#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
KMT2D	8085	broad.mit.edu	37	12	49427314	49427315	+	In_Frame_Ins	INS	-	-	GCTGCA	rs377044162		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr12:49427314_49427315insGCTGCA	ENST00000301067.7	-	39	11172_11173	c.11173_11174insTGCAGC	c.(11173-11175)cag>cTGCAGCag	p.3724_3725insLQ	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3724	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CATACGTTGCTGCTGCAGCTGC	0.589																																						ENST00000301067.7		NA																	0					NA						c.(11173-11175)cag>cTGCAGCag		lysine (K)-specific methyltransferase 2D																																				SO:0001652	inframe_insertion	8085							g.chr12:49427314_49427315insGCTGCA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11168_11173dupTGCAGC	12.37:g.49427315_49427320dupGCTGCA	ENSP00000301067:p.Leu3723_Gln3724dup	True	False		Somatic	1					p.3724_3725insLQ	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					39	11172_11173	-			NA					O14687	In_Frame_Ins	INS	ENST00000301067.7	37	c.11173_11174insTGCAGC	CCDS44873.1																																																																																				0.589	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49427314
TYRO3	7301	broad.mit.edu	37	15	41857341	41857342	+	Splice_Site	INS	-	-	G	rs558156059		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr15:41857341_41857342insG	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579																																						ENST00000263798.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.e6+2		TYRO3 protein tyrosine kinase																																				SO:0001630	splice_region_variant	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41857341_41857342insG	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.783+2->G	15.37:g.41857341_41857342insG		False	False		Somatic	0				TYRO3_ENST00000559066.1_Splice_Site		NM_006293.3	NP_006284.2	WXS	Illumina HiSeq	Phase_I	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	6	1007	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	NA					O14953|Q86VR3	Splice_Site	INS	ENST00000263798.3	37		CCDS10080.1																																																																																				0.579	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2	0		Intron	15:41857341
DNM1P46	196968	broad.mit.edu	37	15	100340192	100340193	+	RNA	INS	-	-	GCAGGTTGGA			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr15:100340192_100340193insGCAGGTTGGA	ENST00000341853.1	-	0	733_734					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CCCACGCGAGTCTCGTCGCGCC	0.629																																						ENST00000341853.1		NA																	0					NA																																														0							g.chr15:100340192_100340193insGCAGGTTGGA	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340192_100340193insGCAGGTTGGA		False	False		Somatic	0						NR_003260.1		WXS	Illumina HiSeq	Phase_I					0	733_734	-			NA					Q3ZCN3	RNA	INS	ENST00000341853.1	37																																																																																						0.629	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	0	NR_003260		15:100340192
AXDND1	126859	broad.mit.edu	37	1	179504035	179504040	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-	rs200097954|rs368406759|rs79330752|rs6425573	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	AAGAAC	AAGAAC	-	-	AAGAAC	AAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:179504035_179504040delAAGAAC	ENST00000367618.3	+	25	3356_3361	c.2969_2974delAAGAAC	c.(2968-2976)gaagaacaa>gaa	p.EQ991del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						aaagaagaagaagaacaacaagaaga	0.316																																						ENST00000367618.3		NA																	1	Deletion - In frame(1)	p.E991_Q992delEQ(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(2968-2976)gaagaacaa>gaa		axonemal dynein light chain domain containing 1				750,3386		64,622,1382						-7.3	0.0		dbSNP_131	50	2737,5481		321,2095,1693	no	coding	AXDND1	NM_144696.4		385,2717,3075	A1A1,A1R,RR		33.3049,18.1335,28.2257				3487,8867				SO:0001651	inframe_deletion	126859							g.chr1:179504035_179504040delAAGAAC	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2969_2974delAAGAAC	1.37:g.179504035_179504040delAAGAAC	ENSP00000356590:p.Glu991_Gln992del	True	False		Somatic	1					p.EQ991del	NM_144696.4	NP_653297.3	WXS	Illumina HiSeq	Phase_I	Q5T1B0	AXDN1_HUMAN			25	3356_3361	+			991		E -> Q (in dbSNP:rs6425573).	Glu-rich.		Q6AWB2|Q96LJ3|Q96M01	In_Frame_Del	DEL	ENST00000367618.3	37	c.2969_2974delAAGAAC	CCDS30948.1																																																																																				0.316	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	0	NM_144696		1:179504035
RFX1	5989	broad.mit.edu	37	19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	rs201914058|rs559806837	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71																																						ENST00000254325.4		NA																	0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc		regulatory factor X, 1 (influences HLA class II expression)																																				SO:0001651	inframe_deletion	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	19.37:g.14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENSP00000254325:p.Gly386_Ser400del	False	False		Somatic	1					p.386_401GGGGGGGGGGGGGGSG>G	NM_002918.4	NP_002909.4	WXS	Illumina HiSeq	Phase_I	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		9	1392_1436	-			386			Gly-rich.			In_Frame_Del	DEL	ENST00000254325.4	37	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	CCDS12301.1																																																																																				0.710	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	0	NM_002918		19:14083667
IRS4	8471	broad.mit.edu	37	X	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-	rs2073114	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616																																						ENST00000372129.2		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(61-66)gcggca>gca		insulin receptor substrate 4																																				SO:0001651	inframe_deletion	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979510_107979512delGCC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.63_65delGGC	X.37:g.107979513_107979515delGCC	ENSP00000361202:p.Ala25del	True	False		Somatic	2					p.21_22AA>A	NM_003604.2	NP_003595.1	WXS	Illumina HiSeq	Phase_I	O14654	IRS4_HUMAN			1	139_141	-			21			Poly-Ala.			In_Frame_Del	DEL	ENST00000372129.2	37	c.63_65delGGC	CCDS14544.1																																																																																				0.616	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	0	NM_003604		X:107979510
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	AAGA	AAGA	-	-	AAGA	AAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304																																						ENST00000316788.7		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(121-126)aagagafs		adaptor-related protein complex 3, sigma 1 subunit																																				SO:0001589	frameshift_variant	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115202418_115202421delAAGA	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.121_124delAAGA	5.37:g.115202418_115202421delAAGA	ENSP00000325369:p.Lys41fs	True	False		Somatic	1					p.KR41fs	NM_001284.2	NP_001275.1	WXS	Illumina HiSeq	Phase_I	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	2	678_681	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	41					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Frame_Shift_Del	DEL	ENST00000316788.7	37	c.121_124delAAGA	CCDS4123.1																																																																																				0.304	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2	0			5:115202418
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
GPR6	2830	broad.mit.edu	37	6	110300376	110300435	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	rs375711945|rs573522362		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	-	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENST00000275169.3	+	1	79_138	c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	c.(61-120)gcggcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel	p.AAAAATAAGGPDTGEWGPPA21del	GPR6_ENST00000414000.2_In_Frame_Del_p.AAAAATAAGGPDTGEWGPPA36del	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	21	Poly-Ala.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ggccgaaggagcggcggcggcggccacagcagcaggggggccggACACGGGCGAATGGGGACCCCCTGCTGCGGCGGCTC	0.712																																						ENST00000275169.3		NA																	0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18						c.(61-120)gcggcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel		G protein-coupled receptor 6																																				SO:0001651	inframe_deletion	0					integral to plasma membrane		g.chr6:110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	6.37:g.110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENSP00000275169:p.Ala21_Ala40del	True	False		Somatic	1				GPR6_ENST00000414000.2_In_Frame_Del_p.AAAAATAAGGPDTGEWGPPA36del	p.AAAAATAAGGPDTGEWGPPA21del	NM_005284.3	NP_005275.1	WXS	Illumina HiSeq	Phase_I	P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	1	79_138	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	21			Poly-Ala.		B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	In_Frame_Del	DEL	ENST00000275169.3	37	c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	CCDS5079.1																																																																																				0.712	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1	0			6:110300376
FNDC1	84624	broad.mit.edu	37	6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-	rs547492676	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	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
