HiSeq	Phase_I	A6NER0	TBC3F_HUMAN			2	1711	+			96						Missense_Mutation	SNP	ENST00000327454.6	37	c.46G>T	CCDS45657.1	.	.	.	.	.	.	.	.	.	.	g	10.12	1.263192	0.23051	.	.	ENSG00000185128	ENST00000327454;ENST00000378174;ENST00000505415;ENST00000539424	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	.	.	.	Rab-GAP/TBC domain (2);	20.140600	0.01652	U	0.024604	T	0.48223	0.1488	M	0.61703	1.905	0.26175	N	0.979819	P;D;P;D	0.71674	0.629;0.996;0.835;0.998	B;P;P;P	0.62089	0.122;0.885;0.547;0.898	T	0.33292	-0.9874	9	0.66056	D	0.02	.	5.9051	0.18992	8.0E-4:0.0:0.9992:0.0	.	96;96;96;96	B9A6J9;A6NFD7;P0C7X1;A6NER0	.;.;TBC3H_HUMAN;TBC3F_HUMAN	Y	96;96;96;16	ENSP00000329256:D96Y;ENSP00000367416:D96Y;ENSP00000421962:D96Y;ENSP00000443859:D16Y	ENSP00000329256:D96Y	D	+	1	0	TBC1D3F	33362582	1.000000	0.71417	0.115000	0.21578	0.115000	0.19883	3.514000	0.53422	0.119000	0.18210	0.121000	0.15741	GAT		0.557	TBC1D3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256100.3	0	NM_032258.2		17:36288200
KIR2DL3	3804	broad.mit.edu	37	19	55263867	55263867	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:55263867C>A	ENST00000342376.3	+	8	953	c.922C>A	c.(922-924)Cac>Aac	p.H308N	CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	308					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		ACAGTTGAATCACTGCGTTTT	0.502																																						ENST00000342376.3		NA																	0				breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21						c.(922-924)Cac>Aac		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3							210.0	217.0	215.0					19																	55263867		2039	4010	6049	SO:0001583	missense	3804							g.chr19:55263867C>A	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.922C>A	19.37:g.55263867C>A	ENSP00000342215:p.His308Asn	False	False		Somatic	0				KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron	p.H308N	NM_015868.2	NP_056952.2	WXS	Illumina HiSeq	Phase_I				GBM - Glioblastoma multiforme(193;0.0192)	8	953	+			NA					O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	Missense_Mutation	SNP	ENST00000342376.3	37	c.922C>A	CCDS33107.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430494	0.25726	.	.	ENSG00000243772	ENST00000342376	T	0.00464	7.24	1.06	1.06	0.20224	.	.	.	.	.	T	0.01489	0.0048	M	0.92507	3.315	0.09310	N	0.999999	P;P;P	0.44986	0.769;0.847;0.847	P;P;P	0.61397	0.888;0.544;0.544	T	0.26573	-1.0099	9	0.87932	D	0	.	5.5228	0.16941	0.0:1.0:0.0:0.0	.	210;308;308	P43628-2;P43628;E3NZD8	.;KI2L3_HUMAN;.	N	308	ENSP00000342215:H308N	ENSP00000342215:H308N	H	+	1	0	KIR2DL3	59955679	0.005000	0.15991	0.002000	0.10522	0.012000	0.07955	1.002000	0.29796	0.889000	0.36185	0.298000	0.19748	CAC		0.502	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1	0			19:55263867
BCS1L	617	broad.mit.edu	37	2	219525978	219525978	+	Missense_Mutation	SNP	C	C	A	rs369691608		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:219525978C>A	ENST00000431802.1	+	2	967	c.268C>A	c.(268-270)Cgc>Agc	p.R90S	ZNF142_ENST00000411696.2_5'Flank|BCS1L_ENST00000392111.2_Missense_Mutation_p.R90S|ZNF142_ENST00000449707.1_5'Flank|BCS1L_ENST00000412366.1_Missense_Mutation_p.R90S|BCS1L_ENST00000392110.2_Missense_Mutation_p.R90S|BCS1L_ENST00000392109.1_Missense_Mutation_p.R90S|BCS1L_ENST00000439945.1_Missense_Mutation_p.R90S|BCS1L_ENST00000359273.3_Missense_Mutation_p.R90S			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	90					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGAGTGGCCGCATTTCCAC	0.522																																						ENST00000431802.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8						c.(268-270)Cgc>Agc		BC1 (ubiquinol-cytochrome c reductase) synthesis-like							120.0	125.0	124.0					2																	219525978		2203	4300	6503	SO:0001583	missense	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219525978C>A	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.268C>A	2.37:g.219525978C>A	ENSP00000413908:p.Arg90Ser	False	False		Somatic	0				BCS1L_ENST00000359273.3_Missense_Mutation_p.R90S|BCS1L_ENST00000392109.1_Missense_Mutation_p.R90S|BCS1L_ENST00000392110.2_Missense_Mutation_p.R90S|BCS1L_ENST00000439945.1_Missense_Mutation_p.R90S|BCS1L_ENST00000392111.2_Missense_Mutation_p.R90S|BCS1L_ENST00000412366.1_Missense_Mutation_p.R90S	p.R90S			WXS	Illumina HiSeq	Phase_I	Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	967	+		Renal(207;0.0474)	90					B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	37	c.268C>A	CCDS2419.1	.	.	.	.	.	.	.	.	.	.	C	7.689	0.690688	0.15039	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000423377;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.96073	-3.9;-3.9;-2.29;-2.29;-2.29;-2.93;-2.29;-2.29;-2.29;-2.29	5.6	4.73	0.59995	BCS1, N-terminal (1);	0.121283	0.56097	D	0.000032	D	0.90195	0.6935	N	0.24115	0.695	0.51233	D	0.999917	B	0.24483	0.104	B	0.27262	0.078	D	0.85611	0.1258	10	0.08381	T	0.77	-10.8847	14.3379	0.66603	0.0:0.9291:0.0:0.0709	.	90	Q9Y276	BCS1_HUMAN	S	90	ENSP00000398957:R90S;ENSP00000395440:R90S;ENSP00000352219:R90S;ENSP00000375957:R90S;ENSP00000375958:R90S;ENSP00000397293:R90S;ENSP00000375959:R90S;ENSP00000406494:R90S;ENSP00000404999:R90S;ENSP00000413908:R90S	ENSP00000352219:R90S	R	+	1	0	BCS1L	219234222	1.000000	0.71417	0.881000	0.34555	0.983000	0.72400	5.933000	0.70130	1.367000	0.46095	0.655000	0.94253	CGC		0.522	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	0	NM_004328		2:219525978
MYH4	4622	broad.mit.edu	37	17	10357158	10357158	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:10357158C>A	ENST00000255381.2	-	23	2846	c.2736G>T	c.(2734-2736)ttG>ttT	p.L912F	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	912					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGTTTTAATCAACTGATCAC	0.408																																						ENST00000255381.2		NA																	0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(2734-2736)ttG>ttT		myosin, heavy chain 4, skeletal muscle							286.0	264.0	271.0					17																	10357158		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10357158C>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2736G>T	17.37:g.10357158C>A	ENSP00000255381:p.Leu912Phe	False	False		Somatic	0				CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.L912F	NM_017533.2	NP_060003.2	WXS	Illumina HiSeq	Phase_I	Q9Y623	MYH4_HUMAN			23	2846	-			912						Missense_Mutation	SNP	ENST00000255381.2	37	c.2736G>T	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402888	0.42613	.	.	ENSG00000141048	ENST00000255381	D	0.95412	-3.7	5.43	-1.39	0.08997	.	0.000000	0.30639	U	0.009189	D	0.98157	0.9391	H	0.98786	4.33	0.44289	D	0.997154	D	0.89917	1.0	D	0.83275	0.996	D	0.95774	0.8811	10	0.87932	D	0	.	7.1582	0.25649	0.0:0.4773:0.2067:0.316	.	912	Q9Y623	MYH4_HUMAN	F	912	ENSP00000255381:L912F	ENSP00000255381:L912F	L	-	3	2	MYH4	10297883	0.989000	0.36119	0.401000	0.26359	0.842000	0.47809	0.287000	0.18920	-0.112000	0.11979	-0.886000	0.02939	TTG		0.408	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	0	NM_017533		17:10357158
UNG	7374	broad.mit.edu	37	12	109547720	109547720	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:109547720C>A	ENST00000242576.2	+	7	994	c.888C>A	c.(886-888)acC>acA	p.T296T	UNG_ENST00000336865.2_Silent_p.T287T|RP11-968O1.5_ENST00000541704.2_RNA	NM_080911.2	NP_550433.1			uracil-DNA glycosylase											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TTTCAAAGACCAATGAGCTGC	0.478								Base excision repair (BER), DNA glycosylases	Immune Deficiency with Hyper-IgM																													ENST00000336865.2		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(859-861)acC>acA	Base excision repair (BER), DNA glycosylases	uracil-DNA glycosylase							97.0	95.0	96.0					12																	109547720		2203	4300	6503	SO:0001819	synonymous_variant	7374	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	base-excision repair|interspecies interaction between organisms	mitochondrion|nucleus	protein binding|uracil DNA N-glycosylase activity	g.chr12:109547720C>A	A64377	CCDS9124.1, CCDS9125.1	12q23-q24.1	2014-09-17			ENSG00000076248	ENSG00000076248	3.2.2.27		12572	protein-coding gene	gene with protein product	"""uracil-DNA glycosylase 1, uracil-DNA glycosylase 2"""	191525		DGU		1923798, 17101234	Standard	NM_080911		Approved	UDG, UNG1, UNG2, HIGM4	uc001tnz.2	P13051	OTTHUMG00000169247	ENST00000242576.2:c.888C>A	12.37:g.109547720C>A		False	False		Somatic	0				UNG_ENST00000242576.2_Silent_p.T296T	p.T287T	NM_003362.3	NP_003353.1	WXS	Illumina HiSeq	Phase_I	P13051	UNG_HUMAN			6	1070	+			296						Silent	SNP	ENST00000242576.2	37	c.861C>A	CCDS9124.1	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423234	0.25639	.	.	ENSG00000076248	ENST00000542183	.	.	.	5.82	4.02	0.46733	.	.	.	.	.	T	0.60340	0.2261	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61252	-0.7100	5	0.87932	D	0	-14.9663	4.4685	0.11701	0.2511:0.5308:0.0:0.2181	.	.	.	.	Q	50	.	ENSP00000438623:P50Q	P	+	2	0	UNG	108032103	0.609000	0.26975	1.000000	0.80357	0.961000	0.63080	-0.176000	0.09811	0.831000	0.34780	-0.219000	0.12488	CCA		0.478	UNG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403067.1	0	NM_080911		12:109547720
CPT1B	1375	broad.mit.edu	37	22	51012928	51012928	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:51012928G>T	ENST00000360719.2	-	8	1016	c.879C>A	c.(877-879)atC>atA	p.I293I	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000395650.2_Silent_p.I293I|CPT1B_ENST00000434492.2_Silent_p.I90I|CPT1B_ENST00000440709.1_Silent_p.I293I|CPT1B_ENST00000312108.7_Silent_p.I293I|CPT1B_ENST00000405237.3_Silent_p.I293I|CPT1B_ENST00000457250.1_Silent_p.I259I	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	293					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCACAGGCTTGATTTCTTCAC	0.557																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(877-879)atC>atA		carnitine palmitoyltransferase 1B (muscle)							197.0	159.0	172.0					22																	51012928		2203	4300	6503	SO:0001819	synonymous_variant	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51012928G>T	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.879C>A	22.37:g.51012928G>T		False	False		Somatic	0				CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Silent_p.I90I|CPT1B_ENST00000395650.2_Silent_p.I293I|CPT1B_ENST00000405237.3_Silent_p.I293I|CPT1B_ENST00000457250.1_Silent_p.I259I|CPT1B_ENST00000440709.1_Silent_p.I293I|CPT1B_ENST00000312108.7_Silent_p.I293I	p.I293I	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	WXS	Illumina HiSeq	Phase_I	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	8	1016	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	293					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	37	c.879C>A	CCDS14098.1																																																																																				0.557	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	0	NM_152246		22:51012928
ACTR10	55860	broad.mit.edu	37	14	58698943	58698943	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:58698943C>A	ENST00000254286.4	+	12	1110	c.1030C>A	c.(1030-1032)Cat>Aat	p.H344N		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	344					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						ATTTCGAATTCATACTCCACC	0.348																																						ENST00000254286.4		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1030-1032)Cat>Aat		actin-related protein 10 homolog (S. cerevisiae)							86.0	95.0	92.0					14																	58698943		2203	4300	6503	SO:0001583	missense	55860					cytoplasm		g.chr14:58698943C>A	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.1030C>A	14.37:g.58698943C>A	ENSP00000254286:p.His344Asn	False	False		Somatic	0				ACTR10_ENST00000554402.1_3'UTR	p.H344N	NM_018477.2	NP_060947.1	WXS	Illumina HiSeq	Phase_I	Q9NZ32	ARP10_HUMAN			12	1110	+			344					Q9H9Y5|Q9NWY2	Missense_Mutation	SNP	ENST00000254286.4	37	c.1030C>A	CCDS32090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.861387|4.861387	0.91433|0.91433	.|.	.|.	ENSG00000131966|ENSG00000131966	ENST00000254286|ENST00000554642	D|.	0.94650|.	-3.48|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.82559|.	0.5063|.	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.68039|.	0.955;0.955|.	T|.	0.82452|.	-0.0450|.	9|.	.|.	.|.	.|.	0.0837|0.0837	19.3504|19.3504	0.94381|0.94381	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	344;344|.	Q53H79;Q9NZ32|.	.;ARP10_HUMAN|.	N|X	344|75	ENSP00000254286:H344N|.	.|.	H|S	+|+	1|2	0|0	ACTR10|ACTR10	57768696|57768696	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.687000|7.687000	0.84139|0.84139	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	CAT|TCA		0.348	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1	0			14:58698943
RAB14	51552	broad.mit.edu	37	9	123949238	123949238	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:123949238G>T	ENST00000373840.4	-	5	581	c.344C>A	c.(343-345)cCa>cAa	p.P115Q		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	115					embryo development (GO:0009790)|endocytic recycling (GO:0032456)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi to endosome transport (GO:0006895)|GTP catabolic process (GO:0006184)|intracellular transport (GO:0046907)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of protein localization (GO:0032880)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|rough endoplasmic reticulum (GO:0005791)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TACAGTATTTGGATTGGTGAG	0.338																																						ENST00000373840.4		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(343-345)cCa>cAa		RAB14, member RAS oncogene family							106.0	101.0	103.0					9																	123949238		2203	4298	6501	SO:0001583	missense	51552				embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity	g.chr9:123949238G>T	AF152463	CCDS6827.1	9q32-q34.11	2008-07-21			ENSG00000119396	ENSG00000119396		"""RAB, member RAS oncogene"""	16524	protein-coding gene	gene with protein product	"""F protein-binding protein 1"", ""bA165P4.3 (member RAS oncogene family)"", ""small GTP binding protein RAB14"""	612673				9792283, 15004230	Standard	NM_016322		Approved	FBP, RAB-14	uc004blc.3	P61106	OTTHUMG00000020582	ENST00000373840.4:c.344C>A	9.37:g.123949238G>T	ENSP00000362946:p.Pro115Gln	True	False		Somatic	0					p.P115Q	NM_016322.3	NP_057406.2	WXS	Illumina HiSeq	Phase_I	P61106	RAB14_HUMAN			5	581	-			115					B3KR31|P35287|Q5JVD4|Q6Q7K5|Q969L0|Q9UI11	Missense_Mutation	SNP	ENST00000373840.4	37	c.344C>A	CCDS6827.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688945	0.88735	.	.	ENSG00000119396	ENST00000373840;ENST00000451303	T;T	0.75704	-0.96;-0.96	6.06	6.06	0.98353	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.79604	0.4474	L	0.28014	0.82	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74774	-0.3551	10	0.24483	T	0.36	.	19.6279	0.95687	0.0:0.0:1.0:0.0	.	115	P61106	RAB14_HUMAN	Q	115	ENSP00000362946:P115Q;ENSP00000400107:P115Q	ENSP00000362946:P115Q	P	-	2	0	RAB14	122989059	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.737000	0.98831	2.880000	0.98712	0.650000	0.86243	CCA		0.338	RAB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053857.1	0	NM_016322		9:123949238
IDE	3416	broad.mit.edu	37	10	94223733	94223733	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:94223733C>A	ENST00000265986.6	-	21	2572	c.2516G>T	c.(2515-2517)cGa>cTa	p.R839L	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.R284L	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	839					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	GCCATTAGCTCGACGTGGCCC	0.453																																						ENST00000265986.6		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(2515-2517)cGa>cTa		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						201.0	198.0	199.0					10																	94223733		2203	4300	6503	SO:0001583	missense	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94223733C>A	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2516G>T	10.37:g.94223733C>A	ENSP00000265986:p.Arg839Leu	False	False		Somatic	0				IDE_ENST00000371581.5_Missense_Mutation_p.R284L|IDE_ENST00000496903.1_5'UTR	p.R839L	NM_004969.3	NP_004960.2	WXS	Illumina HiSeq	Phase_I	P14735	IDE_HUMAN			21	2572	-			839					B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	37	c.2516G>T	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.962777	0.92791	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.07327	3.2;3.2	5.61	5.61	0.85477	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.64402	D	0.000001	T	0.19327	0.0464	L	0.54863	1.705	0.80722	D	1	D;D	0.59767	0.978;0.986	P;P	0.58172	0.792;0.834	T	0.03863	-1.0997	10	0.07990	T	0.79	-8.6533	20.0016	0.97412	0.0:1.0:0.0:0.0	.	839;284	P14735;B3KSB8	IDE_HUMAN;.	L	839;284	ENSP00000265986:R839L;ENSP00000360637:R284L	ENSP00000265986:R839L	R	-	2	0	IDE	94213713	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	7.545000	0.82128	2.802000	0.96397	0.655000	0.94253	CGA		0.453	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	0	NM_004969		10:94223733
SFXN4	119559	broad.mit.edu	37	10	120923683	120923683	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:120923683C>A	ENST00000355697.2	-	2	156	c.137G>T	c.(136-138)tGg>tTg	p.W46L	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.W46L	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	46					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TAATTCTGTCCATTGAAGAAA	0.323																																						ENST00000355697.2		NA																	0				central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11						c.(136-138)tGg>tTg		sideroflexin 4							83.0	91.0	88.0					10																	120923683		2203	4300	6503	SO:0001583	missense	119559				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:120923683C>A		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"""Sideroflexins"""	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.137G>T	10.37:g.120923683C>A	ENSP00000347924:p.Trp46Leu	False	False		Somatic	0				SFXN4_ENST00000330036.6_Missense_Mutation_p.W46L|SFXN4_ENST00000461438.1_5'UTR	p.W46L	NM_213649.1	NP_998814.1	WXS	Illumina HiSeq	Phase_I	Q6P4A7	SFXN4_HUMAN		all cancers(201;0.0261)	2	156	-		Lung NSC(174;0.094)|all_lung(145;0.123)	46					Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	c.137G>T	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056769	0.36277	.	.	ENSG00000183605	ENST00000355697;ENST00000330036	T;T	0.27402	1.67;1.67	4.29	4.29	0.51040	.	0.151299	0.47852	D	0.000202	T	0.30696	0.0773	M	0.65498	2.005	0.46149	D	0.99889	P	0.35793	0.521	B	0.31245	0.126	T	0.26189	-1.0110	10	0.62326	D	0.03	-4.1067	12.1773	0.54192	0.0:1.0:0.0:0.0	.	46	Q6P4A7	SFXN4_HUMAN	L	46	ENSP00000347924:W46L;ENSP00000333200:W46L	ENSP00000333200:W46L	W	-	2	0	SFXN4	120913673	1.000000	0.71417	0.989000	0.46669	0.573000	0.36030	3.338000	0.52128	2.239000	0.73571	0.449000	0.29647	TGG		0.323	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	0	XM_058406		10:120923683
HIRIP3	8479	broad.mit.edu	37	16	30000991	30000991	+	IGR	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:30000991A>G	ENST00000279392.3	-	0	3385				TAOK2_ENST00000279394.3_Silent_p.A770A	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CTCTGCGAGCACACTTGCTGG	0.562																																						ENST00000279394.3		NA																	0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(2308-2310)gcA>gcG		TAO kinase 2							77.0	67.0	71.0					16																	30000991		2197	4300	6497	SO:0001628	intergenic_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:30000991A>G	AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118		16.37:g.30000991A>G		False	False		Somatic	0					p.A770A	NM_004783.3	NP_004774.1	WXS	Illumina HiSeq	Phase_I	Q9UL54	TAOK2_HUMAN			17	2713	+			648					H3BSR3|O75707|O75708	Silent	SNP	ENST00000279392.3	37	c.2310A>G	CCDS10664.1																																																																																				0.562	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255160.2	0	NM_003609		16:30000991
CNRIP1	25927	broad.mit.edu	37	2	68544303	68544303	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:68544303G>A	ENST00000263655.3	-	2	921	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Nonsense_Mutation_p.Q106*|CNRIP1_ENST00000409862.1_Nonsense_Mutation_p.Q106*	NM_015463.2	NP_056278.1	Q96F85	CNRP1_HUMAN	cannabinoid receptor interacting protein 1	106										kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						ATGGTGATCTGGATGGGTTGC	0.468																																						ENST00000263655.3		NA																	0				kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1)	9						c.(316-318)Cag>Tag		cannabinoid receptor interacting protein 1							186.0	161.0	170.0					2																	68544303		2203	4300	6503	SO:0001587	stop_gained	25927						protein binding	g.chr2:68544303G>A	AL110235	CCDS1886.1, CCDS46311.1	2p13	2008-02-05	2007-11-29	2007-11-29	ENSG00000119865	ENSG00000119865			24546	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 32"""	C2orf32		12477932	Standard	NM_015463		Approved	DKFZP566K1924, CRIP1, CRIP1a, CRIP1b	uc002sek.4	Q96F85	OTTHUMG00000129565	ENST00000263655.3:c.316C>T	2.37:g.68544303G>A	ENSP00000263655:p.Gln106*	False	False		Somatic	0				CNRIP1_ENST00000409862.1_Nonsense_Mutation_p.Q106*|CNRIP1_ENST00000481714.1_5'UTR|CNRIP1_ENST00000409559.3_Nonsense_Mutation_p.Q106*	p.Q106*	NM_015463.2	NP_056278.1	WXS	Illumina HiSeq	Phase_I	Q96F85	CNRP1_HUMAN			2	921	-			106					B2R4D0|Q49AN4|Q9UFZ0	Nonsense_Mutation	SNP	ENST00000263655.3	37	c.316C>T	CCDS1886.1	.	.	.	.	.	.	.	.	.	.	G	37	6.464642	0.97590	.	.	ENSG00000119865	ENST00000409559;ENST00000263655;ENST00000409862	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-13.3606	17.0178	0.86424	0.0:0.0:1.0:0.0	.	.	.	.	X	106	.	ENSP00000263655:Q106X	Q	-	1	0	CNRIP1	68397807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.967000	0.93402	2.697000	0.92050	0.555000	0.69702	CAG		0.468	CNRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251758.1	0	NM_015463		2:68544303
GPR35	2859	broad.mit.edu	37	2	241569512	241569512	+	Missense_Mutation	SNP	G	G	A	rs368251622		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:241569512G>A	ENST00000319838.5	+	6	1085	c.143G>A	c.(142-144)cGc>cAc	p.R48H	GPR35_ENST00000438013.2_Missense_Mutation_p.R79H|GPR35_ENST00000403859.1_Missense_Mutation_p.R48H|GPR35_ENST00000407714.1_Missense_Mutation_p.R48H|GPR35_ENST00000430267.1_Missense_Mutation_p.R48H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	48					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		TTCTGCTGCCGCATGCAGCAG	0.647																																						ENST00000319838.5		NA																	0				NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17						c.(142-144)cGc>cAc		G protein-coupled receptor 35		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	84.0	75.0	78.0		236,236,143	2.9	0.8	2		78	0,8600		0,0,4300	no	missense,missense,missense	GPR35	NM_001195381.1,NM_001195382.1,NM_005301.3	29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	79/341,79/341,48/310	241569512	1,13005	2203	4300	6503	SO:0001583	missense	2859					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:241569512G>A		CCDS2541.1, CCDS56174.1	2q37.3	2012-08-21			ENSG00000178623	ENSG00000178623		"""GPCR / Class A : Orphans"""	4492	protein-coding gene	gene with protein product		602646				9479505	Standard	NM_005301		Approved		uc021vze.1	Q9HC97	OTTHUMG00000133356	ENST00000319838.5:c.143G>A	2.37:g.241569512G>A	ENSP00000322731:p.Arg48His	False	False		Somatic	0				GPR35_ENST00000438013.2_Missense_Mutation_p.R79H|GPR35_ENST00000407714.1_Missense_Mutation_p.R48H|GPR35_ENST00000403859.1_Missense_Mutation_p.R48H|GPR35_ENST00000430267.1_Missense_Mutation_p.R48H	p.R48H	NM_001195381.1	NP_001182310.1	WXS	Illumina HiSeq	Phase_I	Q9HC97	GPR35_HUMAN		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)	6	1085	+		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)	48					J3KR30|O43495|Q17R58|Q4VBN5|Q4ZFV2|Q6FHI8|Q86UH4	Missense_Mutation	SNP	ENST00000319838.5	37	c.143G>A	CCDS2541.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219555	0.58560	2.27E-4	0.0	ENSG00000178623	ENST00000319838;ENST00000403859;ENST00000438013;ENST00000407714;ENST00000430267	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	3.81	2.92	0.33932	GPCR, rhodopsin-like superfamily (1);	0.567532	0.16439	U	0.214392	T	0.73225	0.3560	L	0.39514	1.22	0.34064	D	0.657654	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.987;0.989;0.989	T	0.74497	-0.3646	10	0.36615	T	0.2	-28.6438	6.1563	0.20340	0.2348:0.0:0.7652:0.0	.	133;79;48	Q6ZMP9;A8K2J1;Q9HC97	.;.;GPR35_HUMAN	H	48;48;79;48;48	ENSP00000322731:R48H;ENSP00000385140:R48H;ENSP00000415890:R79H;ENSP00000384263:R48H;ENSP00000411788:R48H	ENSP00000322731:R48H	R	+	2	0	GPR35	241218185	0.000000	0.05858	0.789000	0.31954	0.616000	0.37450	-0.018000	0.12568	0.937000	0.37394	0.462000	0.41574	CGC		0.647	GPR35-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000325631.1	0	NM_001195382		2:241569512
ZCCHC6	79670	broad.mit.edu	37	9	88953781	88953781	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:88953781G>T	ENST00000375963.3	-	9	1464	c.1292C>A	c.(1291-1293)cCa>cAa	p.P431Q	ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000375948.1_Missense_Mutation_p.P69Q|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.P431Q|ZCCHC6_ENST00000277141.6_5'UTR	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	431					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AACCAGCTTTGGTTCTAGTTT	0.428																																						ENST00000375961.2		NA																	0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1291-1293)cCa>cAa		zinc finger, CCHC domain containing 6							112.0	100.0	104.0					9																	88953781		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88953781G>T	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.1292C>A	9.37:g.88953781G>T	ENSP00000365130:p.Pro431Gln	True	False		Somatic	0				ZCCHC6_ENST00000375960.2_Intron|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375948.1_Missense_Mutation_p.P69Q|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.P431Q	p.P431Q			WXS	Illumina HiSeq	Phase_I	Q5VYS8	TUT7_HUMAN			9	1506	-			431					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.1292C>A	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.802284	0.90538	.	.	ENSG00000083223	ENST00000375961;ENST00000375963;ENST00000375948	T;T;T	0.73681	-0.77;-0.77;-0.77	4.56	4.56	0.56223	.	0.117764	0.64402	D	0.000017	D	0.84451	0.5475	M	0.77712	2.385	0.51482	D	0.999928	P;P	0.51653	0.947;0.891	P;P	0.58331	0.837;0.617	D	0.86390	0.1735	10	0.59425	D	0.04	-16.5782	17.8715	0.88812	0.0:0.0:1.0:0.0	.	431;431	Q5VYS8-2;Q5VYS8	.;TUT7_HUMAN	Q	431;431;69	ENSP00000365128:P431Q;ENSP00000365130:P431Q;ENSP00000365115:P69Q	ENSP00000365115:P69Q	P	-	2	0	ZCCHC6	88143601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.788000	0.69020	2.520000	0.84964	0.655000	0.94253	CCA		0.428	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	0	NM_024617		9:88953781
CCDC158	339965	broad.mit.edu	37	4	77276555	77276555	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:77276555G>T	ENST00000388914.3	-	14	2360	c.2208C>A	c.(2206-2208)atC>atA	p.I736I	RNU6-1000P_ENST00000391066.1_RNA	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	736										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTTTGGCTGTGATTTGCTTTT	0.408																																						ENST00000388914.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						c.(2206-2208)atC>atA		coiled-coil domain containing 158							238.0	218.0	224.0					4																	77276555		1902	4126	6028	SO:0001819	synonymous_variant	339965							g.chr4:77276555G>T	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2208C>A	4.37:g.77276555G>T		False	False		Somatic	0					p.I736I	NM_001042784.1	NP_001036249.1	WXS	Illumina HiSeq	Phase_I	Q5M9N0	CD158_HUMAN			14	2360	-			736					Q8IYQ1|Q8N7D4|Q8N7E3	Silent	SNP	ENST00000388914.3	37	c.2208C>A	CCDS43242.1																																																																																				0.408	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	0	NM_001042784		4:77276555
ZNF497	162968	broad.mit.edu	37	19	58867557	58867557	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:58867557C>T	ENST00000311044.3	-	3	1633	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H	A1BG-AS1_ENST00000593960.1_RNA|A1BG_ENST00000263100.3_5'Flank|A1BG-AS1_ENST00000594950.1_RNA|ZNF497_ENST00000425453.3_Missense_Mutation_p.R482H|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|CTD-2619J13.9_ENST00000599952.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GAGGTTGCAACGGTGGCTGAA	0.697																																						ENST00000311044.3		NA																	0				central_nervous_system(2)|lung(3)|skin(2)	7						c.(1444-1446)cGt>cAt		zinc finger protein 497							17.0	18.0	18.0					19																	58867557		2185	4263	6448	SO:0001583	missense	162968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58867557C>T	AK126727	CCDS12977.1	19q13.43	2013-01-08			ENSG00000174586	ENSG00000174586		"""Zinc fingers, C2H2-type"""	23714	protein-coding gene	gene with protein product							Standard	NM_198458		Approved	FLJ44773	uc002qsi.2	Q6ZNH5		ENST00000311044.3:c.1445G>A	19.37:g.58867557C>T	ENSP00000311183:p.Arg482His	False	False		Somatic	0				ZNF497_ENST00000425453.3_Missense_Mutation_p.R482H|CTD-2619J13.8_ENST00000599109.1_RNA	p.R482H	NM_198458.2	NP_940860.2	WXS	Illumina HiSeq	Phase_I	Q6ZNH5	ZN497_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)	3	1633	-		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	482					Q05AG8|Q0VF48|Q6ZTD2|Q9UIA8	Missense_Mutation	SNP	ENST00000311044.3	37	c.1445G>A	CCDS12977.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.405179	0.42613	.	.	ENSG00000174586	ENST00000311044;ENST00000425453	T;T	0.36157	1.27;1.27	1.01	-0.157	0.13387	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31136	0.0787	L	0.38531	1.155	0.09310	N	1	D	0.65815	0.995	P	0.52031	0.688	T	0.13361	-1.0512	9	0.36615	T	0.2	.	2.4784	0.04581	0.0:0.4377:0.3307:0.2316	.	482	Q6ZNH5	ZN497_HUMAN	H	482	ENSP00000311183:R482H;ENSP00000402815:R482H	ENSP00000311183:R482H	R	-	2	0	ZNF497	63559369	0.000000	0.05858	0.268000	0.24571	0.241000	0.25554	-1.396000	0.02513	-0.011000	0.14247	0.195000	0.17529	CGT		0.697	ZNF497-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466942.2	0	NM_198458		19:58867557
HAP1	9001	broad.mit.edu	37	17	39880981	39880981	+	Missense_Mutation	SNP	C	C	A	rs147264849	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:39880981C>A	ENST00000310778.5	-	12	1997	c.1988G>T	c.(1987-1989)cGg>cTg	p.R663L	HAP1_ENST00000341193.5_Missense_Mutation_p.R594L|HAP1_ENST00000393939.2_Missense_Mutation_p.R586L|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Missense_Mutation_p.R611L			P54257	HAP1_HUMAN	huntingtin-associated protein 1	663					anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			GCAGCTTGTCCGGCTGGCGGC	0.617																																						ENST00000393939.2		NA																	0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21						c.(1756-1758)cGg>cTg		huntingtin-associated protein 1							78.0	90.0	86.0					17																	39880981		2203	4300	6503	SO:0001583	missense	9001				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding	g.chr17:39880981C>A	AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.1988G>T	17.37:g.39880981C>A	ENSP00000309392:p.Arg663Leu	False	False		Somatic	0				HAP1_ENST00000310778.5_Missense_Mutation_p.R663L|HAP1_ENST00000341193.5_Missense_Mutation_p.R594L|HAP1_ENST00000347901.4_Missense_Mutation_p.R611L|JUP_ENST00000540235.1_Intron	p.R586L			WXS	Illumina HiSeq	Phase_I	P54257	HAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		10	1766	-		Breast(137;0.000162)	663			Glu-rich.		A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	ENST00000310778.5	37	c.1757G>T		.	.	.	.	.	.	.	.	.	.	C	4.467	0.086539	0.08583	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.05925	3.37;3.63;3.5;3.38	3.87	-3.79	0.04320	.	3.455040	0.00822	N	0.001599	T	0.03011	0.0089	N	0.03608	-0.345	0.19945	N	0.999941	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.40627	-0.9553	10	0.44086	T	0.13	-0.0494	4.4024	0.11393	0.1562:0.3476:0.0:0.4962	.	586;594;611;663	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	L	586;663;611;594	ENSP00000377513:R586L;ENSP00000309392:R663L;ENSP00000334002:R611L;ENSP00000343170:R594L	ENSP00000309392:R663L	R	-	2	0	HAP1	37134507	0.007000	0.16637	0.087000	0.20705	0.043000	0.13939	-2.788000	0.00768	-0.824000	0.04295	-1.337000	0.01257	CGG		0.617	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	0	NM_003949		17:39880981
CSDE1	7812	broad.mit.edu	37	1	115282502	115282502	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:115282502C>A	ENST00000358528.4	-	3	436	c.10G>T	c.(10-12)Gat>Tat	p.D4Y	CSDE1_ENST00000369530.1_Missense_Mutation_p.D50Y|CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000339438.6_Missense_Mutation_p.D4Y|CSDE1_ENST00000438362.2_Missense_Mutation_p.D50Y|CSDE1_ENST00000534699.1_Missense_Mutation_p.D4Y|CSDE1_ENST00000261443.5_Missense_Mutation_p.D4Y	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	4					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGTTTGGATCAAAGCTCATC	0.343																																						ENST00000438362.2		NA																	0				NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51						c.(148-150)Gat>Tat		cold shock domain containing E1, RNA-binding							225.0	233.0	230.0					1																	115282502		2203	4300	6503	SO:0001583	missense	7812				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	g.chr1:115282502C>A		CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.10G>T	1.37:g.115282502C>A	ENSP00000351329:p.Asp4Tyr	True	False		Somatic	0				CSDE1_ENST00000261443.5_Missense_Mutation_p.D4Y|CSDE1_ENST00000358528.4_Missense_Mutation_p.D4Y|CSDE1_ENST00000339438.6_Missense_Mutation_p.D4Y|CSDE1_ENST00000369530.1_Missense_Mutation_p.D50Y|CSDE1_ENST00000534699.1_Missense_Mutation_p.D4Y|CSDE1_ENST00000530886.1_Intron	p.D50Y	NM_001242891.1	NP_001229820.1	WXS	Illumina HiSeq	Phase_I	O75534	CSDE1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	526	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	4			CSD 1.		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	c.148G>T	CCDS30812.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695537	0.68386	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000369530;ENST00000534699;ENST00000534389;ENST00000525878;ENST00000525970	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.69459	0.3113	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.993;0.997	T	0.71167	-0.4672	9	0.87932	D	0	-4.3184	20.4324	0.99085	0.0:1.0:0.0:0.0	.	50;4;50	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	Y	4;50;4;4;50;4;4;4;4	.	ENSP00000261443:D4Y	D	-	1	0	CSDE1	115084025	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.833000	0.97629	0.585000	0.79938	GAT		0.343	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	0	NM_007158		1:115282502
FBXO36	130888	broad.mit.edu	37	2	230861544	230861544	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:230861544G>T	ENST00000283946.3	+	3	301	c.283G>T	c.(283-285)Gaa>Taa	p.E95*	FBXO36_ENST00000373652.3_Nonsense_Mutation_p.E64*|FBXO36_ENST00000409992.1_Nonsense_Mutation_p.E75*	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36	95	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.									endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGACTTCCTTGAACGGCTCTC	0.373																																						ENST00000373652.3		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7						c.(190-192)Gaa>Taa		F-box protein 36							188.0	182.0	184.0					2																	230861544		2203	4300	6503	SO:0001587	stop_gained	130888							g.chr2:230861544G>T	BC033935	CCDS2472.1	2q37.1	2008-02-05	2004-06-15		ENSG00000153832	ENSG00000153832		"""F-boxes /  ""other"""""	27020	protein-coding gene	gene with protein product		609105	"""F-box only protein 36"""			12477932	Standard	NM_174899		Approved	Fbx36, FLJ37592	uc002vqa.3	Q8NEA4	OTTHUMG00000133206	ENST00000283946.3:c.283G>T	2.37:g.230861544G>T	ENSP00000283946:p.Glu95*	False	False		Somatic	0				FBXO36_ENST00000409992.1_Nonsense_Mutation_p.E75*|FBXO36_ENST00000283946.3_Nonsense_Mutation_p.E95*	p.E64*			WXS	Illumina HiSeq	Phase_I	Q8NEA4	FBX36_HUMAN		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)	4	611	+		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	95					B3KVQ6|Q53TE6|Q8WWD4	Nonsense_Mutation	SNP	ENST00000283946.3	37	c.190G>T	CCDS2472.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739936	0.89573	.	.	ENSG00000153832	ENST00000373652;ENST00000283946;ENST00000409992	.	.	.	5.37	5.37	0.77165	.	0.068618	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-12.5523	17.8809	0.88840	0.0:0.0:1.0:0.0	.	.	.	.	X	64;95;75	.	ENSP00000283946:E95X	E	+	1	0	FBXO36	230569788	1.000000	0.71417	0.999000	0.59377	0.930000	0.56654	4.277000	0.58939	2.518000	0.84900	0.561000	0.74099	GAA		0.373	FBXO36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256919.2	0	NM_174899		2:230861544
FAM208B	54906	broad.mit.edu	37	10	5789164	5789164	+	Silent	SNP	C	C	A	rs199707358		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:5789164C>A	ENST00000328090.5	+	15	4405	c.3780C>A	c.(3778-3780)atC>atA	p.I1260I		NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1260																	CAGTATTTATCAAACAAACAA	0.393																																						ENST00000328090.5		NA																	0					NA						c.(3778-3780)atC>atA		family with sequence similarity 208, member B							69.0	72.0	71.0					10																	5789164		1881	4115	5996	SO:0001819	synonymous_variant	54906							g.chr10:5789164C>A	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3780C>A	10.37:g.5789164C>A		True	False		Somatic	0					p.I1260I	NM_017782.4	NP_060252.4	WXS	Illumina HiSeq	Phase_I	Q5VWN6	CJ018_HUMAN			15	4405	+			1260					Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Silent	SNP	ENST00000328090.5	37	c.3780C>A	CCDS41485.1																																																																																				0.393	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	0	NM_017782		10:5789164
AGTPBP1	23287	broad.mit.edu	37	9	88287535	88287535	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:88287535G>T	ENST00000357081.3	-	7	642	c.498C>A	c.(496-498)gtC>gtA	p.V166V	AGTPBP1_ENST00000376109.3_Silent_p.V218V|AGTPBP1_ENST00000337006.4_Silent_p.V108V|AGTPBP1_ENST00000376080.1_Silent_p.V108V|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376083.3_Silent_p.V166V|AGTPBP1_ENST00000376081.4_Silent_p.V166V|AGTPBP1_ENST00000491784.1_5'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	166					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AATTCTGCTTGACCAAATTCA	0.348																																						ENST00000357081.3		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						c.(496-498)gtC>gtA		ATP/GTP binding protein 1							98.0	99.0	99.0					9																	88287535		2203	4300	6503	SO:0001819	synonymous_variant	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88287535G>T	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.498C>A	9.37:g.88287535G>T		False	False		Somatic	0				AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Silent_p.V218V|AGTPBP1_ENST00000376081.4_Silent_p.V166V|AGTPBP1_ENST00000376083.3_Silent_p.V166V|AGTPBP1_ENST00000491784.1_5'UTR|AGTPBP1_ENST00000337006.4_Silent_p.V108V|AGTPBP1_ENST00000376080.1_Silent_p.V108V	p.V166V			WXS	Illumina HiSeq	Phase_I	Q9UPW5	CBPC1_HUMAN			7	642	-			166					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37	c.498C>A																																																																																					0.348	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	0	NM_015239		9:88287535