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.		K -> E (in dbSNP:rs13928). {ECO:0000269|Ref.3}.		cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552																																						ENST00000223357.3		NA																	0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3394-3399)gagaaa>gaa		AE binding protein 1																																				SO:0001651	inframe_deletion	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153778_44153780delAGA	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3395_3397delAGA	7.37:g.44153778_44153780delAGA	ENSP00000223357:p.Lys1133del	True	False		Somatic	1				AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	p.K1133del	NM_001129.3	NP_001120.3	WXS	Illumina HiSeq	Phase_I	Q8IUX7	AEBP1_HUMAN			21	3700_3702	+			1133		K -> E (in dbSNP:rs13928).	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	In_Frame_Del	DEL	ENST00000223357.3	37	c.3395_3397delAGA	CCDS5476.1																																																																																				0.552	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	0	NM_001129		7:44153778
ZKSCAN7	55888	broad.mit.edu	37	3	44611616	44611616	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr3:44611616C>A	ENST00000273320.3	+	6	1443	c.1014C>A	c.(1012-1014)ttC>ttA	p.F338L	ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.F338L|RP11-944L7.4_ENST00000457331.1_RNA|RP11-944L7.5_ENST00000419137.1_Intron|ZKSCAN7_ENST00000431636.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	338					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)										AAAATGATTTCTTGGAAATAA	0.403																																						ENST00000273320.3		NA																	0					NA						c.(1012-1014)ttC>ttA		zinc finger with KRAB and SCAN domains 7							89.0	94.0	92.0					3																	44611616		2203	4300	6503	SO:0001583	missense	55888							g.chr3:44611616C>A	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1014C>A	3.37:g.44611616C>A	ENSP00000273320:p.Phe338Leu	True	False		Somatic	0				ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.5_ENST00000419137.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.F338L	p.F338L	NM_018651.2	NP_061121.2	WXS	Illumina HiSeq	Phase_I					6	1443	+			NA					A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	c.1014C>A	CCDS2715.1	.	.	.	.	.	.	.	.	.	.	.	13.19	2.163148	0.38217	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000447279	T;T;T	0.05199	3.48;3.48;3.49	4.4	1.5	0.22942	.	.	.	.	.	T	0.02767	0.0083	N	0.08118	0	0.09310	N	1	B;B	0.14805	0.011;0.003	B;B	0.15052	0.012;0.003	T	0.48151	-0.9060	9	0.17369	T	0.5	-2.1889	3.5129	0.07714	0.1811:0.5324:0.0:0.2865	.	208;338	A7MAY2;Q9P0L1	.;ZN167_HUMAN	L	338;338;187	ENSP00000395524:F338L;ENSP00000273320:F338L;ENSP00000405034:F187L	ENSP00000273320:F338L	F	+	3	2	ZNF167	44586620	0.000000	0.05858	0.018000	0.16275	0.086000	0.17979	-0.786000	0.04623	0.482000	0.27582	-0.188000	0.12872	TTC		0.403	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	0	NM_018651		3:44611616
RTN3	10313	broad.mit.edu	37	11	63486571	63486571	+	Silent	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:63486571G>A	ENST00000377819.5	+	3	751	c.597G>A	c.(595-597)ttG>ttA	p.L199L	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000339997.4_Silent_p.L180L|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Silent_p.L87L	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	199					apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAACTGCATTGGATGCTGATG	0.413																																						ENST00000377819.5		NA																	0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(595-597)ttG>ttA		reticulon 3							84.0	87.0	86.0					11																	63486571		2201	4298	6499	SO:0001819	synonymous_variant	10313				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane		g.chr11:63486571G>A	AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.597G>A	11.37:g.63486571G>A		False	False		Somatic	0				RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000339997.4_Silent_p.L180L|RTN3_ENST00000540798.1_Silent_p.L87L|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron	p.L199L	NM_001265589.1	NP_001252518.1	WXS	Illumina HiSeq	Phase_I	O95197	RTN3_HUMAN			3	751	+			199					B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Silent	SNP	ENST00000377819.5	37	c.597G>A	CCDS58141.1																																																																																				0.413	RTN3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397846.1	0	NM_006054		11:63486571
SOAT1	6646	broad.mit.edu	37	1	179320574	179320574	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:179320574C>T	ENST00000367619.3	+	15	1716	c.1573C>T	c.(1573-1575)Cgt>Tgt	p.R525C	SOAT1_ENST00000539888.1_Missense_Mutation_p.R460C|SOAT1_ENST00000535686.1_Missense_Mutation_p.R261C|SOAT1_ENST00000540564.1_Missense_Mutation_p.R467C	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	525					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol storage (GO:0010878)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of amyloid precursor protein biosynthetic process (GO:0042986)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|sterol O-acyltransferase activity (GO:0004772)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	ATGGTATGCACGTCAGCACTG	0.433																																						ENST00000367619.3		NA																	0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20						c.(1573-1575)Cgt>Tgt		sterol O-acyltransferase 1	Ezetimibe(DB00973)|Hesperetin(DB01094)						203.0	188.0	193.0					1																	179320574		2203	4300	6503	SO:0001583	missense	6646				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr1:179320574C>T	L21934	CCDS1330.1, CCDS58047.1, CCDS58048.1	1q25	2008-08-26	2008-08-26		ENSG00000057252	ENSG00000057252	2.3.1.26		11177	protein-coding gene	gene with protein product	"""acyl-Coenzyme A: cholesterol acyltransferase"""	102642	"""sterol O-acyltransferase (acyl-Coenzyme A: cholesterol acyltransferase) 1"""	SOAT, STAT		8407899	Standard	NM_003101		Approved	ACAT	uc001gml.3	P35610	OTTHUMG00000035253	ENST00000367619.3:c.1573C>T	1.37:g.179320574C>T	ENSP00000356591:p.Arg525Cys	False	False		Somatic	0				SOAT1_ENST00000540564.1_Missense_Mutation_p.R467C|SOAT1_ENST00000535686.1_Missense_Mutation_p.R261C|SOAT1_ENST00000539888.1_Missense_Mutation_p.R460C	p.R525C	NM_003101.5	NP_003092.4	WXS	Illumina HiSeq	Phase_I	P35610	SOAT1_HUMAN			15	1716	+			525					A6NC40|A8K3P4|A9Z1V7|B4DU95|Q5T0X4|Q8N1E4	Missense_Mutation	SNP	ENST00000367619.3	37	c.1573C>T	CCDS1330.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067359	0.93898	.	.	ENSG00000057252	ENST00000539888;ENST00000540564;ENST00000535686;ENST00000367619	T;T;T;T	0.37058	1.25;1.24;1.31;1.22	5.58	5.58	0.84498	.	0.175782	0.53938	N	0.000049	T	0.61726	0.2370	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.953;0.988	T	0.64753	-0.6333	10	0.87932	D	0	-6.7329	17.0671	0.86562	0.0:1.0:0.0:0.0	.	467;525	A8K3P4;P35610	.;SOAT1_HUMAN	C	460;467;261;525	ENSP00000441356:R460C;ENSP00000445315:R467C;ENSP00000442503:R261C;ENSP00000356591:R525C	ENSP00000356591:R525C	R	+	1	0	SOAT1	177587197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.572000	0.60886	2.618000	0.88619	0.563000	0.77884	CGT		0.433	SOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085286.2	0	NM_003101		1:179320574
CD44	960	broad.mit.edu	37	11	35227738	35227738	+	Silent	SNP	C	C	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:35227738C>T	ENST00000428726.2	+	11	1485	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	CD44_ENST00000433354.2_Silent_p.F455F|CD44_ENST00000263398.6_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000449691.2_Silent_p.F411F|CD44_ENST00000352818.4_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000415148.2_Silent_p.F411F|CD44_ENST00000526669.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000437706.2_Silent_p.F454F	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	454	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	CTGATTTCTTCAACCCAATCT	0.468																																						ENST00000428726.2		NA																	0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23						c.(1360-1362)ttC>ttT		CD44 molecule (Indian blood group)	Hyaluronidase(DB00070)						222.0	182.0	196.0					11																	35227738		2202	4298	6500	SO:0001819	synonymous_variant	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35227738C>T	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1362C>T	11.37:g.35227738C>T		False	False		Somatic	0				CD44_ENST00000415148.2_Silent_p.F411F|CD44_ENST00000434472.2_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000433354.2_Silent_p.F455F|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Silent_p.F411F|CD44_ENST00000352818.4_Intron|CD44_ENST00000437706.2_Silent_p.F454F|CD44_ENST00000433892.2_Intron	p.F454F	NM_000610.3	NP_000601.3	WXS	Illumina HiSeq	Phase_I	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		11	1485	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	454			Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Silent	SNP	ENST00000428726.2	37	c.1362C>T	CCDS7897.1	.	.	.	.	.	.	.	.	.	.	C	0.021	-1.427132	0.01117	.	.	ENSG00000026508	ENST00000526553	.	.	.	4.76	-4.84	0.03151	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	.	.	.	-16.0397	6.5665	0.22515	0.0:0.3178:0.3143:0.3678	.	.	.	.	X	107	.	.	Q	+	1	0	CD44	35184314	0.015000	0.18098	0.007000	0.13788	0.000000	0.00434	-1.469000	0.02348	-1.229000	0.02564	-0.797000	0.03246	CAA		0.468	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	0	NM_000610		11:35227738
LIG1	3978	broad.mit.edu	37	19	48654515	48654515	+	Missense_Mutation	SNP	G	G	A	rs564476088	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:48654515G>A	ENST00000263274.7	-	7	967	c.548C>T	c.(547-549)aCg>aTg	p.T183M	LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.T152M|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	183					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CTTGGGAGGCGTGGTGGGCTG	0.567								Nucleotide excision repair (NER)					G|||	2	0.000399361	0.0	0.0	5008	,	,		12618	0.0		0.0	False		,,,				2504	0.002					ENST00000263274.7		NA																	0				breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44						c.(547-549)aCg>aTg	Nucleotide excision repair (NER)	ligase I, DNA, ATP-dependent	Bleomycin(DB00290)						154.0	143.0	147.0					19																	48654515		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48654515G>A		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.548C>T	19.37:g.48654515G>A	ENSP00000263274:p.Thr183Met	False	False		Somatic	0				LIG1_ENST00000599165.1_5'UTR|LIG1_ENST00000427526.2_Missense_Mutation_p.T152M|LIG1_ENST00000536218.1_Intron	p.T183M	NM_000234.1	NP_000225.1	WXS	Illumina HiSeq	Phase_I	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	7	967	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	183					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.548C>T	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	G	9.371	1.070591	0.20147	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000542460	T;T;T	0.58060	0.49;0.36;3.03	4.54	-0.526	0.11913	.	1.498560	0.03481	N	0.215059	T	0.47600	0.1454	L	0.51422	1.61	0.09310	N	1	B;B	0.13145	0.007;0.007	B;B	0.10450	0.005;0.005	T	0.39231	-0.9624	10	0.52906	T	0.07	-0.0148	7.3598	0.26739	0.4529:0.0:0.5471:0.0	.	152;183	B4DTU4;P18858	.;DNLI1_HUMAN	M	183;214;152;151	ENSP00000263274:T183M;ENSP00000442841:T152M;ENSP00000445928:T151M	ENSP00000263274:T183M	T	-	2	0	LIG1	53346327	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.139000	0.16036	-0.084000	0.12595	-0.254000	0.11334	ACG		0.567	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	0	NM_000234		19:48654515