PTPRK	5796	broad.mit.edu	37	6	128404925	128404925	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:128404925C>A	ENST00000368215.3	-	9	1509	c.1510G>T	c.(1510-1512)Gaa>Taa	p.E504*	PTPRK_ENST00000368226.4_Nonsense_Mutation_p.E504*|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000532331.1_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368227.3_Nonsense_Mutation_p.E504*			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	504	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATCTTATTTTCAAAGGATGTT	0.348																																						ENST00000368227.3		NA																PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(1510-1512)Gaa>Taa		protein tyrosine phosphatase, receptor type, K							104.0	103.0	103.0					6																	128404925		2203	4299	6502	SO:0001587	stop_gained	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128404925C>A	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1510G>T	6.37:g.128404925C>A	ENSP00000357198:p.Glu504*	True	False		Somatic	0				PTPRK_ENST00000532331.1_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368213.5_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368226.4_Nonsense_Mutation_p.E504*|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368210.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368207.3_Nonsense_Mutation_p.E504*|PTPRK_ENST00000368215.3_Nonsense_Mutation_p.E504*	p.E504*			WXS	Illumina HiSeq	Phase_I	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	9	1876	-			504			Fibronectin type-III 3.		B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Nonsense_Mutation	SNP	ENST00000368215.3	37	c.1510G>T		.	.	.	.	.	.	.	.	.	.	C	39	7.548767	0.98352	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000427676	.	.	.	6.02	5.15	0.70609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	16.7022	0.85357	0.1306:0.8694:0.0:0.0	.	.	.	.	X	504;504;504;504;504;504;504;361	.	ENSP00000357190:E504X	E	-	1	0	PTPRK	128446618	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.625000	0.83145	1.527000	0.49086	-0.188000	0.12872	GAA		0.348	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1	0			6:128404925
SI	6476	broad.mit.edu	37	3	164757744	164757744	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:164757744C>A	ENST00000264382.3	-	19	2237	c.2175G>T	c.(2173-2175)acG>acT	p.T725T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	725	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCCAGCTGTTCGTATCCTCAT	0.333										HNSCC(35;0.089)																												ENST00000264382.3		NA																	0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(2173-2175)acG>acT		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						119.0	122.0	121.0					3																	164757744		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164757744C>A	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2175G>T	3.37:g.164757744C>A		False	False	HNSCC(35;0.089)	Somatic	0					p.T725T	NM_001041.3	NP_001032.2	WXS	Illumina HiSeq	Phase_I	P14410	SUIS_HUMAN			19	2237	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	725			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.2175G>T	CCDS3196.1																																																																																				0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	0	NM_001041		3:164757744
KIF20B	9585	broad.mit.edu	37	10	91483759	91483759	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:91483759G>T	ENST00000371728.3	+	14	1826	c.1761G>T	c.(1759-1761)ctG>ctT	p.L587L	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Silent_p.L587L|KIF20B_ENST00000416354.1_Silent_p.L587L|KIF20B_ENST00000394289.2_Silent_p.L587L	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	587					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AAAAAAAACTGATAAATGAAA	0.289																																						ENST00000416354.1		NA																	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						c.(1759-1761)ctG>ctT		kinesin family member 20B							40.0	48.0	45.0					10																	91483759		2179	4288	6467	SO:0001819	synonymous_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91483759G>T	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.1761G>T	10.37:g.91483759G>T		False	False		Somatic	0				KIF20B_ENST00000371728.3_Silent_p.L587L|KIF20B_ENST00000260753.4_Silent_p.L587L|KIF20B_ENST00000394289.2_Silent_p.L587L|KIF20B_ENST00000478929.1_3'UTR	p.L587L			WXS	Illumina HiSeq	Phase_I	Q96Q89	KI20B_HUMAN			14	1833	+			587					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37	c.1761G>T																																																																																					0.289	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	0	NM_016195		10:91483759
MTR	4548	broad.mit.edu	37	1	237024431	237024431	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:237024431G>T	ENST00000366577.5	+	20	2444	c.2050G>T	c.(2050-2052)Gaa>Taa	p.E684*	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	684	B12-binding N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ttAGGGCATTGAAAAACATAT	0.323																																						ENST00000366577.5		NA																	0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(2050-2052)Gaa>Taa		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						35.0	35.0	35.0					1																	237024431		2199	4298	6497	SO:0001587	stop_gained	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024431G>T	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2050G>T	1.37:g.237024431G>T	ENSP00000355536:p.Glu684*	True	False		Somatic	0				MTR_ENST00000535889.1_Intron	p.E684*	NM_000254.2	NP_000245.2	WXS	Illumina HiSeq	Phase_I	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2444	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	684			B12-binding N-terminal.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Nonsense_Mutation	SNP	ENST00000366577.5	37	c.2050G>T	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	37	6.200572	0.97371	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000366576	.	.	.	5.43	5.43	0.79202	.	0.102591	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-26.8753	19.4279	0.94751	0.0:0.0:1.0:0.0	.	.	.	.	X	538;684;238	.	ENSP00000355535:E238X	E	+	1	0	MTR	235091054	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.827000	0.99397	2.824000	0.97209	0.655000	0.94253	GAA		0.323	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	0	NM_000254		1:237024431
HERC2	8924	broad.mit.edu	37	15	28370319	28370319	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:28370319C>A	ENST00000261609.7	-	84	12931	c.12823G>T	c.(12823-12825)Gac>Tac	p.D4275Y		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCATCATTGTCGCCCCATGTA	0.522																																						ENST00000261609.7		NA																	0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12823-12825)Gac>Tac		HECT and RLD domain containing E3 ubiquitin protein ligase 2							211.0	191.0	198.0					15																	28370319		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28370319C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12823G>T	15.37:g.28370319C>A	ENSP00000261609:p.Asp4275Tyr	False	False		Somatic	0					p.D4275Y	NM_004667.5	NP_004658.3	WXS	Illumina HiSeq	Phase_I	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	84	12931	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4275						Missense_Mutation	SNP	ENST00000261609.7	37	c.12823G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814952	0.90790	.	.	ENSG00000128731	ENST00000261609	D	0.84730	-1.89	5.19	5.19	0.71726	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.88415	0.6430	L	0.28192	0.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90196	0.4253	10	0.87932	D	0	.	18.7201	0.91689	0.0:1.0:0.0:0.0	.	4275	O95714	HERC2_HUMAN	Y	4275	ENSP00000261609:D4275Y	ENSP00000261609:D4275Y	D	-	1	0	HERC2	26043914	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	7.808000	0.86044	2.408000	0.81797	0.655000	0.94253	GAC		0.522	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	0	NM_004667		15:28370319
CEP57L1	285753	broad.mit.edu	37	6	109480272	109480272	+	Silent	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:109480272A>G	ENST00000517392.1	+	8	1215	c.789A>G	c.(787-789)tcA>tcG	p.S263S	CEP57L1_ENST00000368968.2_Silent_p.S263S|CEP57L1_ENST00000523787.1_Silent_p.S266S|CEP57L1_ENST00000368970.2_Silent_p.S263S|CEP57L1_ENST00000359793.3_Silent_p.S263S|CEP57L1_ENST00000521522.1_Silent_p.S234S|CEP57L1_ENST00000520883.1_Silent_p.S187S|CEP57L1_ENST00000407272.1_Silent_p.S263S|CEP57L1_ENST00000336977.4_Silent_p.S187S	NM_001271852.1|NM_001271853.1	NP_001258781.1|NP_001258782.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	263					microtubule anchoring (GO:0034453)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						AAATTTGTTCAAAGTTTGGAG	0.328																																						ENST00000407272.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						c.(787-789)tcA>tcG		centrosomal protein 57kDa-like 1							70.0	73.0	72.0					6																	109480272		2203	4300	6503	SO:0001819	synonymous_variant	285753					microtubule|microtubule organizing center		g.chr6:109480272A>G	AK092723	CCDS5071.1, CCDS64491.1	6q21	2014-01-28	2010-09-30	2010-09-30	ENSG00000183137	ENSG00000183137			21561	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 182"""	C6orf182			Standard	NM_001083535		Approved	bA487F23.2, MGC21731	uc003psy.4	Q8IYX8	OTTHUMG00000015336	ENST00000517392.1:c.789A>G	6.37:g.109480272A>G		True	False		Somatic	0				CEP57L1_ENST00000368968.2_Silent_p.S263S|CEP57L1_ENST00000359793.3_Silent_p.S263S|CEP57L1_ENST00000517392.1_Silent_p.S263S|CEP57L1_ENST00000368970.2_Silent_p.S263S|CEP57L1_ENST00000521522.1_Silent_p.S234S|CEP57L1_ENST00000520883.1_Silent_p.S187S|CEP57L1_ENST00000336977.4_Silent_p.S187S|CEP57L1_ENST00000523787.1_Silent_p.S266S	p.S263S	NM_001083535.1	NP_001077004.1	WXS	Illumina HiSeq	Phase_I	Q8IYX8	CE57L_HUMAN			10	1366	+			263					G5E992	Silent	SNP	ENST00000517392.1	37	c.789A>G	CCDS5071.1																																																																																				0.328	CEP57L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041734.4	0	NM_173830		6:109480272
PTGES3L	100885848	broad.mit.edu	37	17	41122314	41122314	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:41122314C>A	ENST00000453594.1	-	5	799	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.D185Y|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.D124Y|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.D94Y|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.D185Y|PTGES3L_ENST00000409446.3_Missense_Mutation_p.D147Y	NM_001142653.1|NM_001261430.1	NP_001136125.1|NP_001248359.1	E9PB15	PTG3L_HUMAN	prostaglandin E synthase 3 (cytosolic)-like	152	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.							p.D124N(1)									ACATCCAAATCATCCATGGCA	0.453																																						ENST00000421990.2		NA																	1	Substitution - Missense(1)	p.D124N(1)	lung(1)		NA						c.(553-555)Gat>Tat									286.0	290.0	289.0					17																	41122314		2203	4300	6503	SO:0001583	missense	0							g.chr17:41122314C>A		CCDS45692.1	17q21.31	2012-10-05				ENSG00000267060			43943	protein-coding gene	gene with protein product							Standard	NM_001142653		Approved			E9PB15	OTTHUMG00000180906	ENST00000453594.1:c.454G>T	17.37:g.41122314C>A	ENSP00000394415:p.Asp152Tyr	False	False		Somatic	0				PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.D94Y|PTGES3L_ENST00000409446.3_Missense_Mutation_p.D147Y|PTGES3L_ENST00000453594.1_Missense_Mutation_p.D152Y|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.D185Y|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.D124Y	p.D185Y	NM_001136042.2	NP_001129514.2	WXS	Illumina HiSeq	Phase_I					6	898	-			NA						Missense_Mutation	SNP	ENST00000453594.1	37	c.553G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.2|20.2|20.2	3.958164|3.958164|3.958164	0.73902|0.73902|0.73902	.|.|.	.|.|.	ENSG00000108825|ENSG00000108825|ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000409103;ENST00000454303;ENST00000453594;ENST00000409446|ENST00000424284|ENST00000452752	T;T;T;T|.|.	0.72282|.|.	-0.64;-0.64;-0.64;-0.64|.|.	5.15|5.15|5.15	5.15|5.15|5.15	0.70609|0.70609|0.70609	.|.|.	0.154247|.|.	0.45126|.|.	D|.|.	0.000395|.|.	T|T|.	0.61173|0.61173|.	0.2326|0.2326|.	L|L|L	0.38175|0.38175|0.38175	1.15|1.15|1.15	.|.|.	.|.|.	.|.|.	D;D;D;D;D|.|.	0.89917|.|.	1.0;1.0;0.998;1.0;1.0|.|.	D;D;D;D;D|.|.	0.76575|.|.	0.988;0.988;0.948;0.977;0.977|.|.	T|T|.	0.56854|0.56854|.	-0.7910|-0.7910|.	9|4|.	0.52906|.|.	T|.|.	0.07|.|.	-25.4221|-25.4221|-25.4221	18.835|18.835|18.835	0.92159|0.92159|0.92159	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	152;147;185;94;142|.|.	E9PB15;B9A003;B4DI73;C9J5N1;B3KSP9|.|.	.;.;.;.;.|.|.	Y|I|L	124;185;185;94;124;152;147|113|113	ENSP00000353355:D124Y;ENSP00000386621:D185Y;ENSP00000409924:D185Y;ENSP00000386254:D94Y|.|.	ENSP00000353355:D124Y|.|.	D|M|X	-|-|-	1|3|2	0|0|2	AARSD1|AARSD1|AARSD1	38375840|38375840|38375840	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.886000|0.886000|0.886000	0.51366|0.51366|0.51366	5.206000|5.206000|5.206000	0.65192|0.65192|0.65192	2.674000|2.674000|2.674000	0.91012|0.91012|0.91012	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAT|ATG|TGA		0.453	PTGES3L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	NM_001142653		17:41122314
ASPN	54829	broad.mit.edu	37	9	95232987	95232987	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:95232987G>T	ENST00000375544.3	-	3	594	c.351C>A	c.(349-351)atC>atA	p.I117I	ASPN_ENST00000375543.1_Silent_p.I117I|ASPN_ENST00000395538.3_Silent_p.I117I|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	117					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						CATTTTCTTTGATTTCCTTAA	0.289																																						ENST00000375544.3		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						c.(349-351)atC>atA		asporin							79.0	83.0	81.0					9																	95232987		2202	4289	6491	SO:0001819	synonymous_variant	54829				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	g.chr9:95232987G>T	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.351C>A	9.37:g.95232987G>T		True	False		Somatic	0				ASPN_ENST00000375543.1_Silent_p.I117I|ASPN_ENST00000395538.3_Silent_p.I117I|CENPP_ENST00000375587.3_Intron	p.I117I	NM_017680.4	NP_060150.4	WXS	Illumina HiSeq	Phase_I	Q9BXN1	ASPN_HUMAN			3	594	-			117					Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Silent	SNP	ENST00000375544.3	37	c.351C>A																																																																																					0.289	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	0	NM_017680		9:95232987
ZNF441	126068	broad.mit.edu	37	19	11892184	11892184	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:11892184C>A	ENST00000357901.4	+	4	1647	c.1545C>A	c.(1543-1545)ccC>ccA	p.P515P	ZNF441_ENST00000454339.2_Silent_p.P448P	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGATTCTCCCAGTTCATTTC	0.403																																						ENST00000357901.4		NA																	0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1543-1545)ccC>ccA		zinc finger protein 441							76.0	76.0	76.0					19																	11892184		2203	4299	6502	SO:0001819	synonymous_variant	126068				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11892184C>A	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1545C>A	19.37:g.11892184C>A		True	False		Somatic	0				ZNF441_ENST00000454339.2_Silent_p.P448P	p.P515P	NM_152355.2	NP_689568.2	WXS	Illumina HiSeq	Phase_I	Q8N8Z8	ZN441_HUMAN			4	1647	+			515						Silent	SNP	ENST00000357901.4	37	c.1545C>A	CCDS12266.2																																																																																				0.403	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	0	NM_152355		19:11892184
ADAMTS2	9509	broad.mit.edu	37	5	178552049	178552049	+	Silent	SNP	G	G	A	rs370397254		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:178552049G>A	ENST00000251582.7	-	19	2984	c.2883C>T	c.(2881-2883)gaC>gaT	p.D961D		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	961	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CGGGCCGGGCGTCATTGCAGT	0.701																																						ENST00000251582.7		NA																	0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(2881-2883)gaC>gaT		ADAM metallopeptidase with thrombospondin type 1 motif, 2		G		0,4406		0,0,2203	74.0	78.0	76.0		2883	2.0	0.4	5		76	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAMTS2	NM_014244.4		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		961/1212	178552049	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178552049G>A	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2883C>T	5.37:g.178552049G>A		False	False		Somatic	0					p.D961D	NM_014244.4	NP_055059.2	WXS	Illumina HiSeq	Phase_I	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	19	2984	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	961			TSP type-1 3.			Silent	SNP	ENST00000251582.7	37	c.2883C>T	CCDS4444.1																																																																																				0.701	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	0	NM_014244		5:178552049
ABCA7	10347	broad.mit.edu	37	19	1045184	1045184	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:1045184C>A	ENST00000263094.6	+	12	1630	c.1399C>A	c.(1399-1401)Cgc>Agc	p.R467S	ABCA7_ENST00000435683.2_Missense_Mutation_p.R329S|ABCA7_ENST00000433129.1_Missense_Mutation_p.R467S	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	467					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCAAAATCCGCATGGACAT	0.642																																						ENST00000263094.6		NA																	0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1399-1401)Cgc>Agc		ATP-binding cassette, sub-family A (ABC1), member 7							43.0	44.0	44.0					19																	1045184		2202	4299	6501	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1045184C>A	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1399C>A	19.37:g.1045184C>A	ENSP00000263094:p.Arg467Ser	False	False		Somatic	0				ABCA7_ENST00000433129.1_Missense_Mutation_p.R467S|ABCA7_ENST00000435683.2_Missense_Mutation_p.R329S	p.R467S	NM_019112.3	NP_061985.2	WXS	Illumina HiSeq	Phase_I	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1630	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	467					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1399C>A	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592794	0.86953	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.98762	-5.12;-5.12	4.66	4.66	0.58398	.	.	.	.	.	D	0.99108	0.9693	M	0.85630	2.765	0.40486	D	0.980498	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99869	1.1093	9	0.87932	D	0	.	15.007	0.71519	0.0:1.0:0.0:0.0	.	329;467	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	S	467	ENSP00000263094:R467S;ENSP00000414062:R467S	ENSP00000263094:R467S	R	+	1	0	ABCA7	996184	0.996000	0.38824	1.000000	0.80357	0.911000	0.54048	3.113000	0.50376	2.118000	0.64928	0.462000	0.41574	CGC		0.642	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	0	NM_019112		19:1045184
ENAH	55740	broad.mit.edu	37	1	225718263	225718263	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:225718263G>T	ENST00000366844.3	-	4	878	c.427C>A	c.(427-429)Caa>Aaa	p.Q143K	ENAH_ENST00000284563.6_Missense_Mutation_p.Q162K|ENAH_ENST00000366843.2_Missense_Mutation_p.Q143K|ENAH_ENST00000391874.2_5'UTR	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	143					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|intracellular transport (GO:0046907)|neural tube closure (GO:0001843)|T cell receptor signaling pathway (GO:0050852)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)|synapse (GO:0045202)	WW domain binding (GO:0050699)			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TACCTTCTTTGAATTTCCAAT	0.358																																						ENST00000366844.2		NA																	0				NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(427-429)Caa>Aaa		enabled homolog (Drosophila)							140.0	148.0	145.0					1																	225718263		2203	4300	6503	SO:0001583	missense	55740				axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding	g.chr1:225718263G>T	AK001635	CCDS31040.1, CCDS31041.1	1q32.2	2013-08-06			ENSG00000154380	ENSG00000154380			18271	protein-coding gene	gene with protein product	"""mammalian enabled"""	609061				1420303	Standard	XM_005273182		Approved	FLJ10773, NDPP1, MENA	uc001hpc.1	Q8N8S7	OTTHUMG00000037742	ENST00000366844.3:c.427C>A	1.37:g.225718263G>T	ENSP00000355809:p.Gln143Lys	True	False		Somatic	0				ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000366843.2_Missense_Mutation_p.Q143K|ENAH_ENST00000284563.6_Missense_Mutation_p.Q162K	p.Q143K	NM_001008493.1	NP_001008493.1	WXS	Illumina HiSeq	Phase_I	Q8N8S7	ENAH_HUMAN		GBM - Glioblastoma multiforme(131;0.19)	4	878	-	Breast(184;0.206)		143					D0PQI2|Q502W5|Q5T5M7|Q5VTQ9|Q5VTR0|Q9NVF3|Q9UFB8	Missense_Mutation	SNP	ENST00000366844.3	37	c.427C>A	CCDS31041.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.309196	0.60414	.	.	ENSG00000154380	ENST00000366844;ENST00000366843;ENST00000284563;ENST00000538194	T;T;T	0.44881	1.13;1.13;0.91	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.56529	0.1991	L	0.32530	0.975	0.80722	D	1	D;D	0.58268	0.982;0.969	D;D	0.70227	0.968;0.93	T	0.55477	-0.8135	10	0.56958	D	0.05	-16.017	19.9859	0.97351	0.0:0.0:1.0:0.0	.	143;143	Q8N8S7-2;Q8N8S7	.;ENAH_HUMAN	K	143;143;162;142	ENSP00000355809:Q143K;ENSP00000355808:Q143K;ENSP00000284563:Q162K	ENSP00000284563:Q162K	Q	-	1	0	ENAH	223784886	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.558000	0.82253	2.717000	0.92951	0.555000	0.69702	CAA		0.358	ENAH-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357426.2	0	NM_018212		1:225718263
RREB1	6239	broad.mit.edu	37	6	7182158	7182158	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:7182158C>A	ENST00000349384.6	+	4	328	c.14C>A	c.(13-15)tCg>tAg	p.S5*	RREB1_ENST00000379938.2_Nonsense_Mutation_p.S5*|RP11-405O10.2_ENST00000451355.2_RNA|RREB1_ENST00000334984.6_Nonsense_Mutation_p.S5*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.S5*	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	5					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)				ACGTCAAGTTCGCCCGCTGGC	0.498																																						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.(13-15)tCg>tAg		ras responsive element binding protein 1							169.0	179.0	176.0					6																	7182158		2203	4300	6503	SO:0001587	stop_gained	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.chr6:7182158C>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.14C>A	6.37:g.7182158C>A	ENSP00000305560:p.Ser5*	False	False		Somatic	0				RREB1_ENST00000379933.3_Nonsense_Mutation_p.S5*|RREB1_ENST00000334984.6_Nonsense_Mutation_p.S5*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.S5*	p.S5*	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	WXS	Illumina HiSeq	Phase_I	Q92766	RREB1_HUMAN			4	551	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	5					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Nonsense_Mutation	SNP	ENST00000349384.6	37	c.14C>A	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	19.45	3.830457	0.71258	.	.	ENSG00000124782	ENST00000379933;ENST00000491191;ENST00000379938;ENST00000471433;ENST00000349384;ENST00000334984;ENST00000483150	.	.	.	6.03	5.16	0.70880	.	0.622831	0.14213	N	0.333932	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.309	10.7325	0.46104	0.0:0.8551:0.0:0.1449	.	.	.	.	X	5	.	ENSP00000335574:S5X	S	+	2	0	RREB1	7127157	0.054000	0.20591	0.572000	0.28498	0.334000	0.28698	0.706000	0.25690	1.563000	0.49615	-0.140000	0.14226	TCG		0.498	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	0			6:7182158
DYSF	8291	broad.mit.edu	37	2	71891480	71891480	+	Nonsense_Mutation	SNP	G	G	T	rs368142107		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:71891480G>T	ENST00000258104.3	+	45	5246	c.4969G>T	c.(4969-4971)Gaa>Taa	p.E1657*	DYSF_ENST00000394120.2_Nonsense_Mutation_p.E1658*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.E1695*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.E1688*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.E1678*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.E1689*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.E1675*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.E1679*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.E1665*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.E1696*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.E1674*|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1657	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTCCAAGGACGAAAAGATCGG	0.552																																						ENST00000258104.3		NA																	0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111	GRCh37	CM070072	DYSF	M		c.(4969-4971)Gaa>Taa		dysferlin							113.0	92.0	99.0					2																	71891480		2203	4300	6503	SO:0001587	stop_gained	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71891480G>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4969G>T	2.37:g.71891480G>T	ENSP00000258104:p.Glu1657*	True	False		Somatic	0				DYSF_ENST00000409762.1_Nonsense_Mutation_p.E1674*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Nonsense_Mutation_p.E1689*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.E1658*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.E1696*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.E1678*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.E1675*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.E1665*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.E1695*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.E1679*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.E1688*	p.E1657*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	WXS	Illumina HiSeq	Phase_I	O75923	DYSF_HUMAN			45	5246	+			1657			C2 5.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Nonsense_Mutation	SNP	ENST00000258104.3	37	c.4969G>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	G	48	13.931724	0.99771	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-19.6304	16.0724	0.80943	0.0:0.0:1.0:0.0	.	.	.	.	X	1688;1674;1695;1678;1657;1689;1658;1665;1679;1696;1675	.	ENSP00000258104:E1657X	E	+	1	0	DYSF	71744988	1.000000	0.71417	0.932000	0.37286	0.935000	0.57460	7.864000	0.87037	2.393000	0.81446	0.561000	0.74099	GAA		0.552	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	0	NM_003494		2:71891480
FUCA2	2519	broad.mit.edu	37	6	143823168	143823168	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:143823168C>A	ENST00000002165.6	-	5	1110	c.1055G>T	c.(1054-1056)cGa>cTa	p.R352L	RP1-20N2.6_ENST00000589489.1_RNA|FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|FUCA2_ENST00000367585.1_5'UTR|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	352					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		TTGCCTCAGTCGCTCCTCAAA	0.443																																						ENST00000002165.5		NA																	0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1054-1056)cGa>cTa		fucosidase, alpha-L- 2, plasma							89.0	86.0	87.0					6																	143823168		2203	4300	6503	SO:0001583	missense	2519				fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	g.chr6:143823168C>A	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.1055G>T	6.37:g.143823168C>A	ENSP00000002165:p.Arg352Leu	False	False		Somatic	0				RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000367585.1_3'UTR|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000438118.2_3'UTR	p.R352L	NM_032020.4	NP_114409.2	WXS	Illumina HiSeq	Phase_I	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	5	1110	-			352					E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	ENST00000002165.6	37	c.1055G>T	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	C	35	5.462906	0.96257	.	.	ENSG00000001036	ENST00000002165;ENST00000451668	T;T	0.58358	0.34;0.34	5.98	5.98	0.97165	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.72211	0.3432	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.67898	-0.5551	10	0.30854	T	0.27	-21.6749	20.4581	0.99154	0.0:1.0:0.0:0.0	.	31;352	Q7Z6V2;Q9BTY2	.;FUCO2_HUMAN	L	352;31	ENSP00000002165:R352L;ENSP00000398119:R31L	ENSP00000002165:R352L	R	-	2	0	FUCA2	143864861	1.000000	0.71417	0.910000	0.35882	0.949000	0.60115	7.445000	0.80570	2.835000	0.97688	0.650000	0.86243	CGA		0.443	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	0	NM_032020		6:143823168
SYNRG	11276	broad.mit.edu	37	17	35902213	35902213	+	Silent	SNP	C	C	A	rs370791933		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:35902213C>A	ENST00000339208.6	-	15	3203	c.3063G>T	c.(3061-3063)tcG>tcT	p.S1021S	SYNRG_ENST00000345615.4_Silent_p.S943S|SYNRG_ENST00000591288.1_Silent_p.S815S|SYNRG_ENST00000585472.1_Silent_p.S942S|SYNRG_ENST00000502449.2_Silent_p.S898S|SYNRG_ENST00000394378.2_Silent_p.S943S|SYNRG_ENST00000346661.4_Silent_p.S1021S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1021					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAAGTCATCCGAACATTCGT	0.483																																						ENST00000339208.6		NA																	0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(3061-3063)tcG>tcT		synergin, gamma							85.0	90.0	89.0					17																	35902213		2203	4300	6503	SO:0001819	synonymous_variant	11276				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding	g.chr17:35902213C>A	AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3063G>T	17.37:g.35902213C>A		False	False		Somatic	0				SYNRG_ENST00000585472.1_Silent_p.S942S|SYNRG_ENST00000502449.2_Silent_p.S898S|SYNRG_ENST00000394378.2_Silent_p.S943S|SYNRG_ENST00000345615.4_Silent_p.S943S|SYNRG_ENST00000346661.4_Silent_p.S1021S|SYNRG_ENST00000591288.1_Silent_p.S815S	p.S1021S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	WXS	Illumina HiSeq	Phase_I	Q9UMZ2	SYNRG_HUMAN			15	3203	-			1021					A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	ENST00000339208.6	37	c.3063G>T	CCDS11321.1																																																																																				0.483	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256811.2	0	NM_007247		17:35902213
MUM1	84939	broad.mit.edu	37	19	1357015	1357015	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:1357015C>T	ENST00000415183.3	+	2	94	c.68C>T	c.(67-69)gCc>gTc	p.A23V	MUM1_ENST00000591806.1_Missense_Mutation_p.A23V|MUM1_ENST00000344663.3_Missense_Mutation_p.A23V|MUM1_ENST00000311401.5_5'UTR			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	22					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGGTTTTGGCCCGAACCGCG	0.368																																						ENST00000344663.3		NA																	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(67-69)gCc>gTc		melanoma associated antigen (mutated) 1							116.0	109.0	112.0					19																	1357015		2203	4300	6503	SO:0001583	missense	84939				chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding	g.chr19:1357015C>T	AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.68C>T	19.37:g.1357015C>T	ENSP00000394925:p.Ala23Val	True	False		Somatic	0				MUM1_ENST00000591806.1_Missense_Mutation_p.A23V|MUM1_ENST00000311401.5_5'UTR|MUM1_ENST00000415183.3_Missense_Mutation_p.A23V	p.A23V			WXS	Illumina HiSeq	Phase_I	Q2TAK8	MUM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	169	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	22					A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	ENST00000415183.3	37	c.68C>T		.	.	.	.	.	.	.	.	.	.	C	12.76	2.035798	0.35893	.	.	ENSG00000160953	ENST00000344663;ENST00000356765;ENST00000415183	T;T	0.34072	1.38;1.38	5.2	1.58	0.23477	.	0.431802	0.21489	N	0.073707	T	0.34513	0.0900	L	0.55481	1.735	0.18873	N	0.999988	B;D	0.53151	0.319;0.958	B;P	0.47827	0.096;0.558	T	0.17077	-1.0381	10	0.54805	T	0.06	.	5.3598	0.16081	0.349:0.5509:0.0:0.1	.	23;22	B7ZLY8;Q2TAK8	.;MUM1_HUMAN	V	23;49;23	ENSP00000345789:A23V;ENSP00000394925:A23V	ENSP00000345789:A23V	A	+	2	0	MUM1	1308015	0.026000	0.19158	0.128000	0.21923	0.067000	0.16453	0.698000	0.25571	0.185000	0.20105	0.655000	0.94253	GCC		0.368	MUM1-016	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000449510.1	0	NM_032853		19:1357015
KIF1B	23095	broad.mit.edu	37	1	10434488	10434488	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:10434488C>A	ENST00000377086.1	+	46	5263	c.5061C>A	c.(5059-5061)ctC>ctA	p.L1687L	KIF1B_ENST00000377081.1_Silent_p.L1687L|KIF1B_ENST00000263934.6_Silent_p.L1641L			O60333	KIF1B_HUMAN	kinesin family member 1B	1687					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACGAATTTCTCAATCTTGTTC	0.433																																						ENST00000377086.1		NA																	0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(5059-5061)ctC>ctA		kinesin family member 1B							85.0	91.0	89.0					1																	10434488		2203	4300	6503	SO:0001819	synonymous_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10434488C>A	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.5061C>A	1.37:g.10434488C>A		False	False		Somatic	0				KIF1B_ENST00000377081.1_Silent_p.L1687L|KIF1B_ENST00000263934.6_Silent_p.L1641L	p.L1687L			WXS	Illumina HiSeq	Phase_I	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	46	5263	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1687					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.5061C>A																																																																																					0.433	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1	0			1:10434488
SHMT2	6472	broad.mit.edu	37	12	57626290	57626290	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:57626290C>A	ENST00000328923.3	+	6	1101	c.649C>A	c.(649-651)Cgg>Agg	p.R217R	SHMT2_ENST00000393827.4_Silent_p.R121R|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000557487.1_Silent_p.R207R|SHMT2_ENST00000414700.3_Silent_p.R196R|SHMT2_ENST00000553474.1_Silent_p.R196R|SHMT2_ENST00000449049.3_Silent_p.R196R	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	217					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	TCGACTTTTCCGGCCACGGCT	0.592																																					Esophageal Squamous(150;1369 2416 49071 49364)	ENST00000328923.3		NA																	0				breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(649-651)Cgg>Agg		serine hydroxymethyltransferase 2 (mitochondrial)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)						101.0	100.0	100.0					12																	57626290		2203	4300	6503	SO:0001819	synonymous_variant	6472					microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity	g.chr12:57626290C>A	AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.649C>A	12.37:g.57626290C>A		False	False		Somatic	0				SHMT2_ENST00000393827.4_Silent_p.R121R|SHMT2_ENST00000557487.1_Silent_p.R207R|SHMT2_ENST00000553474.1_Silent_p.R196R|SHMT2_ENST00000414700.3_Silent_p.R196R|SHMT2_ENST00000554600.1_3'UTR|SHMT2_ENST00000449049.3_Silent_p.R196R	p.R217R	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	WXS	Illumina HiSeq	Phase_I	P34897	GLYM_HUMAN			6	1101	+			217					B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Silent	SNP	ENST00000328923.3	37	c.649C>A	CCDS8934.1	.	.	.	.	.	.	.	.	.	.	C	9.567	1.119947	0.20877	.	.	ENSG00000182199	ENST00000557529	.	.	.	5.09	3.19	0.36642	.	.	.	.	.	T	0.67515	0.2901	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65340	-0.6192	4	.	.	.	-1.3088	13.288	0.60253	0.2884:0.7116:0.0:0.0	.	.	.	.	Q	16	.	.	P	+	2	0	SHMT2	55912557	1.000000	0.71417	0.993000	0.49108	0.866000	0.49608	1.494000	0.35616	0.796000	0.33947	0.563000	0.77884	CCG		0.592	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2	0	NM_005412		12:57626290
PLCG2	5336	broad.mit.edu	37	16	81973662	81973662	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:81973662C>A	ENST00000359376.3	+	30	3693	c.3479C>A	c.(3478-3480)tCa>tAa	p.S1160*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1160					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCAGTCAAATCAGGTAAGAGG	0.408																																						ENST00000359376.3		NA																	0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(3478-3480)tCa>tAa		phospholipase C, gamma 2 (phosphatidylinositol-specific)							100.0	94.0	96.0					16																	81973662		1869	4109	5978	SO:0001587	stop_gained	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81973662C>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3479C>A	16.37:g.81973662C>A	ENSP00000352336:p.Ser1160*	False	False		Somatic	0					p.S1160*	NM_002661.3	NP_002652.2	WXS	Illumina HiSeq	Phase_I	P16885	PLCG2_HUMAN			30	3693	+			1160					D3DUL3|Q3ZTS2|Q59H45|Q969T5	Nonsense_Mutation	SNP	ENST00000359376.3	37	c.3479C>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	43	10.461882	0.99409	.	.	ENSG00000197943	ENST00000359376	.	.	.	5.51	5.51	0.81932	.	0.065762	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	19.4315	0.94772	0.0:1.0:0.0:0.0	.	.	.	.	X	1160	.	ENSP00000352336:S1160X	S	+	2	0	PLCG2	80531163	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	7.487000	0.81328	2.600000	0.87896	0.655000	0.94253	TCA		0.408	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1	0			16:81973662
IMPG2	50939	broad.mit.edu	37	3	101038452	101038452	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:101038452G>T	ENST00000193391.7	-	2	497	c.310C>A	c.(310-312)Cat>Aat	p.H104N		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	104					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TACTTCACATGATTTGCCACA	0.378																																						ENST00000193391.7		NA																	0				NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(310-312)Cat>Aat		interphotoreceptor matrix proteoglycan 2							144.0	141.0	142.0					3																	101038452		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:101038452G>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.310C>A	3.37:g.101038452G>T	ENSP00000193391:p.His104Asn	False	False		Somatic	0					p.H104N	NM_016247.3	NP_057331.2	WXS	Illumina HiSeq	Phase_I	Q9BZV3	IMPG2_HUMAN			2	497	-			104					A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.310C>A	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195273	0.78902	.	.	ENSG00000081148	ENST00000193391	T	0.77750	-1.12	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.88448	0.6439	M	0.79123	2.44	0.45762	D	0.998658	D	0.76494	0.999	D	0.83275	0.996	D	0.89522	0.3779	10	0.87932	D	0	-13.0185	17.6116	0.88055	0.0:0.0:1.0:0.0	.	104	Q9BZV3	IMPG2_HUMAN	N	104	ENSP00000193391:H104N	ENSP00000193391:H104N	H	-	1	0	IMPG2	102521142	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.023000	0.76437	2.590000	0.87494	0.563000	0.77884	CAT		0.378	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3	0			3:101038452
TRPM7	54822	broad.mit.edu	37	15	50929637	50929637	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:50929637G>T	ENST00000313478.7	-	7	1095	c.814C>A	c.(814-816)Cag>Aag	p.Q272K	TRPM7_ENST00000560955.1_Missense_Mutation_p.Q272K	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	272					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATTCTTTGCTGATTAATAGTT	0.358																																						ENST00000313478.7		NA																	0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52						c.(814-816)Cag>Aag		transient receptor potential cation channel, subfamily M, member 7							88.0	84.0	85.0					15																	50929637		1853	4089	5942	SO:0001583	missense	54822				cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity	g.chr15:50929637G>T	AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.814C>A	15.37:g.50929637G>T	ENSP00000320239:p.Gln272Lys	False	False		Somatic	0				TRPM7_ENST00000560955.1_Missense_Mutation_p.Q272K	p.Q272K	NM_017672.4	NP_060142.3	WXS	Illumina HiSeq	Phase_I	Q96QT4	TRPM7_HUMAN		all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)	7	1095	-			272					Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	c.814C>A	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696509	0.48202	.	.	ENSG00000092439	ENST00000313478	T	0.61158	0.13	5.36	5.36	0.76844	.	0.199755	0.43416	D	0.000577	T	0.36663	0.0975	N	0.16656	0.425	0.28451	N	0.916321	B	0.22080	0.064	B	0.16289	0.015	T	0.14755	-1.0461	10	0.12103	T	0.63	-1.1516	10.7969	0.46466	0.1448:0.0:0.8552:0.0	.	272	Q96QT4	TRPM7_HUMAN	K	272	ENSP00000320239:Q272K	ENSP00000320239:Q272K	Q	-	1	0	TRPM7	48716929	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.528000	0.60580	2.805000	0.96524	0.650000	0.86243	CAG		0.358	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1	0	NM_017672		15:50929637
TRIM25	7706	broad.mit.edu	37	17	54972919	54972919	+	Silent	SNP	C	C	A	rs145816750	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:54972919C>A	ENST00000316881.4	-	7	1276	c.1227G>T	c.(1225-1227)ccG>ccT	p.P409P	TRIM25_ENST00000537230.1_Silent_p.P409P	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	409	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CTAACTGTTCCGGGGCTCCAA	0.517																																						ENST00000316881.4		NA																	0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1225-1227)ccG>ccT		tripartite motif containing 25							129.0	131.0	130.0					17																	54972919		2203	4300	6503	SO:0001819	synonymous_variant	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54972919C>A	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1227G>T	17.37:g.54972919C>A		True	False		Somatic	0				TRIM25_ENST00000537230.1_Silent_p.P409P	p.P409P	NM_005082.4	NP_005073.2	WXS	Illumina HiSeq	Phase_I	Q14258	TRI25_HUMAN			7	1276	-	Breast(9;6.15e-08)		409			Interaction with influenza A virus NS1.			Silent	SNP	ENST00000316881.4	37	c.1227G>T	CCDS11591.1																																																																																				0.517	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	0	NM_005082		17:54972919
SUCLA2	8803	broad.mit.edu	37	13	48570988	48570988	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:48570988G>T	ENST00000378654.3	-	2	317	c.261C>A	c.(259-261)gcC>gcA	p.A87A	SUCLA2_ENST00000543413.1_Silent_p.A29A|SUCLA2_ENST00000544100.1_5'UTR|SUCLA2_ENST00000497202.1_5'UTR|SUCLA2_ENST00000534875.1_Silent_p.A29A	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	87	ATP-grasp.				cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|succinyl-CoA pathway (GO:0006781)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	CTAATTTTTTGGCAATTGCAT	0.368																																						ENST00000378654.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15						c.(259-261)gcC>gcA		succinate-CoA ligase, ADP-forming, beta subunit	Succinic acid(DB00139)						126.0	121.0	123.0					13																	48570988		2203	4300	6503	SO:0001819	synonymous_variant	8803				succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr13:48570988G>T	AF058953	CCDS9406.1	13q12.2-q13.3	2010-04-16			ENSG00000136143	ENSG00000136143	6.2.1.5		11448	protein-coding gene	gene with protein product		603921				9765291	Standard	NM_003850		Approved		uc001vbs.3	Q9P2R7	OTTHUMG00000016889	ENST00000378654.3:c.261C>A	13.37:g.48570988G>T		True	False		Somatic	0				SUCLA2_ENST00000544100.1_5'UTR|SUCLA2_ENST00000543413.1_Silent_p.A29A|SUCLA2_ENST00000534875.1_Silent_p.A29A|SUCLA2_ENST00000497202.1_5'UTR	p.A87A	NM_003850.2	NP_003841.1	WXS	Illumina HiSeq	Phase_I	Q9P2R7	SUCB1_HUMAN		GBM - Glioblastoma multiforme(144;2.1e-06)	2	317	-		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	87			ATP-grasp.		B2RDE7|O95194|Q5T9Q4|Q5T9Q6|Q9NV21|Q9NVP7	Silent	SNP	ENST00000378654.3	37	c.261C>A	CCDS9406.1																																																																																				0.368	SUCLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044852.1	0			13:48570988
PRKCH	5583	broad.mit.edu	37	14	62014550	62014550	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:62014550C>A	ENST00000332981.5	+	13	2236	c.1851C>A	c.(1849-1851)atC>atA	p.I617I	PRKCH_ENST00000555082.1_Silent_p.I456I|RP11-47I22.1_ENST00000556543.1_RNA|PRKCH_ENST00000556245.1_3'UTR|RP11-47I22.4_ENST00000556347.1_Nonsense_Mutation_p.S122*	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	617	AGC-kinase C-terminal.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		TTAAGGAAATCGACTGGGCCC	0.522																																					Melanoma(135;863 1779 8064 14443 26348)	ENST00000556347.1		NA																	0					NA						c.(364-366)tCg>tAg									186.0	185.0	185.0					14																	62014550		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr14:62014550C>A	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1851C>A	14.37:g.62014550C>A		False	False		Somatic	0				PRKCH_ENST00000556245.1_3'UTR|PRKCH_ENST00000555082.1_Silent_p.I456I|PRKCH_ENST00000332981.5_Silent_p.I617I	p.S122*			WXS	Illumina HiSeq	Phase_I					3	365	+			NA					B4DJN5|Q16246|Q8NE03	Nonsense_Mutation	SNP	ENST00000332981.5	37	c.365C>A	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625782	0.28889	.	.	ENSG00000258989	ENST00000556347	.	.	.	5.99	-3.06	0.05379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	2.7596	0.05302	0.0995:0.3258:0.1509:0.4239	.	.	.	.	X	122	.	.	S	+	2	0	RP11-47I22.4	61084303	0.006000	0.16342	0.993000	0.49108	0.997000	0.91878	-1.142000	0.03203	-0.205000	0.10219	0.655000	0.94253	TCG		0.522	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	0	NM_006255		14:62014550
PPFIA2	8499	broad.mit.edu	37	12	81732982	81732982	+	Missense_Mutation	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:81732982T>C	ENST00000549396.1	-	21	2685	c.2525A>G	c.(2524-2526)gAa>gGa	p.E842G	PPFIA2_ENST00000407050.4_Missense_Mutation_p.E768G|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E824G|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E689G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E824G|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E59G|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E842G|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E842G|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E743G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E409G|PPFIA2_ENST00000550584.2_Missense_Mutation_p.E842G	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	842					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCGAGCTTTTTCTTTTTTACC	0.433																																						ENST00000550584.2		NA																	0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(2524-2526)gAa>gGa		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							199.0	195.0	196.0					12																	81732982		1853	4104	5957	SO:0001583	missense	8499							g.chr12:81732982T>C	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2525A>G	12.37:g.81732982T>C	ENSP00000450337:p.Glu842Gly	True	False		Somatic	0				PPFIA2_ENST00000552948.1_Missense_Mutation_p.E842G|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E824G|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E743G|PPFIA2_ENST00000549396.1_Missense_Mutation_p.E842G|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E409G|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E689G|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E824G|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E768G|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E842G|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E59G	p.E842G	NM_001220473.1	NP_001207402.1	WXS	Illumina HiSeq	Phase_I	B7Z663	B7Z663_HUMAN			20	2820	-			768					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2525A>G	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.680892	0.88542	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.84948	2.725	0.80722	D	1	D	0.63880	0.993	P	0.55923	0.787	T	0.55198	-0.8178	10	0.45353	T	0.12	-17.374	15.8745	0.79151	0.0:0.0:0.0:1.0	.	842	O75334	LIPA2_HUMAN	G	842;824;409;59;768;853;824;842;743;842	ENSP00000450337:E842G;ENSP00000450298:E824G;ENSP00000438337:E409G;ENSP00000445532:E59G;ENSP00000385093:E768G;ENSP00000327416:E824G;ENSP00000449338:E842G;ENSP00000388373:E743G;ENSP00000447868:E842G	ENSP00000327416:E824G	E	-	2	0	PPFIA2	80257113	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	7.937000	0.87672	2.151000	0.67156	0.459000	0.35465	GAA		0.433	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1	0			12:81732982
FH	2271	broad.mit.edu	37	1	241665755	241665755	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:241665755G>T	ENST00000366560.3	-	8	1262	c.1224C>A	c.(1222-1224)ttC>ttA	p.F408L		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	408					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TCATTGGCTTGAAAACATTCA	0.393			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	ENST00000366560.3		NA	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	"""Mis, N, F"""	fumarate hydratase			"""E, M"""		"""lieomyomatosis, renal"""			0				biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26						c.(1222-1224)ttC>ttA		fumarate hydratase							69.0	62.0	64.0					1																	241665755		2203	4300	6503	SO:0001583	missense	2271	Hereditary Leiomyomatosis and Renal Cell Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241665755G>T	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.1224C>A	1.37:g.241665755G>T	ENSP00000355518:p.Phe408Leu	True	False		Somatic	0					p.F408L	NM_000143.3	NP_000134.2	WXS	Illumina HiSeq	Phase_I	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	8	1262	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	408					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.1224C>A	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099784	0.56183	.	.	ENSG00000091483	ENST00000366560	D	0.90563	-2.69	5.61	2.71	0.32032	L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.91690	0.7373	M	0.92604	3.325	0.80722	D	1	B	0.33413	0.411	B	0.35312	0.2	D	0.88900	0.3352	10	0.87932	D	0	-28.1888	8.595	0.33710	0.2566:0.0:0.7434:0.0	.	408	P07954	FUMH_HUMAN	L	408	ENSP00000355518:F408L	ENSP00000355518:F408L	F	-	3	2	FH	239732378	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.979000	0.40608	0.311000	0.23014	-0.140000	0.14226	TTC		0.393	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1	0	NM_000143		1:241665755
TMF1	7110	broad.mit.edu	37	3	69073265	69073265	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:69073265G>T	ENST00000398559.2	-	16	3295	c.3079C>A	c.(3079-3081)Caa>Aaa	p.Q1027K	CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|TMF1_ENST00000489370.1_5'Flank|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.Q1030K|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	1027					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)	p.Q1027E(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCATCATTTTGATTTGTTAAT	0.323																																						ENST00000543976.1		NA																	1	Substitution - Missense(1)	p.Q1027E(1)	cervix(1)	cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(3088-3090)Caa>Aaa		TATA element modulatory factor 1							167.0	154.0	158.0					3																	69073265		1831	4077	5908	SO:0001583	missense	7110				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	g.chr3:69073265G>T		CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.3079C>A	3.37:g.69073265G>T	ENSP00000381567:p.Gln1027Lys	True	False		Somatic	0				CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.Q1027K|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA	p.Q1030K	NM_007114.2	NP_009045.2	WXS	Illumina HiSeq	Phase_I	P82094	TMF1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)	16	3334	-		Lung NSC(201;0.0193)|Prostate(884;0.174)	1027					B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	ENST00000398559.2	37	c.3088C>A	CCDS43105.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.033173	0.35893	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	D;D	0.83335	-1.71;-1.71	5.59	5.59	0.84812	.	0.211058	0.42964	D	0.000637	T	0.75561	0.3866	L	0.41492	1.28	0.44834	D	0.997846	P;P	0.42871	0.792;0.454	B;B	0.34931	0.173;0.192	T	0.73805	-0.3867	10	0.16896	T	0.51	-16.7561	19.6022	0.95568	0.0:0.0:1.0:0.0	.	1030;1027	P82094-2;P82094	.;TMF1_HUMAN	K	1027;1030;943	ENSP00000381567:Q1027K;ENSP00000438706:Q1030K	ENSP00000348582:Q943K	Q	-	1	0	TMF1	69155955	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.293000	0.78740	2.620000	0.88729	0.557000	0.71058	CAA		0.323	TMF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352106.1	0	NM_007114		3:69073265
CKAP5	9793	broad.mit.edu	37	11	46831366	46831366	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:46831366C>A	ENST00000529230.1	-	6	735	c.689G>T	c.(688-690)cGa>cTa	p.R230L	CKAP5_ENST00000415402.1_Missense_Mutation_p.R230L|CKAP5_ENST00000312055.5_Missense_Mutation_p.R230L|CKAP5_ENST00000354558.3_Missense_Mutation_p.R230L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	230					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ACGAAGAAATCGAGTAGGTCT	0.393																																					Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1		NA																	0				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(688-690)cGa>cTa		cytoskeleton associated protein 5							173.0	163.0	166.0					11																	46831366		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46831366C>A		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.689G>T	11.37:g.46831366C>A	ENSP00000432768:p.Arg230Leu	False	False		Somatic	0				CKAP5_ENST00000415402.1_Missense_Mutation_p.R230L|CKAP5_ENST00000354558.3_Missense_Mutation_p.R230L|CKAP5_ENST00000312055.5_Missense_Mutation_p.R230L	p.R230L			WXS	Illumina HiSeq	Phase_I	Q14008	CKAP5_HUMAN			6	735	-			230					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.689G>T	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149258	0.94645	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000378629;ENST00000354558	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74876	0.3774	M	0.86805	2.84	0.80722	D	1	D;B;D	0.76494	0.992;0.288;0.999	D;B;D	0.80764	0.979;0.186;0.994	T	0.78481	-0.2187	10	0.87932	D	0	-18.8626	19.9844	0.97341	0.0:1.0:0.0:0.0	.	230;230;230	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	L	230	ENSP00000432768:R230L;ENSP00000395302:R230L;ENSP00000310227:R230L;ENSP00000346566:R230L	ENSP00000310227:R230L	R	-	2	0	CKAP5	46787942	1.000000	0.71417	0.194000	0.23346	0.820000	0.46376	7.397000	0.79903	2.724000	0.93272	0.650000	0.86243	CGA		0.393	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	0	NM_014756		11:46831366
CNTNAP1	8506	broad.mit.edu	37	17	40843855	40843855	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:40843855C>A	ENST00000264638.4	+	16	2593	c.2376C>A	c.(2374-2376)acC>acA	p.T792T	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	792	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CCTTCCACACCGGGGCTGCAC	0.552																																						ENST00000264638.4		NA																	0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(2374-2376)acC>acA		contactin associated protein 1							251.0	257.0	255.0					17																	40843855		2203	4300	6503	SO:0001819	synonymous_variant	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843855C>A	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2376C>A	17.37:g.40843855C>A		True	False		Somatic	0				CTD-3193K9.3_ENST00000592440.1_RNA	p.T792T	NM_003632.2	NP_003623.1	WXS	Illumina HiSeq	Phase_I	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	16	2593	+		Breast(137;0.000143)	792			Fibrinogen C-terminal.			Silent	SNP	ENST00000264638.4	37	c.2376C>A	CCDS11436.1																																																																																				0.552	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	0	NM_003632		17:40843855
TTK	7272	broad.mit.edu	37	6	80749500	80749500	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:80749500C>A	ENST00000369798.2	+	19	2329	c.2218C>A	c.(2218-2220)Cag>Aag	p.Q740K	TTK_ENST00000230510.3_Missense_Mutation_p.Q739K|TTK_ENST00000509894.1_Missense_Mutation_p.Q739K	NM_001166691.1|NM_003318.4	NP_001160163.1|NP_003309.2	P33981	TTK_HUMAN	TTK protein kinase	740	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				chromosome separation (GO:0051304)|mitotic spindle assembly checkpoint (GO:0007094)|mitotic spindle organization (GO:0007052)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|spindle organization (GO:0007051)	membrane (GO:0016020)|spindle (GO:0005819)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		GATAATTAATCAGATTTCTAA	0.308																																						ENST00000509894.1		NA																	0				endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53						c.(2215-2217)Cag>Aag		TTK protein kinase							66.0	67.0	67.0					6																	80749500		2203	4280	6483	SO:0001583	missense	7272				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr6:80749500C>A		CCDS4993.1, CCDS55040.1	6q14.1	2014-04-07			ENSG00000112742	ENSG00000112742			12401	protein-coding gene	gene with protein product	"""cancer/testis antigen 96"", ""monopolar spindle 1 kinase"""	604092				1639825	Standard	NM_003318		Approved	MPS1, MPS1L1, CT96, MPH1	uc003pjc.3	P33981	OTTHUMG00000015088	ENST00000369798.2:c.2218C>A	6.37:g.80749500C>A	ENSP00000358813:p.Gln740Lys	True	False		Somatic	0				TTK_ENST00000230510.3_Missense_Mutation_p.Q739K|TTK_ENST00000369798.2_Missense_Mutation_p.Q740K	p.Q739K			WXS	Illumina HiSeq	Phase_I	P33981	TTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0321)	19	3044	+		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)	740			Protein kinase.		A8K8U5|B2RDW2|E1P543|Q15272|Q5TCS0|Q9BW51|Q9NTM0	Missense_Mutation	SNP	ENST00000369798.2	37	c.2215C>A	CCDS4993.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133678	0.56828	.	.	ENSG00000112742	ENST00000509894;ENST00000230510;ENST00000369798	T;T;T	0.65916	-0.18;-0.18;-0.18	5.6	5.6	0.85130	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.102243	0.64402	D	0.000002	T	0.52964	0.1767	L	0.31578	0.945	0.80722	D	1	P;P	0.52170	0.898;0.951	P;P	0.51777	0.647;0.679	T	0.49925	-0.8887	10	0.33141	T	0.24	.	18.5974	0.91234	0.0:1.0:0.0:0.0	.	740;739	P33981;A8K8U5	TTK_HUMAN;.	K	739;739;740	ENSP00000422936:Q739K;ENSP00000230510:Q739K;ENSP00000358813:Q740K	ENSP00000230510:Q739K	Q	+	1	0	TTK	80806219	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	5.753000	0.68736	2.628000	0.89032	0.650000	0.86243	CAG		0.308	TTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041316.2	0			6:80749500
TATDN1	83940	broad.mit.edu	37	8	125498200	125498200	+	IGR	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:125498200G>T	ENST00000276692.6	-	0	1018				RP11-158K1.3_ENST00000518639.1_RNA|RNF139_ENST00000303545.3_Missense_Mutation_p.D104Y	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTGCACATTGACTTCTATGG	0.433																																						ENST00000303545.3		NA																	0				breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20						c.(310-312)Gac>Tac		ring finger protein 139							183.0	156.0	165.0					8																	125498200		2203	4300	6503	SO:0001628	intergenic_variant	11236				negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125498200G>T	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498200G>T		False	False		Somatic	0					p.D104Y	NM_007218.3	NP_009149.2	WXS	Illumina HiSeq	Phase_I	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	682	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		104					B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	c.310G>T	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808629	0.50421	.	.	ENSG00000170881	ENST00000303545	T	0.26067	1.76	5.06	5.06	0.68205	.	0.102754	0.64402	D	0.000004	T	0.37320	0.0999	L	0.59436	1.845	0.52501	D	0.999959	D	0.61080	0.989	P	0.58077	0.832	T	0.18555	-1.0333	10	0.72032	D	0.01	-14.249	6.8961	0.24257	0.2166:0.0:0.7834:0.0	.	104	Q8WU17	RN139_HUMAN	Y	104	ENSP00000304051:D104Y	ENSP00000304051:D104Y	D	+	1	0	RNF139	125567381	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.790000	0.69038	2.501000	0.84356	0.650000	0.86243	GAC		0.433	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	0	NM_032026		8:125498200
FBXO7	25793	broad.mit.edu	37	22	32894260	32894260	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:32894260C>A	ENST00000266087.7	+	9	1639	c.1312C>A	c.(1312-1314)Cgc>Agc	p.R438S	FBXO7_ENST00000397426.1_Missense_Mutation_p.R324S|FBXO7_ENST00000382058.3_Missense_Mutation_p.R359S	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	438	Important for interaction with CDK6.|Pro-rich.				cell death (GO:0008219)|mitochondrion degradation (GO:0000422)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of lymphocyte differentiation (GO:0045620)|protein targeting to mitochondrion (GO:0006626)|protein ubiquitination (GO:0016567)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTAGCTCCCGCCTTCCTCC	0.527																																						ENST00000266087.7		NA																	0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1312-1314)Cgc>Agc		F-box protein 7							150.0	147.0	148.0					22																	32894260		2203	4300	6503	SO:0001583	missense	25793				cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr22:32894260C>A	AF129537	CCDS13907.1, CCDS58806.1	22q12.3	2013-09-19	2004-06-15		ENSG00000100225	ENSG00000100225		"""F-boxes /  ""other"""", ""Parkinson disease"""	13586	protein-coding gene	gene with protein product		605648	"""F-box only protein 7"""			10531035, 10531037, 19038853	Standard	NM_001257990		Approved	FBX7, Fbx, PARK15	uc003amq.3	Q9Y3I1	OTTHUMG00000030674	ENST00000266087.7:c.1312C>A	22.37:g.32894260C>A	ENSP00000266087:p.Arg438Ser	True	False		Somatic	0				FBXO7_ENST00000382058.3_Missense_Mutation_p.R359S|FBXO7_ENST00000397426.1_Missense_Mutation_p.R324S	p.R438S	NM_012179.3	NP_036311.3	WXS	Illumina HiSeq	Phase_I	Q9Y3I1	FBX7_HUMAN			9	1639	+			438					B4DNB3|B4DWX5|Q5TGC4|Q5TI86|Q96HM6|Q9UF21|Q9UKT2	Missense_Mutation	SNP	ENST00000266087.7	37	c.1312C>A	CCDS13907.1	.	.	.	.	.	.	.	.	.	.	C	1.553	-0.538761	0.04053	.	.	ENSG00000100225	ENST00000266087;ENST00000382058;ENST00000397426	T;T;T	0.71817	-0.6;-0.02;-0.02	5.93	1.15	0.20763	F-box domain, Skp2-like (1);	1.008250	0.07943	N	0.979622	T	0.46073	0.1374	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.29427	-1.0012	10	0.15499	T	0.54	-6.3306	6.6719	0.23074	0.3606:0.4872:0.0:0.1522	.	438;359;438	A8K7F7;Q9Y3I1-2;Q9Y3I1	.;.;FBX7_HUMAN	S	438;359;324	ENSP00000266087:R438S;ENSP00000371490:R359S;ENSP00000380571:R324S	ENSP00000266087:R438S	R	+	1	0	FBXO7	31224260	0.053000	0.20554	0.217000	0.23759	0.865000	0.49528	0.317000	0.19487	0.812000	0.34326	0.655000	0.94253	CGC		0.527	FBXO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129001.1	0			22:32894260
ANXA6	309	broad.mit.edu	37	5	150488089	150488089	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:150488089C>A	ENST00000354546.5	-	23	1934	c.1707G>T	c.(1705-1707)atG>atT	p.M569I	ANXA6_ENST00000521512.1_Missense_Mutation_p.M356I|ANXA6_ENST00000523714.1_Missense_Mutation_p.M537I|ANXA6_ENST00000356496.5_Missense_Mutation_p.M563I|ANXA6_ENST00000377751.5_Missense_Mutation_p.M226I	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	569					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATAGTTGGTCATCTTGATGA	0.577																																						ENST00000354546.5		NA																	0				endometrium(2)|kidney(1)|lung(9)	12						c.(1705-1707)atG>atT		annexin A6							182.0	181.0	181.0					5																	150488089		2008	4179	6187	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150488089C>A	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1707G>T	5.37:g.150488089C>A	ENSP00000346550:p.Met569Ile	False	False		Somatic	0				ANXA6_ENST00000523714.1_Missense_Mutation_p.M537I|ANXA6_ENST00000521512.1_Missense_Mutation_p.M356I|ANXA6_ENST00000377751.5_Missense_Mutation_p.M226I|ANXA6_ENST00000356496.5_Missense_Mutation_p.M563I	p.M569I	NM_001155.4	NP_001146.2	WXS	Illumina HiSeq	Phase_I	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	1934	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	569					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.1707G>T	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	C	3.983	-0.006052	0.07773	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.03242	4.0;4.0;4.0;4.0;4.0	5.57	4.69	0.59074	Annexin repeat, conserved site (1);	0.431335	0.27668	N	0.018342	T	0.02342	0.0072	N	0.16862	0.45	0.28661	N	0.906151	B;B;B	0.29571	0.08;0.249;0.006	B;B;B	0.32090	0.14;0.051;0.013	T	0.36504	-0.9745	10	0.02654	T	1	.	8.7658	0.34702	0.1487:0.7736:0.0:0.0777	.	356;563;569	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	I	569;537;226;563;356;443	ENSP00000346550:M569I;ENSP00000430517:M537I;ENSP00000366980:M226I;ENSP00000348889:M563I;ENSP00000430420:M356I	ENSP00000346550:M569I	M	-	3	0	ANXA6	150468282	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.922000	0.56462	1.334000	0.45468	0.655000	0.94253	ATG		0.577	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	0	NM_001155		5:150488089
PMFBP1	83449	broad.mit.edu	37	16	72174339	72174339	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:72174339C>A	ENST00000237353.10	-	6	1040	c.779G>T	c.(778-780)cGa>cTa	p.R260L	PMFBP1_ENST00000537465.1_Missense_Mutation_p.R260L|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R115L	NM_031293.2	NP_112583.2	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	260						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CAGCTTATTTCGAAGTTCTTG	0.463																																						ENST00000537465.1		NA																	0				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45						c.(778-780)cGa>cTa		polyamine modulated factor 1 binding protein 1							320.0	309.0	313.0					16																	72174339		2198	4300	6498	SO:0001583	missense	83449							g.chr16:72174339C>A	AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000237353.10:c.779G>T	16.37:g.72174339C>A	ENSP00000237353:p.Arg260Leu	True	False		Somatic	0				PMFBP1_ENST00000355636.6_Missense_Mutation_p.R115L|PMFBP1_ENST00000237353.10_Missense_Mutation_p.R260L	p.R260L			WXS	Illumina HiSeq	Phase_I	Q8TBY8	PMFBP_HUMAN			6	937	-		Ovarian(137;0.179)	260					B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	ENST00000237353.10	37	c.779G>T	CCDS32483.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.300024	0.81136	.	.	ENSG00000118557	ENST00000537465;ENST00000237353;ENST00000355636	T;T;T	0.17691	2.3;2.31;2.26	5.65	4.7	0.59300	.	0.000000	0.43260	D	0.000597	T	0.25975	0.0633	N	0.24115	0.695	0.39237	D	0.96379	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.08310	-1.0728	10	0.66056	D	0.02	-13.1898	10.3026	0.43661	0.0:0.9122:0.0:0.0878	.	260;260;260	Q8TBY8;Q8TBY8-2;G3V1Q7	PMFBP_HUMAN;.;.	L	260;260;115	ENSP00000443817:R260L;ENSP00000237353:R260L;ENSP00000347854:R115L	ENSP00000237353:R260L	R	-	2	0	PMFBP1	70731840	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	3.347000	0.52200	1.621000	0.50320	0.655000	0.94253	CGA		0.463	PMFBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396473.2	0	NM_031293		16:72174339
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	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_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_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_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_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
MTERF3	51001	broad.mit.edu	37	8	97263135	97263135	+	Splice_Site	SNP	T	T	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:97263135T>A	ENST00000287025.3	-	4	774	c.676A>T	c.(676-678)Agg>Tgg	p.R226W	MTERFD1_ENST00000523821.1_Splice_Site_p.R226W|MTERFD1_ENST00000524341.1_Splice_Site_p.R36W|MTERFD1_ENST00000522822.1_Splice_Site_p.R105W	NM_015942.3	NP_057026.3	Q96E29	MTEF3_HUMAN		226					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)	transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AAGTCCTACCTGGTCTTCAGA	0.368																																						ENST00000523821.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24						c.e4+1		MTERF domain containing 1							81.0	84.0	83.0					8																	97263135		2203	4300	6503	SO:0001630	splice_region_variant	51001				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	g.chr8:97263135T>A																												ENST00000287025.3:c.677+1A>T	8.37:g.97263135T>A		False	False		Somatic	0				MTERFD1_ENST00000522822.1_Splice_Site_p.R105_splice|MTERFD1_ENST00000287025.3_Splice_Site_p.R226_splice|MTERFD1_ENST00000524341.1_Splice_Site_p.R36_splice	p.R226_splice			WXS	Illumina HiSeq	Phase_I	Q96E29	MTER1_HUMAN			4	795	-	Breast(36;5.16e-05)		226					B3KMG6|G3V130|Q9Y301	Splice_Site	SNP	ENST00000287025.3	37	c.677_splice	CCDS6270.1	.	.	.	.	.	.	.	.	.	.	T	18.18	3.566661	0.65651	.	.	ENSG00000156469	ENST00000523821;ENST00000522822;ENST00000524341;ENST00000287025	T;T;T;T	0.11712	2.75;2.75;2.75;2.75	5.72	5.72	0.89469	.	0.090695	0.85682	D	0.000000	T	0.38054	0.1026	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.26883	-1.0090	10	0.40728	T	0.16	-6.2986	14.5668	0.68182	0.0:0.0:0.0:1.0	.	226;226	E5RIK9;Q96E29	.;MTER1_HUMAN	W	226;105;36;226	ENSP00000429400:R226W;ENSP00000430138:R105W;ENSP00000429267:R36W;ENSP00000287025:R226W	ENSP00000287025:R226W	R	-	1	2	MTERFD1	97332311	1.000000	0.71417	0.997000	0.53966	0.291000	0.27294	5.366000	0.66122	2.172000	0.68678	0.482000	0.46254	AGG		0.368	MTERFD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379876.1	0		Missense_Mutation	8:97263135
DDHD1	80821	broad.mit.edu	37	14	53518604	53518604	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:53518604G>T	ENST00000323669.5	-	12	2478	c.2479C>A	c.(2479-2481)Ctt>Att	p.L827I	DDHD1_ENST00000357758.3_Intron|DDHD1_ENST00000555621.1_Intron|DDHD1_ENST00000395606.1_Intron	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	827	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCCGGAAAAAGAAGTTGTGGG	0.343																																						ENST00000323669.5		NA																	0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(2479-2481)Ctt>Att		DDHD domain containing 1							80.0	70.0	73.0					14																	53518604		1566	3579	5145	SO:0001583	missense	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53518604G>T	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.2479C>A	14.37:g.53518604G>T	ENSP00000327104:p.Leu827Ile	True	False		Somatic	0				DDHD1_ENST00000357758.3_Intron|DDHD1_ENST00000395606.1_Intron|DDHD1_ENST00000555621.1_Intron	p.L827I	NM_001160148.1	NP_001153620.1	WXS	Illumina HiSeq	Phase_I	Q8NEL9	DDHD1_HUMAN			12	2478	-	Breast(41;0.037)		827			DDHD.		G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.2479C>A	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135008	0.56828	.	.	ENSG00000100523	ENST00000323669;ENST00000395610	.	.	.	6.07	5.19	0.71726	DDHD (2);	0.301493	0.30969	N	0.008510	T	0.36413	0.0966	N	0.08118	0	0.80722	D	1	P	0.38048	0.616	B	0.42738	0.396	T	0.28138	-1.0053	9	0.31617	T	0.26	-10.4012	11.0964	0.48147	0.084:0.0:0.916:0.0	.	827	Q8NEL9	DDHD1_HUMAN	I	827;698	.	ENSP00000327104:L827I	L	-	1	0	DDHD1	52588354	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.931000	0.48932	1.582000	0.49881	0.655000	0.94253	CTT		0.343	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1	0			14:53518604
LRRC37A3	374819	broad.mit.edu	37	17	62856801	62856801	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:62856801G>T	ENST00000584306.1	-	11	3993	c.3463C>A	c.(3463-3465)Caa>Aaa	p.Q1155K	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.Q132K|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.Q1155K|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.Q273K|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.Q193K	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1155						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCTACAGTTTGAATCTTTGCC	0.453																																						ENST00000584306.1		NA																	0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3463-3465)Caa>Aaa		leucine rich repeat containing 37, member A3							122.0	126.0	125.0					17																	62856801		2203	4300	6503	SO:0001583	missense	374819					integral to membrane		g.chr17:62856801G>T	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3463C>A	17.37:g.62856801G>T	ENSP00000464535:p.Gln1155Lys	True	False		Somatic	0				LRRC37A3_ENST00000319651.5_Missense_Mutation_p.Q1155K|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.Q132K|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.Q273K|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.Q193K	p.Q1155K	NM_199340.2	NP_955372.2	WXS	Illumina HiSeq	Phase_I	O60309	L37A3_HUMAN			11	3993	-			1155					Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.3463C>A	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	4.865	0.160854	0.09287	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.59502	1.5;1.5;0.26	2.23	-4.47	0.03525	.	.	.	.	.	T	0.39489	0.1080	L	0.43152	1.355	0.09310	N	1	B;P	0.38504	0.062;0.634	B;B	0.30105	0.039;0.111	T	0.28713	-1.0035	9	0.66056	D	0.02	.	7.1104	0.25386	0.1462:0.6419:0.2119:0.0	.	273;1155	B4DG20;O60309	.;L37A3_HUMAN	K	236;193;132;1155	ENSP00000383674:Q193K;ENSP00000335617:Q132K;ENSP00000325713:Q1155K	ENSP00000325713:Q1155K	Q	-	1	0	LRRC37A3	60287263	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-1.705000	0.01896	-0.797000	0.04450	-0.735000	0.03563	CAA		0.453	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	0	NM_199340		17:62856801
KEL	3792	broad.mit.edu	37	7	142650939	142650939	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:142650939C>A	ENST00000355265.2	-	9	1503	c.1029G>T	c.(1027-1029)ttG>ttT	p.L343F	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	343					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ACATGTTTTTCAAATATTCCA	0.557																																						ENST00000355265.2		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1027-1029)ttG>ttT		Kell blood group, metallo-endopeptidase							222.0	222.0	222.0					7																	142650939		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142650939C>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1029G>T	7.37:g.142650939C>A	ENSP00000347409:p.Leu343Phe	True	False		Somatic	0				KEL_ENST00000479768.2_5'UTR	p.L343F	NM_000420.2	NP_000411.1	WXS	Illumina HiSeq	Phase_I	P23276	KELL_HUMAN			9	1503	-	Melanoma(164;0.059)		343					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1029G>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963308	0.53507	.	.	ENSG00000197993	ENST00000355265	T	0.76186	-1.0	5.78	2.87	0.33458	Peptidase M13 (1);	0.646012	0.13373	N	0.392767	T	0.78509	0.4294	M	0.79258	2.445	0.33148	D	0.545267	P	0.47841	0.901	P	0.53401	0.725	T	0.78868	-0.2034	10	0.31617	T	0.26	-8.148	5.8491	0.18683	0.1578:0.6713:0.0:0.1709	.	343	P23276	KELL_HUMAN	F	343	ENSP00000347409:L343F	ENSP00000347409:L343F	L	-	3	2	KEL	142361061	1.000000	0.71417	0.995000	0.50966	0.900000	0.52787	1.388000	0.34442	1.469000	0.48083	0.478000	0.44815	TTG		0.557	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	0	NM_000420		7:142650939
CLK4	57396	broad.mit.edu	37	5	178039804	178039804	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:178039804G>T	ENST00000316308.4	-	8	1082	c.914C>A	c.(913-915)tCt>tAt	p.S305Y		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	305	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TACCATTTTAGAATTATATTT	0.289																																						ENST00000316308.4		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21						c.(913-915)tCt>tAt		CDC-like kinase 4							52.0	60.0	57.0					5																	178039804		2193	4285	6478	SO:0001583	missense	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178039804G>T	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.914C>A	5.37:g.178039804G>T	ENSP00000316948:p.Ser305Tyr	False	False		Somatic	0					p.S305Y	NM_020666.2	NP_065717.1	WXS	Illumina HiSeq	Phase_I	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	8	1082	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	305			Protein kinase.			Missense_Mutation	SNP	ENST00000316308.4	37	c.914C>A	CCDS4437.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125826	0.37533	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.69926	-0.44	5.62	5.62	0.85841	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.354081	0.33691	N	0.004656	T	0.59211	0.2177	N	0.17872	0.535	0.80722	D	1	P;P;P	0.51791	0.948;0.469;0.469	P;B;B	0.51229	0.663;0.299;0.299	T	0.56105	-0.8034	10	0.27082	T	0.32	.	12.1521	0.54055	0.0:0.0:0.829:0.171	.	305;305;305	B7ZL31;B9EG64;Q9HAZ1	.;.;CLK4_HUMAN	Y	305	ENSP00000316948:S305Y	ENSP00000316948:S305Y	S	-	2	0	CLK4	177972410	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.328000	0.59253	2.637000	0.89404	0.650000	0.86243	TCT		0.289	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2	0			5:178039804
EGF	1950	broad.mit.edu	37	4	110885582	110885582	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:110885582C>A	ENST00000265171.5	+	10	1909	c.1464C>A	c.(1462-1464)gcC>gcA	p.A488A	EGF_ENST00000503392.1_Silent_p.A488A|EGF_ENST00000509793.1_Silent_p.A446A	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	488					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	TGCTGTTTGCCAATTCTCAAG	0.418																																						ENST00000265171.5		NA																	0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1462-1464)gcC>gcA		epidermal growth factor	Sulindac(DB00605)						208.0	191.0	197.0					4																	110885582		2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110885582C>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1464C>A	4.37:g.110885582C>A		False	False		Somatic	0				EGF_ENST00000503392.1_Silent_p.A488A|EGF_ENST00000509793.1_Silent_p.A446A	p.A488A	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	WXS	Illumina HiSeq	Phase_I	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	10	1909	+		Hepatocellular(203;0.0893)	488					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.1464C>A	CCDS3689.1																																																																																				0.418	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1	0			4:110885582
TACC2	10579	broad.mit.edu	37	10	123976332	123976332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:123976332C>A	ENST00000369005.1	+	11	7875	c.7535C>A	c.(7534-7536)tCa>tAa	p.S2512*	TACC2_ENST00000358010.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000368999.1_Nonsense_Mutation_p.S602*|TACC2_ENST00000513429.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000369001.1_Nonsense_Mutation_p.S216*|TACC2_ENST00000360561.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000260733.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000369000.1_Nonsense_Mutation_p.S212*|TACC2_ENST00000515273.1_Nonsense_Mutation_p.S2516*|TACC2_ENST00000453444.2_Nonsense_Mutation_p.S2516*|TACC2_ENST00000369004.3_Nonsense_Mutation_p.S602*|TACC2_ENST00000515603.1_Nonsense_Mutation_p.S2467*|TACC2_ENST00000334433.3_Nonsense_Mutation_p.S2512*	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2512					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAATTCAGTTCACCCACTGAG	0.562																																						ENST00000369005.1		NA																	0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(7534-7536)tCa>tAa		transforming, acidic coiled-coil containing protein 2							133.0	112.0	119.0					10																	123976332		2203	4300	6503	SO:0001587	stop_gained	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123976332C>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.7535C>A	10.37:g.123976332C>A	ENSP00000358001:p.Ser2512*	False	False		Somatic	0				TACC2_ENST00000369001.1_Nonsense_Mutation_p.S216*|TACC2_ENST00000360561.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000369004.3_Nonsense_Mutation_p.S602*|TACC2_ENST00000513429.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000453444.2_Nonsense_Mutation_p.S2516*|TACC2_ENST00000334433.3_Nonsense_Mutation_p.S2512*|TACC2_ENST00000369000.1_Nonsense_Mutation_p.S212*|TACC2_ENST00000515273.1_Nonsense_Mutation_p.S2516*|TACC2_ENST00000368999.1_Nonsense_Mutation_p.S602*|TACC2_ENST00000260733.3_Nonsense_Mutation_p.S590*|TACC2_ENST00000358010.1_Nonsense_Mutation_p.S658*|TACC2_ENST00000515603.1_Nonsense_Mutation_p.S2467*	p.S2512*	NM_206862.2	NP_996744.2	WXS	Illumina HiSeq	Phase_I	O95359	TACC2_HUMAN			11	7875	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2512					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Nonsense_Mutation	SNP	ENST00000369005.1	37	c.7535C>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	41	8.660008	0.98903	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000369001;ENST00000369000;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913;ENST00000508411	.	.	.	5.64	5.64	0.86602	.	0.000000	0.30356	N	0.009802	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0877	19.7186	0.96134	0.0:1.0:0.0:0.0	.	.	.	.	X	2512;658;2516;2467;2512;658;2516;2502;216;212;590;602;602;590;607;247;92	.	ENSP00000260733:S590X	S	+	2	0	TACC2	123966322	1.000000	0.71417	0.273000	0.24645	0.801000	0.45260	4.972000	0.63756	2.659000	0.90383	0.655000	0.94253	TCA		0.562	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	0			10:123976332