PDE10A	10846	broad.mit.edu	37	6	165832222	165832222	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:165832222A>T	ENST00000366882.1	-	12	1023	c.869T>A	c.(868-870)tTc>tAc	p.F290Y	PDE10A_ENST00000354448.4_Missense_Mutation_p.F290Y|PDE10A_ENST00000539869.2_Missense_Mutation_p.F300Y			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	290	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GTCCACCTGGAAAAGCGCACA	0.388																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1		NA																	0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(868-870)tTc>tAc		phosphodiesterase 10A	Dipyridamole(DB00975)						95.0	87.0	90.0					6																	165832222		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165832222A>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.869T>A	6.37:g.165832222A>T	ENSP00000355847:p.Phe290Tyr	True	False		Somatic	0				PDE10A_ENST00000539869.2_Missense_Mutation_p.F300Y|PDE10A_ENST00000354448.4_Missense_Mutation_p.F290Y	p.F290Y			WXS	Illumina HiSeq	Phase_I	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	12	1023	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	290			GAF 2.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.869T>A		.	.	.	.	.	.	.	.	.	.	A	26.7	4.762878	0.89932	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.69561	-0.41;-0.41	5.03	5.03	0.67393	GAF (2);	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.63428	1.95	0.80722	D	1	D;D	0.62365	0.991;0.988	D;D	0.76071	0.982;0.987	T	0.76887	-0.2793	10	0.54805	T	0.06	.	14.784	0.69787	1.0:0.0:0.0:0.0	.	300;290	Q9ULW9;Q9Y233	.;PDE10_HUMAN	Y	290;318;300;290;289	ENSP00000355847:F290Y;ENSP00000346435:F290Y	ENSP00000341187:F300Y	F	-	2	0	PDE10A	165752212	1.000000	0.71417	0.978000	0.43139	0.995000	0.86356	8.749000	0.91619	1.903000	0.55091	0.459000	0.35465	TTC		0.388	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1	0			6:165832222
CNGA4	1262	broad.mit.edu	37	11	6262838	6262838	+	Silent	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:6262838G>A	ENST00000379936.2	+	5	1210	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q	CNGA4_ENST00000533426.1_Silent_p.Q134Q	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	365					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAAGCTGCAGCCCCAGACCT	0.567																																						ENST00000379936.2		NA																	0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(1093-1095)caG>caA		cyclic nucleotide gated channel alpha 4							149.0	136.0	140.0					11																	6262838		2201	4296	6497	SO:0001819	synonymous_variant	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6262838G>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1095G>A	11.37:g.6262838G>A		True	False		Somatic	0				CNGA4_ENST00000533426.1_Silent_p.Q134Q	p.Q365Q	NM_001037329.3	NP_001032406.1	WXS	Illumina HiSeq	Phase_I	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	5	1210	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	365						Silent	SNP	ENST00000379936.2	37	c.1095G>A	CCDS31408.1																																																																																				0.567	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	0	NM_001037329		11:6262838
DPYS	1807	broad.mit.edu	37	8	105456665	105456665	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr8:105456665C>T	ENST00000351513.2	-	4	736	c.604G>A	c.(604-606)Gga>Aga	p.G202R		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	202					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TTCTTTGCTCCCTAAAAAGAC	0.478																																						ENST00000351513.2		NA																	0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(604-606)Gga>Aga		dihydropyrimidinase							48.0	46.0	46.0					8																	105456665		2203	4300	6503	SO:0001630	splice_region_variant	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105456665C>T	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.604-1G>A	8.37:g.105456665C>T		True	False		Somatic	0					p.G202R	NM_001385.2	NP_001376.1	WXS	Illumina HiSeq	Phase_I	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		4	736	-			202						Splice_Site	SNP	ENST00000351513.2	37	c.604G>A	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578794	0.65878	.	.	ENSG00000147647	ENST00000351513;ENST00000521573	D;D	0.89485	-2.52;-2.15	5.67	5.67	0.87782	Amidohydrolase 1 (1);	0.171294	0.49916	D	0.000126	D	0.84701	0.5530	N	0.16130	0.375	0.58432	D	0.999998	P	0.44816	0.844	P	0.51453	0.67	T	0.81309	-0.0991	10	0.13108	T	0.6	-10.9332	14.9731	0.71249	0.0:0.9298:0.0:0.0702	.	202	Q14117	DPYS_HUMAN	R	202;149	ENSP00000276651:G202R;ENSP00000430246:G149R	ENSP00000276651:G202R	G	-	1	0	DPYS	105525841	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.482000	0.60257	2.666000	0.90696	0.655000	0.94253	GGA		0.478	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1	0	NM_001385	Missense_Mutation	8:105456665
TMEM145	284339	broad.mit.edu	37	19	42821981	42821981	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:42821981T>A	ENST00000301204.3	+	12	1062	c.1021T>A	c.(1021-1023)Ttt>Att	p.F341I	TMEM145_ENST00000598766.1_Missense_Mutation_p.F365I	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	341					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACTGCGACACTTTCCTGAGAA	0.587																																						ENST00000598766.1		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(1093-1095)Ttt>Att		transmembrane protein 145							206.0	163.0	177.0					19																	42821981		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42821981T>A	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1021T>A	19.37:g.42821981T>A	ENSP00000301204:p.Phe341Ile	True	False		Somatic	0				TMEM145_ENST00000301204.3_Missense_Mutation_p.F341I	p.F365I			WXS	Illumina HiSeq	Phase_I	Q8NBT3	TM145_HUMAN			12	1093	+		Prostate(69;0.00682)	341						Missense_Mutation	SNP	ENST00000301204.3	37	c.1093T>A	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	T	19.70	3.875924	0.72180	.	.	ENSG00000167619	ENST00000301204	T	0.42900	0.96	4.55	4.55	0.56014	Rhodopsin-like GPCR transmembrane domain (1);	0.406915	0.23626	N	0.046195	T	0.38639	0.1048	L	0.50333	1.59	0.40337	D	0.978994	B	0.33413	0.411	B	0.37015	0.239	T	0.21690	-1.0238	10	0.23302	T	0.38	-16.4936	12.1572	0.54083	0.0:0.0:0.0:1.0	.	341	Q8NBT3	TM145_HUMAN	I	341	ENSP00000301204:F341I	ENSP00000301204:F341I	F	+	1	0	TMEM145	47513821	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	6.453000	0.73488	1.832000	0.53329	0.482000	0.46254	TTT		0.587	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	0	NM_173633		19:42821981
HECTD4	283450	broad.mit.edu	37	12	112681218	112681218	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr12:112681218G>A	ENST00000430131.2	-	31	4776	c.3631C>T	c.(3631-3633)Cga>Tga	p.R1211*	HECTD4_ENST00000377560.5_Nonsense_Mutation_p.R1461*|HECTD4_ENST00000550722.1_Nonsense_Mutation_p.R1487*			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1211					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										CCCCCGACTCGTACGGCAGCT	0.547																																						ENST00000550722.1		NA																	0					NA						c.(4459-4461)Cga>Tga		HECT domain containing E3 ubiquitin protein ligase 4							39.0	41.0	40.0					12																	112681218		2128	4248	6376	SO:0001587	stop_gained	283450							g.chr12:112681218G>A	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.3631C>T	12.37:g.112681218G>A	ENSP00000404379:p.Arg1211*	False	False		Somatic	0				HECTD4_ENST00000377560.5_Nonsense_Mutation_p.R1461*|HECTD4_ENST00000430131.2_Nonsense_Mutation_p.R1211*	p.R1487*	NM_001109662.3	NP_001103132.3	WXS	Illumina HiSeq	Phase_I					32	4854	-			NA					L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Nonsense_Mutation	SNP	ENST00000430131.2	37	c.4459C>T		.	.	.	.	.	.	.	.	.	.	G	49	15.254624	0.99827	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	.	.	.	5.85	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4987	0.84252	0.0:0.0:0.868:0.1319	.	.	.	.	X	1461;1211;1487	.	ENSP00000366783:R1461X	R	-	1	2	C12orf51	111165601	1.000000	0.71417	0.976000	0.42696	0.039000	0.13416	4.200000	0.58433	1.462000	0.47948	-0.152000	0.13540	CGA		0.547	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		0	NM_173813		12:112681218
C3	718	broad.mit.edu	37	19	6710823	6710823	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:6710823G>A	ENST00000245907.6	-	13	1605	c.1513C>T	c.(1513-1515)Cgc>Tgc	p.R505C		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	505					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CGCACCTGGCGTCCCGCCTTC	0.652																																						ENST00000245907.6		NA																	0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(1513-1515)Cgc>Tgc		complement component 3							44.0	46.0	45.0					19																	6710823		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6710823G>A	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.1513C>T	19.37:g.6710823G>A	ENSP00000245907:p.Arg505Cys	False	False		Somatic	0					p.R505C	NM_000064.2	NP_000055.2	WXS	Illumina HiSeq	Phase_I	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	13	1605	-			505					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.1513C>T	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976535	0.53720	.	.	ENSG00000125730	ENST00000245907	T	0.65178	-0.14	5.31	3.14	0.36123	Alpha-2-macroglobulin, N-terminal 2 (1);	0.050520	0.85682	N	0.000000	T	0.78477	0.4289	M	0.92026	3.265	0.19300	N	0.999976	D	0.89917	1.0	D	0.97110	1.0	T	0.68085	-0.5502	10	0.59425	D	0.04	.	3.8203	0.08833	0.082:0.1398:0.5074:0.2707	.	505	P01024	CO3_HUMAN	C	505	ENSP00000245907:R505C	ENSP00000245907:R505C	R	-	1	0	C3	6661823	0.662000	0.27439	0.008000	0.14137	0.008000	0.06430	1.347000	0.33975	0.608000	0.30000	0.655000	0.94253	CGC		0.652	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	0	NM_000064		19:6710823