ZNF616	90317	broad.mit.edu	37	19	52618196	52618196	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:52618196C>A	ENST00000600228.1	-	4	2482	c.2221G>T	c.(2221-2223)Ggc>Tgc	p.G741C	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	741					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)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		GGTTTTTTGCCAGAATGAATT	0.403																																						ENST00000600228.1		NA																	0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(2221-2223)Ggc>Tgc		zinc finger protein 616							119.0	122.0	121.0					19																	52618196		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618196C>A	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2221G>T	19.37:g.52618196C>A	ENSP00000471000:p.Gly741Cys	False	False		Somatic	0				ZNF616_ENST00000330123.5_3'UTR	p.G741C	NM_178523.3	NP_848618.2	WXS	Illumina HiSeq	Phase_I	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	2482	-			741					B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.2221G>T	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345951	0.41599	.	.	ENSG00000204611	ENST00000330123	.	.	.	2.04	2.04	0.26737	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.76644	0.4016	M	0.93241	3.395	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63950	-0.6521	8	0.72032	D	0.01	.	9.6957	0.40156	0.0:1.0:0.0:0.0	.	741	Q08AN1	ZN616_HUMAN	C	741	.	ENSP00000328722:G741C	G	-	1	0	ZNF616	57310008	0.000000	0.05858	0.008000	0.14137	0.172000	0.22775	-0.321000	0.08018	1.116000	0.41820	0.484000	0.47621	GGC		0.403	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	0	XM_030892		19:52618196
ZNF462	58499	broad.mit.edu	37	9	109688806	109688806	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:109688806C>A	ENST00000277225.5	+	3	2902	c.2613C>A	c.(2611-2613)ttC>ttA	p.F871L	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Missense_Mutation_p.F871L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	871					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACATTAAATTCAGCTTTAGGT	0.443																																						ENST00000277225.5		NA																	0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(2611-2613)ttC>ttA		zinc finger protein 462							169.0	151.0	157.0					9																	109688806		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109688806C>A	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2613C>A	9.37:g.109688806C>A	ENSP00000277225:p.Phe871Leu	False	False		Somatic	0				ZNF462_ENST00000457913.1_Missense_Mutation_p.F871L	p.F871L			WXS	Illumina HiSeq	Phase_I	Q96JM2	ZN462_HUMAN			3	2902	+			871					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.2613C>A	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.443804	0.63067	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	T;T	0.11385	2.78;3.18	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.14356	0.0347	N	0.08118	0	0.80722	D	1	D;D	0.63880	0.992;0.993	D;D	0.74674	0.984;0.956	T	0.33445	-0.9868	9	.	.	.	.	13.2624	0.60113	0.0:0.9279:0.0:0.072	.	871;871	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	871	ENSP00000277225:F871L;ENSP00000414570:F871L	.	F	+	3	2	ZNF462	108728627	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.499000	0.35671	2.731000	0.93534	0.650000	0.86243	TTC		0.443	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	0	NM_021224		9:109688806
PTPRG	5793	broad.mit.edu	37	3	62268492	62268492	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:62268492G>A	ENST00000474889.1	+	28	4380	c.4003G>A	c.(4003-4005)Gtc>Atc	p.V1335I	PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.V1306I|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1335	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		ACTTATCAACGTCATCAAGGA	0.398																																						ENST00000474889.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(4003-4005)Gtc>Atc		protein tyrosine phosphatase, receptor type, G							175.0	157.0	163.0					3																	62268492		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62268492G>A	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.4003G>A	3.37:g.62268492G>A	ENSP00000418112:p.Val1335Ile	False	False		Somatic	0				PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.V1306I	p.V1335I	NM_002841.3	NP_002832.3	WXS	Illumina HiSeq	Phase_I	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	28	4380	+			1335			Tyrosine-protein phosphatase 2.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.4003G>A	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036448	0.35893	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.83250	-1.7;-1.7	5.38	5.38	0.77491	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.121307	0.56097	D	0.000033	T	0.56688	0.2002	N	0.00991	-1.07	0.58432	D	0.999999	B;P;B	0.39940	0.029;0.696;0.382	B;B;B	0.30401	0.011;0.115;0.036	T	0.65717	-0.6100	10	0.13853	T	0.58	.	19.3366	0.94322	0.0:0.0:1.0:0.0	.	581;1306;1335	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	I	1335;1306	ENSP00000418112:V1335I;ENSP00000295874:V1306I	ENSP00000295874:V1306I	V	+	1	0	PTPRG	62243532	1.000000	0.71417	0.990000	0.47175	0.983000	0.72400	6.473000	0.73572	2.799000	0.96334	0.650000	0.86243	GTC		0.398	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	0	NM_002841		3:62268492
MGAT3	4248	broad.mit.edu	37	22	39884489	39884489	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:39884489C>T	ENST00000341184.6	+	2	1352	c.1137C>T	c.(1135-1137)atC>atT	p.I379I		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	379					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TGGACGGCATCCGCCTGCGCC	0.647																																						ENST00000341184.6		NA																	0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(1135-1137)atC>atT		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							41.0	44.0	43.0					22																	39884489		2203	4299	6502	SO:0001819	synonymous_variant	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884489C>T	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1137C>T	22.37:g.39884489C>T		False	False		Somatic	0					p.I379I	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	WXS	Illumina HiSeq	Phase_I	Q09327	MGAT3_HUMAN			2	1352	+	Melanoma(58;0.04)		379					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	c.1137C>T	CCDS13994.2																																																																																				0.647	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	0	NM_002409		22:39884489
SPTY2D1	144108	broad.mit.edu	37	11	18636809	18636809	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:18636809C>A	ENST00000336349.5	-	3	1247	c.1012G>T	c.(1012-1014)Gag>Tag	p.E338*	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	338	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						GCTTTGTGCTCAACAGCAGAT	0.512																																						ENST00000336349.5		NA																	0				breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						c.(1012-1014)Gag>Tag		SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)							117.0	130.0	126.0					11																	18636809		2199	4293	6492	SO:0001587	stop_gained	144108							g.chr11:18636809C>A	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.1012G>T	11.37:g.18636809C>A	ENSP00000337991:p.Glu338*	False	False		Somatic	0					p.E338*	NM_194285.2	NP_919261.2	WXS	Illumina HiSeq	Phase_I	Q68D10	SPT2_HUMAN			3	1247	-			338			Ser-rich.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Nonsense_Mutation	SNP	ENST00000336349.5	37	c.1012G>T	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	C	34	5.326405	0.95708	.	.	ENSG00000179119	ENST00000336349	.	.	.	5.84	5.84	0.93424	.	0.272640	0.36815	N	0.002396	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-18.4727	18.3021	0.90167	0.0:1.0:0.0:0.0	.	.	.	.	X	338	.	ENSP00000337991:E338X	E	-	1	0	SPTY2D1	18593385	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	2.734000	0.47368	2.762000	0.94881	0.563000	0.77884	GAG		0.512	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	0	NM_194285		11:18636809
SYCP3	50511	broad.mit.edu	37	12	102128736	102128736	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:102128736C>A	ENST00000392927.3	-	5	453	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	SYCP3_ENST00000392924.1_Nonsense_Mutation_p.E108*|SYCP3_ENST00000266743.2_Nonsense_Mutation_p.E108*	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	108	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CAAACATGTTCAATTTTCTGG	0.318																																						ENST00000392927.3		NA																	0				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						c.(322-324)Gaa>Taa		synaptonemal complex protein 3							114.0	110.0	112.0					12																	102128736		2201	4299	6500	SO:0001587	stop_gained	50511				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	g.chr12:102128736C>A	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.322G>T	12.37:g.102128736C>A	ENSP00000376658:p.Glu108*	False	False		Somatic	0				SYCP3_ENST00000266743.2_Nonsense_Mutation_p.E108*|SYCP3_ENST00000392924.1_Nonsense_Mutation_p.E108*	p.E108*	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	WXS	Illumina HiSeq	Phase_I	Q8IZU3	SYCP3_HUMAN			5	453	-			108			Gln-rich.			Nonsense_Mutation	SNP	ENST00000392927.3	37	c.322G>T	CCDS9087.1	.	.	.	.	.	.	.	.	.	.	C	36	5.657794	0.96734	.	.	ENSG00000139351	ENST00000266743;ENST00000392927;ENST00000392924	.	.	.	5.68	5.68	0.88126	.	0.114913	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-8.5012	19.7942	0.96472	0.0:1.0:0.0:0.0	.	.	.	.	X	108	.	ENSP00000266743:E108X	E	-	1	0	SYCP3	100652867	1.000000	0.71417	0.888000	0.34837	0.895000	0.52256	6.763000	0.74955	2.684000	0.91462	0.313000	0.20887	GAA		0.318	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	0	NM_153694		12:102128736
MLLT4	4301	broad.mit.edu	37	6	168226889	168226889	+	5'Flank	SNP	G	G	A	rs550884620		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:168226889G>A	ENST00000447894.2	+	0	0				MLLT4_ENST00000392108.3_5'Flank|MLLT4_ENST00000344191.4_5'Flank|MLLT4_ENST00000366806.2_5'Flank|MLLT4_ENST00000351017.4_5'Flank|MLLT4-AS1_ENST00000359760.5_RNA|MLLT4_ENST00000392112.1_5'Flank|MLLT4_ENST00000400822.3_5'Flank			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4						adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ACCCGGACCCGCCAGTCCGGA	0.687			T	MLL	AL																																	ENST00000359760.5		NA		Dom	yes		6	6q27	4301		"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L					0					NA															65.0	89.0	81.0					6																	168226889		1964	4108	6072	SO:0001631	upstream_gene_variant	0							g.chr6:168226889G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031		6.37:g.168226889G>A	Exception_encountered	True	False		Somatic	0						NR_027906.1		WXS	Illumina HiSeq	Phase_I					0	500	-			NA					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	RNA	SNP	ENST00000447894.2	37																																																																																						0.687	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	0	NM_005936		6:168226889
FLNC	2318	broad.mit.edu	37	7	128491395	128491395	+	Silent	SNP	C	C	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:128491395C>G	ENST00000325888.8	+	34	5910	c.5649C>G	c.(5647-5649)gtC>gtG	p.V1883V	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.V1850V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1883					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCACTATTGTCACCAAAGATG	0.587																																						ENST00000325888.8		NA																	0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(5647-5649)gtC>gtG		filamin C, gamma							55.0	59.0	57.0					7																	128491395		2141	4263	6404	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128491395C>G	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5649C>G	7.37:g.128491395C>G		False	False		Somatic	0				RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.V1850V	p.V1883V	NM_001458.4	NP_001449.3	WXS	Illumina HiSeq	Phase_I	Q14315	FLNC_HUMAN			34	5910	+			1883					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.5649C>G	CCDS43644.1																																																																																				0.587	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3	0			7:128491395
LRP1B	53353	broad.mit.edu	37	2	141747122	141747122	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:141747122C>A	ENST00000389484.3	-	17	3720	c.2749G>T	c.(2749-2751)Gaa>Taa	p.E917*	Y_RNA_ENST00000365022.1_RNA	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	917	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATTGGATTCATCTTCATTG	0.388										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3		NA																	0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(2749-2751)Gaa>Taa		low density lipoprotein receptor-related protein 1B							134.0	127.0	129.0					2																	141747122		2203	4300	6503	SO:0001587	stop_gained	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141747122C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2749G>T	2.37:g.141747122C>A	ENSP00000374135:p.Glu917*	False	False	TSP Lung(27;0.18)	Somatic	0					p.E917*	NM_018557.2	NP_061027.2	WXS	Illumina HiSeq	Phase_I	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	17	3720	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	917			LDL-receptor class A 4.		Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	c.2749G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	50	16.335596	0.99861	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	.	.	.	X	917;855	.	ENSP00000374135:E917X	E	-	1	0	LRP1B	141463592	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.727000	0.84838	2.840000	0.97914	0.655000	0.94253	GAA		0.388	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	NM_018557		2:141747122
BTBD7	55727	broad.mit.edu	37	14	93761126	93761126	+	Silent	SNP	G	G	T	rs146080654		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:93761126G>T	ENST00000334746.5	-	3	547	c.240C>A	c.(238-240)gcC>gcA	p.A80A	BTBD7_ENST00000298896.3_Silent_p.A80A|BTBD7_ENST00000555525.1_Silent_p.A80A|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000393170.2_5'Flank	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	80					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGGCATGATCGGCAGACCTAT	0.448																																						ENST00000334746.5		NA																	0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(238-240)gcC>gcA		BTB (POZ) domain containing 7							138.0	141.0	140.0					14																	93761126		2203	4300	6503	SO:0001819	synonymous_variant	55727							g.chr14:93761126G>T	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.240C>A	14.37:g.93761126G>T		False	False		Somatic	0				BTBD7_ENST00000555525.1_Silent_p.A80A|BTBD7_ENST00000298896.3_Silent_p.A80A|BTBD7_ENST00000554565.1_Intron	p.A80A	NM_001002860.2	NP_001002860.2	WXS	Illumina HiSeq	Phase_I	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	3	547	-		all_cancers(154;0.08)	80					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	37	c.240C>A	CCDS32146.1																																																																																				0.448	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	0	NM_001002860		14:93761126
ADD3	120	broad.mit.edu	37	10	111885676	111885676	+	Silent	SNP	G	G	T	rs138443686		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:111885676G>T	ENST00000356080.4	+	11	1861	c.1494G>T	c.(1492-1494)ccG>ccT	p.P498P	ADD3_ENST00000277900.8_Silent_p.P498P|ADD3_ENST00000360162.3_Silent_p.P498P	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	498						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ACACAAACCCGAATGAGGTAC	0.358																																						ENST00000277900.8		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29						c.(1492-1494)ccG>ccT		adducin 3 (gamma)							95.0	97.0	96.0					10																	111885676		2203	4300	6503	SO:0001819	synonymous_variant	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111885676G>T	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.1494G>T	10.37:g.111885676G>T		True	False		Somatic	0				ADD3_ENST00000356080.4_Silent_p.P498P|ADD3_ENST00000360162.3_Silent_p.P498P	p.P498P	NM_001121.2	NP_001112.2	WXS	Illumina HiSeq	Phase_I	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	11	1859	+		Breast(234;0.052)|Lung NSC(174;0.223)	498					D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Silent	SNP	ENST00000356080.4	37	c.1494G>T	CCDS7561.1																																																																																				0.358	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	0	NM_019903		10:111885676
SEC23B	10483	broad.mit.edu	37	20	18492924	18492924	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:18492924C>A	ENST00000336714.3	+	3	709	c.277C>A	c.(277-279)Cag>Aag	p.Q93K	SEC23B_ENST00000377465.1_Missense_Mutation_p.Q93K|SEC23B_ENST00000262544.2_Missense_Mutation_p.Q93K|SEC23B_ENST00000494645.1_3'UTR|SEC23B_ENST00000377475.3_Missense_Mutation_p.Q93K	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	93					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TCAAAGAAATCAGGTATGTGa	0.269																																						ENST00000336714.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						c.(277-279)Cag>Aag		Sec23 homolog B (S. cerevisiae)							25.0	27.0	26.0					20																	18492924		2198	4276	6474	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18492924C>A	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.277C>A	20.37:g.18492924C>A	ENSP00000338844:p.Gln93Lys	False	False		Somatic	0				SEC23B_ENST00000377465.1_Missense_Mutation_p.Q93K|SEC23B_ENST00000494645.1_3'UTR|SEC23B_ENST00000262544.2_Missense_Mutation_p.Q93K|SEC23B_ENST00000377475.3_Missense_Mutation_p.Q93K	p.Q93K	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	WXS	Illumina HiSeq	Phase_I	Q15437	SC23B_HUMAN			3	709	+			93					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.277C>A	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058618	0.55325	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02	5.33	5.33	0.75918	Zinc finger, Sec23/Sec24-type (2);	0.180852	0.49305	D	0.000141	T	0.70996	0.3288	L	0.31664	0.95	0.44424	D	0.997344	B;B	0.23990	0.095;0.023	B;B	0.29440	0.102;0.102	T	0.65857	-0.6066	10	0.36615	T	0.2	-14.7116	18.1847	0.89789	0.0:1.0:0.0:0.0	.	93;93	B4DJW8;Q15437	.;SC23B_HUMAN	K	93	ENSP00000403971:Q93K;ENSP00000338844:Q93K;ENSP00000262544:Q93K;ENSP00000366695:Q93K;ENSP00000366685:Q93K	ENSP00000262544:Q93K	Q	+	1	0	SEC23B	18440924	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.783000	0.68982	2.768000	0.95171	0.655000	0.94253	CAG		0.269	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5	0			20:18492924
ARHGEF5	7984	broad.mit.edu	37	7	144060770	144060770	+	Silent	SNP	T	T	C	rs141931104		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:144060770T>C	ENST00000056217.5	+	2	1182	c.1008T>C	c.(1006-1008)aaT>aaC	p.N336N	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	336					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.N336N(5)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CAGAAGAGAATAGGGCGGACT	0.512																																						ENST00000056217.5		NA																	5	Substitution - coding silent(5)	p.N336N(5)	endometrium(2)|lung(1)|prostate(1)|kidney(1)	breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(1006-1008)aaT>aaC		Rho guanine nucleotide exchange factor (GEF) 5		T		4,4184		0,4,2090	143.0	127.0	132.0		1008	-7.7	0.0	7	dbSNP_134	132	12,8044		0,12,4016	no	coding-synonymous	ARHGEF5	NM_005435.3		0,16,6106	CC,CT,TT		0.149,0.0955,0.1307		336/1598	144060770	16,12228	2094	4028	6122	SO:0001819	synonymous_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060770T>C	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1008T>C	7.37:g.144060770T>C		False	False		Somatic	0					p.N336N	NM_005435.3	NP_005426.2	WXS	Illumina HiSeq	Phase_I	Q12774	ARHG5_HUMAN			2	1182	+	Melanoma(164;0.14)		336					A6NNJ2|Q6ZML7	Silent	SNP	ENST00000056217.5	37	c.1008T>C	CCDS34771.1																																																																																				0.512	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	0	NM_005435		7:144060770
SPO11	23626	broad.mit.edu	37	20	55906923	55906923	+	Missense_Mutation	SNP	C	C	A	rs200007444		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:55906923C>A	ENST00000371263.3	+	2	275	c.166C>A	c.(166-168)Caa>Aaa	p.Q56K	SPO11_ENST00000345868.4_Intron|SPO11_ENST00000371260.4_Intron	NM_012444.2	NP_036576.1	Q9Y5K1	SPO11_HUMAN	SPO11 meiotic protein covalently bound to DSB	56					DNA catabolic process, endonucleolytic (GO:0000737)|female gamete generation (GO:0007292)|male meiosis I (GO:0007141)|ovarian follicle development (GO:0001541)|protein localization to chromosome (GO:0034502)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|hydrolase activity (GO:0016787)			autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			AAATATTATCCAAGACATAAT	0.323								Editing and processing nucleases																														ENST00000371263.3		NA																	0				autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18						c.(166-168)Caa>Aaa	Editing and processing nucleases	SPO11 meiotic protein covalently bound to DSB							131.0	142.0	138.0					20																	55906923		2203	4300	6503	SO:0001583	missense	23626				female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	g.chr20:55906923C>A	AF169385	CCDS13456.1, CCDS13457.1	20q13.31	2013-06-05	2013-06-05		ENSG00000054796	ENSG00000054796			11250	protein-coding gene	gene with protein product	"""cancer/testis antigen 35"", ""spermatogenesis associated 43"""	605114	"""SPO11, meiotic protein covalently bound to DSB (S. cerevisiae)-like"", ""SPO11 meiotic protein covalently bound to DSB-like (S. cerevisiae)"", ""SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae)"""			10534401	Standard	NM_012444		Approved	CT35, SPATA43, TOPVIA	uc002xye.3	Q9Y5K1	OTTHUMG00000032817	ENST00000371263.3:c.166C>A	20.37:g.55906923C>A	ENSP00000360310:p.Gln56Lys	False	False		Somatic	0				SPO11_ENST00000371260.4_Intron|SPO11_ENST00000345868.4_Intron	p.Q56K	NM_012444.2	NP_036576.1	WXS	Illumina HiSeq	Phase_I	Q9Y5K1	SPO11_HUMAN	BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)		2	275	+	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		56					Q5TCI1|Q8N4V0|Q9NQM7|Q9NQM8	Missense_Mutation	SNP	ENST00000371263.3	37	c.166C>A	CCDS13456.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.602589	0.28534	.	.	ENSG00000054796	ENST00000371263;ENST00000418127	T;T	0.16196	2.36;2.36	5.42	4.46	0.54185	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.351271	0.29417	N	0.012207	T	0.15565	0.0375	L	0.54323	1.7	0.21933	N	0.99947	B	0.20887	0.049	B	0.14023	0.01	T	0.33317	-0.9873	10	0.06236	T	0.91	-7.2948	14.2671	0.66126	0.0:0.7184:0.2816:0.0	.	56	Q9Y5K1	SPO11_HUMAN	K	56;34	ENSP00000360310:Q56K;ENSP00000413185:Q34K	ENSP00000360310:Q56K	Q	+	1	0	SPO11	55340330	0.607000	0.26958	0.534000	0.28014	0.756000	0.42949	1.495000	0.35627	1.390000	0.46547	0.585000	0.79938	CAA		0.323	SPO11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079836.2	0	NM_012444		20:55906923
CTCFL	140690	broad.mit.edu	37	20	56094287	56094287	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:56094287G>A	ENST00000608263.1	-	3	1562	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	CTCFL_ENST00000539382.1_Missense_Mutation_p.R96W|CTCFL_ENST00000243914.3_Missense_Mutation_p.R301W|CTCFL_ENST00000608903.1_Missense_Mutation_p.R39W|CTCFL_ENST00000371196.2_Missense_Mutation_p.R301W|CTCFL_ENST00000429804.3_Missense_Mutation_p.R301W|CTCFL_ENST00000481655.2_Missense_Mutation_p.R301W|CTCFL_ENST00000422869.2_Missense_Mutation_p.R301W|CTCFL_ENST00000608158.1_Missense_Mutation_p.R301W|CTCFL_ENST00000423479.3_Missense_Mutation_p.R301W|CTCFL_ENST00000433949.3_Missense_Mutation_p.R96W|CTCFL_ENST00000608425.1_Missense_Mutation_p.R301W|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000609232.1_Missense_Mutation_p.R301W|CTCFL_ENST00000502686.2_Missense_Mutation_p.R39W|CTCFL_ENST00000608440.1_Missense_Mutation_p.R301W|CTCFL_ENST00000432255.2_Missense_Mutation_p.R301W	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	301					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ACATGGTTCCGCAGCAGAGTG	0.453																																						ENST00000426658.2		NA																	0				NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(901-903)Cgg>Tgg		CCCTC-binding factor (zinc finger protein)-like							95.0	95.0	95.0					20																	56094287		2203	4300	6503	SO:0001583	missense	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56094287G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.901C>T	20.37:g.56094287G>A	ENSP00000476783:p.Arg301Trp	False	False		Somatic	0				CTCFL_ENST00000432255.2_Missense_Mutation_p.R301W|CTCFL_ENST00000371196.2_Missense_Mutation_p.R301W|CTCFL_ENST00000433949.2_Missense_Mutation_p.R301W|CTCFL_ENST00000429804.2_Missense_Mutation_p.R301W|CTCFL_ENST00000423479.2_Missense_Mutation_p.R301W|CTCFL_ENST00000422869.2_Missense_Mutation_p.R301W|CTCFL_ENST00000243914.3_Missense_Mutation_p.R301W|CTCFL_ENST00000539382.1_Missense_Mutation_p.R96W|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000502686.2_Missense_Mutation_p.R39W|CTCFL_ENST00000422109.2_Missense_Mutation_p.R301W	p.R301W			WXS	Illumina HiSeq	Phase_I	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		3	1562	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		301					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	ENST00000608263.1	37	c.901C>T	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.238725	0.39598	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11;3.11	5.25	0.582	0.17412	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40554	N	0.001079	T	0.25531	0.0621	M	0.69523	2.12	0.38434	D	0.946527	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.995;1.0;1.0;1.0;1.0;1.0	T	0.10847	-1.0612	10	0.72032	D	0.01	-42.7671	14.3281	0.66534	0.0:0.0:0.3805:0.6195	.	301;301;301;301;301;301;301;301	A6XGM3;A6XGM0;A6XGM9;A6XGM8;A6XGM2;E7EUE3;A6XGL8;Q8NI51	.;.;.;.;.;.;.;CTCFL_HUMAN	W	301;301;301;301;301;39;301;301;301;96;301	ENSP00000415579:R301W;ENSP00000243914:R301W;ENSP00000360239:R301W;ENSP00000415329:R301W;ENSP00000392034:R301W;ENSP00000437999:R39W;ENSP00000413713:R301W;ENSP00000403369:R301W;ENSP00000409344:R301W;ENSP00000439998:R96W;ENSP00000399061:R301W	ENSP00000243914:R301W	R	-	1	2	CTCFL	55527693	0.611000	0.26992	0.073000	0.20177	0.072000	0.16883	0.855000	0.27805	0.255000	0.21593	-0.293000	0.09583	CGG		0.453	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	0	NM_080618		20:56094287
C21orf59	56683	broad.mit.edu	37	21	33982250	33982250	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr21:33982250G>T	ENST00000290155.3	-	2	827	c.205C>A	c.(205-207)Cag>Aag	p.Q69K	AP000275.65_ENST00000553001.1_Missense_Mutation_p.Q69K|C21orf59_ENST00000382549.4_Missense_Mutation_p.Q69K|C21orf59_ENST00000540881.1_Intron	NM_021254.2	NP_067077.1	P57076	CU059_HUMAN	chromosome 21 open reading frame 59	69						cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						TCTTCAATCTGATCATCGGTC	0.393																																						ENST00000382549.4		NA																	0				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						c.(205-207)Cag>Aag		chromosome 21 open reading frame 59							131.0	116.0	121.0					21																	33982250		2203	4300	6503	SO:0001583	missense	56683					cytosol|nucleus		g.chr21:33982250G>T	AF282851	CCDS13617.1	21q22.11	2014-02-03	2003-07-22		ENSG00000159079	ENSG00000159079			1301	protein-coding gene	gene with protein product		615494	"""chromosome 21 open reading frame 48"""	C21orf48		24094744	Standard	NM_021254		Approved	FLJ20467, FBB18, CILD26	uc002yqc.3	P57076	OTTHUMG00000179510	ENST00000290155.3:c.205C>A	21.37:g.33982250G>T	ENSP00000290155:p.Gln69Lys	False	False		Somatic	0				C21ORF59_ENST00000607686.1_Missense_Mutation_p.Q69K|C21orf59_ENST00000540881.1_Intron|C21orf59_ENST00000290155.3_Missense_Mutation_p.Q69K	p.Q69K			WXS	Illumina HiSeq	Phase_I	P57076	CU059_HUMAN			2	547	-			69					Q53FH0	Missense_Mutation	SNP	ENST00000290155.3	37	c.205C>A	CCDS13617.1	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930476	0.73327	.	.	ENSG00000159079	ENST00000553001;ENST00000440966;ENST00000382549;ENST00000290155;ENST00000543202;ENST00000458138	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.79476	0.4452	M	0.91872	3.25	0.80722	D	1	B;B;B;B	0.26081	0.141;0.043;0.007;0.012	B;B;B;B	0.29524	0.08;0.103;0.012;0.012	T	0.80569	-0.1324	9	0.59425	D	0.04	-21.6651	18.8173	0.92081	0.0:0.0:1.0:0.0	.	69;69;69;69	C9J818;P57076;D3DSE6;Q96NJ2	.;CU059_HUMAN;.;.	K	69;69;69;69;69;52	.	ENSP00000290155:Q69K	Q	-	1	0	C21orf59	32904121	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.536000	0.98067	2.746000	0.94184	0.655000	0.94253	CAG		0.393	C21orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139431.1	0	NM_021254		21:33982250
ZNF557	79230	broad.mit.edu	37	19	7082034	7082034	+	Silent	SNP	C	C	A	rs201136508		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:7082034C>A	ENST00000439035.2	+	7	616	c.376C>A	c.(376-378)Cga>Aga	p.R126R	ZNF557_ENST00000414706.1_Silent_p.R133R|ZNF557_ENST00000252840.6_Silent_p.R133R			Q8N988	ZN557_HUMAN	zinc finger protein 557	126					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(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GCATGTTTTTCGAAAAGAACA	0.348																																						ENST00000414706.1		NA																	0				endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17						c.(397-399)Cga>Aga		zinc finger protein 557							82.0	81.0	82.0					19																	7082034		1864	4136	6000	SO:0001819	synonymous_variant	79230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7082034C>A	AK095524	CCDS42485.1, CCDS45945.1	19p13.2	2013-09-20			ENSG00000130544	ENSG00000130544		"""Zinc fingers, C2H2-type"", ""-"""	28632	protein-coding gene	gene with protein product						12477932	Standard	NM_024341		Approved	MGC4054	uc002mgc.3	Q8N988	OTTHUMG00000181977	ENST00000439035.2:c.376C>A	19.37:g.7082034C>A		True	False		Somatic	0				ZNF557_ENST00000252840.6_Silent_p.R133R|ZNF557_ENST00000439035.2_Silent_p.R126R	p.R133R	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	WXS	Illumina HiSeq	Phase_I	Q8N988	ZN557_HUMAN		Lung(535;0.179)	7	870	+			126					Q6PEJ3|Q9BTZ1	Silent	SNP	ENST00000439035.2	37	c.397C>A	CCDS45945.1																																																																																				0.348	ZNF557-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458502.1	0	NM_024341		19:7082034
SYNJ1	8867	broad.mit.edu	37	21	34051075	34051075	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr21:34051075G>T	ENST00000322229.7	-	11	1389	c.1390C>A	c.(1390-1392)Cag>Aag	p.Q464K	SYNJ1_ENST00000382491.3_Missense_Mutation_p.Q467K|SYNJ1_ENST00000382499.2_Missense_Mutation_p.Q503K|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Q503K|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Q464K			O43426	SYNJ1_HUMAN	synaptojanin 1	464					cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AAGTTATTCTGAATTGTTCGG	0.378																																						ENST00000382499.2		NA																	0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(1507-1509)Cag>Aag		synaptojanin 1							94.0	92.0	93.0					21																	34051075		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34051075G>T	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.1390C>A	21.37:g.34051075G>T	ENSP00000322234:p.Gln464Lys	False	False		Somatic	0				SYNJ1_ENST00000382491.3_Missense_Mutation_p.Q467K|SYNJ1_ENST00000433931.2_Missense_Mutation_p.Q503K|SYNJ1_ENST00000322229.7_Missense_Mutation_p.Q464K|SYNJ1_ENST00000357345.3_Missense_Mutation_p.Q464K	p.Q503K	NM_203446.2	NP_982271.2	WXS	Illumina HiSeq	Phase_I	O43426	SYNJ1_HUMAN			12	1506	-			464			Catalytic (Potential).		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.1507C>A	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	G	35	5.482666	0.96307	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8	5.99	5.99	0.97316	.	0.118964	0.64402	D	0.000008	T	0.44705	0.1306	L	0.39020	1.185	0.80722	D	1	P;P;D;P;D	0.67145	0.64;0.719;0.994;0.739;0.996	B;B;P;P;D	0.72982	0.243;0.348;0.904;0.574;0.979	T	0.14755	-1.0461	10	0.54805	T	0.06	.	20.4777	0.99188	0.0:0.0:1.0:0.0	.	467;503;464;464;464	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	K	467;464;503;503;464;467	ENSP00000371931:Q467K;ENSP00000349903:Q464K;ENSP00000371939:Q503K;ENSP00000409667:Q503K;ENSP00000322234:Q464K;ENSP00000413649:Q467K	ENSP00000322234:Q464K	Q	-	1	0	SYNJ1	32972946	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.814000	0.99346	2.840000	0.97914	0.655000	0.94253	CAG		0.378	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0			21:34051075
RAP1B	5908	broad.mit.edu	37	12	69050210	69050210	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:69050210C>A	ENST00000250559.9	+	6	680	c.449C>A	c.(448-450)tCa>tAa	p.S150*	RAP1B_ENST00000540209.1_Nonsense_Mutation_p.S131*|RAP1B_ENST00000378985.3_Nonsense_Mutation_p.S84*|RAP1B_ENST00000541216.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000341355.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000450214.2_Nonsense_Mutation_p.S108*|RAP1B_ENST00000543393.1_Nonsense_Mutation_p.S84*|RAP1B_ENST00000393436.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000542145.1_Nonsense_Mutation_p.S103*|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000543697.1_Intron|RAP1B_ENST00000537460.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000539091.1_Nonsense_Mutation_p.S108*	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family	150					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TCTGCAAAATCAAAAATAAAT	0.338																																						ENST00000250559.9		NA																	0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12						c.(448-450)tCa>tAa		RAP1B, member of RAS oncogene family							126.0	132.0	130.0					12																	69050210		2202	4299	6501	SO:0001587	stop_gained	5908				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:69050210C>A		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.449C>A	12.37:g.69050210C>A	ENSP00000250559:p.Ser150*	True	False		Somatic	0				RAP1B_ENST00000378985.3_Nonsense_Mutation_p.S84*|RAP1B_ENST00000543697.1_Intron|RAP1B_ENST00000543393.1_Nonsense_Mutation_p.S84*|RAP1B_ENST00000541216.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000539091.1_Nonsense_Mutation_p.S108*|RAP1B_ENST00000341355.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000540209.1_Nonsense_Mutation_p.S131*|RAP1B_ENST00000393436.5_Nonsense_Mutation_p.S150*|RAP1B_ENST00000450214.2_Nonsense_Mutation_p.S108*|RAP1B_ENST00000463493.1_3'UTR|RAP1B_ENST00000537460.1_Nonsense_Mutation_p.S150*|RAP1B_ENST00000542145.1_Nonsense_Mutation_p.S103*	p.S150*	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	WXS	Illumina HiSeq	Phase_I	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	6	680	+	Breast(13;1.24e-05)		150					B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Nonsense_Mutation	SNP	ENST00000250559.9	37	c.449C>A	CCDS8984.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817521	0.90790	.	.	ENSG00000127314	ENST00000250559;ENST00000393436;ENST00000425247;ENST00000341355;ENST00000537460;ENST00000450214;ENST00000538980;ENST00000543393;ENST00000378985;ENST00000540209;ENST00000535492;ENST00000539091;ENST00000542145;ENST00000541216	.	.	.	5.6	5.6	0.85130	.	0.136637	0.48767	D	0.000161	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9958	0.97383	0.0:1.0:0.0:0.0	.	.	.	.	X	150;150;150;150;150;108;99;84;84;131;84;108;103;150	.	.	S	+	2	0	RAP1B	67336477	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.532000	0.60608	2.802000	0.96397	0.561000	0.74099	TCA		0.338	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	0	NM_001010942		12:69050210
PCDHA9	9752	broad.mit.edu	37	5	140228096	140228096	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:140228096C>T	ENST00000532602.1	+	1	1049	c.16C>T	c.(16-18)Cga>Tga	p.R6*	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000378122.3_Nonsense_Mutation_p.R6*|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	6					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATACTCAAGTCGAGGAGATCC	0.488																																					Melanoma(55;1800 1972 14909)	ENST00000378122.3		NA																	0				breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59						c.(16-18)Cga>Tga									84.0	87.0	86.0					5																	140228096		2197	4269	6466	SO:0001587	stop_gained	0							g.chr5:140228096C>T	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.16C>T	5.37:g.140228096C>T	ENSP00000436042:p.Arg6*	False	False		Somatic	0				PCDHA9_ENST00000532602.1_Nonsense_Mutation_p.R6*|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	p.R6*	NM_014005.3	NP_054724.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	740	+			NA					O15053|Q2M3S5	Nonsense_Mutation	SNP	ENST00000532602.1	37	c.16C>T	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	39	7.294141	0.98192	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	.	.	.	3.73	-0.921	0.10472	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4352	0.16478	0.4129:0.2254:0.3617:0.0	.	.	.	.	X	6	.	ENSP00000367362:R6X	R	+	1	2	PCDHA9	140208280	0.000000	0.05858	0.000000	0.03702	0.187000	0.23431	-0.372000	0.07504	-0.010000	0.14271	0.591000	0.81541	CGA		0.488	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	0	NM_031857		5:140228096
ANAPC1	64682	broad.mit.edu	37	2	112614406	112614406	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:112614406G>T	ENST00000341068.3	-	12	2188	c.1416C>A	c.(1414-1416)acC>acA	p.T472T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	472					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|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)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CTGGTATGTTGGTCACTGAAC	0.358																																						ENST00000341068.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(1414-1416)acC>acA		anaphase promoting complex subunit 1							91.0	85.0	87.0					2																	112614406		2203	4300	6503	SO:0001819	synonymous_variant	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|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|cytosol|nucleoplasm		g.chr2:112614406G>T	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1416C>A	2.37:g.112614406G>T		False	False		Somatic	0					p.T472T	NM_022662.3	NP_073153.1	WXS	Illumina HiSeq	Phase_I	Q9H1A4	APC1_HUMAN			12	2188	-			472					Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	ENST00000341068.3	37	c.1416C>A	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	G	3.478	-0.106555	0.06924	.	.	ENSG00000153107	ENST00000427997	.	.	.	4.09	1.16	0.20824	.	.	.	.	.	T	0.55784	0.1942	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48234	-0.9053	4	.	.	.	-12.8832	8.521	0.33275	0.3365:0.0:0.6635:0.0	.	.	.	.	K	7	.	.	Q	-	1	0	ANAPC1	112330877	1.000000	0.71417	0.949000	0.38748	0.426000	0.31534	2.431000	0.44775	0.305000	0.22832	-0.291000	0.09656	CAA		0.358	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	0	NM_022662		2:112614406
MCCC2	64087	broad.mit.edu	37	5	70931068	70931068	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:70931068C>A	ENST00000340941.6	+	10	1123	c.994C>A	c.(994-996)Cga>Aga	p.R332R	MCCC2_ENST00000323375.8_Silent_p.R294R|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000509358.2_Silent_p.R332R	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	332	Carboxyltransferase.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|coenzyme A metabolic process (GO:0015936)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CTTTGATGTCCGAGAGGTATG	0.393																																						ENST00000340941.6		NA																	0				endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30	GRCh37	CM053319	MCCC2	M		c.(994-996)Cga>Aga		methylcrotonoyl-CoA carboxylase 2 (beta)	Biotin(DB00121)						132.0	132.0	132.0					5																	70931068		2203	4300	6503	SO:0001819	synonymous_variant	64087				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity	g.chr5:70931068C>A	AF310971	CCDS34184.1	5q12-q13	2010-04-30	2010-04-30		ENSG00000131844	ENSG00000131844	6.4.1.4		6937	protein-coding gene	gene with protein product		609014	"""methylcrotonoyl-Coenzyme A carboxylase 2 (beta)"""				Standard	NM_022132		Approved	MCCB	uc003kbs.4	Q9HCC0	OTTHUMG00000162505	ENST00000340941.6:c.994C>A	5.37:g.70931068C>A		False	False		Somatic	0				MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000509358.2_Silent_p.R332R|MCCC2_ENST00000323375.8_Silent_p.R294R	p.R332R	NM_022132.4	NP_071415.1	WXS	Illumina HiSeq	Phase_I	Q9HCC0	MCCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	10	1123	+		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)	332			Carboxyltransferase.		A6NIY9|Q96C27|Q9Y4L7	Silent	SNP	ENST00000340941.6	37	c.994C>A	CCDS34184.1																																																																																				0.393	MCCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369243.4	0			5:70931068