ALDH4A1	8659	broad.mit.edu	37	1	19212958	19212958	+	Splice_Site	SNP	C	C	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:19212958C>A	ENST00000375341.3	-	4	554	c.297G>T	c.(295-297)aaG>aaT	p.K99N	ALDH4A1_ENST00000538839.1_Splice_Site_p.K99N|ALDH4A1_ENST00000454547.1_5'Flank|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Splice_Site_p.K39N|ALDH4A1_ENST00000290597.5_Splice_Site_p.K99N	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	99					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCACTCACCTTGTCTGCAT	0.587																																						ENST00000375341.3		NA																	0				cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15						c.(295-297)aaG>aaT		aldehyde dehydrogenase 4 family, member A1	NADH(DB00157)						172.0	128.0	143.0					1																	19212958		2203	4300	6503	SO:0001630	splice_region_variant	8659				proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr1:19212958C>A	U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.297+1G>T	1.37:g.19212958C>A		True	False		Somatic	0				RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000290597.5_Splice_Site_p.K99N|ALDH4A1_ENST00000538309.1_Splice_Site_p.K39N|ALDH4A1_ENST00000538839.1_Splice_Site_p.K99N	p.K99N	NM_003748.3	NP_003739.2	WXS	Illumina HiSeq	Phase_I	P30038	AL4A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	554	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	99					A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Splice_Site	SNP	ENST00000375341.3	37	c.297G>T	CCDS188.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006620	0.93287	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309;ENST00000375334	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	5.71	5.71	0.89125	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.046947	0.85682	D	0.000000	D	0.87676	0.6237	M	0.83852	2.665	0.80722	D	1	D	0.59357	0.985	P	0.61477	0.889	D	0.88178	0.2869	9	.	.	.	-28.641	16.5735	0.84631	0.0:1.0:0.0:0.0	.	99	P30038	AL4A1_HUMAN	N	99;99;99;39;39	ENSP00000290597:K99N;ENSP00000364490:K99N;ENSP00000446071:K99N;ENSP00000442988:K39N	.	K	-	3	2	ALDH4A1	19085545	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.798000	0.75155	2.686000	0.91538	0.655000	0.94253	AAG		0.587	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1	0		Missense_Mutation	1:19212958
SH3BP4	23677	broad.mit.edu	37	2	235949561	235949561	+	Missense_Mutation	SNP	A	A	C	rs138775253		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr2:235949561A>C	ENST00000409212.1	+	4	655	c.148A>C	c.(148-150)Aac>Cac	p.N50H	SH3BP4_ENST00000344528.4_Missense_Mutation_p.N50H|SH3BP4_ENST00000392011.2_Missense_Mutation_p.N50H			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	50					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCTCGTAGACAACCCCACACC	0.532																																						ENST00000409212.1		NA																	0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44						c.(148-150)Aac>Cac		SH3-domain binding protein 4							115.0	115.0	115.0					2																	235949561		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235949561A>C	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.148A>C	2.37:g.235949561A>C	ENSP00000386862:p.Asn50His	False	False		Somatic	0				SH3BP4_ENST00000344528.4_Missense_Mutation_p.N50H|SH3BP4_ENST00000392011.2_Missense_Mutation_p.N50H	p.N50H			WXS	Illumina HiSeq	Phase_I	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	4	655	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	50					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.148A>C	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.481890	0.44147	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000416021;ENST00000409212;ENST00000344528;ENST00000444916;ENST00000446904;ENST00000454947	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.44	4.25	0.50352	Src homology-3 domain (1);	0.509628	0.23624	N	0.046211	T	0.17704	0.0425	N	0.14661	0.345	0.39020	D	0.959721	P;P	0.41041	0.736;0.604	B;B	0.36885	0.235;0.235	T	0.06303	-1.0834	10	0.54805	T	0.06	0.9174	10.559	0.45133	0.8552:0.0:0.0:0.1448	.	50;50	A8K594;Q9P0V3	.;SH3B4_HUMAN	H	50	ENSP00000375867:N50H;ENSP00000403251:N50H;ENSP00000386862:N50H;ENSP00000340237:N50H;ENSP00000415391:N50H	ENSP00000340237:N50H	N	+	1	0	SH3BP4	235614300	0.997000	0.39634	0.976000	0.42696	0.823000	0.46562	3.448000	0.52943	0.859000	0.35456	0.533000	0.62120	AAC		0.532	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1	0			2:235949561
ANXA11	311	broad.mit.edu	37	10	81930573	81930573	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr10:81930573C>A	ENST00000438331.1	-	5	636	c.154G>T	c.(154-156)Gac>Tac	p.D52Y	ANXA11_ENST00000535999.1_Missense_Mutation_p.D52Y|ANXA11_ENST00000463657.1_5'Flank|ANXA11_ENST00000422982.3_Missense_Mutation_p.D52Y|ANXA11_ENST00000265447.4_Missense_Mutation_p.D52Y|ANXA11_ENST00000372231.3_Missense_Mutation_p.D52Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D52Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D19Y	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	52					cytokinesis, completion of separation (GO:0007109)|phagocytosis (GO:0006909)|response to calcium ion (GO:0051592)	azurophil granule (GO:0042582)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|specific granule (GO:0042581)|spindle (GO:0005819)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|MHC class II protein complex binding (GO:0023026)|phosphatidylethanolamine binding (GO:0008429)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GAGAGATAGTCCTGGTTGAAC	0.652																																						ENST00000438331.1		NA																	0				endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17						c.(154-156)Gac>Tac		annexin A11							84.0	69.0	74.0					10																	81930573		2203	4300	6503	SO:0001583	missense	311				cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	g.chr10:81930573C>A	L19605	CCDS7364.1, CCDS60576.1	10q22.3	2005-11-09			ENSG00000122359	ENSG00000122359		"""Annexins"""	535	protein-coding gene	gene with protein product		602572		ANX11		7508441, 9503022	Standard	NM_001157		Approved		uc001kbt.1	P50995	OTTHUMG00000018604	ENST00000438331.1:c.154G>T	10.37:g.81930573C>A	ENSP00000398610:p.Asp52Tyr	False	False		Somatic	0				ANXA11_ENST00000372231.3_Missense_Mutation_p.D52Y|ANXA11_ENST00000265447.4_Missense_Mutation_p.D52Y|ANXA11_ENST00000422982.3_Missense_Mutation_p.D52Y|ANXA11_ENST00000535999.1_Missense_Mutation_p.D52Y|ANXA11_ENST00000537102.1_Missense_Mutation_p.D19Y|ANXA11_ENST00000360615.4_Missense_Mutation_p.D52Y	p.D52Y	NM_145869.1	NP_665876.1	WXS	Illumina HiSeq	Phase_I	P50995	ANX11_HUMAN	Colorectal(32;0.109)		5	636	-	Prostate(51;0.00985)|all_epithelial(25;0.0951)		52					B4DVE7	Missense_Mutation	SNP	ENST00000438331.1	37	c.154G>T	CCDS7364.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	12.29|12.29	1.893491|1.893491	0.33442|0.33442	.|.	.|.	ENSG00000122359|ENSG00000122359	ENST00000372231;ENST00000422982;ENST00000438331;ENST00000372234;ENST00000360615;ENST00000265447;ENST00000535999;ENST00000537102;ENST00000445524;ENST00000437799|ENST00000424188	T;T;T;T;T;T;T|.	0.02140|.	4.5;4.5;4.5;4.5;4.5;4.5;4.43|.	4.69|4.69	3.77|3.77	0.43336|0.43336	.|.	1.397770|.	0.04356|.	N|.	0.356611|.	T|T	0.38612|0.38612	0.1047|0.1047	L|L	0.36672|0.36672	1.1|1.1	0.27665|0.27665	N|N	0.946935|0.946935	D;P;P|.	0.58970|.	0.984;0.826;0.826|.	P;B;B|.	0.54372|.	0.75;0.367;0.367|.	T|T	0.31971|0.31971	-0.9924|-0.9924	10|6	0.52906|0.87932	T|D	0.07|0	.|.	7.2398|7.2398	0.26090|0.26090	0.0:0.7252:0.1762:0.0986|0.0:0.7252:0.1762:0.0986	.|.	152;52;52|.	B7Z6L0;Q5T0G8;P50995|.	.;.;ANX11_HUMAN|.	Y|S	52;52;52;52;52;52;52;19;52;52|7	ENSP00000361305:D52Y;ENSP00000404412:D52Y;ENSP00000398610:D52Y;ENSP00000353827:D52Y;ENSP00000265447:D52Y;ENSP00000441748:D52Y;ENSP00000441400:D19Y|.	ENSP00000265447:D52Y|ENSP00000410826:R7S	D|R	-|-	1|3	0|2	ANXA11|ANXA11	81920553|81920553	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.671000|0.671000	0.39405|0.39405	1.595000|1.595000	0.36708|0.36708	2.326000|2.326000	0.78906|0.78906	0.443000|0.443000	0.29094|0.29094	GAC|AGG		0.652	ANXA11-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049044.1	0	NM_145869		10:81930573
PTPRT	11122	broad.mit.edu	37	20	41101179	41101179	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr20:41101179C>T	ENST00000373187.1	-	8	1176	c.1177G>A	c.(1177-1179)Gtg>Atg	p.V393M	PTPRT_ENST00000373198.4_Missense_Mutation_p.V393M|PTPRT_ENST00000373184.1_Missense_Mutation_p.V393M|PTPRT_ENST00000373190.1_Missense_Mutation_p.V393M|PTPRT_ENST00000373201.1_Missense_Mutation_p.V393M|PTPRT_ENST00000356100.2_Missense_Mutation_p.V393M|PTPRT_ENST00000373193.3_Missense_Mutation_p.V393M			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	393	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACGATTTCCACGTTCTGTGGG	0.562																																						ENST00000373198.4		NA																	0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(1177-1179)Gtg>Atg		protein tyrosine phosphatase, receptor type, T							48.0	55.0	53.0					20																	41101179		2049	4214	6263	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41101179C>T	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.1177G>A	20.37:g.41101179C>T	ENSP00000362283:p.Val393Met	False	False		Somatic	0				PTPRT_ENST00000373187.1_Missense_Mutation_p.V393M|PTPRT_ENST00000373190.1_Missense_Mutation_p.V393M|PTPRT_ENST00000373184.1_Missense_Mutation_p.V393M|PTPRT_ENST00000373201.1_Missense_Mutation_p.V393M|PTPRT_ENST00000356100.2_Missense_Mutation_p.V393M|PTPRT_ENST00000373193.3_Missense_Mutation_p.V393M	p.V393M	NM_133170.3	NP_573400.3	WXS	Illumina HiSeq	Phase_I	O14522	PTPRT_HUMAN			8	1412	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	NA			Fibronectin type-III 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.1177G>A	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577402	0.86645	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.71	5.71	0.89125	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	L	0.51422	1.61	0.80722	D	1	D;D	0.69078	0.997;0.994	P;P	0.61722	0.893;0.674	T	0.67684	-0.5607	10	0.66056	D	0.02	.	19.8432	0.96699	0.0:1.0:0.0:0.0	.	393;393	O14522-1;O14522	.;PTPRT_HUMAN	M	393	ENSP00000362286:V393M;ENSP00000362283:V393M;ENSP00000362289:V393M;ENSP00000348408:V393M;ENSP00000362294:V393M;ENSP00000362280:V393M;ENSP00000362297:V393M	ENSP00000348408:V393M	V	-	1	0	PTPRT	40534593	0.998000	0.40836	0.965000	0.40720	0.815000	0.46073	3.895000	0.56258	2.700000	0.92200	0.462000	0.41574	GTG		0.562	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	0			20:41101179
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AGGTTCTTGCGCAGAATTCTG	0.383																																						ENST00000442266.1		NA																	0					NA																																														0							g.chr7:65226641G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226641G>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1167	+			NA						RNA	SNP	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	0	NR_003110		7:65226641
USP48	84196	broad.mit.edu	37	1	22030753	22030753	+	Splice_Site	SNP	A	A	G			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:22030753A>G	ENST00000308271.9	-	20	3164		c.e20+1		USP48_ENST00000529637.1_Splice_Site|USP48_ENST00000374732.3_Splice_Site|USP48_ENST00000400301.1_Splice_Site	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48						ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		ATGAAAACTTACTGGGCTCAG	0.368																																						ENST00000308271.9		NA																	0				NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.e20+1		ubiquitin specific peptidase 48							75.0	75.0	75.0					1																	22030753		2203	4300	6503	SO:0001630	splice_region_variant	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22030753A>G	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2515+1T>C	1.37:g.22030753A>G		False	False		Somatic	0				USP48_ENST00000529637.1_Splice_Site|USP48_ENST00000374732.3_Splice_Site|USP48_ENST00000400301.1_Splice_Site		NM_032236.5	NP_115612.4	WXS	Illumina HiSeq	Phase_I	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	20	3164	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	NA					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Splice_Site	SNP	ENST00000308271.9	37		CCDS30623.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.969098	0.74131	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8242	0.70097	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USP48	21903340	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.561000	0.82288	2.094000	0.63399	0.533000	0.62120	.		0.368	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1	0	NM_032236	Intron	1:22030753
S1PR2	9294	broad.mit.edu	37	19	10334708	10334708	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:10334708T>C	ENST00000590320.1	-	2	984	c.874A>G	c.(874-876)Agc>Ggc	p.S292G	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	292					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						AGGTCCCGGCTGCGCCACGTG	0.687																																					Pancreas(194;229 3020 15179 45747)	ENST00000590320.1		NA																	0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(874-876)Agc>Ggc		sphingosine-1-phosphate receptor 2							36.0	38.0	37.0					19																	10334708		2202	4300	6502	SO:0001583	missense	9294				activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10334708T>C	AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.874A>G	19.37:g.10334708T>C	ENSP00000466933:p.Ser292Gly	False	False		Somatic	0					p.S292G	NM_004230.3	NP_004221.3	WXS	Illumina HiSeq	Phase_I	O95136	S1PR2_HUMAN			2	984	-			292					Q86UN8	Missense_Mutation	SNP	ENST00000590320.1	37	c.874A>G	CCDS12229.1	.	.	.	.	.	.	.	.	.	.	T	26.7	4.765117	0.90020	.	.	ENSG00000175898	ENST00000317726	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	L	0.34521	1.04	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.69412	-0.5152	9	0.66056	D	0.02	.	14.5692	0.68200	0.0:0.0:0.0:1.0	.	292	O95136	S1PR2_HUMAN	G	292	.	ENSP00000322049:S292G	S	-	1	0	S1PR2	10195708	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.040000	0.89188	2.091000	0.63221	0.454000	0.30748	AGC		0.687	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	0	NM_004230		19:10334708
SPATC1	375686	broad.mit.edu	37	8	145096207	145096207	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr8:145096207A>G	ENST00000377470.3	+	4	1483	c.1381A>G	c.(1381-1383)Atc>Gtc	p.I461V	SPATC1_ENST00000447830.2_Intron	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	461						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTGTCCAGCATCTTCCCAGA	0.632																																						ENST00000377470.3		NA																	0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1381-1383)Atc>Gtc		spermatogenesis and centriole associated 1							81.0	60.0	67.0					8																	145096207		2203	4300	6503	SO:0001583	missense	375686							g.chr8:145096207A>G	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.1381A>G	8.37:g.145096207A>G	ENSP00000366690:p.Ile461Val	False	False		Somatic	0				SPATC1_ENST00000447830.2_Intron	p.I461V	NM_198572.2	NP_940974.2	WXS	Illumina HiSeq	Phase_I	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	1483	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		461					B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	c.1381A>G	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	A	15.33	2.802272	0.50315	.	.	ENSG00000186583	ENST00000377470	T	0.39056	1.1	4.48	4.48	0.54585	.	0.219834	0.35615	N	0.003091	T	0.40932	0.1137	L	0.42581	1.335	0.80722	D	1	P	0.42584	0.784	P	0.48166	0.569	T	0.12734	-1.0536	10	0.20519	T	0.43	-18.189	10.4401	0.44460	1.0:0.0:0.0:0.0	.	461	Q76KD6	SPERI_HUMAN	V	461	ENSP00000366690:I461V	ENSP00000366690:I461V	I	+	1	0	SPATC1	145168195	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.117000	0.41939	1.794000	0.52575	0.379000	0.24179	ATC		0.632	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	0	NM_198572		8:145096207
NR4A2	4929	broad.mit.edu	37	2	157186342	157186342	+	Silent	SNP	C	C	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr2:157186342C>T	ENST00000339562.4	-	3	719	c.357G>A	c.(355-357)tcG>tcA	p.S119S	NR4A2_ENST00000426264.1_Silent_p.S56S|NR4A2_ENST00000409108.2_Silent_p.S119S|NR4A2_ENST00000429376.1_Silent_p.S56S|NR4A2_ENST00000539077.1_Silent_p.S130S|NR4A2_ENST00000409572.1_Silent_p.S119S	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	119	Gln-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TGTAGTAAACCGACCCGGAGT	0.612																																						ENST00000339562.4		NA																	0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						c.(355-357)tcG>tcA		nuclear receptor subfamily 4, group A, member 2							68.0	73.0	71.0					2																	157186342		2203	4300	6503	SO:0001819	synonymous_variant	0				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr2:157186342C>T	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.357G>A	2.37:g.157186342C>T		False	False		Somatic	0				NR4A2_ENST00000426264.1_Silent_p.S56S|NR4A2_ENST00000429376.1_Silent_p.S56S|NR4A2_ENST00000539077.1_Silent_p.S130S|NR4A2_ENST00000409108.2_Silent_p.S119S|NR4A2_ENST00000409572.1_Silent_p.S119S	p.S119S	NM_006186.3	NP_006177.1	WXS	Illumina HiSeq	Phase_I	P43354	NR4A2_HUMAN			3	719	-			119			Gln-rich.		Q16311|Q53RZ2|Q6NXU0	Silent	SNP	ENST00000339562.4	37	c.357G>A	CCDS2201.1																																																																																				0.612	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2	0			2:157186342
LACE1	246269	broad.mit.edu	37	6	108768484	108768484	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:108768484G>T	ENST00000368977.4	+	8	1061	c.875G>T	c.(874-876)gGa>gTa	p.G292V		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	292						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		CCTGCTGCAGGAAAACTCTAC	0.323																																						ENST00000368977.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15						c.(874-876)gGa>gTa		lactation elevated 1							96.0	99.0	98.0					6																	108768484		2203	4300	6503	SO:0001583	missense	246269						ATP binding	g.chr6:108768484G>T	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.875G>T	6.37:g.108768484G>T	ENSP00000357973:p.Gly292Val	True	False		Somatic	0					p.G292V	NM_145315.3	NP_660358.2	WXS	Illumina HiSeq	Phase_I	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	8	1061	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	292					Q8N6A3	Missense_Mutation	SNP	ENST00000368977.4	37	c.875G>T	CCDS5067.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.55|13.55	2.270717|2.270717	0.40194|0.40194	.|.	.|.	ENSG00000135537|ENSG00000135537	ENST00000421954|ENST00000368977	.|.	.|.	.|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.44582	.|0.1300	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	.|P	.|0.36837	.|0.571	.|B	.|0.38921	.|0.285	.|T	.|0.53844	.|-0.8381	.|9	.|0.66056	.|D	.|0.02	-13.3981|-13.3981	13.1411|13.1411	0.59436|0.59436	0.0731:0.0:0.9269:0.0|0.0731:0.0:0.9269:0.0	.|.	.|292	.|Q8WV93	.|LACE1_HUMAN	X|V	160|292	.|.	.|ENSP00000357973:G292V	E|G	+|+	1|2	0|0	LACE1|LACE1	108875177|108875177	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.690000|4.690000	0.61731|0.61731	2.693000|2.693000	0.91896|0.91896	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.323	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	0	NM_145315		6:108768484
PSG8	440533	broad.mit.edu	37	19	43268187	43268187	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:43268187T>C	ENST00000306511.4	-	2	408	c.311A>G	c.(310-312)aAt>aGt	p.N104S	PSG8_ENST00000404209.4_Missense_Mutation_p.N104S|PSG8_ENST00000401467.2_Missense_Mutation_p.N104S|PSG8_ENST00000406636.3_Intron	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	104	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CAGGGATGCATTGGAATATAT	0.423																																						ENST00000404209.4		NA																	0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(310-312)aAt>aGt		pregnancy specific beta-1-glycoprotein 8							370.0	375.0	373.0					19																	43268187		2203	4299	6502	SO:0001583	missense	0					extracellular region		g.chr19:43268187T>C	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.311A>G	19.37:g.43268187T>C	ENSP00000305005:p.Asn104Ser	False	False		Somatic	0				PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.N104S|PSG8_ENST00000306511.4_Missense_Mutation_p.N104S	p.N104S	NM_001130167.1	NP_001123639.1	WXS	Illumina HiSeq	Phase_I	Q9UQ74	PSG8_HUMAN			2	407	-		Prostate(69;0.00899)	104			Ig-like V-type.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.311A>G	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	t	12.62	1.993629	0.35131	.	.	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.01963	4.53;4.53;4.53	1.35	1.35	0.21983	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.11965	0.0291	M	0.89534	3.04	0.09310	N	1	D;D;D;P;P	0.71674	0.998;0.971;0.963;0.908;0.925	D;P;D;P;P	0.75020	0.985;0.831;0.945;0.716;0.813	T	0.06356	-1.0831	9	0.87932	D	0	.	4.8841	0.13694	0.0:0.0:0.0:1.0	.	104;104;104;104;104	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	S	104	ENSP00000385869:N104S;ENSP00000386090:N104S;ENSP00000305005:N104S	ENSP00000305005:N104S	N	-	2	0	PSG8	47960027	0.108000	0.22018	0.088000	0.20740	0.189000	0.23516	0.679000	0.25291	0.879000	0.35944	0.155000	0.16302	AAT		0.423	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1	0			19:43268187