RP1	6101	broad.mit.edu	37	8	55539537	55539537	+	Missense_Mutation	SNP	A	A	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:55539537A>G	ENST00000220676.1	+	4	3243	c.3095A>G	c.(3094-3096)aAt>aGt	p.N1032S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1032					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAGCTATTAATGATCATAAT	0.378																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1		NA																	0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(3094-3096)aAt>aGt		retinitis pigmentosa 1 (autosomal dominant)							158.0	173.0	168.0					8																	55539537		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55539537A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.3095A>G	8.37:g.55539537A>G	ENSP00000220676:p.Asn1032Ser	False	False		Somatic	0					p.N1032S	NM_006269.1	NP_006260.1	WXS	Illumina HiSeq	Phase_I	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	3243	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1032						Missense_Mutation	SNP	ENST00000220676.1	37	c.3095A>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	2.654	-0.281375	0.05642	.	.	ENSG00000104237	ENST00000220676	T	0.20881	2.04	5.32	1.41	0.22369	.	0.779574	0.11892	N	0.519542	T	0.08891	0.0220	N	0.04959	-0.14	0.09310	N	1	B	0.14805	0.011	B	0.15870	0.014	T	0.29150	-1.0021	10	0.41790	T	0.15	.	3.9076	0.09190	0.5898:0.0:0.2595:0.1508	.	1032	P56715	RP1_HUMAN	S	1032	ENSP00000220676:N1032S	ENSP00000220676:N1032S	N	+	2	0	RP1	55702090	0.000000	0.05858	0.006000	0.13384	0.072000	0.16883	-0.139000	0.10358	0.435000	0.26365	0.533000	0.62120	AAT		0.378	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	0	NM_006269		8:55539537
SNHG14	104472715	broad.mit.edu	37	15	25328776	25328776	+	RNA	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:25328776G>T	ENST00000546682.1	+	0	320				SNORD116-15_ENST00000384445.1_RNA|SNORD116-16_ENST00000384533.1_RNA|SNORD116-18_ENST00000383961.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA|SNORD116-19_ENST00000384729.1_RNA|SNORD116-17_ENST00000383929.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTGGAAAGCTGAACAAAATGA	0.418																																						ENST00000546682.1		NA																	0					NA															303.0	264.0	276.0					15																	25328776		876	1989	2865			0							g.chr15:25328776G>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25328776G>T		False	False		Somatic	0				SNHG14_ENST00000549804.2_RNA|SNORD116-17_ENST00000383929.1_RNA		NR_003361.1		WXS	Illumina HiSeq	Phase_I					0	320	+			NA						RNA	SNP	ENST00000546682.1	37																																																																																						0.418	SNHG14-022	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000408281.1	0			15:25328776
TGOLN2	10618	broad.mit.edu	37	2	85554478	85554478	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:85554478G>T	ENST00000409232.3	-	2	438	c.377C>A	c.(376-378)tCg>tAg	p.S126*	TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000377386.3_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000444342.2_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000398263.2_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000409015.1_Nonsense_Mutation_p.S126*			O43493	TGON2_HUMAN	trans-golgi network protein 2	126	14 X 14 AA tandem repeats.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CTCCGGATGCGACTTACTAGT	0.592																																						ENST00000377386.3		NA																	0					NA						c.(376-378)tCg>tAg		trans-golgi network protein 2							351.0	349.0	349.0					2																	85554478		1981	4151	6132	SO:0001587	stop_gained	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554478G>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.377C>A	2.37:g.85554478G>T	ENSP00000386443:p.Ser126*	False	False		Somatic	0				TGOLN2_ENST00000444342.2_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000409232.3_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Nonsense_Mutation_p.S126*|TGOLN2_ENST00000409015.1_Nonsense_Mutation_p.S126*	p.S126*			WXS	Illumina HiSeq	Phase_I	O43493	TGON2_HUMAN			2	839	-			126			14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Nonsense_Mutation	SNP	ENST00000409232.3	37	c.377C>A	CCDS56126.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273883	0.80580	.	.	ENSG00000152291	ENST00000377386;ENST00000398263;ENST00000409232;ENST00000409015;ENST00000444342	.	.	.	2.74	-2.83	0.05769	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7418	4.9072	0.13804	0.5492:0.1668:0.2841:0.0	.	.	.	.	X	126	.	ENSP00000366603:S126X	S	-	2	0	TGOLN2	85407989	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.923000	0.04000	-0.843000	0.04189	-0.579000	0.04138	TCG		0.592	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	0	NM_006464		2:85554478
EPB41	2035	broad.mit.edu	37	1	29359683	29359683	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:29359683C>A	ENST00000343067.4	+	9	1418	c.1291C>A	c.(1291-1293)Cgc>Agc	p.R431S	EPB41_ENST00000398863.2_Missense_Mutation_p.R431S|EPB41_ENST00000356093.2_Missense_Mutation_p.R431S|EPB41_ENST00000373798.1_Missense_Mutation_p.R431S|EPB41_ENST00000347529.3_Missense_Mutation_p.R396S|EPB41_ENST00000373797.1_Missense_Mutation_p.R431S|EPB41_ENST00000349460.4_Missense_Mutation_p.R222S|EPB41_ENST00000373800.3_Missense_Mutation_p.R222S	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	431	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GAGAATTAACCGCTTCCCTTG	0.408																																						ENST00000343067.4		NA																	0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(1291-1293)Cgc>Agc		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							115.0	112.0	113.0					1																	29359683		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29359683C>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1291C>A	1.37:g.29359683C>A	ENSP00000345259:p.Arg431Ser	False	False		Somatic	0				EPB41_ENST00000373800.3_Missense_Mutation_p.R222S|EPB41_ENST00000398863.2_Missense_Mutation_p.R431S|EPB41_ENST00000356093.2_Missense_Mutation_p.R431S|EPB41_ENST00000373797.1_Missense_Mutation_p.R431S|EPB41_ENST00000373798.1_Missense_Mutation_p.R431S|EPB41_ENST00000349460.4_Missense_Mutation_p.R222S|EPB41_ENST00000347529.3_Missense_Mutation_p.R396S	p.R431S	NM_001166005.1	NP_001159477.1	WXS	Illumina HiSeq	Phase_I	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	9	1418	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	431			FERM.		B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.1291C>A	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991544	0.93106	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	5.97	5.97	0.96955	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.88998	0.6590	L	0.39566	1.225	0.80722	D	1	D;P;D;D;D;D;D;D;D;D	0.89917	1.0;0.859;0.997;0.999;0.991;0.996;1.0;0.986;0.998;1.0	D;P;D;D;P;P;D;P;D;D	0.91635	0.99;0.765;0.932;0.984;0.83;0.888;0.999;0.895;0.984;0.999	D	0.89328	0.3645	10	0.87932	D	0	.	14.2724	0.66159	0.1486:0.8514:0.0:0.0	.	325;431;431;431;431;431;448;396;222;222	E9PEX0;E9PEW9;C9JTS2;P11171;P11171-2;P11171-7;Q59F12;P11171-5;P11171-4;P11171-3	.;.;.;41_HUMAN;.;.;.;.;.;.	S	448;431;431;431;325;431;222;222;396;431;431	ENSP00000345259:R431S;ENSP00000348397:R431S;ENSP00000381839:R431S;ENSP00000317597:R222S;ENSP00000362906:R222S;ENSP00000290100:R396S;ENSP00000362904:R431S;ENSP00000362903:R431S	ENSP00000345259:R431S	R	+	1	0	EPB41	29232270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.696000	0.61774	2.834000	0.97654	0.650000	0.86243	CGC		0.408	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	0	NM_203342		1:29359683
COL4A3BP	10087	broad.mit.edu	37	5	74754979	74754979	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:74754979C>A	ENST00000405807.4	-	3	680	c.259G>T	c.(259-261)Gat>Tat	p.D87Y	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.D87Y|COL4A3BP_ENST00000380494.5_Missense_Mutation_p.D215Y	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	87	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ACACTAATATCAAATCGACAT	0.378																																						ENST00000380494.5		NA																	0				breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16						c.(643-645)Gat>Tat		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							168.0	142.0	150.0					5																	74754979		2203	4300	6503	SO:0001583	missense	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74754979C>A	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.259G>T	5.37:g.74754979C>A	ENSP00000383996:p.Asp87Tyr	True	False		Somatic	0				COL4A3BP_ENST00000405807.4_Missense_Mutation_p.D87Y|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.D87Y	p.D215Y	NM_001130105.1	NP_001123577.1	WXS	Illumina HiSeq	Phase_I	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	4	936	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	87					A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	c.643G>T	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742024	0.89573	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.12465	2.68;2.68;2.68	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.37598	0.1009	M	0.62088	1.915	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.87578	0.998;0.996;0.998	T	0.09422	-1.0675	10	0.87932	D	0	-1.6075	18.6597	0.91468	0.0:1.0:0.0:0.0	.	87;215;87	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	Y	87;215;87	ENSP00000383996:D87Y;ENSP00000369862:D215Y;ENSP00000261415:D87Y	ENSP00000261415:D87Y	D	-	1	0	COL4A3BP	74790735	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.682000	0.84083	2.493000	0.84123	0.563000	0.77884	GAT		0.378	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	0	NM_005713		5:74754979
SH3TC2	79628	broad.mit.edu	37	5	148417924	148417924	+	Nonsense_Mutation	SNP	G	G	T	rs151205080		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:148417924G>T	ENST00000515425.1	-	8	1036	c.935C>A	c.(934-936)tCg>tAg	p.S312*	SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000394358.2_Nonsense_Mutation_p.S197*|SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Nonsense_Mutation_p.S305*	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	312	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACTTGTCGACTTTCCAAT	0.468																																						ENST00000515425.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(934-936)tCg>tAg		SH3 domain and tetratricopeptide repeats 2							197.0	187.0	190.0					5																	148417924		2203	4300	6503	SO:0001587	stop_gained	79628						binding	g.chr5:148417924G>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.935C>A	5.37:g.148417924G>T	ENSP00000423660:p.Ser312*	False	False		Somatic	0				SH3TC2_ENST00000394358.2_Nonsense_Mutation_p.S197*|SH3TC2_ENST00000512049.1_Nonsense_Mutation_p.S305*|SH3TC2_ENST00000538184.1_5'UTR	p.S312*	NM_024577.3	NP_078853.2	WXS	Illumina HiSeq	Phase_I	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		8	1036	-			312			SH3.		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Nonsense_Mutation	SNP	ENST00000515425.1	37	c.935C>A	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.768002	0.90020	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	.	.	.	4.88	3.99	0.46301	.	0.251785	0.30639	N	0.009183	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0496	0.53500	0.0875:0.0:0.9125:0.0	.	.	.	.	X	312;305;197	.	ENSP00000377886:S197X	S	-	2	0	SH3TC2	148398117	0.999000	0.42202	0.942000	0.38095	0.466000	0.32739	3.224000	0.51238	2.424000	0.82194	0.561000	0.74099	TCG		0.468	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	0	NM_024577		5:148417924
TNRC6B	23112	broad.mit.edu	37	22	40662002	40662002	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:40662002C>T	ENST00000454349.2	+	5	1979	c.1768C>T	c.(1768-1770)Cgt>Tgt	p.R590C	TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.R590C|TNRC6B_ENST00000301923.9_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	590	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						TAACTCTGGCCGTCGGTCGTA	0.527																																						ENST00000454349.2		NA																	0				breast(1)	1						c.(1768-1770)Cgt>Tgt		trinucleotide repeat containing 6B							108.0	113.0	111.0					22																	40662002		2001	4172	6173	SO:0001583	missense	23112				gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding	g.chr22:40662002C>T	AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.1768C>T	22.37:g.40662002C>T	ENSP00000401946:p.Arg590Cys	True	False		Somatic	0				TNRC6B_ENST00000335727.8_Missense_Mutation_p.R590C|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000301923.9_Intron	p.R590C	NM_001162501.1	NP_001155973.1	WXS	Illumina HiSeq	Phase_I	Q9UPQ9	TNR6B_HUMAN			5	1979	+			590					B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	c.1768C>T	CCDS54533.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539333	0.45176	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.14022	2.56;2.54	5.53	5.53	0.82687	.	0.106556	0.64402	D	0.000003	T	0.23965	0.0580	N	0.22421	0.69	0.50467	D	0.999871	D;D;D	0.89917	1.0;0.998;0.996	D;B;P	0.76575	0.988;0.446;0.649	T	0.01276	-1.1398	10	0.56958	D	0.05	-4.2093	14.3069	0.66391	0.1485:0.8515:0.0:0.0	.	590;590;590	Q9UPQ9;A8MYY3;Q9UPQ9-1	TNR6B_HUMAN;.;.	C	590	ENSP00000401946:R590C;ENSP00000338371:R590C	ENSP00000338371:R590C	R	+	1	0	TNRC6B	38991948	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.492000	0.53259	2.607000	0.88179	0.555000	0.69702	CGT		0.527	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding		0			22:40662002
SMAD4	4089	broad.mit.edu	37	18	48591918	48591918	+	Missense_Mutation	SNP	C	C	T	rs80338963		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr18:48591918C>T	ENST00000342988.3	+	9	1619	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|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)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGAGGAGATCGCTTTTGTTT	0.413																																						ENST00000342988.3		NA																	43	Whole gene deletion(36)|Substitution - Missense(5)|Unknown(2)	p.0?(36)|p.R361C(3)|p.R361S(2)|p.?(2)	pancreas(26)|large_intestine(4)|lung(3)|breast(3)|stomach(2)|small_intestine(2)|upper_aerodigestive_tract(1)|biliary_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CM040450|CM041789|CM981228	SMAD4	M	rs80338963	c.(1081-1083)Cgc>Tgc		SMAD family member 4							179.0	149.0	159.0					18																	48591918		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591918C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1081C>T	18.37:g.48591918C>T	ENSP00000341551:p.Arg361Cys	False	False		Somatic	0				SMAD4_ENST00000588745.1_Missense_Mutation_p.R265C|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361C	p.R361C	NM_005359.5	NP_005350.1	WXS	Illumina HiSeq	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1619	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	361		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1081C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820743	0.90873	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98164	-4.76;-4.76	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99275	0.9747	M	0.94021	3.485	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99157	1.0860	9	0.87932	D	0	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	361	Q13485	SMAD4_HUMAN	C	361	ENSP00000341551:R361C;ENSP00000381452:R361C	ENSP00000341551:R361C	R	+	1	0	SMAD4	46845916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.718000	0.61930	2.771000	0.95319	0.563000	0.77884	CGC		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	NM_005359		18:48591918
OR7G3	390883	broad.mit.edu	37	19	9237378	9237378	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:9237378C>A	ENST00000305444.2	-	1	248	c.249G>T	c.(247-249)gtG>gtT	p.V83V		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CCTGGATGTTCACCAGCATCT	0.502																																						ENST00000305444.2		NA																	0				NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(247-249)gtG>gtT		olfactory receptor, family 7, subfamily G, member 3							151.0	125.0	134.0					19																	9237378		2203	4300	6503	SO:0001819	synonymous_variant	390883				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9237378C>A		CCDS32899.1	19p13.2	2013-09-24			ENSG00000170920	ENSG00000170920		"""GPCR / Class A : Olfactory receptors"""	8467	protein-coding gene	gene with protein product							Standard	NM_001001958		Approved	OST085	uc010xkl.2	Q8NG95	OTTHUMG00000165520	ENST00000305444.2:c.249G>T	19.37:g.9237378C>A		False	False		Somatic	0					p.V83V	NM_001001958.1	NP_001001958.1	WXS	Illumina HiSeq	Phase_I	Q8NG95	OR7G3_HUMAN			1	248	-			83					Q6IFJ6|Q96R99	Silent	SNP	ENST00000305444.2	37	c.249G>T	CCDS32899.1																																																																																				0.502	OR7G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384611.1	0			19:9237378
MBOAT2	129642	broad.mit.edu	37	2	9004330	9004330	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:9004330C>A	ENST00000305997.3	-	10	1220	c.1022G>T	c.(1021-1023)tGg>tTg	p.W341L	MBOAT2_ENST00000486484.1_5'UTR	NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	341					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.W341L(1)	MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGAATATTCCAATTATCAAG	0.328																																					Ovarian(194;1699 3813 22401)	ENST00000305997.3		NA																MBOAT2/PRKCE(2)	1	Substitution - Missense(1)	p.W341L(1)	lung(1)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15						c.(1021-1023)tGg>tTg		membrane bound O-acyltransferase domain containing 2							93.0	92.0	92.0					2																	9004330		2203	4300	6503	SO:0001583	missense	129642				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr2:9004330C>A	BC016005	CCDS1660.1	2p25	2008-02-05	2006-06-29	2006-06-29	ENSG00000143797	ENSG00000143797			25193	protein-coding gene	gene with protein product		611949	"""O-acyltransferase (membrane bound) domain containing 2"""	OACT2			Standard	NM_138799		Approved	FLJ14415, FLJ90298	uc002qzg.1	Q6ZWT7	OTTHUMG00000090363	ENST00000305997.3:c.1022G>T	2.37:g.9004330C>A	ENSP00000302177:p.Trp341Leu	False	False		Somatic	0				MBOAT2_ENST00000486484.1_5'UTR	p.W341L	NM_138799.2	NP_620154.2	WXS	Illumina HiSeq	Phase_I	Q6ZWT7	MBOA2_HUMAN			10	1220	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		341					A9EDR2|Q8NCE7|Q96KY4	Missense_Mutation	SNP	ENST00000305997.3	37	c.1022G>T	CCDS1660.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939284	0.92526	.	.	ENSG00000143797	ENST00000305997	D	0.89681	-2.55	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.96140	0.8742	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.77557	0.984;0.99	D	0.96980	0.9714	10	0.87932	D	0	-8.5929	19.1781	0.93611	0.0:1.0:0.0:0.0	.	341;341	B7Z3I3;Q6ZWT7	.;MBOA2_HUMAN	L	341	ENSP00000302177:W341L	ENSP00000302177:W341L	W	-	2	0	MBOAT2	8921781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.270000	0.78493	2.532000	0.85374	0.561000	0.74099	TGG		0.328	MBOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206735.1	0	NM_138799		2:9004330
EPSTI1	94240	broad.mit.edu	37	13	43491691	43491691	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:43491691C>A	ENST00000398762.3	-	9	759	c.760G>T	c.(760-762)Gaa>Taa	p.E254*	EPSTI1_ENST00000313624.7_Nonsense_Mutation_p.E243*|EPSTI1_ENST00000476830.2_5'Flank|EPSTI1_ENST00000313640.7_Nonsense_Mutation_p.E254*			Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	254										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		TGATGTTGTTCATCCTTCATC	0.328																																						ENST00000313640.7		NA																	0				endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17						c.(760-762)Gaa>Taa		epithelial stromal interaction 1 (breast)							313.0	297.0	303.0					13																	43491691		2203	4300	6503	SO:0001587	stop_gained	94240							g.chr13:43491691C>A	AF396928	CCDS9387.1, CCDS31964.1	13q13.3	2011-06-27			ENSG00000133106	ENSG00000133106			16465	protein-coding gene	gene with protein product	"""epithelial stromal interaction protein 1"""	607441				11991720	Standard	NM_033255		Approved	BRESI1, MGC29634	uc001uyw.2	Q96J88	OTTHUMG00000016814	ENST00000398762.3:c.760G>T	13.37:g.43491691C>A	ENSP00000381746:p.Glu254*	False	False		Somatic	0				EPSTI1_ENST00000313624.7_Nonsense_Mutation_p.E243*|EPSTI1_ENST00000398762.3_Nonsense_Mutation_p.E254*	p.E254*	NM_001002264.2	NP_001002264.1	WXS	Illumina HiSeq	Phase_I	Q96J88	ESIP1_HUMAN		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)	9	824	-		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	254					Q8IVC7|Q8NDQ7	Nonsense_Mutation	SNP	ENST00000398762.3	37	c.760G>T	CCDS9387.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440564	0.96168	.	.	ENSG00000133106	ENST00000313640;ENST00000313624;ENST00000398762	.	.	.	4.85	4.85	0.62838	.	0.092687	0.46758	D	0.000266	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-10.3109	15.1843	0.72986	0.0:1.0:0.0:0.0	.	.	.	.	X	254;243;254	.	ENSP00000318643:E243X	E	-	1	0	EPSTI1	42389691	0.950000	0.32346	0.202000	0.23494	0.338000	0.28826	1.745000	0.38278	2.674000	0.91012	0.655000	0.94253	GAA		0.328	EPSTI1-010	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000400321.1	0	NM_001002264		13:43491691
CHAMP1	283489	broad.mit.edu	37	13	115091082	115091082	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:115091082G>T	ENST00000361283.1	+	3	2074	c.1765G>T	c.(1765-1767)Gat>Tat	p.D589Y		NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	Q96JM3	CHAP1_HUMAN	chromosome alignment maintaining phosphoprotein 1	589	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|protein localization to kinetochore (GO:0034501)|protein localization to microtubule (GO:0035372)|sister chromatid biorientation (GO:0031134)	condensed chromosome (GO:0000793)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)										TGCCATAGATGATCAAAAATG	0.388																																						ENST00000361283.1		NA																	0					NA						c.(1765-1767)Gat>Tat		chromosome alignment maintaining phosphoprotein 1							195.0	216.0	209.0					13																	115091082		2203	4300	6503	SO:0001583	missense	283489				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding	g.chr13:115091082G>T	AK074894	CCDS9545.1	13q34	2013-01-07	2011-10-07	2011-10-07	ENSG00000198824	ENSG00000198824		"""Zinc fingers, C2H2-type"""	20311	protein-coding gene	gene with protein product	"""chromosome alignment-maintaining phosphoprotein"""		"""chromosome 13 open reading frame 8"", ""zinc finger protein 828"""	C13orf8, ZNF828		21063390	Standard	NM_032436		Approved	CAMP, CHAMP	uc010ahb.3	Q96JM3	OTTHUMG00000017404	ENST00000361283.1:c.1765G>T	13.37:g.115091082G>T	ENSP00000354730:p.Asp589Tyr	False	False		Somatic	0					p.D589Y	NM_001164144.1|NM_001164145.1|NM_032436.2	NP_001157616.1|NP_001157617.1|NP_115812.1	WXS	Illumina HiSeq	Phase_I	Q96JM3	ZN828_HUMAN			3	2074	+			589			Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.		B3KU06|Q6P181|Q8NC88|Q9BST0	Missense_Mutation	SNP	ENST00000361283.1	37	c.1765G>T	CCDS9545.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774288	0.49786	.	.	ENSG00000198824	ENST00000361283	T	0.01572	4.76	5.6	4.74	0.60224	.	0.099413	0.43579	D	0.000555	T	0.04907	0.0132	L	0.50333	1.59	0.33710	D	0.615609	P	0.50710	0.938	P	0.54100	0.742	T	0.39121	-0.9629	9	.	.	.	-2.8332	13.2568	0.60083	0.0748:0.0:0.9252:0.0	.	589	Q96JM3	ZN828_HUMAN	Y	589	ENSP00000354730:D589Y	.	D	+	1	0	ZNF828	114109184	1.000000	0.71417	0.613000	0.29037	0.955000	0.61496	4.221000	0.58574	1.331000	0.45412	0.655000	0.94253	GAT		0.388	CHAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045977.2	0	NM_032436		13:115091082
ANO3	63982	broad.mit.edu	37	11	26556101	26556101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:26556101C>A	ENST00000256737.3	+	9	1820	c.968C>A	c.(967-969)tCa>tAa	p.S323*	ANO3_ENST00000525139.1_Nonsense_Mutation_p.S307*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.S307*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.S177*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	323					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AATGGAATATCAAAAGTGGGT	0.318																																						ENST00000256737.3		NA																	0				breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(967-969)tCa>tAa		anoctamin 3							78.0	78.0	78.0					11																	26556101		2203	4299	6502	SO:0001587	stop_gained	63982					chloride channel complex	chloride channel activity	g.chr11:26556101C>A	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.968C>A	11.37:g.26556101C>A	ENSP00000256737:p.Ser323*	True	False		Somatic	0				ANO3_ENST00000525139.1_Nonsense_Mutation_p.S307*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.S177*|ANO3_ENST00000537978.1_Nonsense_Mutation_p.S307*	p.S323*	NM_031418.2	NP_113606.2	WXS	Illumina HiSeq	Phase_I	Q9BYT9	ANO3_HUMAN			9	1820	+			323					B7Z3F5	Nonsense_Mutation	SNP	ENST00000256737.3	37	c.968C>A	CCDS31447.1	.	.	.	.	.	.	.	.	.	.	C	39	7.882011	0.98542	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	.	.	.	5.03	5.03	0.67393	.	0.390504	0.26959	N	0.021623	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	17.9596	0.89081	0.0:1.0:0.0:0.0	.	.	.	.	X	307;307;323;225;177	.	ENSP00000256737:S323X	S	+	2	0	ANO3	26512677	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.640000	0.61368	2.349000	0.79799	0.460000	0.39030	TCA		0.318	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	0	NM_031418		11:26556101
TIFA	92610	broad.mit.edu	37	4	113199421	113199421	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:113199421C>A	ENST00000361717.3	-	2	433	c.152G>T	c.(151-153)cGa>cTa	p.R51L	TIFA_ENST00000500655.2_Missense_Mutation_p.R51L	NM_052864.2	NP_443096.1	Q96CG3	TIFA_HUMAN	TRAF-interacting protein with forkhead-associated domain	51	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)					breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00172)		GTTGGAATTTCGGCCAAATTT	0.413																																						ENST00000361717.2		NA																	0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(151-153)cGa>cTa		TRAF-interacting protein with forkhead-associated domain							80.0	91.0	88.0					4																	113199421		2199	4295	6494	SO:0001583	missense	92610						protein binding	g.chr4:113199421C>A	BC008294	CCDS34051.1	4q25	2008-03-17				ENSG00000145365			19075	protein-coding gene	gene with protein product	"""TRAF2 binding protein"", ""TRAF6 binding protein"""	609028				1179819	Standard	NM_052864		Approved	MGC20791, T2BP, T6BP, TIFAA	uc003ial.3	Q96CG3		ENST00000361717.3:c.152G>T	4.37:g.113199421C>A	ENSP00000354911:p.Arg51Leu	True	False		Somatic	0				TIFA_ENST00000500655.2_Missense_Mutation_p.R51L	p.R51L	NM_052864.2	NP_443096.1	WXS	Illumina HiSeq	Phase_I	Q96CG3	TIFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00172)	2	433	-		Ovarian(17;0.0443)|Hepatocellular(203;0.217)	51			FHA.			Missense_Mutation	SNP	ENST00000361717.3	37	c.152G>T	CCDS34051.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038362	0.93630	.	.	ENSG00000145365	ENST00000361717;ENST00000438746;ENST00000500655	T;T	0.74106	-0.81;-0.81	5.92	5.92	0.95590	Forkhead-associated (FHA) domain (4);	0.000000	0.85682	D	0.000000	D	0.87083	0.6089	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87214	0.2249	10	0.87932	D	0	-16.928	20.3343	0.98733	0.0:1.0:0.0:0.0	.	51	Q96CG3	TIFA_HUMAN	L	51	ENSP00000354911:R51L;ENSP00000424231:R51L	ENSP00000354911:R51L	R	-	2	0	TIFA	113418870	0.999000	0.42202	0.960000	0.40013	0.980000	0.70556	4.514000	0.60482	2.822000	0.97130	0.650000	0.86243	CGA		0.413	TIFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363647.2	0	NM_052864		4:113199421
YJEFN3	374887	broad.mit.edu	37	19	19645890	19645890	+	Silent	SNP	C	C	A	rs572316855		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:19645890C>A	ENST00000514277.4	+	4	404	c.366C>A	c.(364-366)gtC>gtA	p.V122V	YJEFN3_ENST00000608404.1_Silent_p.V121V|YJEFN3_ENST00000436027.5_Silent_p.V72V|CTC-260F20.3_ENST00000555938.1_Silent_p.V121V	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	122	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						CGGTGCTGGTCGTGTGTGGCC	0.642																																						ENST00000555938.1		NA																	0					NA						c.(361-363)gtC>gtA									87.0	106.0	99.0					19																	19645890		2122	4229	6351	SO:0001819	synonymous_variant	0							g.chr19:19645890C>A		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.366C>A	19.37:g.19645890C>A		True	False		Somatic	0				YJEFN3_ENST00000514277.3_Silent_p.V122V|YJEFN3_ENST00000436027.4_Silent_p.V72V	p.V121V			WXS	Illumina HiSeq	Phase_I					5	375	+			NA					A6XGK9|Q4G1C0	Silent	SNP	ENST00000514277.4	37	c.363C>A	CCDS42530.1																																																																																				0.642	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	0	NM_198537		19:19645890
IRX2	153572	broad.mit.edu	37	5	2749639	2749639	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:2749639C>T	ENST00000382611.6	-	2	760	c.512G>A	c.(511-513)cGc>cAc	p.R171H	C5orf38_ENST00000397835.4_5'Flank|IRX2_ENST00000302057.5_Missense_Mutation_p.R171H|C5orf38_ENST00000457752.2_5'Flank|IRX2_ENST00000502957.1_5'UTR|C5orf38_ENST00000515640.1_5'Flank|C5orf38_ENST00000505778.1_5'Flank|C5orf38_ENST00000334000.3_5'Flank	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	171					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CTTCTTGAGGCGCCGGCGCGC	0.592																																						ENST00000382611.6		NA																	0				breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26						c.(511-513)cGc>cAc		iroquois homeobox 2							136.0	128.0	131.0					5																	2749639		2203	4300	6503	SO:0001583	missense	153572					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:2749639C>T	AF319967	CCDS3868.1	5p15.33	2011-06-20	2007-07-13		ENSG00000170561	ENSG00000170561		"""Homeoboxes / TALE class"""	14359	protein-coding gene	gene with protein product		606198				11435706	Standard	NM_033267		Approved		uc003jdb.3	Q9BZI1	OTTHUMG00000090377	ENST00000382611.6:c.512G>A	5.37:g.2749639C>T	ENSP00000372056:p.Arg171His	False	False		Somatic	0				IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.R171H	p.R171H	NM_001134222.1	NP_001127694.1	WXS	Illumina HiSeq	Phase_I	Q9BZI1	IRX2_HUMAN		GBM - Glioblastoma multiforme(108;0.204)	2	760	-			171					Q68A19|Q7Z2I7	Missense_Mutation	SNP	ENST00000382611.6	37	c.512G>A	CCDS3868.1	.	.	.	.	.	.	.	.	.	.	C	35	5.448586	0.96205	.	.	ENSG00000170561	ENST00000382611;ENST00000302057;ENST00000502957	D;D;D	0.98617	-5.03;-5.03;-5.03	4.85	4.85	0.62838	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.99471	0.9812	H	0.96996	3.92	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98132	1.0431	10	0.87932	D	0	-23.159	17.9697	0.89110	0.0:1.0:0.0:0.0	.	171	Q9BZI1	IRX2_HUMAN	H	171;171;78	ENSP00000372056:R171H;ENSP00000307006:R171H;ENSP00000426151:R78H	ENSP00000307006:R171H	R	-	2	0	IRX2	2802639	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.460000	0.80816	2.239000	0.73571	0.655000	0.94253	CGC		0.592	IRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206749.2	0			5:2749639
KCNK2	3776	broad.mit.edu	37	1	215408472	215408472	+	Missense_Mutation	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:215408472T>C	ENST00000444842.2	+	7	1415	c.1265T>C	c.(1264-1266)aTt>aCt	p.I422T	KCNK2_ENST00000391894.2_Missense_Mutation_p.I407T|KCNK2_ENST00000391895.2_Missense_Mutation_p.I418T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	422	Essential for chloroform and halothane sensitivity. {ECO:0000250}.|Required for basal channel activity. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	ATTGCTGTGATTGAGAACATC	0.438																																						ENST00000444842.2		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(1264-1266)aTt>aCt		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						142.0	138.0	140.0					1																	215408472		2203	4299	6502	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215408472T>C	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1265T>C	1.37:g.215408472T>C	ENSP00000394033:p.Ile422Thr	False	False		Somatic	0				KCNK2_ENST00000391895.2_Missense_Mutation_p.I418T|KCNK2_ENST00000391894.2_Missense_Mutation_p.I407T	p.I422T	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	WXS	Illumina HiSeq	Phase_I	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	7	1415	+			422			Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.1265T>C	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	T	16.60	3.167433	0.57476	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.26518	1.73;1.76;1.73	5.63	5.63	0.86233	.	0.385177	0.29565	N	0.011799	T	0.21347	0.0514	L	0.27053	0.805	0.58432	D	0.999999	P;P;P	0.40731	0.728;0.608;0.728	B;B;B	0.37888	0.26;0.133;0.26	T	0.03157	-1.1066	10	0.87932	D	0	.	15.8309	0.78749	0.0:0.0:0.0:1.0	.	407;422;418	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	T	418;407;422	ENSP00000375765:I418T;ENSP00000375764:I407T;ENSP00000394033:I422T	ENSP00000375764:I407T	I	+	2	0	KCNK2	213475095	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.502000	0.81614	2.149000	0.67028	0.402000	0.26972	ATT		0.438	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	0	NM_014217		1:215408472
CEP135	9662	broad.mit.edu	37	4	56890672	56890672	+	Missense_Mutation	SNP	G	G	T	rs368917402		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:56890672G>T	ENST00000257287.4	+	25	3450	c.3326G>T	c.(3325-3327)cGa>cTa	p.R1109L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1109					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.R1109L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AACAGAGAACGAGCAATCCAA	0.378																																						ENST00000257287.4		NA																	1	Substitution - Missense(1)	p.R1109L(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50						c.(3325-3327)cGa>cTa		centrosomal protein 135kDa							198.0	186.0	190.0					4																	56890672		2203	4300	6503	SO:0001583	missense	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56890672G>T	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3326G>T	4.37:g.56890672G>T	ENSP00000257287:p.Arg1109Leu	False	False		Somatic	0					p.R1109L	NM_025009.4	NP_079285.2	WXS	Illumina HiSeq	Phase_I	Q66GS9	CP135_HUMAN			25	3450	+	Glioma(25;0.08)|all_neural(26;0.101)		1109					B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	c.3326G>T	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.294174	0.81025	.	.	ENSG00000174799	ENST00000257287	T	0.15952	2.38	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.47820	0.1466	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.46884	-0.9159	10	0.62326	D	0.03	.	19.7006	0.96050	0.0:0.0:1.0:0.0	.	1109	Q66GS9	CP135_HUMAN	L	1109	ENSP00000257287:R1109L	ENSP00000257287:R1109L	R	+	2	0	CEP135	56585429	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	7.130000	0.77235	2.664000	0.90586	0.650000	0.86243	CGA		0.378	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	0	NM_025009		4:56890672
DCDC2	51473	broad.mit.edu	37	6	24205358	24205358	+	Intron	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:24205358C>A	ENST00000378454.3	-	8	1224				DCDC2_ENST00000378450.3_Missense_Mutation_p.D52Y	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2						cellular defense response (GO:0006968)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|neuron migration (GO:0001764)|visual learning (GO:0008542)					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				CAGTGAAAATCAAAATCCAAT	0.378																																						ENST00000378450.3		NA																	0				breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(154-156)Gat>Tat		doublecortin domain containing 2							124.0	121.0	122.0					6																	24205358		2203	4299	6502	SO:0001627	intron_variant	51473				cellular defense response|intracellular signal transduction|neuron migration			g.chr6:24205358C>A	AB032980	CCDS4550.1	6p22.1	2008-02-05			ENSG00000146038	ENSG00000146038			18141	protein-coding gene	gene with protein product		605755				10601354, 10574461	Standard	NM_001195610		Approved	RU2, KIAA1154, DCDC2A	uc003ndx.3	Q9UHG0	OTTHUMG00000016275	ENST00000378454.3:c.923-28G>T	6.37:g.24205358C>A		True	False		Somatic	0				DCDC2_ENST00000378454.3_Intron	p.D52Y			WXS	Illumina HiSeq	Phase_I	Q9UHG0	DCDC2_HUMAN			1	173	-		Ovarian(999;0.101)	0			Doublecortin 1.		Q5VTR8|Q5VTR9|Q86W35|Q9UFD1|Q9UHG1|Q9ULR6	Missense_Mutation	SNP	ENST00000378454.3	37	c.154G>T	CCDS4550.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830278	0.32329	.	.	ENSG00000146038	ENST00000378450	T	0.50813	0.73	6.07	0.246	0.15516	.	.	.	.	.	T	0.10035	0.0246	.	.	.	0.09310	N	1	B	0.17667	0.023	B	0.16289	0.015	T	0.33033	-0.9884	7	.	.	.	.	4.5225	0.11966	0.4248:0.3732:0.0962:0.1058	.	52	Q9UHG0-2	.	Y	52	ENSP00000367711:D52Y	.	D	-	1	0	DCDC2	24313337	0.305000	0.24481	0.640000	0.29408	0.917000	0.54804	-0.294000	0.08309	0.091000	0.17302	0.655000	0.94253	GAT		0.378	DCDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043604.1	0	NM_016356		6:24205358
CCDC127	133957	broad.mit.edu	37	5	205888	205888	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr5:205888G>A	ENST00000296824.3	-	3	439	c.307C>T	c.(307-309)Cga>Tga	p.R103*		NM_145265.2	NP_660308.1	Q96BQ5	CC127_HUMAN	coiled-coil domain containing 127	103										breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12			all cancers(22;0.0236)|Lung(60;0.113)			AGGGCTTCTCGGTAACTAGCA	0.498																																						ENST00000296824.3		NA																	0				breast(1)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						c.(307-309)Cga>Tga		coiled-coil domain containing 127							101.0	101.0	101.0					5																	205888		2203	4300	6503	SO:0001587	stop_gained	133957							g.chr5:205888G>A	AK098567	CCDS3852.1	5p15.33	2008-02-05			ENSG00000164366	ENSG00000164366			30520	protein-coding gene	gene with protein product						12477932	Standard	NM_145265		Approved	FLJ25701	uc003jam.1	Q96BQ5	OTTHUMG00000161586	ENST00000296824.3:c.307C>T	5.37:g.205888G>A	ENSP00000296824:p.Arg103*	False	False		Somatic	0					p.R103*	NM_145265.2	NP_660308.1	WXS	Illumina HiSeq	Phase_I	Q96BQ5	CC127_HUMAN	all cancers(22;0.0236)|Lung(60;0.113)		3	439	-			103						Nonsense_Mutation	SNP	ENST00000296824.3	37	c.307C>T	CCDS3852.1	.	.	.	.	.	.	.	.	.	.	G	14.75	2.629715	0.46944	.	.	ENSG00000164366	ENST00000296824	.	.	.	5.77	4.91	0.64330	.	0.120792	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6082	14.1903	0.65635	0.0:0.0:0.8491:0.1509	.	.	.	.	X	103	.	ENSP00000296824:R103X	R	-	1	2	CCDC127	258888	1.000000	0.71417	0.944000	0.38274	0.475000	0.33008	2.365000	0.44196	1.457000	0.47850	-0.218000	0.12543	CGA		0.498	CCDC127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365459.2	0	NM_145265		5:205888