SLIT3	6586	broad.mit.edu	37	5	168199801	168199801	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr5:168199801T>C	ENST00000519560.1	-	14	1863	c.1444A>G	c.(1444-1446)Aag>Gag	p.K482E	SLIT3_ENST00000404867.3_Missense_Mutation_p.K482E|SLIT3_ENST00000332966.8_Missense_Mutation_p.K482E	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	482	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGCGGAACTTCTTGCTCTTG	0.612																																					Ovarian(29;311 847 10864 17279 24903)	ENST00000519560.1		NA																	0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100						c.(1444-1446)Aag>Gag		slit homolog 3 (Drosophila)							49.0	49.0	49.0					5																	168199801		2203	4300	6503	SO:0001583	missense	6586				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	g.chr5:168199801T>C	AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.1444A>G	5.37:g.168199801T>C	ENSP00000430333:p.Lys482Glu	False	False		Somatic	0				SLIT3_ENST00000404867.3_Missense_Mutation_p.K482E|SLIT3_ENST00000332966.8_Missense_Mutation_p.K482E	p.K482E	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	WXS	Illumina HiSeq	Phase_I	O75094	SLIT3_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		14	1863	-	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	482			LRRCT 2.		A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	ENST00000519560.1	37	c.1444A>G	CCDS4369.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135148	0.77662	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	T;T;T	0.76060	-0.99;-0.97;-0.97	5.49	5.49	0.81192	Cysteine-rich flanking region, C-terminal (2);	0.091877	0.64402	D	0.000001	T	0.66277	0.2773	L	0.28608	0.87	0.80722	D	1	P;P;P	0.50528	0.936;0.738;0.627	B;B;B	0.42245	0.381;0.195;0.369	T	0.71906	-0.4451	10	0.66056	D	0.02	.	15.5931	0.76554	0.0:0.0:0.0:1.0	.	482;482;482	O75094-2;O75094-3;O75094	.;.;SLIT3_HUMAN	E	482	ENSP00000430333:K482E;ENSP00000332164:K482E;ENSP00000384890:K482E	ENSP00000332164:K482E	K	-	1	0	SLIT3	168132379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.033000	0.88852	2.075000	0.62263	0.459000	0.35465	AAG		0.612	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	0	NM_003062		5:168199801
PRAME	23532	broad.mit.edu	37	22	22892513	22892513	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr22:22892513A>C	ENST00000398741.1	-	5	894	c.588T>G	c.(586-588)atT>atG	p.I196M	PRAME_ENST00000405655.3_Missense_Mutation_p.I196M|PRAME_ENST00000424204.2_Missense_Mutation_p.I180M|PRAME_ENST00000539862.1_Missense_Mutation_p.I180M|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000543184.1_Missense_Mutation_p.I196M|PRAME_ENST00000398743.2_Missense_Mutation_p.I196M|PRAME_ENST00000402697.1_Missense_Mutation_p.I196M	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	196					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TCACTTTCTCAATGAGGTAGG	0.458																																					Melanoma(73;1707 1838 15168 27201)	ENST00000543184.1		NA																	0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(586-588)atT>atG		preferentially expressed antigen in melanoma							153.0	146.0	148.0					22																	22892513		2203	4300	6503	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22892513A>C	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.588T>G	22.37:g.22892513A>C	ENSP00000381726:p.Ile196Met	False	False		Somatic	0				PRAME_ENST00000424204.2_Missense_Mutation_p.I180M|PRAME_ENST00000398741.1_Missense_Mutation_p.I196M|PRAME_ENST00000398743.2_Missense_Mutation_p.I196M|PRAME_ENST00000405655.3_Missense_Mutation_p.I196M|PRAME_ENST00000402697.1_Missense_Mutation_p.I196M|PRAME_ENST00000539862.1_Missense_Mutation_p.I180M	p.I196M	NM_206953.1	NP_996836.1	WXS	Illumina HiSeq	Phase_I	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	4	1450	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	196					B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.588T>G	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	.	4.313	0.057476	0.08339	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204;ENST00000439106	T;T;T;T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45;2.45;2.45;2.45	3.24	-5.23	0.02798	.	1.278720	0.05507	N	0.559414	T	0.10337	0.0253	N	0.17800	0.525	0.09310	N	1	B	0.28208	0.203	B	0.28465	0.09	T	0.30119	-0.9989	10	0.39692	T	0.17	.	7.634	0.28255	0.3112:0.508:0.1808:0.0	.	196	P78395	PRAME_HUMAN	M	196;196;196;196;180;196;180;196	ENSP00000381728:I196M;ENSP00000445675:I196M;ENSP00000381726:I196M;ENSP00000384343:I196M;ENSP00000445097:I180M;ENSP00000385198:I196M;ENSP00000407342:I180M;ENSP00000407320:I196M	ENSP00000381726:I196M	I	-	3	3	PRAME	21222513	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.489000	0.02306	-2.030000	0.00929	-1.256000	0.01477	ATT		0.458	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	0	NM_206953		22:22892513
TTN	7273	broad.mit.edu	37	2	179476557	179476557	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr2:179476557G>A	ENST00000591111.1	-	218	45780	c.45556C>T	c.(45556-45558)Cgg>Tgg	p.R15186W	TTN_ENST00000589042.1_Missense_Mutation_p.R16827W|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7887W|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R14259W|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R7762W|TTN_ENST00000342175.6_Missense_Mutation_p.R7954W			Q8WZ42	TITIN_HUMAN	titin	15186	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R7762W(1)|p.R7954W(1)|p.R14259W(1)|p.R7887W(1)		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)			TTTTCAGCCCGAACCTGAAAC	0.458																																						ENST00000589042.1		NA																	4	Substitution - Missense(4)	p.R7762W(1)|p.R7954W(1)|p.R14259W(1)|p.R7887W(1)	large_intestine(4)	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.(50479-50481)Cgg>Tgg		titin							130.0	124.0	126.0					2																	179476557		1922	4140	6062	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179476557G>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.45556C>T	2.37:g.179476557G>A	ENSP00000465570:p.Arg15186Trp	True	False		Somatic	0				TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7954W|TTN_ENST00000591111.1_Missense_Mutation_p.R15186W|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7887W|TTN_ENST00000460472.2_Missense_Mutation_p.R7762W|TTN_ENST00000342992.6_Missense_Mutation_p.R14259W|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA	p.R16827W	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)		268	50703	-			15186			Ig-like 101.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.50479C>T		.	.	.	.	.	.	.	.	.	.	G	8.954	0.968839	0.18659	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59083	0.29;0.29;0.29;0.29	5.97	3.08	0.35506	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72285	0.3441	M	0.78801	2.425	0.43988	D	0.996681	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.69654	0.965;0.965;0.965;0.965	T	0.73924	-0.3829	9	0.87932	D	0	.	10.0401	0.42153	0.0646:0.0:0.6758:0.2596	.	7762;7887;7954;15186	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	14259;7762;7954;7887;7762	ENSP00000343764:R14259W;ENSP00000434586:R7762W;ENSP00000340554:R7954W;ENSP00000352154:R7887W	ENSP00000340554:R7954W	R	-	1	2	TTN	179184802	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	2.635000	0.46537	0.784000	0.33661	-0.188000	0.12872	CGG		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179476557
EMC8	10328	broad.mit.edu	37	16	85832764	85832764	+	Silent	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr16:85832764G>A	ENST00000253457.3	-	1	382	c.138C>T	c.(136-138)ggC>ggT	p.G46G	EMC8_ENST00000435200.2_Silent_p.G46G|COX4I1_ENST00000562336.1_5'Flank|COX4I1_ENST00000564903.1_5'Flank|COX4I1_ENST00000568794.1_5'Flank|COX4I1_ENST00000561569.1_5'Flank|COX4I1_ENST00000253452.2_5'Flank	NM_006067.4	NP_006058.1	O43402	EMC8_HUMAN	ER membrane protein complex subunit 8	46						cytoplasm (GO:0005737)|ER membrane protein complex (GO:0072546)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GGGCGCCGGGGCCGCCCAGGG	0.697																																						ENST00000253457.3		NA																	0					NA						c.(136-138)ggC>ggT		ER membrane protein complex subunit 8							15.0	18.0	17.0					16																	85832764		2195	4294	6489	SO:0001819	synonymous_variant	10328							g.chr16:85832764G>A	AF005888	CCDS10954.1, CCDS45541.1	16q24	2012-05-30	2012-05-30	2012-05-30	ENSG00000131148	ENSG00000131148			7864	protein-coding gene	gene with protein product	"""family with sequence similarity 158, member B"""	604886	"""chromosome 16 open reading frame 4"", ""neighbor of COX4"", ""chromosome 16 open reading frame 2"", ""COX4 neighbor"""	C16orf4, NOC4, C16orf2, COX4NB		10337626, 22119785	Standard	NM_006067		Approved	FAM158B	uc002fjd.3	O43402	OTTHUMG00000137647	ENST00000253457.3:c.138C>T	16.37:g.85832764G>A		True	False		Somatic	0				EMC8_ENST00000435200.2_Silent_p.G46G	p.G46G	NM_006067.4	NP_006058.1	WXS	Illumina HiSeq	Phase_I					1	382	-			NA					C9JB21	Silent	SNP	ENST00000253457.3	37	c.138C>T	CCDS10954.1																																																																																				0.697	EMC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269099.1	0	NM_006067		16:85832764
GGTLC1	92086	broad.mit.edu	37	20	23966551	23966551	+	Missense_Mutation	SNP	C	C	T	rs143742821	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr20:23966551C>T	ENST00000335694.4	-	4	569	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	GGTLC1_ENST00000278765.4_Missense_Mutation_p.R122Q|GGTLC1_ENST00000286890.4_Missense_Mutation_p.R122Q	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	122					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CACCACCATCCGGACCTGGCC	0.662													.|||	12	0.00239617	0.0091	0.0	5008	,	,		13759	0.0		0.0	False		,,,				2504	0.0					ENST00000335694.4		NA																	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(364-366)cGg>cAg		gamma-glutamyltransferase light chain 1		C	GLN/ARG,GLN/ARG	18,3004		0,18,1493	86.0	96.0	93.0		365,365	0.8	0.2	20	dbSNP_134	93	0,5418		0,0,2709	no	missense,missense	GGTLC1	NM_178311.2,NM_178312.2	43,43	0,18,4202	TT,TC,CC		0.0,0.5956,0.2133	possibly-damaging,possibly-damaging	122/226,122/226	23966551	18,8422	1511	2709	4220	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23966551C>T	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.365G>A	20.37:g.23966551C>T	ENSP00000337587:p.Arg122Gln	False	False		Somatic	0				GGTLC1_ENST00000286890.4_Missense_Mutation_p.R122Q|GGTLC1_ENST00000278765.4_Missense_Mutation_p.R122Q	p.R122Q	NM_178311.2	NP_842563.1	WXS	Illumina HiSeq	Phase_I	Q9BX51	GGTL1_HUMAN			4	569	-			122					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.365G>A	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	c	12.08	1.830751	0.32329	0.005956	0.0	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.08370	3.1;3.1;3.1	0.844	0.844	0.18943	.	0.384153	0.26627	N	0.023330	T	0.04815	0.0130	M	0.62016	1.91	0.27078	N	0.96317	B	0.31581	0.329	B	0.25291	0.059	T	0.22347	-1.0219	10	0.38643	T	0.18	-48.6079	3.7845	0.08694	0.0:0.6622:0.0:0.3378	.	122	Q9BX51	GGTL1_HUMAN	Q	122	ENSP00000286890:R122Q;ENSP00000278765:R122Q;ENSP00000337587:R122Q	ENSP00000278765:R122Q	R	-	2	0	GGTLC1	23914551	1.000000	0.71417	0.178000	0.23040	0.195000	0.23768	1.410000	0.34691	0.088000	0.17205	0.089000	0.15464	CGG		0.662	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	0	NM_178311.2		20:23966551
WWP2	11060	broad.mit.edu	37	16	69973005	69973005	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr16:69973005G>A	ENST00000359154.2	+	22	2520	c.2419G>A	c.(2419-2421)Ggg>Agg	p.G807R	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Missense_Mutation_p.G807R|WWP2_ENST00000448661.1_Missense_Mutation_p.G807R|WWP2_ENST00000568684.1_Missense_Mutation_p.G368R|WWP2_ENST00000542271.1_Missense_Mutation_p.G691R	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	807	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTGCCCGTCGGGGGATTTGC	0.597																																						ENST00000359154.2		NA																	0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2419-2421)Ggg>Agg		WW domain containing E3 ubiquitin protein ligase 2							76.0	61.0	66.0					16																	69973005		2197	4300	6497	SO:0001583	missense	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69973005G>A	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2419G>A	16.37:g.69973005G>A	ENSP00000352069:p.Gly807Arg	True	False		Somatic	0				WWP2_ENST00000568684.1_Missense_Mutation_p.G368R|WWP2_ENST00000542271.1_Missense_Mutation_p.G691R|WWP2_ENST00000448661.1_Missense_Mutation_p.G807R|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000356003.2_Missense_Mutation_p.G807R	p.G807R	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	WXS	Illumina HiSeq	Phase_I	O00308	WWP2_HUMAN			22	2520	+			807			HECT.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	ENST00000359154.2	37	c.2419G>A	CCDS10885.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.058259	0.76074	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.16	5.16	0.70880	HECT (4);	0.000000	0.85682	D	0.000000	T	0.81250	0.4783	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84898	0.0840	9	.	.	.	.	18.6562	0.91455	0.0:0.0:1.0:0.0	.	807	O00308	WWP2_HUMAN	R	807;807;807;694;691	ENSP00000352069:G807R;ENSP00000396871:G807R;ENSP00000348283:G807R;ENSP00000445616:G691R	.	G	+	1	0	WWP2	68530506	1.000000	0.71417	0.969000	0.41365	0.092000	0.18411	9.824000	0.99380	2.410000	0.81850	0.561000	0.74099	GGG		0.597	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	0	NM_007014		16:69973005
ZFYVE28	57732	broad.mit.edu	37	4	2341323	2341323	+	Silent	SNP	C	C	T	rs200371392	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr4:2341323C>T	ENST00000290974.2	-	4	717	c.378G>A	c.(376-378)ccG>ccA	p.P126P	ZFYVE28_ENST00000505421.1_5'Flank|ZFYVE28_ENST00000511071.1_Silent_p.P126P|ZFYVE28_ENST00000515312.1_Silent_p.P56P|ZFYVE28_ENST00000503000.1_Silent_p.P126P|ZFYVE28_ENST00000509171.1_Silent_p.P79P|ZFYVE28_ENST00000515169.1_Silent_p.P56P	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	126					negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCTTGGCCAGCGGGCGCATGG	0.692													C|||	2	0.000399361	0.0015	0.0	5008	,	,		11616	0.0		0.0	False		,,,				2504	0.0					ENST00000290974.2		NA																	0				NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						c.(376-378)ccG>ccA		zinc finger, FYVE domain containing 28							39.0	36.0	37.0					4																	2341323		2202	4298	6500	SO:0001819	synonymous_variant	57732				negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr4:2341323C>T	AK126692	CCDS33942.1, CCDS54708.1, CCDS54709.1, CCDS54710.1, CCDS54711.1, CCDS54712.1	4p16.3	2008-05-02			ENSG00000159733	ENSG00000159733		"""Zinc fingers, FYVE domain containing"""	29334	protein-coding gene	gene with protein product		614176				10997877	Standard	NM_020972		Approved	KIAA1643	uc003gex.2	Q9HCC9	OTTHUMG00000160292	ENST00000290974.2:c.378G>A	4.37:g.2341323C>T		True	False		Somatic	0				ZFYVE28_ENST00000511071.1_Silent_p.P126P|ZFYVE28_ENST00000515312.1_Silent_p.P56P|ZFYVE28_ENST00000515169.1_Silent_p.P56P|ZFYVE28_ENST00000503000.1_Silent_p.P126P|ZFYVE28_ENST00000509171.1_Silent_p.P79P	p.P126P	NM_020972.2	NP_066023.2	WXS	Illumina HiSeq	Phase_I	Q9HCC9	LST2_HUMAN			4	717	-			126					B2RP83|B3KX50|B7Z1Q7|B7Z2G9|B7Z2M2|B7ZB19|E9PB54|E9PB64|E9PG77|Q7Z6J3	Silent	SNP	ENST00000290974.2	37	c.378G>A	CCDS33942.1																																																																																				0.692	ZFYVE28-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360078.1	0	XM_035371		4:2341323
SZT2	23334	broad.mit.edu	37	1	43888232	43888232	+	Silent	SNP	G	G	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:43888232G>T	ENST00000562955.1	+	13	1851	c.1851G>T	c.(1849-1851)ctG>ctT	p.L617L	SZT2_ENST00000372442.1_5'Flank	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	617					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTCCTCCCTGACCTCTCTGC	0.582																																						ENST00000562955.1		NA																	0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(1849-1851)ctG>ctT		seizure threshold 2 homolog (mouse)							96.0	91.0	92.0					1																	43888232		876	1991	2867	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43888232G>T	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.1851G>T	1.37:g.43888232G>T		False	False		Somatic	0					p.L617L	NM_015284.3	NP_056099.3	WXS	Illumina HiSeq	Phase_I	Q5T011	SZT2_HUMAN			13	1851	+			617					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.1851G>T	CCDS30694.2																																																																																				0.582	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	0	NM_015284		1:43888232
MACF1	23499	broad.mit.edu	37	1	39749752	39749752	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:39749752G>T	ENST00000372915.3	+	9	1032	c.945G>T	c.(943-945)agG>agT	p.R315S	MACF1_ENST00000545844.1_Missense_Mutation_p.R315S|MACF1_ENST00000539005.1_Missense_Mutation_p.R315S|MACF1_ENST00000361689.2_Missense_Mutation_p.R315S|MACF1_ENST00000317713.7_Missense_Mutation_p.R315S|MACF1_ENST00000564288.1_Missense_Mutation_p.R310S|MACF1_ENST00000567887.1_Missense_Mutation_p.R347S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	315					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGACTCCAGGTGGCAAGAAT	0.443																																						ENST00000564288.1		NA																	0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(928-930)agG>agT		microtubule-actin crosslinking factor 1							110.0	106.0	107.0					1																	39749752		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39749752G>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.945G>T	1.37:g.39749752G>T	ENSP00000362006:p.Arg315Ser	False	False		Somatic	0				MACF1_ENST00000567887.1_Missense_Mutation_p.R347S|MACF1_ENST00000361689.2_Missense_Mutation_p.R315S|MACF1_ENST00000539005.1_Missense_Mutation_p.R315S|MACF1_ENST00000317713.7_Missense_Mutation_p.R315S|MACF1_ENST00000545844.1_Missense_Mutation_p.R315S|MACF1_ENST00000372915.3_Missense_Mutation_p.R315S	p.R310S			WXS	Illumina HiSeq	Phase_I	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		10	1707	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	315					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.930G>T		.	.	.	.	.	.	.	.	.	.	G	16.69	3.192152	0.58017	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000404645;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	T;T;T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3;-0.3;-0.3	5.4	4.48	0.54585	.	.	.	.	.	T	0.64516	0.2605	L	0.35249	1.045	0.80722	D	1	B;D	0.62365	0.066;0.991	B;P	0.54026	0.041;0.74	T	0.66995	-0.5782	9	0.87932	D	0	.	9.0036	0.36097	0.0793:0.1485:0.7721:0.0	.	315;280	F8W8Q1;Q9UPN3-3	.;.	S	315;315;315;331;315;315;273;464;475	ENSP00000439537:R315S;ENSP00000362006:R315S;ENSP00000354573:R315S;ENSP00000313438:R315S;ENSP00000444364:R315S;ENSP00000435070:R273S;ENSP00000437059:R464S	ENSP00000313438:R315S	R	+	3	2	MACF1	39522339	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.617000	0.24359	1.249000	0.43950	0.561000	0.74099	AGG		0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	NM_033044		1:39749752