CCPG1	9236	broad.mit.edu	37	15	55652145	55652145	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:55652145G>T	ENST00000310958.6	-	8	2124	c.1826C>A	c.(1825-1827)tCa>tAa	p.S609*	CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000569205.1_Nonsense_Mutation_p.S609*|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.S609*	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	609					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GCATTTCTTTGAATTTGTATT	0.373																																						ENST00000310958.6		NA																	0				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30						c.(1825-1827)tCa>tAa		cell cycle progression 1							81.0	79.0	79.0					15																	55652145		1799	4059	5858	SO:0001587	stop_gained	9236				cell cycle	integral to membrane		g.chr15:55652145G>T	AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1826C>A	15.37:g.55652145G>T	ENSP00000311656:p.Ser609*	True	False		Somatic	0				CCPG1_ENST00000569205.1_Nonsense_Mutation_p.S609*|CCPG1_ENST00000442196.3_Nonsense_Mutation_p.S609*|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000425574.3_Intron	p.S609*	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	WXS	Illumina HiSeq	Phase_I	Q9ULG6	CCPG1_HUMAN		all cancers(107;0.0354)	8	2124	-			609					A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Nonsense_Mutation	SNP	ENST00000310958.6	37	c.1826C>A	CCDS42039.1	.	.	.	.	.	.	.	.	.	.	G	9.715	1.158088	0.21454	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	.	.	.	5.62	4.7	0.59300	.	0.270366	0.30320	N	0.009898	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7122	0.51630	0.0808:0.0:0.9192:0.0	.	.	.	.	X	609	.	ENSP00000311656:S609X	S	-	2	0	DYX1C1	53439437	0.186000	0.23225	0.002000	0.10522	0.061000	0.15899	3.051000	0.49885	1.393000	0.46605	0.655000	0.94253	TCA		0.373	CCPG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419850.1	0	NM_004748		15:55652145
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|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)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	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	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	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)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(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						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		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.chr12:25398284C>T	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.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	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	226	-	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.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	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		12:25398284
KIAA1841	84542	broad.mit.edu	37	2	61319641	61319641	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:61319641C>A	ENST00000402291.1	+	11	1372	c.1131C>A	c.(1129-1131)ttC>ttA	p.F377L	KIAA1841_ENST00000295031.5_Missense_Mutation_p.F377L|KIAA1841_ENST00000356719.2_Missense_Mutation_p.F377L|KIAA1841_ENST00000453873.1_Missense_Mutation_p.F377L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	377										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATAGTCTTTTCGAAGAATTAA	0.313																																						ENST00000402291.1		NA																	0				breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25						c.(1129-1131)ttC>ttA		KIAA1841							87.0	94.0	92.0					2																	61319641		2203	4300	6503	SO:0001583	missense	84542							g.chr2:61319641C>A	BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.1131C>A	2.37:g.61319641C>A	ENSP00000385579:p.Phe377Leu	True	False		Somatic	0				KIAA1841_ENST00000295031.5_Missense_Mutation_p.F377L|KIAA1841_ENST00000453873.1_Missense_Mutation_p.F377L|KIAA1841_ENST00000356719.2_Missense_Mutation_p.F377L	p.F377L	NM_001129993.1	NP_001123465.1	WXS	Illumina HiSeq	Phase_I	Q6NSI8	K1841_HUMAN	Epithelial(17;0.193)		11	1372	+			377					Q49AF0|Q6ZND0|Q96JI6	Missense_Mutation	SNP	ENST00000402291.1	37	c.1131C>A	CCDS46296.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983612	0.35036	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.57	3.21	0.36854	.	0.205027	0.44483	D	0.000455	T	0.42988	0.1227	L	0.46157	1.445	0.41078	D	0.9855	P;P	0.39535	0.677;0.585	B;B	0.39419	0.198;0.299	T	0.14559	-1.0468	9	0.19147	T	0.46	-15.8163	10.1076	0.42544	0.0:0.2114:0.0:0.7886	.	377;377	Q6NSI8-2;Q6NSI8	.;K1841_HUMAN	L	377	.	ENSP00000295031:F377L	F	+	3	2	KIAA1841	61173145	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.061000	0.30542	0.405000	0.25532	-1.224000	0.01588	TTC		0.313	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325477.1	0	NM_032506		2:61319641
PGR	5241	broad.mit.edu	37	11	100922228	100922228	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:100922228C>A	ENST00000325455.5	-	5	3737	c.2284G>T	c.(2284-2286)Ggt>Tgt	p.G762C	PGR_ENST00000263463.5_Missense_Mutation_p.G660C|PGR_ENST00000534013.1_Missense_Mutation_p.G168C	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	762	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	CATCCTAGACCAAACACCATT	0.348																																					Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(2284-2286)Ggt>Tgt		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						119.0	117.0	118.0					11																	100922228		2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100922228C>A	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2284G>T	11.37:g.100922228C>A	ENSP00000325120:p.Gly762Cys	True	False		Somatic	0				PGR_ENST00000263463.5_Missense_Mutation_p.G660C|PGR_ENST00000534013.1_Missense_Mutation_p.G168C	p.G762C	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	WXS	Illumina HiSeq	Phase_I	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	5	3737	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	762			Steroid-binding.		A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.2284G>T	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616469	0.66672	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	D;D;D	0.96619	-4.07;-4.07;-4.07	5.24	5.24	0.73138	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.119765	0.56097	D	0.000031	D	0.98052	0.9358	M	0.77406	2.37	0.27257	N	0.95872	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.99;0.997;0.969	D	0.94318	0.7551	10	0.66056	D	0.02	.	18.8379	0.92169	0.0:1.0:0.0:0.0	.	660;762;143	Q8TDS3;P06401;A7LQ08	.;PRGR_HUMAN;.	C	762;168;660;660	ENSP00000325120:G762C;ENSP00000436561:G168C;ENSP00000263463:G660C	ENSP00000263463:G660C	G	-	1	0	PGR	100427438	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.049000	0.57397	2.435000	0.82474	0.650000	0.86243	GGT		0.348	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1	0			11:100922228
CDH4	1002	broad.mit.edu	37	20	60511971	60511971	+	Silent	SNP	G	G	A	rs374087046		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:60511971G>A	ENST00000360469.5	+	16	2809	c.2721G>A	c.(2719-2721)gcG>gcA	p.A907A	CDH4_ENST00000543233.1_Silent_p.A833A	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	907					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGAAGCTGGCGGACATGTATG	0.602																																						ENST00000360469.5		NA																	0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2719-2721)gcG>gcA		cadherin 4, type 1, R-cadherin (retinal)		G		0,4406		0,0,2203	79.0	57.0	64.0		2721	-1.1	1.0	20		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH4	NM_001794.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		907/917	60511971	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60511971G>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2721G>A	20.37:g.60511971G>A		False	False		Somatic	0				CDH4_ENST00000543233.1_Silent_p.A833A	p.A907A	NM_001794.3	NP_001785.2	WXS	Illumina HiSeq	Phase_I	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		16	2809	+			907					B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Silent	SNP	ENST00000360469.5	37	c.2721G>A	CCDS13488.1																																																																																				0.602	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	0	NM_001794		20:60511971
ATP12A	479	broad.mit.edu	37	13	25264491	25264491	+	Silent	SNP	C	C	A	rs368648921		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:25264491C>A	ENST00000381946.3	+	6	729	c.562C>A	c.(562-564)Cga>Aga	p.R188R	ATP12A_ENST00000218548.6_Silent_p.R188R			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	188					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TCTCGTCATCCGAGATTCCGA	0.577																																					Pancreas(156;1582 1935 18898 22665 26498)	ENST00000218548.6		NA																	0				breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74						c.(562-564)Cga>Aga		ATPase, H+/K+ transporting, nongastric, alpha polypeptide	Esomeprazole(DB00736)|Pantoprazole(DB00213)						132.0	127.0	129.0					13																	25264491		2203	4300	6503	SO:0001819	synonymous_variant	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25264491C>A	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.562C>A	13.37:g.25264491C>A		False	False		Somatic	0				ATP12A_ENST00000381946.3_Silent_p.R188R	p.R188R	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	WXS	Illumina HiSeq	Phase_I	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	6	895	+		Lung SC(185;0.0225)|Breast(139;0.077)	188					Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Silent	SNP	ENST00000381946.3	37	c.562C>A	CCDS31948.1																																																																																				0.577	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	0	NM_001676		13:25264491
ATR	545	broad.mit.edu	37	3	142231128	142231128	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:142231128G>T	ENST00000350721.4	-	27	4947	c.4826C>A	c.(4825-4827)tCa>tAa	p.S1609*	ATR_ENST00000383101.3_Nonsense_Mutation_p.S1545*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1609					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATTTCTGTTTGATTTGCTGTG	0.388								Other conserved DNA damage response genes																														ENST00000350721.4		NA																	0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(4825-4827)tCa>tAa	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							197.0	175.0	183.0					3																	142231128		2203	4300	6503	SO:0001587	stop_gained	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142231128G>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4826C>A	3.37:g.142231128G>T	ENSP00000343741:p.Ser1609*	True	False		Somatic	0				ATR_ENST00000383101.3_Nonsense_Mutation_p.S1545*	p.S1609*	NM_001184.3	NP_001175.2	WXS	Illumina HiSeq	Phase_I	Q13535	ATR_HUMAN			27	4947	-			1609					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Nonsense_Mutation	SNP	ENST00000350721.4	37	c.4826C>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	42	9.738096	0.99252	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	.	.	.	4.78	4.78	0.61160	.	1.479250	0.04545	N	0.388847	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.2296	17.8468	0.88732	0.0:0.0:1.0:0.0	.	.	.	.	X	1609;1545	.	ENSP00000343741:S1609X	S	-	2	0	ATR	143713818	1.000000	0.71417	0.771000	0.31576	0.384000	0.30261	5.979000	0.70508	2.205000	0.71048	0.460000	0.39030	TCA		0.388	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	0	NM_001184		3:142231128
TMEM131	23505	broad.mit.edu	37	2	98422018	98422018	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:98422018G>T	ENST00000186436.5	-	20	2432	c.2204C>A	c.(2203-2205)tCa>tAa	p.S735*		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	735						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCAAACCTTTGATTTTTTTCC	0.358																																						ENST00000186436.5		NA																	0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(2203-2205)tCa>tAa		transmembrane protein 131							176.0	188.0	184.0					2																	98422018		1805	4073	5878	SO:0001587	stop_gained	23505					integral to membrane		g.chr2:98422018G>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2204C>A	2.37:g.98422018G>T	ENSP00000186436:p.Ser735*	True	False		Somatic	0					p.S735*	NM_015348.1	NP_056163.1	WXS	Illumina HiSeq	Phase_I	Q92545	TM131_HUMAN			20	2432	-			735						Nonsense_Mutation	SNP	ENST00000186436.5	37	c.2204C>A	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	G	42	9.342510	0.99142	.	.	ENSG00000075568	ENST00000186436	.	.	.	6.07	6.07	0.98685	.	0.120296	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.5958	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	735	.	ENSP00000186436:S735X	S	-	2	0	TMEM131	97788450	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	TCA		0.358	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	0	XM_371542		2:98422018
NFATC3	4775	broad.mit.edu	37	16	68208395	68208395	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr16:68208395C>A	ENST00000346183.3	+	6	1917	c.1893C>A	c.(1891-1893)atC>atA	p.I631I	NFATC3_ENST00000329524.4_Silent_p.I631I|NFATC3_ENST00000349223.5_Silent_p.I631I|NFATC3_ENST00000575270.1_Silent_p.I631I|NFATC3_ENST00000535127.2_3'UTR	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	631					cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		AATCCAAAATCATTTTTCTTG	0.318																																						ENST00000349223.5		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44						c.(1891-1893)atC>atA		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3							122.0	130.0	127.0					16																	68208395		2198	4300	6498	SO:0001819	synonymous_variant	4775				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding	g.chr16:68208395C>A	L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.1893C>A	16.37:g.68208395C>A		False	False		Somatic	0				NFATC3_ENST00000329524.4_Silent_p.I631I|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Silent_p.I631I|NFATC3_ENST00000575270.1_Silent_p.I631I	p.I631I	NM_173163.2	NP_775186.1	WXS	Illumina HiSeq	Phase_I	Q12968	NFAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)	6	2117	+		Ovarian(137;0.0563)	631					O75211|Q14516|Q99840|Q99841|Q99842	Silent	SNP	ENST00000346183.3	37	c.1893C>A	CCDS10860.1																																																																																				0.318	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268890.2	0	NM_004555		16:68208395
COL6A5	256076	broad.mit.edu	37	3	130174477	130174477	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr3:130174477C>A	ENST00000432398.2	+	37	7251	c.6757C>A	c.(6757-6759)Caa>Aaa	p.Q2253K	COL6A5_ENST00000265379.6_Missense_Mutation_p.Q2253K	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2253	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.Q292K(1)|p.Q2253K(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TGAAAAAGATCAAAAATCTGC	0.333																																						ENST00000265379.6		NA																	2	Substitution - Missense(2)	p.Q292K(1)|p.Q2253K(1)	kidney(2)	endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(6757-6759)Caa>Aaa		collagen, type VI, alpha 5							49.0	48.0	49.0					3																	130174477		1804	4064	5868	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130174477C>A	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6757C>A	3.37:g.130174477C>A	ENSP00000390895:p.Gln2253Lys	True	False		Somatic	0				COL6A5_ENST00000432398.2_Missense_Mutation_p.Q2253K	p.Q2253K			WXS	Illumina HiSeq	Phase_I	A8TX70	CO6A5_HUMAN			37	7251	+			2253			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6757C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.821|3.821	-0.037685|-0.037685	0.07497|0.07497	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	D;D;T;T|.	0.88818|.	-2.34;-2.43;-0.87;-0.75|.	4.26|4.26	0.026|0.026	0.14148|0.14148	.|.	2.119150|.	0.02670|.	N|.	0.108475|.	T|.	0.21841|.	0.0526|.	N|N	0.17474|0.17474	0.49|0.49	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|.	0.30031|.	-0.9992|.	10|.	0.02654|.	T|.	1|.	.|.	8.2937|8.2937	0.31973|0.31973	0.3027:0.5542:0.1431:0.0|0.3027:0.5542:0.1431:0.0	.|.	2253;2253|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	K|X	2253;2253;196;88|504	ENSP00000390895:Q2253K;ENSP00000265379:Q2253K;ENSP00000362250:Q196K;ENSP00000424968:Q88K|.	ENSP00000265379:Q2253K|.	Q|S	+|+	1|2	0|0	COL6A5|COL6A5	131657167|131657167	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.464000|-0.464000	0.06688|0.06688	0.170000|0.170000	0.19704|0.19704	-0.846000|-0.846000	0.03041|0.03041	CAA|TCA		0.333	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_153264		3:130174477
UGT2B10	7365	broad.mit.edu	37	4	69683833	69683833	+	Missense_Mutation	SNP	T	T	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:69683833T>C	ENST00000265403.7	+	2	832	c.805T>C	c.(805-807)Ttc>Ctc	p.F269L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.F185L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	269					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TCCTCATCCATTCTTACCAAA	0.388																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7		NA																	0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(805-807)Ttc>Ctc		UDP glucuronosyltransferase 2 family, polypeptide B10							161.0	168.0	166.0					4																	69683833		2203	4298	6501	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69683833T>C	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.805T>C	4.37:g.69683833T>C	ENSP00000265403:p.Phe269Leu	False	False		Somatic	0				UGT2B10_ENST00000458688.2_Missense_Mutation_p.F185L	p.F269L	NM_001075.4	NP_001066.1	WXS	Illumina HiSeq	Phase_I	P36537	UDB10_HUMAN			2	832	+			269					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.805T>C		.	.	.	.	.	.	.	.	.	.	t	0.001	-2.962311	0.00049	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.54675	0.56;0.56	2.66	-5.02	0.02982	.	0.305292	0.30277	N	0.009989	T	0.13884	0.0336	N	0.02169	-0.655	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.24905	-1.0147	10	0.02654	T	1	.	3.7802	0.08677	0.2656:0.2148:0.0:0.5196	.	185;269	B4DPP1;P36537	.;UDB10_HUMAN	L	269;185	ENSP00000265403:F269L;ENSP00000413420:F185L	ENSP00000265403:F269L	F	+	1	0	UGT2B10	69718422	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.207000	0.09384	-1.970000	0.01003	-2.800000	0.00114	TTC		0.388	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	0	NM_001075		4:69683833
MIR1302-3	100302128	broad.mit.edu	37	2	114340629	114340629	+	RNA	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:114340629G>T	ENST00000408128.1	-	0	44					NR_031632.1				microRNA 1302-3																		tttatgctacgaaattattcg	0.338																																						ENST00000408128.1		NA																	0					NA															73.0	73.0	73.0					2																	114340629		1568	3564	5132			0							g.chr2:114340629G>T			2q13	2011-09-12		2008-12-18	ENSG00000221055	ENSG00000221055		"""ncRNAs / Micro RNAs"""	35295	non-coding RNA	RNA, micro				MIRN1302-3			Standard	NR_031632		Approved	hsa-mir-1302-3					2.37:g.114340629G>T		True	False		Somatic	0						NR_031632.1		WXS	Illumina HiSeq	Phase_I					0	44	-			NA						RNA	SNP	ENST00000408128.1	37																																																																																						0.338	MIR1302-3-201	KNOWN	basic	miRNA	miRNA		0	NR_031632		2:114340629
DLK2	65989	broad.mit.edu	37	6	43418947	43418947	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:43418947C>T	ENST00000357338.3	-	6	1182	c.482G>A	c.(481-483)cGc>cAc	p.R161H	DLK2_ENST00000372485.1_Missense_Mutation_p.R155H|DLK2_ENST00000372488.3_Missense_Mutation_p.R161H|DLK2_ENST00000414245.1_Missense_Mutation_p.R155H	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	161	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CACCAAGCAGCGGCACGTGAA	0.592																																						ENST00000357338.3		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(481-483)cGc>cAc		delta-like 2 homolog (Drosophila)							79.0	54.0	62.0					6																	43418947		2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43418947C>T	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.482G>A	6.37:g.43418947C>T	ENSP00000349893:p.Arg161His	False	False		Somatic	0				DLK2_ENST00000372488.3_Missense_Mutation_p.R161H|DLK2_ENST00000414245.1_Missense_Mutation_p.R155H|DLK2_ENST00000372485.1_Missense_Mutation_p.R155H	p.R161H	NM_206539.1	NP_996262.1	WXS	Illumina HiSeq	Phase_I	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1182	-	all_lung(25;0.00536)		161			EGF-like 4.		B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.482G>A	CCDS4897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.07|18.07	3.542004|3.542004	0.65198|0.65198	.|.	.|.	ENSG00000171462|ENSG00000171462	ENST00000430324|ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	.|D;D;D;D	.|0.87809	.|-2.3;-2.3;-2.3;-2.3	4.51|4.51	4.51|4.51	0.55191|0.55191	.|Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67297|0.67297	0.2878|0.2878	N|N	0.21373|0.21373	0.66|0.66	0.46167|0.46167	D|D	0.998909|0.998909	.|P	.|0.51240	.|0.943	.|B	.|0.40410	.|0.328	T|T	0.68655|0.68655	-0.5351|-0.5351	5|10	.|0.19147	.|T	.|0.46	.|.	12.2573|12.2573	0.54631|0.54631	0.0:0.9171:0.0:0.0829|0.0:0.9171:0.0:0.0829	.|.	.|161	.|Q6UY11	.|DLK2_HUMAN	T|H	67|155;161;161;155	.|ENSP00000361563:R155H;ENSP00000361566:R161H;ENSP00000349893:R161H;ENSP00000398906:R155H	.|ENSP00000349893:R161H	A|R	-|-	1|2	0|0	DLK2|DLK2	43526925|43526925	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.838000|0.838000	0.47535|0.47535	2.486000|2.486000	0.45259|0.45259	2.507000|2.507000	0.84556|0.84556	0.455000|0.455000	0.32223|0.32223	GCT|CGC		0.592	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	0	NM_023932		6:43418947
SLC1A4	6509	broad.mit.edu	37	2	65228619	65228619	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:65228619C>A	ENST00000234256.3	+	2	808	c.565C>A	c.(565-567)Cgt>Agt	p.R189S	SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_5'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	189					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TGCAGCTTTCCGTACGGTAAG	0.373																																						ENST00000234256.3		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13						c.(565-567)Cgt>Agt		solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	L-Alanine(DB00160)						153.0	143.0	147.0					2																	65228619		2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65228619C>A		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.565C>A	2.37:g.65228619C>A	ENSP00000234256:p.Arg189Ser	False	False		Somatic	0				SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_5'UTR	p.R189S	NM_003038.4	NP_003029.2	WXS	Illumina HiSeq	Phase_I	P43007	SATT_HUMAN			2	808	+			189					B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.565C>A	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646307	0.47258	.	.	ENSG00000115902	ENST00000448784;ENST00000234256	T	0.58060	0.36	6.17	3.39	0.38822	.	0.422704	0.29046	N	0.013305	T	0.35364	0.0929	N	0.25031	0.7	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.22386	0.026;0.039	T	0.08848	-1.0702	10	0.39692	T	0.17	-23.7892	6.4387	0.21837	0.2407:0.5793:0.1161:0.0639	.	189;189	P43007;B2R7N6	SATT_HUMAN;.	S	109;189	ENSP00000234256:R189S	ENSP00000234256:R189S	R	+	1	0	SLC1A4	65082123	0.033000	0.19621	0.115000	0.21578	0.961000	0.63080	2.576000	0.46033	0.455000	0.26910	0.655000	0.94253	CGT		0.373	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	0	NM_003038		2:65228619
ZNF385B	151126	broad.mit.edu	37	2	180311341	180311341	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:180311341G>T	ENST00000410066.1	-	7	1430	c.827C>A	c.(826-828)tCa>tAa	p.S276*	ZNF385B_ENST00000409343.1_Nonsense_Mutation_p.S200*|ZNF385B_ENST00000336917.5_Nonsense_Mutation_p.S174*|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409692.1_Nonsense_Mutation_p.S174*	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	276	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TTCTTCTTCTGATTCAACAAC	0.478																																					Colon(155;204 2491 32774 51842)	ENST00000410066.1		NA																	0				breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26						c.(826-828)tCa>tAa		zinc finger protein 385B							108.0	110.0	109.0					2																	180311341		2203	4300	6503	SO:0001587	stop_gained	151126					nucleus	nucleic acid binding|zinc ion binding	g.chr2:180311341G>T	AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.827C>A	2.37:g.180311341G>T	ENSP00000386845:p.Ser276*	True	False		Somatic	0				ZNF385B_ENST00000409343.1_Nonsense_Mutation_p.S200*|ZNF385B_ENST00000409692.1_Nonsense_Mutation_p.S174*|ZNF385B_ENST00000336917.5_Nonsense_Mutation_p.S174*|ZNF385B_ENST00000466398.1_5'UTR	p.S276*	NM_152520.4	NP_689733.3	WXS	Illumina HiSeq	Phase_I	Q569K4	Z385B_HUMAN	Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)		7	1430	-			276					Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Nonsense_Mutation	SNP	ENST00000410066.1	37	c.827C>A	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	G	37	6.259971	0.97421	.	.	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692;ENST00000457304	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	0.808	20.1338	0.98010	0.0:0.0:1.0:0.0	.	.	.	.	X	276;174;200;174;174	.	ENSP00000338225:S174X	S	-	2	0	ZNF385B	180019586	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.624000	0.98398	2.770000	0.95276	0.655000	0.94253	TCA		0.478	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	0	NM_152520		2:180311341
MAGI2	9863	broad.mit.edu	37	7	77755148	77755148	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:77755148C>A	ENST00000354212.4	-	20	3683	c.3430G>T	c.(3430-3432)Gat>Tat	p.D1144Y	MAGI2_ENST00000522391.1_Missense_Mutation_p.D1144Y|MAGI2_ENST00000419488.1_Missense_Mutation_p.D1130Y	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1144					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GTGAAATAATCAAAATCCTTT	0.398																																						ENST00000354212.4		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(3430-3432)Gat>Tat		membrane associated guanylate kinase, WW and PDZ domain containing 2							74.0	71.0	72.0					7																	77755148		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77755148C>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.3430G>T	7.37:g.77755148C>A	ENSP00000346151:p.Asp1144Tyr	True	False		Somatic	0				MAGI2_ENST00000522391.1_Missense_Mutation_p.D1144Y|MAGI2_ENST00000419488.1_Missense_Mutation_p.D1130Y	p.D1144Y	NM_012301.3	NP_036433.2	WXS	Illumina HiSeq	Phase_I	Q86UL8	MAGI2_HUMAN			20	3683	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	1144					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.3430G>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826992	0.90955	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.17691	2.26;2.26;2.26	6.03	6.03	0.97812	PDZ/DHR/GLGF (1);	0.000000	0.37530	U	0.002049	T	0.33498	0.0865	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.994;0.997	T	0.03175	-1.1064	10	0.72032	D	0.01	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1144;1130;1144	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	Y	1130;1144;1144;1144	ENSP00000405766:D1130Y;ENSP00000346151:D1144Y;ENSP00000428389:D1144Y	ENSP00000346151:D1144Y	D	-	1	0	MAGI2	77593084	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.861000	0.98227	0.655000	0.94253	GAT		0.398	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	0	NM_012301		7:77755148
TCP1	6950	broad.mit.edu	37	6	160202137	160202137	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:160202137G>A	ENST00000321394.7	-	8	1083	c.803C>T	c.(802-804)tCa>tTa	p.S268L	TCP1_ENST00000420894.2_Missense_Mutation_p.S268L|TCP1_ENST00000392168.2_Missense_Mutation_p.S113L|SNORA20_ENST00000384662.1_RNA|TCP1_ENST00000544255.1_Missense_Mutation_p.S44L	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	268					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GGTGATATCTGATTCTCTGCA	0.328																																						ENST00000321394.7		NA																	0				breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10						c.(802-804)tCa>tTa		t-complex 1							146.0	142.0	144.0					6																	160202137		2203	4300	6503	SO:0001583	missense	6950				'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding	g.chr6:160202137G>A	X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.803C>T	6.37:g.160202137G>A	ENSP00000317334:p.Ser268Leu	False	False		Somatic	0				TCP1_ENST00000392168.2_Missense_Mutation_p.S113L|TCP1_ENST00000544255.1_Missense_Mutation_p.S44L|TCP1_ENST00000420894.2_Missense_Mutation_p.S268L	p.S268L	NM_030752.2	NP_110379.2	WXS	Illumina HiSeq	Phase_I	P17987	TCPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	8	1083	-		Breast(66;1.53e-05)|Ovarian(120;0.024)	268					E1P5B2|Q15556|Q5TCM3	Missense_Mutation	SNP	ENST00000321394.7	37	c.803C>T	CCDS5269.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264755	0.40095	.	.	ENSG00000120438	ENST00000321394;ENST00000544255;ENST00000420894;ENST00000392168;ENST00000539756	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.63	5.63	0.86233	.	0.054590	0.85682	D	0.000000	T	0.43722	0.1260	N	0.04508	-0.205	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.14578	0.002;0.011	T	0.50381	-0.8835	10	0.10902	T	0.67	-8.3473	19.6959	0.96026	0.0:0.0:1.0:0.0	.	268;268	E7ERF2;P17987	.;TCPA_HUMAN	L	268;44;268;113;66	ENSP00000317334:S268L;ENSP00000439447:S44L;ENSP00000390159:S268L;ENSP00000376008:S113L;ENSP00000441345:S66L	ENSP00000317334:S268L	S	-	2	0	TCP1	160122127	1.000000	0.71417	0.978000	0.43139	0.911000	0.54048	7.367000	0.79558	2.659000	0.90383	0.650000	0.86243	TCA		0.328	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	0	NM_030752		6:160202137
PIGB	9488	broad.mit.edu	37	15	55642957	55642957	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:55642957C>A	ENST00000164305.5	+	10	1475	c.1184C>A	c.(1183-1185)tCa>tAa	p.S395*	CCPG1_ENST00000563294.1_5'Flank|PIGB_ENST00000539642.1_Nonsense_Mutation_p.S200*	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	395					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		CTGTTTTTATCAAATTTGTTC	0.343																																						ENST00000164305.5		NA																	0				endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11						c.(1183-1185)tCa>tAa		phosphatidylinositol glycan anchor biosynthesis, class B							149.0	149.0	149.0					15																	55642957		1821	4071	5892	SO:0001587	stop_gained	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55642957C>A	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.1184C>A	15.37:g.55642957C>A	ENSP00000164305:p.Ser395*	True	False		Somatic	0				PIGB_ENST00000539642.1_Nonsense_Mutation_p.S200*	p.S395*	NM_004855.4	NP_004846.4	WXS	Illumina HiSeq	Phase_I	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	10	1475	+			395					Q53FF9|Q8WVN7	Nonsense_Mutation	SNP	ENST00000164305.5	37	c.1184C>A		.	.	.	.	.	.	.	.	.	.	C	40	8.168956	0.98688	.	.	ENSG00000069943	ENST00000164305;ENST00000539642	.	.	.	6.08	5.16	0.70880	.	0.432063	0.25863	N	0.027801	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-11.2184	14.3722	0.66849	0.0:0.9296:0.0:0.0704	.	.	.	.	X	395;200	.	ENSP00000164305:S395X	S	+	2	0	PIGB	53430249	1.000000	0.71417	0.875000	0.34327	0.980000	0.70556	3.396000	0.52565	1.575000	0.49775	0.591000	0.81541	TCA		0.343	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1	0	NM_004855		15:55642957
PLEKHG1	57480	broad.mit.edu	37	6	151153189	151153189	+	Missense_Mutation	SNP	G	G	A	rs113595784	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:151153189G>A	ENST00000358517.2	+	15	3153	c.2942G>A	c.(2941-2943)cGg>cAg	p.R981Q	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.R981Q			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	981							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ATGATGGCTCGGCAGTACAGT	0.507																																						ENST00000367328.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(2941-2943)cGg>cAg		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							110.0	123.0	118.0					6																	151153189		2203	4300	6503	SO:0001583	missense	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151153189G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2942G>A	6.37:g.151153189G>A	ENSP00000351318:p.Arg981Gln	False	False		Somatic	0				PLEKHG1_ENST00000358517.2_Missense_Mutation_p.R981Q	p.R981Q	NM_001029884.1	NP_001025055.1	WXS	Illumina HiSeq	Phase_I	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	16	3254	+			981					Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	c.2942G>A	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	35	5.451520	0.96205	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.30448	1.53;1.53	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.50888	0.1642	M	0.68952	2.095	0.52501	D	0.999954	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.51108	-0.8747	10	0.87932	D	0	.	20.0825	0.97783	0.0:0.0:1.0:0.0	.	788;981;981	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	Q	981	ENSP00000356297:R981Q;ENSP00000351318:R981Q	ENSP00000351318:R981Q	R	+	2	0	PLEKHG1	151194882	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	9.476000	0.97823	2.746000	0.94184	0.655000	0.94253	CGG		0.507	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1	0			6:151153189
CCDC63	160762	broad.mit.edu	37	12	111336859	111336859	+	Silent	SNP	C	C	T	rs115748204	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:111336859C>T	ENST00000308208.5	+	10	1514	c.1272C>T	c.(1270-1272)gaC>gaT	p.D424D	CCDC63_ENST00000552694.1_Silent_p.D345D|CCDC63_ENST00000545036.1_Silent_p.D384D	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	424										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TAAACTGTGACGCCACCAAGA	0.498													C|||	12	0.00239617	0.0008	0.0	5008	,	,		19408	0.0		0.0	False		,,,				2504	0.0112					ENST00000308208.5		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						c.(1270-1272)gaC>gaT		coiled-coil domain containing 63		C		1,4405	2.1+/-5.4	0,1,2202	100.0	89.0	93.0		1272	-4.7	0.8	12	dbSNP_132	93	0,8600		0,0,4300	no	coding-synonymous	CCDC63	NM_152591.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		424/564	111336859	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	160762							g.chr12:111336859C>T	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1272C>T	12.37:g.111336859C>T		False	False		Somatic	0				CCDC63_ENST00000552694.1_Silent_p.D345D|CCDC63_ENST00000545036.1_Silent_p.D384D	p.D424D	NM_152591.1	NP_689804.1	WXS	Illumina HiSeq	Phase_I	Q8NA47	CCD63_HUMAN			10	1514	+			424					B4DY03|Q0P603|Q6P2E1	Silent	SNP	ENST00000308208.5	37	c.1272C>T	CCDS9151.1																																																																																				0.498	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	0	NM_152591		12:111336859
JPH1	56704	broad.mit.edu	37	8	75149493	75149493	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:75149493C>A	ENST00000342232.4	-	5	1991	c.1951G>T	c.(1951-1953)Ggg>Tgg	p.G651W	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	651					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.G651W(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ATGGCCAACCCGATATTCAAC	0.318																																						ENST00000342232.4		NA																	1	Substitution - Missense(1)	p.G651W(1)	lung(1)	endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1951-1953)Ggg>Tgg		junctophilin 1							107.0	99.0	102.0					8																	75149493		2203	4300	6503	SO:0001583	missense	56704				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		g.chr8:75149493C>A	AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1951G>T	8.37:g.75149493C>A	ENSP00000344488:p.Gly651Trp	True	False		Somatic	0				JPH1_ENST00000518195.1_5'UTR	p.G651W	NM_020647.2	NP_065698.1	WXS	Illumina HiSeq	Phase_I	Q9HDC5	JPH1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)		5	1991	-	Breast(64;0.00576)		651					B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	c.1951G>T	CCDS6217.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335460	0.81801	.	.	ENSG00000104369	ENST00000342232	T	0.78924	-1.22	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.87545	0.6204	M	0.68317	2.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88263	0.2924	10	0.87932	D	0	.	19.008	0.92859	0.0:1.0:0.0:0.0	.	651	Q9HDC5	JPH1_HUMAN	W	651	ENSP00000344488:G651W	ENSP00000344488:G651W	G	-	1	0	JPH1	75312047	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.943000	0.75934	2.740000	0.93945	0.650000	0.86243	GGG		0.318	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1	0			8:75149493
RBBP5	5929	broad.mit.edu	37	1	205073048	205073048	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:205073048C>A	ENST00000264515.6	-	5	600	c.459G>T	c.(457-459)ttG>ttT	p.L153F	RBBP5_ENST00000367164.1_Missense_Mutation_p.L153F|RBBP5_ENST00000484379.1_5'Flank	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	153					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCACAACGTTCAAATCGGAGT	0.458																																						ENST00000264515.6		NA																	0				cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(457-459)ttG>ttT		retinoblastoma binding protein 5							207.0	196.0	199.0					1																	205073048		2203	4300	6503	SO:0001583	missense	5929				histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding	g.chr1:205073048C>A	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.459G>T	1.37:g.205073048C>A	ENSP00000264515:p.Leu153Phe	True	False		Somatic	0				RBBP5_ENST00000367164.1_Missense_Mutation_p.L153F	p.L153F	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	WXS	Illumina HiSeq	Phase_I	Q15291	RBBP5_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0923)		5	600	-	Breast(84;0.0505)		153					A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	c.459G>T	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.935417	0.34189	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.60920	0.15;0.17	6.14	6.14	0.99180	WD40/YVTN repeat-like-containing domain (1);	0.128869	0.53938	D	0.000056	T	0.69522	0.3120	M	0.80616	2.505	0.80722	D	1	D;D;D;D	0.69078	0.997;0.994;0.99;0.983	D;P;P;P	0.63597	0.916;0.854;0.88;0.762	T	0.66432	-0.5925	10	0.09843	T	0.71	.	9.3503	0.38133	0.0:0.6767:0.2503:0.073	.	26;188;153;153	B4DLF8;B4DMM7;Q15291-2;Q15291	.;.;.;RBBP5_HUMAN	F	153	ENSP00000264515:L153F;ENSP00000356132:L153F	ENSP00000264515:L153F	L	-	3	2	RBBP5	203339671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.139000	0.31504	2.937000	0.99478	0.650000	0.86243	TTG		0.458	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090077.1	0	NM_005057		1:205073048
CFAP69	79846	broad.mit.edu	37	7	89894677	89894677	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:89894677C>A	ENST00000389297.4	+	5	670	c.419C>A	c.(418-420)tCa>tAa	p.S140*	C7orf63_ENST00000497910.1_Nonsense_Mutation_p.S140*|C7orf63_ENST00000463311.1_3'UTR|AC002064.4_ENST00000420245.1_RNA|C7orf63_ENST00000316089.8_Nonsense_Mutation_p.S140*	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		140										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ACTGCTAATTCAATTGCACTT	0.338																																						ENST00000389297.4		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(418-420)tCa>tAa		chromosome 7 open reading frame 63							135.0	135.0	135.0					7																	89894677		1840	4094	5934	SO:0001587	stop_gained	79846						binding	g.chr7:89894677C>A																												ENST00000389297.4:c.419C>A	7.37:g.89894677C>A	ENSP00000373948:p.Ser140*	False	False		Somatic	0				C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000497910.1_Nonsense_Mutation_p.S140*|C7orf63_ENST00000316089.8_Nonsense_Mutation_p.S140*	p.S140*	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	WXS	Illumina HiSeq	Phase_I	A5D8W1	CG063_HUMAN			5	670	+			140					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Nonsense_Mutation	SNP	ENST00000389297.4	37	c.419C>A	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	C	17.89	3.500480	0.64298	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170	.	.	.	5.29	5.29	0.74685	.	0.161726	0.42420	D	0.000707	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.4101	18.9074	0.92467	0.0:1.0:0.0:0.0	.	.	.	.	X	140;140;140;80	.	ENSP00000321753:S140X	S	+	2	0	C7orf63	89732613	0.999000	0.42202	1.000000	0.80357	0.981000	0.71138	2.081000	0.41596	2.456000	0.83038	0.591000	0.81541	TCA		0.338	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4	0			7:89894677
ANKLE2	23141	broad.mit.edu	37	12	133304629	133304629	+	Silent	SNP	C	C	A	rs371985719		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:133304629C>A	ENST00000357997.5	-	12	2693	c.2604G>T	c.(2602-2604)tcG>tcT	p.S868S	ANKLE2_ENST00000542282.1_Silent_p.S223S|ANKLE2_ENST00000542657.1_Silent_p.S223S|ANKLE2_ENST00000539605.1_Silent_p.S806S|ANKLE2_ENST00000542374.1_5'UTR	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	868					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.S868S(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TCTGTCTGTCCGAGGGTGAGT	0.572																																						ENST00000539605.1		NA																	1	Substitution - coding silent(1)	p.S868S(1)	lung(1)	NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45						c.(2416-2418)tcG>tcT		ankyrin repeat and LEM domain containing 2							119.0	130.0	126.0					12																	133304629		1996	4148	6144	SO:0001819	synonymous_variant	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133304629C>A	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2604G>T	12.37:g.133304629C>A		True	False		Somatic	0				ANKLE2_ENST00000542657.1_Silent_p.S223S|ANKLE2_ENST00000542374.1_5'UTR|ANKLE2_ENST00000357997.5_Silent_p.S868S|ANKLE2_ENST00000542282.1_Silent_p.S223S	p.S806S			WXS	Illumina HiSeq	Phase_I	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	11	9102	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	868					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Silent	SNP	ENST00000357997.5	37	c.2418G>T	CCDS41869.1																																																																																				0.572	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1	0			12:133304629
IFT88	8100	broad.mit.edu	37	13	21230565	21230565	+	Silent	SNP	C	C	A	rs147013462	byFrequency	TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:21230565C>A	ENST00000319980.6	+	24	2418	c.2091C>A	c.(2089-2091)gtC>gtA	p.V697V	IFT88_ENST00000382778.4_Silent_p.V697V|IFT88_ENST00000537103.1_Silent_p.V669V|IFT88_ENST00000351808.5_Silent_p.V688V	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	697					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CAGAAAATGTCGAATGTAAGT	0.259																																						ENST00000382778.4		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27						c.(2089-2091)gtC>gtA		intraflagellar transport 88 homolog (Chlamydomonas)							57.0	59.0	59.0					13																	21230565		2181	4246	6427	SO:0001819	synonymous_variant	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21230565C>A	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.2091C>A	13.37:g.21230565C>A		False	False		Somatic	0				IFT88_ENST00000319980.6_Silent_p.V697V|IFT88_ENST00000351808.5_Silent_p.V688V|IFT88_ENST00000537103.1_Silent_p.V669V	p.V697V			WXS	Illumina HiSeq	Phase_I	Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	23	3209	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	697					A2A491|B4DUS2|Q5SZJ6|Q8N719	Silent	SNP	ENST00000319980.6	37	c.2091C>A	CCDS31944.1																																																																																				0.259	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3	0	NM_006531		13:21230565
CDCA2	157313	broad.mit.edu	37	8	25319666	25319666	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:25319666G>T	ENST00000330560.3	+	4	806	c.329G>T	c.(328-330)cGg>cTg	p.R110L	CDCA2_ENST00000380665.3_Missense_Mutation_p.R95L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	110					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTCATTGCTCGGCAGCAAAAT	0.423																																						ENST00000330560.3		NA																	0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(328-330)cGg>cTg		cell division cycle associated 2							95.0	96.0	96.0					8																	25319666		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25319666G>T	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.329G>T	8.37:g.25319666G>T	ENSP00000328228:p.Arg110Leu	False	False		Somatic	0				CDCA2_ENST00000380665.3_Missense_Mutation_p.R95L	p.R110L	NM_152562.2	NP_689775.2	WXS	Illumina HiSeq	Phase_I	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	4	806	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	110					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.329G>T	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621391	0.46736	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.34072	1.38;1.38	5.4	4.14	0.48551	.	0.389705	0.20703	N	0.087238	T	0.25644	0.0624	L	0.29908	0.895	0.32580	N	0.528554	B;B;B	0.23937	0.094;0.043;0.043	B;B;B	0.20384	0.018;0.029;0.029	T	0.25606	-1.0127	10	0.66056	D	0.02	-5.2524	8.0077	0.30334	0.9055:0.0:0.0945:0.0	.	110;95;110	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	L	110;95	ENSP00000328228:R110L;ENSP00000370040:R95L	ENSP00000328228:R110L	R	+	2	0	CDCA2	25375583	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	2.167000	0.42415	0.864000	0.35578	-0.657000	0.03884	CGG		0.423	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	0	NM_152562		8:25319666
IQGAP3	128239	broad.mit.edu	37	1	156510545	156510545	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:156510545C>A	ENST00000361170.2	-	23	2704	c.2694G>T	c.(2692-2694)atG>atT	p.M898I	IQGAP3_ENST00000498755.1_5'Flank	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	898					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTTGATGTCCATGATGTTGA	0.562																																						ENST00000361170.2		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75						c.(2692-2694)atG>atT		IQ motif containing GTPase activating protein 3							174.0	127.0	143.0					1																	156510545		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156510545C>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.2694G>T	1.37:g.156510545C>A	ENSP00000354451:p.Met898Ile	False	False		Somatic	0					p.M898I	NM_178229.4	NP_839943.2	WXS	Illumina HiSeq	Phase_I	Q86VI3	IQGA3_HUMAN			23	2704	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		898					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.2694G>T	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737875	0.89573	.	.	ENSG00000183856	ENST00000361170	T	0.03035	4.07	4.8	4.8	0.61643	.	0.046269	0.85682	D	0.000000	T	0.13072	0.0317	M	0.86740	2.835	0.80722	D	1	P	0.50528	0.936	P	0.61201	0.885	T	0.00238	-1.1889	10	0.72032	D	0.01	-21.3897	15.4029	0.74855	0.0:1.0:0.0:0.0	.	898	Q86VI3	IQGA3_HUMAN	I	898	ENSP00000354451:M898I	ENSP00000354451:M898I	M	-	3	0	IQGAP3	154777169	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.647000	0.83462	2.483000	0.83821	0.655000	0.94253	ATG		0.562	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	0	NM_178229		1:156510545
EFCAB6	64800	broad.mit.edu	37	22	44127685	44127685	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:44127685C>A	ENST00000262726.7	-	8	904	c.651G>T	c.(649-651)tcG>tcT	p.S217S	EFCAB6_ENST00000396231.2_Silent_p.S65S|EFCAB6_ENST00000358439.4_Silent_p.S111S|EFCAB6_ENST00000356087.4_Silent_p.S111S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	217					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGTAGTGTTTCGAAAACCTAA	0.333																																						ENST00000262726.7		NA																	0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(649-651)tcG>tcT		EF-hand calcium binding domain 6							110.0	101.0	104.0					22																	44127685		2202	4299	6501	SO:0001819	synonymous_variant	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44127685C>A	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.651G>T	22.37:g.44127685C>A		True	False		Somatic	0				EFCAB6_ENST00000356087.4_Silent_p.S111S|EFCAB6_ENST00000396231.2_Silent_p.S65S|EFCAB6_ENST00000358439.4_Silent_p.S111S	p.S217S	NM_022785.3	NP_073622.2	WXS	Illumina HiSeq	Phase_I	Q5THR3	EFCB6_HUMAN			8	904	-		Ovarian(80;0.0247)|all_neural(38;0.025)	217					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Silent	SNP	ENST00000262726.7	37	c.651G>T	CCDS14049.1																																																																																				0.333	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	0	NM_022785		22:44127685
HMCN1	83872	broad.mit.edu	37	1	185833685	185833685	+	Silent	SNP	T	T	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:185833685T>G	ENST00000271588.4	+	3	652	c.423T>G	c.(421-423)gtT>gtG	p.V141V	HMCN1_ENST00000367492.2_Silent_p.V141V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	141	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATCTATGTTTTCACTGATG	0.438																																						ENST00000271588.4		NA																	0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(421-423)gtT>gtG		hemicentin 1							122.0	115.0	117.0					1																	185833685		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185833685T>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.423T>G	1.37:g.185833685T>G		True	False		Somatic	0				HMCN1_ENST00000367492.2_Silent_p.V141V	p.V141V	NM_031935.2	NP_114141.2	WXS	Illumina HiSeq	Phase_I	Q96RW7	HMCN1_HUMAN			3	652	+			141			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.423T>G	CCDS30956.1																																																																																				0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	0	NM_031935		1:185833685
RPS6KA6	27330	broad.mit.edu	37	X	83372157	83372157	+	Splice_Site	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chrX:83372157C>A	ENST00000262752.2	-	11	868		c.e11-1		RPS6KA6_ENST00000543399.1_Splice_Site	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6						axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AAGTTTTGCTCTGAAACAGAG	0.323																																						ENST00000262752.2		NA																	0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						c.e11-1		ribosomal protein S6 kinase, 90kDa, polypeptide 6							42.0	40.0	41.0					X																	83372157		2202	4294	6496	SO:0001630	splice_region_variant	27330				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:83372157C>A	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.861-1G>T	X.37:g.83372157C>A		False	False		Somatic	0				RPS6KA6_ENST00000543399.1_Splice_Site		NM_014496.4	NP_055311.1	WXS	Illumina HiSeq	Phase_I	Q9UK32	KS6A6_HUMAN			11	868	-			NA					B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Splice_Site	SNP	ENST00000262752.2	37		CCDS14451.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869083	0.72065	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	.	.	.	4.64	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0306	0.86460	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RPS6KA6	83258813	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.552000	0.82192	2.028000	0.59812	0.600000	0.82982	.		0.323	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	0	NM_014496	Intron	X:83372157
CST11	140880	broad.mit.edu	37	20	23433311	23433311	+	Missense_Mutation	SNP	G	G	C			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:23433311G>C	ENST00000377009.3	-	1	171	c.138C>G	c.(136-138)gaC>gaG	p.D46E	CST11_ENST00000377007.3_Missense_Mutation_p.D46E	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	46					defense response to bacterium (GO:0042742)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					ACTGCAAGCTGTCCTTCGCAT	0.473																																						ENST00000377009.3		NA																	0				kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14						c.(136-138)gaC>gaG		cystatin 11							211.0	184.0	193.0					20																	23433311		2203	4300	6503	SO:0001583	missense	140880				defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	g.chr20:23433311G>C	AL096677	CCDS13154.1, CCDS13155.1	20p11.21	2012-08-14			ENSG00000125831	ENSG00000125831			15959	protein-coding gene	gene with protein product		609731		CST8L		20565543	Standard	NM_080830		Approved	dJ322G13.6, CTES2	uc002wtf.1	Q9H112	OTTHUMG00000032060	ENST00000377009.3:c.138C>G	20.37:g.23433311G>C	ENSP00000366208:p.Asp46Glu	False	False		Somatic	0				CST11_ENST00000377007.3_Missense_Mutation_p.D46E	p.D46E	NM_130794.1	NP_570612.1	WXS	Illumina HiSeq	Phase_I	Q9H112	CST11_HUMAN			1	171	-	Colorectal(13;0.0431)|Lung NSC(19;0.235)		46					Q0VAF2|Q0VAF3|Q8WXU5|Q8WXU6|Q9H113	Missense_Mutation	SNP	ENST00000377009.3	37	c.138C>G	CCDS13155.1	.	.	.	.	.	.	.	.	.	.	G	0.034	-1.315401	0.01331	.	.	ENSG00000125831	ENST00000377009;ENST00000377007	T;T	0.20881	2.04;2.04	3.86	-7.72	0.01250	Proteinase inhibitor I25, cystatin (2);	1.801240	0.02192	N	0.061416	T	0.07188	0.0182	N	0.12182	0.205	0.09310	N	1	B;B	0.14805	0.009;0.011	B;B	0.18871	0.023;0.022	T	0.32903	-0.9889	10	0.02654	T	1	-0.6315	0.5297	0.00626	0.3409:0.2761:0.1774:0.2056	.	46;46	Q9H112-2;Q9H112	.;CST11_HUMAN	E	46	ENSP00000366208:D46E;ENSP00000366206:D46E	ENSP00000366206:D46E	D	-	3	2	CST11	23381311	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.747000	0.04823	-1.825000	0.01207	-0.142000	0.14014	GAC		0.473	CST11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078314.1	0	NM_130794		20:23433311
PPP2R5E	5529	broad.mit.edu	37	14	63881941	63881941	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr14:63881941C>A	ENST00000337537.3	-	5	1068	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	PPP2R5E_ENST00000555899.1_Nonsense_Mutation_p.E156*|PPP2R5E_ENST00000422769.2_Nonsense_Mutation_p.E80*|PPP2R5E_ENST00000553266.1_5'UTR	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	156					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		ATGAAAAATTCATATACAAGC	0.308																																						ENST00000337537.3		NA																	0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.(466-468)Gaa>Taa		protein phosphatase 2, regulatory subunit B', epsilon isoform							71.0	74.0	73.0					14																	63881941		2202	4295	6497	SO:0001587	stop_gained	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63881941C>A	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.466G>T	14.37:g.63881941C>A	ENSP00000337641:p.Glu156*	False	False		Somatic	0				PPP2R5E_ENST00000555899.1_Nonsense_Mutation_p.E156*|PPP2R5E_ENST00000422769.2_Nonsense_Mutation_p.E80*|PPP2R5E_ENST00000553266.1_5'UTR	p.E156*	NM_006246.2	NP_006237.1	WXS	Illumina HiSeq	Phase_I	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	5	1068	-			156					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Nonsense_Mutation	SNP	ENST00000337537.3	37	c.466G>T	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	C	43	10.299674	0.99378	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.5843	18.2575	0.90024	0.0:1.0:0.0:0.0	.	.	.	.	X	156;156;80	.	ENSP00000337641:E156X	E	-	1	0	PPP2R5E	62951694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.746000	0.85057	2.664000	0.90586	0.650000	0.86243	GAA		0.308	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	0	NM_006246		14:63881941
ZBP1	81030	broad.mit.edu	37	20	56189968	56189968	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:56189968G>T	ENST00000371173.3	-	4	654	c.477C>A	c.(475-477)tcC>tcA	p.S159S	ZBP1_ENST00000395822.3_Silent_p.S84S|ZBP1_ENST00000538947.1_5'Flank|ZBP1_ENST00000340462.4_Silent_p.S136S|ZBP1_ENST00000343535.4_Silent_p.S159S|ZBP1_ENST00000541799.1_Silent_p.S159S	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	159					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TCCATGCTTTGGACTGCTCAT	0.557																																						ENST00000340462.4		NA																	0				large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(406-408)tcC>tcA		Z-DNA binding protein 1							194.0	152.0	166.0					20																	56189968		2203	4300	6503	SO:0001819	synonymous_variant	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56189968G>T	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.477C>A	20.37:g.56189968G>T		True	False		Somatic	0				ZBP1_ENST00000541799.1_Silent_p.S159S|ZBP1_ENST00000343535.4_Silent_p.S159S|ZBP1_ENST00000371173.3_Silent_p.S159S|ZBP1_ENST00000395822.3_Silent_p.S84S	p.S136S			WXS	Illumina HiSeq	Phase_I	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		3	688	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		159					A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Silent	SNP	ENST00000371173.3	37	c.408C>A	CCDS13461.1																																																																																				0.557	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	0	NM_030776		20:56189968
MYO18B	84700	broad.mit.edu	37	22	26219559	26219559	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:26219559C>T	ENST00000407587.2	+	13	2778	c.2609C>T	c.(2608-2610)aCc>aTc	p.T870I	MYO18B_ENST00000335473.7_Missense_Mutation_p.T870I|MYO18B_ENST00000536101.1_Missense_Mutation_p.T870I			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	870	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.T870I(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AACACGGCCACCTTCAAGCAC	0.577																																						ENST00000335473.7		NA																	1	Substitution - Missense(1)	p.T870I(1)	prostate(1)	NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(2608-2610)aCc>aTc		myosin XVIIIB							167.0	166.0	167.0					22																	26219559		2100	4218	6318	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26219559C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2609C>T	22.37:g.26219559C>T	ENSP00000386096:p.Thr870Ile	False	False		Somatic	0				MYO18B_ENST00000536101.1_Missense_Mutation_p.T870I|MYO18B_ENST00000407587.2_Missense_Mutation_p.T870I	p.T870I	NM_032608.5	NP_115997.5	WXS	Illumina HiSeq	Phase_I	Q8IUG5	MY18B_HUMAN			13	2859	+			870			Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.2609C>T		.	.	.	.	.	.	.	.	.	.	C	13.11	2.139738	0.37728	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	T;T;T	0.69040	-0.37;-0.37;-0.37	4.73	3.47	0.39725	Myosin head, motor domain (2);	0.306844	0.29932	N	0.010821	T	0.54806	0.1881	L	0.28776	0.89	0.34621	D	0.718623	P;D;P;D	0.54207	0.708;0.965;0.946;0.957	B;P;P;P	0.52217	0.249;0.693;0.462;0.567	T	0.58864	-0.7561	10	0.13108	T	0.6	.	4.1753	0.10349	0.0:0.6771:0.0:0.3229	.	383;870;870;870	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	I	870	ENSP00000441229:T870I;ENSP00000334563:T870I;ENSP00000386096:T870I	ENSP00000334563:T870I	T	+	2	0	MYO18B	24549559	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	4.574000	0.60900	2.327000	0.79052	0.448000	0.29417	ACC		0.577	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	0	NM_032608		22:26219559
ADH1A	124	broad.mit.edu	37	4	100203666	100203666	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:100203666G>A	ENST00000209668.2	-	6	778	c.665C>T	c.(664-666)gCg>gTg	p.A222V	RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	222					alcohol metabolic process (GO:0006066)|drug metabolic process (GO:0017144)|ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Ethanol(DB00898)|Fomepizole(DB01213)	GATGTCCACCGCAATGATTCT	0.532																																						ENST00000209668.2		NA																	0				endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25						c.(664-666)gCg>gTg		alcohol dehydrogenase 1A (class I), alpha polypeptide	Fomepizole(DB01213)|NADH(DB00157)						286.0	289.0	288.0					4																	100203666		2203	4300	6503	SO:0001583	missense	124				ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding	g.chr4:100203666G>A	M12963	CCDS3648.1	4q23	2009-12-04			ENSG00000187758	ENSG00000187758	1.1.1.1	"""Alcohol dehydrogenases"""	249	protein-coding gene	gene with protein product		103700		ADH1		3006456	Standard	NM_000667		Approved		uc003hur.2	P07327	OTTHUMG00000131026	ENST00000209668.2:c.665C>T	4.37:g.100203666G>A	ENSP00000209668:p.Ala222Val	False	False		Somatic	0				RP11-696N14.1_ENST00000500358.2_RNA	p.A222V	NM_000667.3	NP_000658.1	WXS	Illumina HiSeq	Phase_I	P07327	ADH1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	6	778	-			222					A8K3E3|Q17R68	Missense_Mutation	SNP	ENST00000209668.2	37	c.665C>T	CCDS3648.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588433	0.28357	.	.	ENSG00000187758	ENST00000209668	T	0.04970	3.52	3.11	-0.519	0.11939	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.245941	0.39146	N	0.001456	T	0.19446	0.0467	M	0.74881	2.28	0.27511	N	0.951696	P;D	0.76494	0.877;0.999	B;P	0.60541	0.175;0.876	T	0.10405	-1.0631	10	0.59425	D	0.04	-7.6741	15.9733	0.80036	0.0:0.6313:0.3687:0.0	.	13;222	B4E1R1;P07327	.;ADH1A_HUMAN	V	222	ENSP00000209668:A222V	ENSP00000209668:A222V	A	-	2	0	ADH1A	100422689	0.001000	0.12720	0.529000	0.27951	0.148000	0.21650	-0.192000	0.09587	0.061000	0.16311	0.460000	0.39030	GCG		0.532	ADH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253669.1	0	NM_000667		4:100203666
BIRC6	57448	broad.mit.edu	37	2	32613902	32613902	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:32613902C>A	ENST00000421745.2	+	4	864	c.730C>A	c.(730-732)Caa>Aaa	p.Q244K		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	244					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAAAATAAATCAAAATGTTGC	0.463																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2		NA																	0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(730-732)Caa>Aaa		baculoviral IAP repeat containing 6							151.0	128.0	136.0					2																	32613902		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32613902C>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.730C>A	2.37:g.32613902C>A	ENSP00000393596:p.Gln244Lys	True	False		Somatic	0					p.Q244K	NM_016252.3	NP_057336.3	WXS	Illumina HiSeq	Phase_I	Q9NR09	BIRC6_HUMAN			4	864	+	Acute lymphoblastic leukemia(172;0.155)		244					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.730C>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970684	0.74246	.	.	ENSG00000115760	ENST00000421745	T	0.74002	-0.8	5.75	5.75	0.90469	.	0.066156	0.64402	D	0.000009	T	0.67163	0.2864	L	0.34521	1.04	0.58432	D	0.999999	P	0.48764	0.915	B	0.40940	0.344	T	0.65903	-0.6055	10	0.29301	T	0.29	.	19.9498	0.97195	0.0:1.0:0.0:0.0	.	244	Q9NR09	BIRC6_HUMAN	K	244	ENSP00000393596:Q244K	ENSP00000393596:Q244K	Q	+	1	0	BIRC6	32467406	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.715000	0.92844	0.650000	0.86243	CAA		0.463	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	0	NM_016252		2:32613902
ZC3H15	55854	broad.mit.edu	37	2	187370558	187370558	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:187370558G>T	ENST00000337859.6	+	8	1183	c.956G>T	c.(955-957)gGt>gTt	p.G319V	ZC3H15_ENST00000544130.1_Missense_Mutation_p.G114V	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	319					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CAGGGAACAGGTGGTGATGAG	0.428																																						ENST00000337859.6		NA																	0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15						c.(955-957)gGt>gTt		zinc finger CCCH-type containing 15							105.0	99.0	101.0					2																	187370558		2021	4174	6195	SO:0001583	missense	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187370558G>T		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.956G>T	2.37:g.187370558G>T	ENSP00000338788:p.Gly319Val	False	False		Somatic	0				ZC3H15_ENST00000544130.1_Missense_Mutation_p.G114V	p.G319V	NM_018471.2	NP_060941.2	WXS	Illumina HiSeq	Phase_I	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		8	1183	+			319					B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	37	c.956G>T	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032400	0.35893	.	.	ENSG00000065548	ENST00000337859;ENST00000544130;ENST00000536434	T	0.29917	1.55	5.87	5.87	0.94306	.	0.478557	0.25823	N	0.028075	T	0.21022	0.0506	N	0.22421	0.69	0.50632	D	0.999884	B	0.33583	0.418	B	0.32393	0.145	T	0.04635	-1.0937	10	0.22706	T	0.39	-16.981	13.7487	0.62894	0.0701:0.0:0.9299:0.0	.	319	Q8WU90	ZC3HF_HUMAN	V	319;114;319	ENSP00000338788:G319V	ENSP00000338788:G319V	G	+	2	0	ZC3H15	187078803	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.103000	0.64578	2.941000	0.99782	0.655000	0.94253	GGT		0.428	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2	0	NM_018471		2:187370558
AVL9	23080	broad.mit.edu	37	7	32615681	32615681	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr7:32615681C>A	ENST00000318709.4	+	13	1906	c.1685C>A	c.(1684-1686)cCa>cAa	p.P562Q	AVL9_ENST00000409301.1_Missense_Mutation_p.P562Q|AVL9_ENST00000404479.1_Intron	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	562					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GAAATAAATCCAAAGTAAGCG	0.378																																						ENST00000318709.4		NA																	0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1684-1686)cCa>cAa		AVL9 homolog (S. cerevisiase)							128.0	124.0	125.0					7																	32615681		2203	4300	6503	SO:0001583	missense	23080					integral to membrane		g.chr7:32615681C>A	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1685C>A	7.37:g.32615681C>A	ENSP00000315568:p.Pro562Gln	True	False		Somatic	0				AVL9_ENST00000404479.1_Intron|AVL9_ENST00000409301.1_Missense_Mutation_p.P562Q	p.P562Q	NM_015060.1	NP_055875.1	WXS	Illumina HiSeq	Phase_I	Q8NBF6	AVL9_HUMAN			13	1906	+			562					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.1685C>A	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	C	33	5.252531	0.95336	.	.	ENSG00000105778	ENST00000318709;ENST00000409301	T;T	0.54279	0.58;0.6	5.73	5.73	0.89815	.	0.055360	0.64402	D	0.000001	T	0.64702	0.2622	M	0.73217	2.22	0.80722	D	1	D	0.57899	0.981	P	0.49752	0.621	T	0.68697	-0.5340	10	0.72032	D	0.01	-21.0103	19.904	0.97001	0.0:1.0:0.0:0.0	.	562	Q8NBF6	AVL9_HUMAN	Q	562	ENSP00000315568:P562Q;ENSP00000387011:P562Q	ENSP00000315568:P562Q	P	+	2	0	AVL9	32582206	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.521000	0.81832	2.689000	0.91719	0.655000	0.94253	CCA		0.378	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	0	NM_015060		7:32615681
ATP10A	57194	broad.mit.edu	37	15	25928570	25928570	+	Missense_Mutation	SNP	C	C	G			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:25928570C>G	ENST00000356865.6	-	17	3466	c.3355G>C	c.(3355-3357)Gac>Cac	p.D1119H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1119					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TACCACTGGTCAATCATGGTA	0.502																																						ENST00000356865.6		NA																	0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(3355-3357)Gac>Cac		ATPase, class V, type 10A							83.0	81.0	81.0					15																	25928570		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25928570C>G	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3355G>C	15.37:g.25928570C>G	ENSP00000349325:p.Asp1119His	False	False		Somatic	0					p.D1119H	NM_024490.3	NP_077816.1	WXS	Illumina HiSeq	Phase_I	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	17	3466	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1119					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3355G>C	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.693762	0.88735	.	.	ENSG00000206190	ENST00000356865	T	0.42131	0.98	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83740	0.0203	10	0.87932	D	0	-36.8332	17.8828	0.88845	0.0:1.0:0.0:0.0	.	1119	O60312	AT10A_HUMAN	H	1119	ENSP00000349325:D1119H	ENSP00000349325:D1119H	D	-	1	0	ATP10A	23479663	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.511000	0.81718	2.205000	0.71048	0.655000	0.94253	GAC		0.502	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	0	NM_024490		15:25928570
CRIM1	51232	broad.mit.edu	37	2	36669819	36669819	+	Silent	SNP	G	G	T	rs200502210		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:36669819G>T	ENST00000280527.2	+	4	1177	c.810G>T	c.(808-810)ccG>ccT	p.P270P		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	270					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CGTGTCCCCCGGACAGCTATG	0.478																																						ENST00000280527.2		NA																	0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45						c.(808-810)ccG>ccT		cysteine rich transmembrane BMP regulator 1 (chordin-like)							169.0	149.0	156.0					2																	36669819		2203	4300	6503	SO:0001819	synonymous_variant	51232				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity	g.chr2:36669819G>T	AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.810G>T	2.37:g.36669819G>T		True	False		Somatic	0					p.P270P	NM_016441.2	NP_057525.1	WXS	Illumina HiSeq	Phase_I	Q9NZV1	CRIM1_HUMAN			4	1177	+		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)	270					Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	ENST00000280527.2	37	c.810G>T	CCDS1783.1																																																																																				0.478	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216878.2	0	NM_016441		2:36669819
PUS3	83480	broad.mit.edu	37	11	125766014	125766014	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:125766014C>A	ENST00000530811.1	-	1	211	c.166G>T	c.(166-168)Gat>Tat	p.D56Y	HYLS1_ENST00000526028.1_Intron|PUS3_ENST00000227474.3_Missense_Mutation_p.D56Y|HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000356438.3_Intron			Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	56					tRNA pseudouridine synthesis (GO:0031119)	nucleus (GO:0005634)	pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		GCACTGAAATCAAATGCACGC	0.433																																						ENST00000227474.3		NA																	0				NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10						c.(166-168)Gat>Tat		pseudouridylate synthase 3							222.0	216.0	218.0					11																	125766014		2201	4299	6500	SO:0001583	missense	83480					nucleus	RNA binding	g.chr11:125766014C>A	BC004822	CCDS8466.1, CCDS73411.1	11q24.2	2008-02-05							25461	protein-coding gene	gene with protein product						12477932	Standard	NM_031307		Approved	FKSG32	uc001qcy.2	Q9BZE2		ENST00000530811.1:c.166G>T	11.37:g.125766014C>A	ENSP00000432386:p.Asp56Tyr	True	False		Somatic	0				HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000530811.1_Missense_Mutation_p.D56Y|HYLS1_ENST00000425380.2_Intron	p.D56Y	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	WXS	Illumina HiSeq	Phase_I	Q9BZE2	PUS3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)	2	263	-	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	56					B2RAM0|Q96D17|Q96J23|Q96NB4	Missense_Mutation	SNP	ENST00000530811.1	37	c.166G>T	CCDS8466.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067535	0.76301	.	.	ENSG00000110060	ENST00000227474;ENST00000530811;ENST00000534158;ENST00000529801	T;T;T;T	0.61040	1.01;1.01;0.14;1.08	6.17	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.74619	0.3740	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.76280	-0.3017	10	0.87932	D	0	-16.7308	15.9972	0.80260	0.0:0.935:0.0:0.065	.	56	Q9BZE2	PUS3_HUMAN	Y	56	ENSP00000227474:D56Y;ENSP00000432386:D56Y;ENSP00000432272:D56Y;ENSP00000437077:D56Y	ENSP00000227474:D56Y	D	-	1	0	PUS3	125271224	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.462000	0.66707	2.941000	0.99782	0.655000	0.94253	GAT		0.433	PUS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386783.1	0	NM_031307		11:125766014
CCDC88A	55704	broad.mit.edu	37	2	55570840	55570840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:55570840G>T	ENST00000436346.1	-	12	2118	c.1277C>A	c.(1276-1278)tCa>tAa	p.S426*	CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.S426*|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.S426*|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.S426*|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	426					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AAGATGTAATGATTCATCCAT	0.318																																						ENST00000436346.1		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(1276-1278)tCa>tAa		coiled-coil domain containing 88A							132.0	127.0	129.0					2																	55570840		2203	4300	6503	SO:0001587	stop_gained	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55570840G>T	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1277C>A	2.37:g.55570840G>T	ENSP00000410608:p.Ser426*	False	False		Somatic	0				CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.S426*|CCDC88A_ENST00000413716.2_Nonsense_Mutation_p.S426*|CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.S426*|AC012358.8_ENST00000594078.1_RNA	p.S426*	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	WXS	Illumina HiSeq	Phase_I	Q3V6T2	GRDN_HUMAN			12	2118	-			426					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Nonsense_Mutation	SNP	ENST00000436346.1	37	c.1277C>A		.	.	.	.	.	.	.	.	.	.	G	40	8.219217	0.98712	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	.	.	.	5.91	5.91	0.95273	.	0.000000	0.39475	U	0.001343	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3066	20.3011	0.98612	0.0:0.0:1.0:0.0	.	.	.	.	X	426	.	ENSP00000263630:S426X	S	-	2	0	CCDC88A	55424344	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.378000	0.97191	2.804000	0.96469	0.650000	0.86243	TCA		0.318	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		0	NM_017571		2:55570840
VPS13C	54832	broad.mit.edu	37	15	62173113	62173113	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:62173113C>A	ENST00000261517.5	-	72	9890	c.9817G>T	c.(9817-9819)Gat>Tat	p.D3273Y	VPS13C_ENST00000395896.4_Missense_Mutation_p.D3273Y|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000249837.3_Missense_Mutation_p.D3230Y|VPS13C_ENST00000395898.3_Missense_Mutation_p.D3230Y	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AACCCTTGATCAATTTTTAAG	0.318																																						ENST00000261517.5		NA																	0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(9817-9819)Gat>Tat		vacuolar protein sorting 13 homolog C (S. cerevisiae)							55.0	59.0	58.0					15																	62173113		2202	4298	6500	SO:0001583	missense	54832				protein localization			g.chr15:62173113C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.9817G>T	15.37:g.62173113C>A	ENSP00000261517:p.Asp3273Tyr	False	False		Somatic	0				VPS13C_ENST00000249837.3_Missense_Mutation_p.D3230Y|VPS13C_ENST00000395898.3_Missense_Mutation_p.D3230Y|VPS13C_ENST00000558919.1_5'UTR|VPS13C_ENST00000395896.4_Missense_Mutation_p.D3273Y	p.D3273Y	NM_020821.2	NP_065872.1	WXS	Illumina HiSeq	Phase_I	Q709C8	VP13C_HUMAN			72	9890	-			3273						Missense_Mutation	SNP	ENST00000261517.5	37	c.9817G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286607	0.80803	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	D;D;D	0.84370	-1.84;-1.84;-1.84	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	M	0.86097	2.795	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93947	0.7228	10	0.87932	D	0	.	19.7126	0.96102	0.0:1.0:0.0:0.0	.	3230;3273;3230;3273	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	Y	3230;3273;3273;3273	ENSP00000249837:D3230Y;ENSP00000261517:D3273Y;ENSP00000379233:D3273Y	ENSP00000249837:D3230Y	D	-	1	0	VPS13C	59960405	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.454000	0.80714	2.664000	0.90586	0.650000	0.86243	GAT		0.318	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	0	NM_017684		15:62173113
CADM1	23705	broad.mit.edu	37	11	115085351	115085351	+	Nonsense_Mutation	SNP	G	G	T	rs376941564		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr11:115085351G>T	ENST00000452722.3	-	7	991	c.971C>A	c.(970-972)tCg>tAg	p.S324*	CADM1_ENST00000542447.2_Nonsense_Mutation_p.S324*|CADM1_ENST00000331581.6_Nonsense_Mutation_p.S324*|CADM1_ENST00000536727.1_Nonsense_Mutation_p.S324*|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Nonsense_Mutation_p.S324*	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CATATAATCCGAGTGAGCTTT	0.423																																						ENST00000542447.2		NA																	0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(970-972)tCg>tAg		cell adhesion molecule 1							222.0	199.0	207.0					11																	115085351		2201	4296	6497	SO:0001587	stop_gained	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115085351G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.971C>A	11.37:g.115085351G>T	ENSP00000395359:p.Ser324*	False	False		Somatic	0				CADM1_ENST00000537058.1_Nonsense_Mutation_p.S324*|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Nonsense_Mutation_p.S324*|CADM1_ENST00000536727.1_Nonsense_Mutation_p.S324*|CADM1_ENST00000452722.2_Nonsense_Mutation_p.S324*	p.S324*	NM_001098517.1	NP_001091987.1	WXS	Illumina HiSeq	Phase_I	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	7	1099	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	324			Ig-like C2-type 2.			Nonsense_Mutation	SNP	ENST00000452722.3	37	c.971C>A	CCDS8373.1	.	.	.	.	.	.	.	.	.	.	G	36	5.707897	0.96821	.	.	ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581	.	.	.	5.62	5.62	0.85841	.	0.132015	0.49916	D	0.000133	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	19.6764	0.95936	0.0:0.0:1.0:0.0	.	.	.	.	X	324;324;324;324;283;324	.	ENSP00000329797:S324X	S	-	2	0	CADM1	114590561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.968000	0.56809	2.660000	0.90430	0.655000	0.94253	TCG		0.423	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	0	NM_014333		11:115085351
NACA2	342538	broad.mit.edu	37	17	59668349	59668349	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr17:59668349C>A	ENST00000521764.1	-	1	214	c.193G>T	c.(193-195)Ggt>Tgt	p.G65C		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	65					myoblast migration (GO:0051451)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					TTTGCTTTACCGACTGGTTCT	0.483																																						ENST00000521764.1		NA																	0				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(193-195)Ggt>Tgt		nascent polypeptide-associated complex alpha subunit 2							188.0	171.0	177.0					17																	59668349		2203	4300	6503	SO:0001583	missense	342538				protein transport	cytoplasm|nucleus		g.chr17:59668349C>A	BC062710	CCDS11630.1	17q23.3	2014-01-28	2007-04-20	2007-04-20		ENSG00000253506			23290	protein-coding gene	gene with protein product	"""alpha-NAC protein"""	609274	"""nascent-polypeptide-associated complex alpha polypeptide-like"""	NACAL		12406326	Standard	NM_199290		Approved	MGC71999	uc002izj.2	Q9H009		ENST00000521764.1:c.193G>T	17.37:g.59668349C>A	ENSP00000427802:p.Gly65Cys	False	False		Somatic	0					p.G65C	NM_199290.3	NP_954984.1	WXS	Illumina HiSeq	Phase_I	Q9H009	NACA2_HUMAN			1	214	-	all_epithelial(1;3.12e-14)		65					Q2VIR9	Missense_Mutation	SNP	ENST00000521764.1	37	c.193G>T	CCDS11630.1	.	.	.	.	.	.	.	.	.	.	T	14.35	2.508495	0.44660	.	.	ENSG00000253506	ENST00000521764	T	0.45276	0.9	0.753	-0.473	0.12112	.	0.000000	0.85682	U	0.000000	T	0.16896	0.0406	N	0.08118	0	0.21220	N	0.999753	B	0.24317	0.101	B	0.24269	0.052	T	0.19321	-1.0309	9	.	.	.	.	5.1442	0.14975	0.0:0.4225:0.0:0.5775	.	65	Q9H009	NACA2_HUMAN	C	65	ENSP00000427802:G65C	.	G	-	1	0	NACA2	57023131	1.000000	0.71417	0.972000	0.41901	0.763000	0.43281	2.566000	0.45948	-0.880000	0.03997	-0.684000	0.03749	GGT		0.483	NACA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255437.2	0	NM_199290		17:59668349
TUBA3E	112714	broad.mit.edu	37	2	130949696	130949696	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr2:130949696C>T	ENST00000312988.7	-	5	1161	c.1061G>A	c.(1060-1062)gGc>gAc	p.G354D		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	354					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GTAGTTAATGCCCACCTGCCA	0.572																																						ENST00000312988.7		NA																	0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(1060-1062)gGc>gAc		tubulin, alpha 3e							36.0	38.0	37.0					2																	130949696		2202	4300	6502	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130949696C>T	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.1061G>A	2.37:g.130949696C>T	ENSP00000318197:p.Gly354Asp	True	False		Somatic	0					p.G354D	NM_207312.2	NP_997195.1	WXS	Illumina HiSeq	Phase_I	Q6PEY2	TBA3E_HUMAN			5	1161	-	Colorectal(110;0.1)		354						Missense_Mutation	SNP	ENST00000312988.7	37	c.1061G>A	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	14.23	2.473840	0.43942	.	.	ENSG00000152086	ENST00000312988	D	0.84873	-1.91	2.96	2.96	0.34315	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.49916	U	0.000137	D	0.94212	0.8142	H	0.99535	4.615	0.53688	D	0.999973	P	0.39216	0.664	P	0.51550	0.673	D	0.95347	0.8443	10	0.87932	D	0	.	11.6912	0.51516	0.0:1.0:0.0:0.0	.	354	Q6PEY2	TBA3E_HUMAN	D	354	ENSP00000318197:G354D	ENSP00000318197:G354D	G	-	2	0	TUBA3E	130666166	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	5.399000	0.66314	1.668000	0.50843	0.455000	0.32223	GGC		0.572	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	0	NM_207312		2:130949696
IKBIP	121457	broad.mit.edu	37	12	99020248	99020248	+	Intron	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:99020248G>T	ENST00000342502.2	-	2	709				IKBIP_ENST00000299157.4_Silent_p.L198L|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						GCCGTTCAGTGAGCAATTTTA	0.348																																						ENST00000299157.4		NA																	0				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						c.(592-594)ctC>ctA		IKBKB interacting protein							149.0	143.0	145.0					12																	99020248		2203	4300	6503	SO:0001627	intron_variant	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99020248G>T	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+7825C>A	12.37:g.99020248G>T		False	False		Somatic	0				IKBIP_ENST00000342502.2_Intron|IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000420861.1_Intron	p.L198L	NM_153687.3	NP_710154.1	WXS	Illumina HiSeq	Phase_I	Q70UQ0	IKIP_HUMAN			3	967	-			199					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Silent	SNP	ENST00000342502.2	37	c.594C>A	CCDS9067.1																																																																																				0.348	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	0	NM_153687		12:99020248
MGAT3	4248	broad.mit.edu	37	22	39884636	39884636	+	Silent	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr22:39884636C>T	ENST00000341184.6	+	2	1499	c.1284C>T	c.(1282-1284)atC>atT	p.I428I		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	428					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCGAGGGCATCTACTTCAAGC	0.652																																						ENST00000341184.6		NA																	0				endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24						c.(1282-1284)atC>atT		mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase							55.0	52.0	53.0					22																	39884636		2203	4300	6503	SO:0001819	synonymous_variant	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884636C>T	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1284C>T	22.37:g.39884636C>T		False	False		Somatic	0					p.I428I	NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	WXS	Illumina HiSeq	Phase_I	Q09327	MGAT3_HUMAN			2	1499	+	Melanoma(58;0.04)		428					A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	c.1284C>T	CCDS13994.2																																																																																				0.652	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	0	NM_002409		22:39884636
FREM2	341640	broad.mit.edu	37	13	39451286	39451286	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr13:39451286G>T	ENST00000280481.7	+	21	8793	c.8577G>T	c.(8575-8577)ttG>ttT	p.L2859F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2859					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGTTTAGCTTGAACACCCAAA	0.438																																						ENST00000280481.7		NA																	0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(8575-8577)ttG>ttT		FRAS1 related extracellular matrix protein 2							279.0	243.0	255.0					13																	39451286		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39451286G>T	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8577G>T	13.37:g.39451286G>T	ENSP00000280481:p.Leu2859Phe	False	False		Somatic	0					p.L2859F	NM_207361.4	NP_997244.3	WXS	Illumina HiSeq	Phase_I	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	21	8793	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2859					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.8577G>T	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700345	0.68501	.	.	ENSG00000150893	ENST00000280481	T	0.66995	-0.24	5.92	3.07	0.35406	.	0.000000	0.64402	D	0.000003	D	0.82999	0.5159	M	0.89095	3.005	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	D	0.85672	0.1295	10	0.87932	D	0	.	12.8854	0.58040	0.0:0.454:0.428:0.1181	.	2859	Q5SZK8	FREM2_HUMAN	F	2859	ENSP00000280481:L2859F	ENSP00000280481:L2859F	L	+	3	2	FREM2	38349286	0.987000	0.35691	1.000000	0.80357	0.972000	0.66771	0.140000	0.16056	0.821000	0.34540	0.467000	0.42956	TTG		0.438	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	0	NM_207361		13:39451286
FRYL	285527	broad.mit.edu	37	4	48503669	48503669	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr4:48503669G>T	ENST00000503238.1	-	59	8562	c.8563C>A	c.(8563-8565)Caa>Aaa	p.Q2855K	FRYL_ENST00000264319.7_Missense_Mutation_p.Q245K|FRYL_ENST00000537810.1_Missense_Mutation_p.Q2855K|FRYL_ENST00000507873.2_Missense_Mutation_p.Q245K|FRYL_ENST00000358350.4_Missense_Mutation_p.Q2855K			O94915	FRYL_HUMAN	FRY-like	2855					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GTATTTACTTGGTTGATAAGT	0.294																																						ENST00000537810.1		NA																	0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(8563-8565)Caa>Aaa		FRY-like							168.0	165.0	166.0					4																	48503669		1810	4078	5888	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48503669G>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.8563C>A	4.37:g.48503669G>T	ENSP00000426064:p.Gln2855Lys	False	False		Somatic	0				FRYL_ENST00000507873.2_Missense_Mutation_p.Q245K|FRYL_ENST00000264319.7_Missense_Mutation_p.Q245K|FRYL_ENST00000503238.1_Missense_Mutation_p.Q2855K|FRYL_ENST00000358350.4_Missense_Mutation_p.Q2855K	p.Q2855K			WXS	Illumina HiSeq	Phase_I	O94915	FRYL_HUMAN			62	9167	-			2855					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.8563C>A	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	G	7.661	0.684944	0.14973	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000264319;ENST00000507873	T;T;T	0.23348	1.91;1.91;1.91	5.45	5.45	0.79879	.	0.158893	0.41396	U	0.000881	T	0.26340	0.0643	L	0.47716	1.5	0.49483	D	0.999798	B;B;B	0.24092	0.032;0.097;0.0	B;B;B	0.24701	0.025;0.055;0.001	T	0.06734	-1.0810	10	0.13853	T	0.58	.	19.6539	0.95828	0.0:0.0:1.0:0.0	.	2855;2855;245	O94915;F5GX82;O94915-2	FRYL_HUMAN;.;.	K	2855;2855;2855;245;245	ENSP00000426064:Q2855K;ENSP00000351113:Q2855K;ENSP00000441114:Q2855K	ENSP00000264319:Q245K	Q	-	1	0	FRYL	48198426	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.566000	0.60843	2.719000	0.93026	0.484000	0.47621	CAA		0.294	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2	0			4:48503669
KIF5B	3799	broad.mit.edu	37	10	32323665	32323665	+	Missense_Mutation	SNP	C	C	A	rs141896420		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:32323665C>A	ENST00000302418.4	-	11	1521	c.1064G>T	c.(1063-1065)cGg>cTg	p.R355L		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	355					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				AATAGTGTTCCGCAGGATCTT	0.338			T	"""RET, ALK"""	NSCLC																																	ENST00000302418.4		NA		Dom	yes		10	10p11.22	3799	T	kinesin family member 5B			E	"""RET, ALK"""		NSCLC	KIF5B/ALK(8)|KIF5B/RET(79)	0				NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35						c.(1063-1065)cGg>cTg		kinesin family member 5B							66.0	63.0	64.0					10																	32323665		2203	4299	6502	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32323665C>A	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1064G>T	10.37:g.32323665C>A	ENSP00000307078:p.Arg355Leu	False	False		Somatic	0					p.R355L	NM_004521.2	NP_004512.1	WXS	Illumina HiSeq	Phase_I	P33176	KINH_HUMAN			11	1521	-		Prostate(175;0.0137)	355					A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.1064G>T	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853165	0.51270	.	.	ENSG00000170759	ENST00000302418	D	0.87809	-2.3	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.83922	0.5359	L	0.44542	1.39	0.45403	D	0.998389	B	0.23854	0.092	B	0.23852	0.049	T	0.79327	-0.1849	10	0.28530	T	0.3	.	18.8538	0.92242	0.0:1.0:0.0:0.0	.	355	P33176	KINH_HUMAN	L	355	ENSP00000307078:R355L	ENSP00000307078:R355L	R	-	2	0	KIF5B	32363671	0.978000	0.34361	1.000000	0.80357	0.957000	0.61999	2.608000	0.46308	2.435000	0.82474	0.563000	0.77884	CGG		0.338	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	0	NM_004521		10:32323665
VCPIP1	80124	broad.mit.edu	37	8	67577681	67577681	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:67577681C>A	ENST00000310421.4	-	1	1771	c.1513G>T	c.(1513-1515)Gac>Tac	p.D505Y	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	505					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TAATTTTTGTCAGTCCTCAGC	0.433																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4		NA																	0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1513-1515)Gac>Tac		valosin containing protein (p97)/p47 complex interacting protein 1							164.0	172.0	169.0					8																	67577681		2203	4300	6503	SO:0001583	missense	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67577681C>A	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.1513G>T	8.37:g.67577681C>A	ENSP00000309031:p.Asp505Tyr	False	False		Somatic	0					p.D505Y	NM_025054.4	NP_079330.2	WXS	Illumina HiSeq	Phase_I	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	1771	-		Lung NSC(129;0.142)|all_lung(136;0.227)	505					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Missense_Mutation	SNP	ENST00000310421.4	37	c.1513G>T	CCDS6192.1	.	.	.	.	.	.	.	.	.	.	C	16.21	3.058413	0.55325	.	.	ENSG00000175073	ENST00000310421	T	0.34275	1.37	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.56645	0.1999	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.57665	-0.7772	10	0.62326	D	0.03	-10.4364	18.9562	0.92659	0.0:1.0:0.0:0.0	.	505	Q96JH7	VCIP1_HUMAN	Y	505	ENSP00000309031:D505Y	ENSP00000309031:D505Y	D	-	1	0	VCPIP1	67740235	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.459000	0.83118	0.655000	0.94253	GAC		0.433	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1	0			8:67577681
POP1	10940	broad.mit.edu	37	8	99142441	99142441	+	Missense_Mutation	SNP	G	G	A	rs148502433		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr8:99142441G>A	ENST00000401707.2	+	5	803	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	POP1_ENST00000349693.3_Missense_Mutation_p.R241Q	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)	241					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)			ATGACGAACCGGTGCCTCCTG	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		15993	0.0		0.001	False		,,,				2504	0.0					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.(721-723)cGg>cAg		processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	75.0	74.0	74.0		722,722,722	-1.7	0.0	8	dbSNP_134	74	2,8596		0,2,4297	yes	missense,missense,missense	POP1	NM_001145860.1,NM_001145861.1,NM_015029.2	43,43,43	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign,benign,benign	241/1025,241/1025,241/1025	99142441	2,13002	2203	4299	6502	SO:0001583	missense	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.chr8:99142441G>A	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.722G>A	8.37:g.99142441G>A	ENSP00000385787:p.Arg241Gln	False	False		Somatic	0				POP1_ENST00000349693.3_Missense_Mutation_p.R241Q	p.R241Q	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)		5	803	+	Breast(36;1.78e-06)		241					A8K5W9|Q15037	Missense_Mutation	SNP	ENST00000401707.2	37	c.722G>A	CCDS6277.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.70	1.424994	0.25639	0.0	2.33E-4	ENSG00000104356	ENST00000401707;ENST00000349693	T;T	0.41758	0.99;0.99	5.91	-1.73	0.08081	Ribonuclease P/MRP, subunit POP1 (1);	0.441265	0.23766	N	0.044766	T	0.20170	0.0485	L	0.28400	0.85	0.09310	N	1	B	0.22851	0.076	B	0.22753	0.041	T	0.06917	-1.0800	9	.	.	.	-14.9496	0.3734	0.00383	0.3481:0.131:0.2675:0.2534	.	241	Q99575	POP1_HUMAN	Q	241	ENSP00000385787:R241Q;ENSP00000339529:R241Q	.	R	+	2	0	POP1	99211617	0.044000	0.20184	0.001000	0.08648	0.221000	0.24807	1.582000	0.36568	-0.185000	0.10550	-0.176000	0.13171	CGG		0.498	POP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379470.1	0	NM_015029		8:99142441
CATSPERD	257062	broad.mit.edu	37	19	5748182	5748182	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:5748182G>T	ENST00000381624.3	+	10	881	c.820G>T	c.(820-822)Gac>Tac	p.D274Y	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	274					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											TCAGCTCGTCGACACCGTCCG	0.547																																						ENST00000381624.3		NA																	0					NA						c.(820-822)Gac>Tac		catsper channel auxiliary subunit delta							90.0	96.0	94.0					19																	5748182		1995	4159	6154	SO:0001583	missense	257062					integral to membrane		g.chr19:5748182G>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.820G>T	19.37:g.5748182G>T	ENSP00000371037:p.Asp274Tyr	False	False		Somatic	0				CATSPERD_ENST00000381614.2_5'UTR	p.D274Y	NM_152784.3	NP_689997.3	WXS	Illumina HiSeq	Phase_I	Q86XM0	TM146_HUMAN			10	881	+			274					Q6ZRP1	Missense_Mutation	SNP	ENST00000381624.3	37	c.820G>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	9.292	1.050834	0.19827	.	.	ENSG00000174898	ENST00000394548;ENST00000381624	T	0.23552	1.9	3.0	-6.0	0.02206	.	2.349280	0.02331	N	0.073899	T	0.14270	0.0345	L	0.27053	0.805	0.09310	N	0.999998	B	0.26258	0.145	B	0.23716	0.048	T	0.08764	-1.0706	10	0.49607	T	0.09	-2.0981	0.5168	0.00605	0.3854:0.13:0.2226:0.262	.	274	Q86XM0	TM146_HUMAN	Y	200;274	ENSP00000371037:D274Y	ENSP00000371037:D274Y	D	+	1	0	TMEM146	5699182	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.579000	0.05834	-1.819000	0.01216	-0.181000	0.13052	GAC		0.547	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	0	NM_152784		19:5748182
RASSF9	9182	broad.mit.edu	37	12	86198780	86198780	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:86198780C>A	ENST00000361228.3	-	2	1376	c.1008G>T	c.(1006-1008)ttG>ttT	p.L336F		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	336					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGATGCCACTCAAATGAGAGT	0.378																																						ENST00000361228.3		NA																	0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1006-1008)ttG>ttT		Ras association (RalGDS/AF-6) domain family (N-terminal) member 9							177.0	180.0	179.0					12																	86198780		1850	4088	5938	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86198780C>A		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.1008G>T	12.37:g.86198780C>A	ENSP00000354884:p.Leu336Phe	True	False		Somatic	0					p.L336F	NM_005447.3	NP_005438.2	WXS	Illumina HiSeq	Phase_I	O75901	RASF9_HUMAN			2	1376	-			336					B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.1008G>T	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.511967	0.27036	.	.	ENSG00000198774	ENST00000361228	T	0.55413	0.52	4.9	3.99	0.46301	.	0.372072	0.25205	U	0.032355	T	0.31104	0.0786	N	0.12746	0.255	0.35678	D	0.813822	P	0.35793	0.521	B	0.33121	0.158	T	0.45381	-0.9265	10	0.52906	T	0.07	-14.4116	9.0819	0.36556	0.147:0.774:0.0:0.0789	.	336	O75901	RASF9_HUMAN	F	336	ENSP00000354884:L336F	ENSP00000354884:L336F	L	-	3	2	RASSF9	84722911	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.819000	0.27308	2.419000	0.82065	0.650000	0.86243	TTG		0.378	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1	0			12:86198780
GON4L	54856	broad.mit.edu	37	1	155743000	155743000	+	Splice_Site	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:155743000C>A	ENST00000368331.1	-	18	2400	c.2352G>T	c.(2350-2352)gcG>gcT	p.A784A	GON4L_ENST00000361040.5_Splice_Site_p.A784A|GON4L_ENST00000437809.1_Splice_Site_p.A784A|GON4L_ENST00000271883.5_Splice_Site_p.A784A|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	784					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAAATTCATTCGCTATAAGAA	0.408																																						ENST00000437809.1		NA																	0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.e18-1		gon-4-like (C. elegans)							74.0	72.0	73.0					1																	155743000		2203	4300	6503	SO:0001630	splice_region_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155743000C>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.2351-1G>T	1.37:g.155743000C>A		True	False		Somatic	0				GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000271883.5_Splice_Site_p.A784_splice|GON4L_ENST00000361040.5_Splice_Site_p.A784_splice|GON4L_ENST00000368331.1_Splice_Site_p.A784_splice	p.A784_splice			WXS	Illumina HiSeq	Phase_I	Q3T8J9	GON4L_HUMAN			18	2474	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		784					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Splice_Site	SNP	ENST00000368331.1	37	c.2350_splice																																																																																					0.408	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	NM_032292	Silent	1:155743000
ZFP82	284406	broad.mit.edu	37	19	36883858	36883858	+	Missense_Mutation	SNP	G	G	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr19:36883858G>A	ENST00000392161.3	-	5	1626	c.1384C>T	c.(1384-1386)Cgc>Tgc	p.R462C	ZFP82_ENST00000392171.1_Missense_Mutation_p.R462C	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	462					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)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTTTTTGGCGCAATCTAAAG	0.398																																						ENST00000392161.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1384-1386)Cgc>Tgc		ZFP82 zinc finger protein							104.0	100.0	101.0					19																	36883858		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36883858G>A	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1384C>T	19.37:g.36883858G>A	ENSP00000431265:p.Arg462Cys	False	False		Somatic	0				ZFP82_ENST00000392171.1_Missense_Mutation_p.R462C	p.R462C	NM_133466.2	NP_597723.1	WXS	Illumina HiSeq	Phase_I	Q8N141	ZFP82_HUMAN			5	1626	-			462					Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.1384C>T	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.517462	0.27123	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.08634	3.07;3.07	4.2	3.12	0.35913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38326	N	0.001727	T	0.11623	0.0283	M	0.68952	2.095	0.09310	N	1	D	0.63880	0.993	P	0.47626	0.552	T	0.13872	-1.0493	10	0.42905	T	0.14	.	5.1118	0.14813	0.1064:0.0:0.6852:0.2084	.	462	Q8N141	ZFP82_HUMAN	C	462	ENSP00000431265:R462C;ENSP00000446080:R462C	ENSP00000431265:R462C	R	-	1	0	ZFP82	41575698	0.000000	0.05858	1.000000	0.80357	0.950000	0.60333	-0.160000	0.10041	1.081000	0.41110	0.591000	0.81541	CGC		0.398	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2	0	NM_133466		19:36883858
ZNF311	282890	broad.mit.edu	37	6	28963821	28963821	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:28963821G>T	ENST00000377179.3	-	7	1470	c.958C>A	c.(958-960)Cga>Aga	p.R320R	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	320					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)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TTTTTATGTCGGCAAAGAGCT	0.493																																						ENST00000377179.3		NA																	0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(958-960)Cga>Aga		zinc finger protein 311							74.0	66.0	69.0					6																	28963821		1511	2709	4220	SO:0001819	synonymous_variant	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28963821G>T	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.958C>A	6.37:g.28963821G>T		False	False		Somatic	0				ZNF311_ENST00000483450.1_5'UTR	p.R320R	NM_001010877.2	NP_001010877.2	WXS	Illumina HiSeq	Phase_I	Q5JNZ3	ZN311_HUMAN			7	1470	-			320					A2BFK5|B0S7Y4|Q92971	Silent	SNP	ENST00000377179.3	37	c.958C>A	CCDS34357.1																																																																																				0.493	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	0	XM_212581		6:28963821
ABCC10	89845	broad.mit.edu	37	6	43415482	43415482	+	Silent	SNP	C	C	A	rs139000750		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:43415482C>A	ENST00000372530.4	+	18	3981	c.3766C>A	c.(3766-3768)Cgg>Agg	p.R1256R	ABCC10_ENST00000244533.3_Silent_p.R1228R	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1256	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	GTTGGCGTACCGGCCAGGGCT	0.667																																						ENST00000244533.3		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(3682-3684)Cgg>Agg		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							142.0	147.0	146.0					6																	43415482		2203	4300	6503	SO:0001819	synonymous_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43415482C>A	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3766C>A	6.37:g.43415482C>A		False	False		Somatic	0				ABCC10_ENST00000372530.4_Silent_p.R1256R	p.R1228R	NM_033450.2	NP_258261.2	WXS	Illumina HiSeq	Phase_I	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		16	4041	+	all_lung(25;0.00536)		1256					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.3682C>A	CCDS56430.1																																																																																				0.667	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	0	NM_033450		6:43415482
ADNP	23394	broad.mit.edu	37	20	49518611	49518611	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr20:49518611C>A	ENST00000396029.3	-	4	711	c.144G>T	c.(142-144)ttG>ttT	p.L48F	ADNP_ENST00000396032.3_Missense_Mutation_p.L48F|ADNP_ENST00000349014.3_Missense_Mutation_p.L48F|ADNP_ENST00000371602.4_Missense_Mutation_p.L48F	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	48					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TAGTGTTTTTCAAATAAAAGT	0.383																																						ENST00000396029.3		NA																	0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(142-144)ttG>ttT		activity-dependent neuroprotector homeobox							141.0	140.0	140.0					20																	49518611		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49518611C>A	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.144G>T	20.37:g.49518611C>A	ENSP00000379346:p.Leu48Phe	True	False		Somatic	0				ADNP_ENST00000371602.4_Missense_Mutation_p.L48F|ADNP_ENST00000396032.3_Missense_Mutation_p.L48F|ADNP_ENST00000349014.3_Missense_Mutation_p.L48F	p.L48F	NM_015339.2	NP_056154.1	WXS	Illumina HiSeq	Phase_I	Q9H2P0	ADNP_HUMAN			4	711	-			48					E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.144G>T	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.268318	0.23136	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032;ENST00000534467	T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66	6.17	6.17	0.99709	.	0.210963	0.44483	D	0.000449	T	0.50837	0.1639	N	0.04090	-0.28	0.42869	D	0.994132	P	0.48911	0.917	B	0.43478	0.421	T	0.54296	-0.8315	9	.	.	.	-19.1599	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	48	Q9H2P0	ADNP_HUMAN	F	48	ENSP00000360662:L48F;ENSP00000342905:L48F;ENSP00000379346:L48F;ENSP00000379349:L48F;ENSP00000436181:L48F	.	L	-	3	2	ADNP	48952018	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.496000	0.35638	2.941000	0.99782	0.655000	0.94253	TTG		0.383	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	0	NM_181442		20:49518611
CLSPN	63967	broad.mit.edu	37	1	36204980	36204980	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:36204980G>T	ENST00000318121.3	-	19	3351	c.3294C>A	c.(3292-3294)atC>atA	p.I1098I	CLSPN_ENST00000373220.3_Silent_p.I1034I|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000520551.1_Silent_p.I1045I|CLSPN_ENST00000251195.5_Silent_p.I1098I|CLSPN_ENST00000466308.1_5'Flank	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1098					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTATTTTCTTGATTTGACTCT	0.408																																						ENST00000251195.5		NA																	0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(3292-3294)atC>atA		claspin							252.0	231.0	238.0					1																	36204980		2203	4300	6503	SO:0001819	synonymous_variant	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36204980G>T	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3294C>A	1.37:g.36204980G>T		False	False		Somatic	0				CLSPN_ENST00000520551.1_Silent_p.I1045I|CLSPN_ENST00000373220.3_Silent_p.I1034I|CLSPN_ENST00000318121.3_Silent_p.I1098I	p.I1098I			WXS	Illumina HiSeq	Phase_I	Q9HAW4	CLSPN_HUMAN			19	3390	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1098					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Silent	SNP	ENST00000318121.3	37	c.3294C>A	CCDS396.1																																																																																				0.408	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	0	NM_022111		1:36204980
OR2B11	127623	broad.mit.edu	37	1	247614397	247614397	+	Silent	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:247614397C>A	ENST00000318749.6	-	1	911	c.888G>T	c.(886-888)ctG>ctT	p.L296L		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	296						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)			CTTTATTTCTCAGGGTGTAGG	0.478																																						ENST00000318749.6		NA																	0				endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60						c.(886-888)ctG>ctT		olfactory receptor, family 2, subfamily B, member 11							182.0	196.0	191.0					1																	247614397		2203	4300	6503	SO:0001819	synonymous_variant	127623				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247614397C>A		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.888G>T	1.37:g.247614397C>A		False	False		Somatic	0					p.L296L	NM_001004492.1	NP_001004492.1	WXS	Illumina HiSeq	Phase_I	Q5JQS5	OR2BB_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	911	-	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)	296					B2RP03	Silent	SNP	ENST00000318749.6	37	c.888G>T	CCDS31090.1																																																																																				0.478	OR2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097620.1	0	NM_001004492		1:247614397
ERCC6	2074	broad.mit.edu	37	10	50678238	50678238	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:50678238G>T	ENST00000355832.5	-	18	3846	c.3768C>A	c.(3766-3768)ttC>ttA	p.F1256L	ERCC6_ENST00000465653.1_5'UTR|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.F626L	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1256					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGATTTTTTGAAAAGCTTTT	0.418								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5		NA																	0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3766-3768)ttC>ttA	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							234.0	225.0	228.0					10																	50678238		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50678238G>T	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3768C>A	10.37:g.50678238G>T	ENSP00000348089:p.Phe1256Leu	True	False		Somatic	0				ERCC6_ENST00000542458.1_Missense_Mutation_p.F626L|ERCC6_ENST00000465653.1_5'UTR|RP11-123B3.2_ENST00000423283.1_RNA	p.F1256L	NM_000124.2	NP_000115.1	WXS	Illumina HiSeq	Phase_I	Q03468	ERCC6_HUMAN			18	3846	-			1256					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.3768C>A	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770035	0.69992	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.90563	-2.69;-2.32	5.56	3.72	0.42706	.	.	.	.	.	D	0.94135	0.8119	M	0.75777	2.31	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.92906	0.6343	9	0.44086	T	0.13	-17.9643	12.137	0.53977	0.1394:0.0:0.8606:0.0	.	1256;633	Q03468;Q59FF6	ERCC6_HUMAN;.	L	1256;633;626	ENSP00000348089:F1256L;ENSP00000445134:F626L	ENSP00000348089:F1256L	F	-	3	2	ERCC6	50348244	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.737000	0.62066	0.723000	0.32274	-0.229000	0.12294	TTC		0.418	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	0	NM_000124		10:50678238
CHRNB4	1143	broad.mit.edu	37	15	78927852	78927852	+	Missense_Mutation	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr15:78927852G>T	ENST00000261751.3	-	2	244	c.133C>A	c.(133-135)Cgc>Agc	p.R45S	CHRNB4_ENST00000412074.2_Missense_Mutation_p.R45S|CHRNB4_ENST00000560511.1_5'UTR	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	45					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	GTGGCTGGGCGGATCAGGTTA	0.572																																						ENST00000261751.3		NA																	0				endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						c.(133-135)Cgc>Agc		cholinergic receptor, nicotinic, beta 4 (neuronal)							214.0	203.0	207.0					15																	78927852		2196	4293	6489	SO:0001583	missense	1143				regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78927852G>T	U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.133C>A	15.37:g.78927852G>T	ENSP00000261751:p.Arg45Ser	False	False		Somatic	0				CHRNB4_ENST00000560511.1_5'UTR|CHRNB4_ENST00000412074.2_Missense_Mutation_p.R45S	p.R45S	NM_000750.3	NP_000741.1	WXS	Illumina HiSeq	Phase_I	P30926	ACHB4_HUMAN			2	244	-			45					A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	ENST00000261751.3	37	c.133C>A	CCDS10306.1	.	.	.	.	.	.	.	.	.	.	G	19.31	3.802420	0.70682	.	.	ENSG00000117971	ENST00000261751;ENST00000412074	D;D	0.82893	-1.66;-1.66	3.98	3.98	0.46160	Neurotransmitter-gated ion-channel ligand-binding (3);	0.074052	0.53938	D	0.000053	D	0.94653	0.8276	H	0.98466	4.24	0.49798	D	0.999829	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	D	0.97131	0.9818	10	0.87932	D	0	.	16.1772	0.81858	0.0:0.0:1.0:0.0	.	45;45	E9PHE8;P30926	.;ACHB4_HUMAN	S	45	ENSP00000261751:R45S;ENSP00000416386:R45S	ENSP00000261751:R45S	R	-	1	0	CHRNB4	76714907	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	5.391000	0.66266	1.797000	0.52628	0.430000	0.28490	CGC		0.572	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290108.1	0			15:78927852
SLC17A8	246213	broad.mit.edu	37	12	100774595	100774595	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr12:100774595C>A	ENST00000323346.5	+	2	531	c.218C>A	c.(217-219)cCc>cAc	p.P73H	SLC17A8_ENST00000392989.3_Missense_Mutation_p.P73H	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	73					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TGCGGCCTCCCCAAGCGTTAC	0.527																																						ENST00000323346.5		NA																	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						c.(217-219)cCc>cAc		solute carrier family 17 (vesicular glutamate transporter), member 8							162.0	151.0	155.0					12																	100774595		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100774595C>A	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.218C>A	12.37:g.100774595C>A	ENSP00000316909:p.Pro73His	True	False		Somatic	0				SLC17A8_ENST00000392989.3_Missense_Mutation_p.P73H	p.P73H	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	WXS	Illumina HiSeq	Phase_I	Q8NDX2	VGLU3_HUMAN			2	531	+			73					B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.218C>A	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578488	0.86645	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.59364	0.27;0.27	5.27	5.27	0.74061	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.75583	0.3869	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.99;0.993	T	0.78157	-0.2313	10	0.87932	D	0	.	18.8896	0.92392	0.0:1.0:0.0:0.0	.	73;73	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	H	73	ENSP00000316909:P73H;ENSP00000376715:P73H	ENSP00000316909:P73H	P	+	2	0	SLC17A8	99298726	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	7.711000	0.84669	2.466000	0.83321	0.591000	0.81541	CCC		0.527	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	0	NM_139319		12:100774595
DDX58	23586	broad.mit.edu	37	9	32485248	32485248	+	Missense_Mutation	SNP	C	C	A	rs368484093		TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr9:32485248C>A	ENST00000379883.2	-	10	1562	c.1405G>T	c.(1405-1407)Gac>Tac	p.D469Y	DDX58_ENST00000379882.1_Missense_Mutation_p.D424Y|DDX58_ENST00000545044.1_Missense_Mutation_p.D266Y|DDX58_ENST00000542096.1_Missense_Mutation_p.D398Y|DDX58_ENST00000379868.1_Missense_Mutation_p.D266Y	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	469	Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TTAAATTTGTCGCTAATCCGT	0.363																																						ENST00000379882.1		NA																	0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(1270-1272)Gac>Tac		DEAD (Asp-Glu-Ala-Asp) box polypeptide 58							132.0	130.0	131.0					9																	32485248		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32485248C>A	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1405G>T	9.37:g.32485248C>A	ENSP00000369213:p.Asp469Tyr	False	False		Somatic	0				DDX58_ENST00000545044.1_Missense_Mutation_p.D266Y|DDX58_ENST00000379883.2_Missense_Mutation_p.D469Y|DDX58_ENST00000542096.1_Missense_Mutation_p.D398Y|DDX58_ENST00000379868.1_Missense_Mutation_p.D266Y	p.D424Y			WXS	Illumina HiSeq	Phase_I	O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	9	1427	-			469			Helicase ATP-binding.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.1270G>T	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	C	10.83	1.462544	0.26248	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.12465	3.21;3.18;3.1;3.06;2.68	4.95	-6.27	0.02026	.	0.396898	0.23215	N	0.050630	T	0.26738	0.0654	M	0.85630	2.765	0.09310	N	0.999999	D;P;P;D	0.67145	0.982;0.886;0.91;0.996	P;P;B;P	0.54815	0.672;0.578;0.374;0.761	T	0.11567	-1.0582	10	0.62326	D	0.03	-3.7673	13.289	0.60260	0.0:0.2803:0.0:0.7197	.	266;424;398;469	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	Y	424;469;266;398;266	ENSP00000369212:D424Y;ENSP00000369213:D469Y;ENSP00000369197:D266Y;ENSP00000442160:D398Y;ENSP00000443055:D266Y	ENSP00000369197:D266Y	D	-	1	0	DDX58	32475248	0.002000	0.14202	0.000000	0.03702	0.017000	0.09413	-0.292000	0.08332	-1.244000	0.02516	0.655000	0.94253	GAC		0.363	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	0	NM_014314		9:32485248
DNAH8	1769	broad.mit.edu	37	6	38705701	38705701	+	Missense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr6:38705701C>A	ENST00000359357.3	+	5	672	c.418C>A	c.(418-420)Cat>Aat	p.H140N	DNAH8_ENST00000449981.2_Missense_Mutation_p.H357N|DNAH8_ENST00000441566.1_Missense_Mutation_p.H140N			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	140					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAAACTGTTCATCAGCTGGA	0.408																																						ENST00000359357.3		NA																	0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(418-420)Cat>Aat		dynein, axonemal, heavy chain 8							136.0	134.0	135.0					6																	38705701		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38705701C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.418C>A	6.37:g.38705701C>A	ENSP00000352312:p.His140Asn	False	False		Somatic	0				DNAH8_ENST00000449981.2_Missense_Mutation_p.H357N|DNAH8_ENST00000441566.1_Missense_Mutation_p.H140N	p.H140N			WXS	Illumina HiSeq	Phase_I					5	672	+			NA					O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.418C>A		.	.	.	.	.	.	.	.	.	.	C	5.844	0.339911	0.11069	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.52526	0.66;0.66;0.66	5.62	4.76	0.60689	Dynein heavy chain, domain-1 (1);	0.431265	0.24467	N	0.038261	T	0.12092	0.0294	N	0.20685	0.6	0.25144	N	0.990471	B	0.09022	0.002	B	0.22601	0.04	T	0.18713	-1.0328	10	0.17369	T	0.5	.	6.7968	0.23729	0.143:0.706:0.0:0.151	.	140	Q96JB1	DYH8_HUMAN	N	345;345;140;140	ENSP00000333363:H345N;ENSP00000352312:H140N;ENSP00000402294:H140N	ENSP00000333363:H345N	H	+	1	0	DNAH8	38813679	1.000000	0.71417	0.972000	0.41901	0.390000	0.30446	2.542000	0.45744	1.370000	0.46153	-0.142000	0.14014	CAT		0.408	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	0	NM_001206927		6:38705701
ASH1L	55870	broad.mit.edu	37	1	155447701	155447701	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr1:155447701C>A	ENST00000368346.3	-	3	5599	c.4960G>T	c.(4960-4962)Gaa>Taa	p.E1654*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.E1654*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1654	Ser-rich.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ACTGCCCTTTCGTTAGAAGGC	0.428																																						ENST00000368346.3		NA																	0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(4960-4962)Gaa>Taa		ash1 (absent, small, or homeotic)-like (Drosophila)							71.0	76.0	74.0					1																	155447701		2203	4300	6503	SO:0001587	stop_gained	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155447701C>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.4960G>T	1.37:g.155447701C>A	ENSP00000357330:p.Glu1654*	True	False		Somatic	0				ASH1L_ENST00000392403.3_Nonsense_Mutation_p.E1654*	p.E1654*			WXS	Illumina HiSeq	Phase_I	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		3	5599	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1654			Ser-rich.		Q59GP1|Q5T714|Q5T715|Q9P2C7	Nonsense_Mutation	SNP	ENST00000368346.3	37	c.4960G>T		.	.	.	.	.	.	.	.	.	.	C	49	15.116674	0.99823	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	.	.	.	5.44	5.44	0.79542	.	0.067417	0.64402	D	0.000016	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.0495	0.93038	0.0:1.0:0.0:0.0	.	.	.	.	X	1654	.	ENSP00000357330:E1654X	E	-	1	0	ASH1L	153714325	0.998000	0.40836	0.998000	0.56505	0.955000	0.61496	4.846000	0.62860	2.832000	0.97577	0.655000	0.94253	GAA		0.428	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	0	NM_018489		1:155447701
ITIH5	80760	broad.mit.edu	37	10	7621857	7621857	+	Missense_Mutation	SNP	C	C	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:7621857C>T	ENST00000256861.6	-	9	1357	c.1279G>A	c.(1279-1281)Gcc>Acc	p.A427T	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.A213T|ITIH5_ENST00000397145.2_Missense_Mutation_p.A427T|ITIH5_ENST00000397146.2_Missense_Mutation_p.A427T|ITIH5_ENST00000446830.2_Missense_Mutation_p.A209T	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	427	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A427S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TGGCCTCGGGCGGCCTCTCGG	0.617																																						ENST00000256861.6		NA																	1	Substitution - Missense(1)	p.A427S(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						c.(1279-1281)Gcc>Acc		inter-alpha-trypsin inhibitor heavy chain family, member 5							136.0	123.0	128.0					10																	7621857		2203	4300	6503	SO:0001583	missense	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7621857C>T			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1279G>A	10.37:g.7621857C>T	ENSP00000256861:p.Ala427Thr	True	False		Somatic	0				ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.A427T|ITIH5_ENST00000446830.2_Missense_Mutation_p.A209T|ITIH5_ENST00000298441.6_Missense_Mutation_p.A213T|ITIH5_ENST00000397146.2_Missense_Mutation_p.A427T	p.A427T	NM_030569.6	NP_085046.5	WXS	Illumina HiSeq	Phase_I	Q86UX2	ITIH5_HUMAN			9	1357	-			427			VWFA.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	ENST00000256861.6	37	c.1279G>A		.	.	.	.	.	.	.	.	.	.	C	6.771	0.511196	0.12883	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13	5.2	1.74	0.24563	von Willebrand factor, type A (3);	0.388819	0.30979	N	0.008484	T	0.63896	0.2550	.	.	.	0.09310	N	1	B;B;B	0.25563	0.129;0.056;0.046	B;B;B	0.17433	0.018;0.01;0.006	T	0.52275	-0.8597	9	0.42905	T	0.14	-17.5123	8.1036	0.30872	0.0:0.4401:0.0:0.5599	.	427;427;213	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	T	427;427;213;209;427	ENSP00000256861:A427T;ENSP00000380333:A427T;ENSP00000298441:A213T;ENSP00000387969:A209T;ENSP00000380332:A427T	ENSP00000256861:A427T	A	-	1	0	ITIH5	7661863	0.733000	0.28132	0.002000	0.10522	0.111000	0.19643	1.263000	0.33004	0.052000	0.16007	0.462000	0.41574	GCC		0.617	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1	0	NM_030569		10:7621857
MKI67	4288	broad.mit.edu	37	10	129904176	129904176	+	Silent	SNP	G	G	T			TCGA-YB-A89D-01A-12D-A36O-08	TCGA-YB-A89D-10A-01D-A367-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	be60a8c7-3037-4c1a-9629-ef98e567b338	82dc60fa-8b94-4c7b-bbf4-39e0118a77d8	g.chr10:129904176G>T	ENST00000368654.3	-	13	6303	c.5928C>A	c.(5926-5928)atC>atA	p.I1976I	MKI67_ENST00000368653.3_Silent_p.I1616I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1976	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)				ATACTTCTGTGATTTTGTCAT	0.473																																						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.(5926-5928)atC>atA		marker of proliferation Ki-67							193.0	198.0	196.0					10																	129904176		2203	4300	6503	SO:0001819	synonymous_variant	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129904176G>T	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.5928C>A	10.37:g.129904176G>T		False	False		Somatic	0				MKI67_ENST00000368653.3_Silent_p.I1616I	p.I1976I	NM_002417.4	NP_002408.3	WXS	Illumina HiSeq	Phase_I	P46013	KI67_HUMAN			13	6303	-		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)	1976			16 X 122 AA approximate repeats.		Q5VWH2	Silent	SNP	ENST00000368654.3	37	c.5928C>A	CCDS7659.1																																																																																				0.473	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	0	NM_002417		10:129904176