FCGR2B	2213	broad.mit.edu	37	1	161645099	161645099	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:161645099A>T	ENST00000358671.5	+	6	894	c.813A>T	c.(811-813)aaA>aaT	p.K271N	FCGR2B_ENST00000367962.4_Missense_Mutation_p.K271N|FCGR2B_ENST00000236937.9_Intron|FCGR2B_ENST00000403078.3_Intron|RP11-25K21.1_ENST00000453111.1_RNA|FCGR2B_ENST00000367960.5_Missense_Mutation_p.K264N|FCGR2B_ENST00000367961.4_Missense_Mutation_p.K264N	NM_001002275.2|NM_004001.4	NP_001002275.1|NP_003992.3	P31994	FCG2B_HUMAN	Fc fragment of IgG, low affinity IIb, receptor (CD32)	271					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)						all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Antithymocyte globulin(DB00098)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCCTGAGAAACCAGGTGAGT	0.602			T	?	ALL																																	ENST00000367962.4		NA		Dom	yes		1	1q23	2213	T	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""			L	?		ALL		0					NA						c.(811-813)aaA>aaT		Fc fragment of IgG, low affinity IIb, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						18.0	16.0	17.0					1																	161645099		2200	4298	6498	SO:0001583	missense	2213				immune response|interspecies interaction between organisms|regulation of immune response	integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161645099A>T	BC031992	CCDS30924.1, CCDS30925.1, CCDS53414.1	1q23	2013-01-11	2005-02-02		ENSG00000072694	ENSG00000072694		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3618	protein-coding gene	gene with protein product		604590	"""Fc fragment of IgG, low affinity IIb, receptor for (CD32)"""	FCG2, FCGR2		2139735	Standard	NM_004001		Approved	CD32, CD32B	uc001gaz.2	P31994	OTTHUMG00000034470	ENST00000358671.5:c.813A>T	1.37:g.161645099A>T	ENSP00000351497:p.Lys271Asn	True	False		Somatic	0				FCGR2B_ENST00000236937.9_Intron|FCGR2B_ENST00000367960.5_Missense_Mutation_p.K264N|FCGR2B_ENST00000403078.3_Intron|FCGR2B_ENST00000358671.5_Missense_Mutation_p.K271N|FCGR2B_ENST00000367961.4_Missense_Mutation_p.K264N	p.K271N			WXS	Illumina HiSeq	Phase_I	P31994	FCG2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		6	940	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		271					A6H8N3|O95649|Q53X85|Q5VXA9|Q8NIA1	Missense_Mutation	SNP	ENST00000358671.5	37	c.813A>T	CCDS30924.1	.	.	.	.	.	.	.	.	.	.	A	11.24	1.579357	0.28180	.	.	ENSG00000072694	ENST00000367962;ENST00000367960;ENST00000367961;ENST00000358671	T;T;T;T	0.32272	4.59;1.46;1.46;4.59	5.06	-5.67	0.02444	.	7.541930	0.00550	N	0.000242	T	0.03220	0.0094	N	0.08118	0	0.24714	N	0.993181	B;P	0.35011	0.063;0.48	B;B	0.21917	0.037;0.026	T	0.11108	-1.0601	10	0.38643	T	0.18	.	3.0765	0.06248	0.2125:0.2573:0.4044:0.1258	.	264;271	P31994-3;P31994	.;FCG2B_HUMAN	N	271;264;264;271	ENSP00000356939:K271N;ENSP00000356937:K264N;ENSP00000356938:K264N;ENSP00000351497:K271N	ENSP00000351497:K271N	K	+	3	2	FCGR2B	159911723	0.000000	0.05858	0.213000	0.23690	0.463000	0.32649	-1.239000	0.02916	-1.009000	0.03400	-0.466000	0.05196	AAA		0.602	FCGR2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000083337.4	0	NM_004001		1:161645099
MTG1	92170	broad.mit.edu	37	10	135215660	135215660	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr10:135215660A>G	ENST00000317502.6	+	8	631	c.581A>G	c.(580-582)gAg>gGg	p.E194G	MTG1_ENST00000477902.2_Missense_Mutation_p.E153G|RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.E199G	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	194	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		CAGGTCTCTGAGCGGCCCCTG	0.657																																						ENST00000468317.2		NA																	0					NA						c.(595-597)gAg>gGg									92.0	94.0	94.0					10																	135215660		2203	4300	6503	SO:0001583	missense	0							g.chr10:135215660A>G		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.581A>G	10.37:g.135215660A>G	ENSP00000323047:p.Glu194Gly	False	False		Somatic	0				MTG1_ENST00000317502.6_Missense_Mutation_p.E194G|MTG1_ENST00000477902.2_Missense_Mutation_p.E153G	p.E199G			WXS	Illumina HiSeq	Phase_I					9	851	+			NA					Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	c.596A>G	CCDS31320.1	.	.	.	.	.	.	.	.	.	.	a	15.43	2.831567	0.50845	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508	T;T;T	0.14144	3.04;3.04;2.53	5.59	5.59	0.84812	GTP-binding domain, HSR1-related (1);	0.099558	0.64402	D	0.000002	T	0.15392	0.0371	L	0.35854	1.095	0.58432	D	0.999995	B;B	0.29136	0.008;0.234	B;B	0.37451	0.037;0.25	T	0.10154	-1.0642	10	0.29301	T	0.29	-25.2729	13.7015	0.62611	1.0:0.0:0.0:0.0	.	143;194	E7EVK2;Q9BT17	.;MTG1_HUMAN	G	199;194;143	ENSP00000436767:E199G;ENSP00000323047:E194G;ENSP00000393480:E143G	ENSP00000323047:E194G	E	+	2	0	AL360181.1;MTG1	135065650	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	5.721000	0.68477	2.126000	0.65437	0.366000	0.22137	GAG		0.657	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	0	NM_138384		10:135215660
CEP70	80321	broad.mit.edu	37	3	138289266	138289266	+	Missense_Mutation	SNP	T	T	C	rs143423470		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr3:138289266T>C	ENST00000264982.3	-	6	625	c.359A>G	c.(358-360)gAa>gGa	p.E120G	CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000481834.1_Missense_Mutation_p.E120G|CEP70_ENST00000464035.1_Missense_Mutation_p.E120G|CEP70_ENST00000542237.1_Missense_Mutation_p.E100G|CEP70_ENST00000484888.1_Missense_Mutation_p.E120G	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	120					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						TTTCACACTTTCCATAATTTG	0.363																																						ENST00000264982.3		NA																	0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						c.(358-360)gAa>gGa		centrosomal protein 70kDa		T	GLY/GLU	0,4406		0,0,2203	154.0	144.0	147.0		359	3.8	1.0	3	dbSNP_134	147	1,8599		0,1,4299	no	missense	CEP70	NM_024491.2	98	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	120/598	138289266	1,13005	2203	4300	6503	SO:0001583	missense	80321				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr3:138289266T>C	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.359A>G	3.37:g.138289266T>C	ENSP00000264982:p.Glu120Gly	True	False		Somatic	0				CEP70_ENST00000489254.1_Intron|CEP70_ENST00000542237.1_Missense_Mutation_p.E100G|CEP70_ENST00000464035.1_Missense_Mutation_p.E120G|CEP70_ENST00000481834.1_Missense_Mutation_p.E120G|CEP70_ENST00000484888.1_Missense_Mutation_p.E120G|CEP70_ENST00000478673.1_5'UTR	p.E120G	NM_024491.2	NP_077817.2	WXS	Illumina HiSeq	Phase_I	Q8NHQ1	CEP70_HUMAN			6	625	-			120					B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	37	c.359A>G	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.563176	0.27915	0.0	1.16E-4	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000484888;ENST00000474781;ENST00000481834;ENST00000468900;ENST00000462419;ENST00000464035	T;T;T;T;T;T;T;T	0.55052	1.18;1.19;1.18;1.19;1.17;0.6;0.59;0.54	4.98	3.83	0.44106	.	0.414678	0.25897	N	0.027597	T	0.42086	0.1187	L	0.47716	1.5	0.27515	N	0.95157	P;P;P	0.42692	0.787;0.787;0.787	B;B;B	0.39379	0.23;0.298;0.23	T	0.33979	-0.9847	10	0.41790	T	0.15	-4.5495	7.2698	0.26250	0.0:0.0985:0.0:0.9015	.	100;120;120	F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;CEP70_HUMAN	G	120;100;120;102;120;99;100;120	ENSP00000264982:E120G;ENSP00000444128:E100G;ENSP00000419231:E120G;ENSP00000419833:E102G;ENSP00000417465:E120G;ENSP00000418131:E99G;ENSP00000417819:E100G;ENSP00000419743:E120G	ENSP00000264982:E120G	E	-	2	0	CEP70	139771956	1.000000	0.71417	0.999000	0.59377	0.202000	0.24057	4.295000	0.59049	0.932000	0.37266	-0.256000	0.11100	GAA		0.363	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	0	NM_024491		3:138289266
C3	718	broad.mit.edu	37	19	6718398	6718398	+	Nonsense_Mutation	SNP	G	G	C			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr19:6718398G>C	ENST00000245907.6	-	3	385	c.293C>G	c.(292-294)tCa>tGa	p.S98*		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	98					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CCCCTTTTCTGACTTGAACTC	0.617																																						ENST00000245907.6		NA																	0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(292-294)tCa>tGa		complement component 3							127.0	111.0	116.0					19																	6718398		2203	4300	6503	SO:0001587	stop_gained	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6718398G>C	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.293C>G	19.37:g.6718398G>C	ENSP00000245907:p.Ser98*	False	False		Somatic	0					p.S98*	NM_000064.2	NP_000055.2	WXS	Illumina HiSeq	Phase_I	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	3	385	-			98					A7E236	Nonsense_Mutation	SNP	ENST00000245907.6	37	c.293C>G	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921397	0.52653	.	.	ENSG00000125730	ENST00000245907	.	.	.	4.91	-2.07	0.07276	.	0.977062	0.08245	U	0.975475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	5.0519	0.14513	0.1702:0.0:0.4561:0.3737	.	.	.	.	X	98	.	ENSP00000245907:S98X	S	-	2	0	C3	6669398	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.382000	0.20635	0.117000	0.18138	-0.396000	0.06452	TCA		0.617	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	0	NM_000064		19:6718398
PAX1	5075	broad.mit.edu	37	20	21689881	21689881	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr20:21689881G>A	ENST00000398485.2	+	4	1135	c.1081G>A	c.(1081-1083)Gtg>Atg	p.V361M	PAX1_ENST00000444366.2_Missense_Mutation_p.V337M|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	361					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCTCTCTGCCGTGGGCGGCTT	0.697																																						ENST00000398485.2		NA																	0				autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						c.(1081-1083)Gtg>Atg		paired box 1							56.0	69.0	65.0					20																	21689881		2198	4281	6479	SO:0001583	missense	5075				regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr20:21689881G>A		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1081G>A	20.37:g.21689881G>A	ENSP00000381499:p.Val361Met	False	False		Somatic	0				PAX1_ENST00000444366.2_Missense_Mutation_p.V337M|PAX1_ENST00000460221.1_3'UTR	p.V361M	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	WXS	Illumina HiSeq	Phase_I	P15863	PAX1_HUMAN			4	1135	+			361					B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	ENST00000398485.2	37	c.1081G>A	CCDS13146.2	.	.	.	.	.	.	.	.	.	.	G	14.29	2.491158	0.44249	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98862	-4.78;-5.19	5.66	4.71	0.59529	.	0.070054	0.64402	D	0.000019	D	0.97704	0.9247	M	0.73962	2.25	0.37476	D	0.915822	D;P;D	0.57257	0.968;0.852;0.979	B;B;P	0.44518	0.332;0.079;0.452	D	0.97965	1.0340	10	0.54805	T	0.06	.	11.8979	0.52665	0.1451:0.0:0.8549:0.0	.	337;267;361	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	M	361;337	ENSP00000381499:V361M;ENSP00000410355:V337M	ENSP00000381499:V361M	V	+	1	0	PAX1	21637881	0.998000	0.40836	0.888000	0.34837	0.476000	0.33039	3.037000	0.49775	1.392000	0.46585	0.462000	0.41574	GTG		0.697	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078282.3	0			20:21689881
IGHD	3495	broad.mit.edu	37	14	106311716	106311716	+	RNA	SNP	C	C	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr14:106311716C>T	ENST00000390556.2	-	0	294							P01880	IGHD_HUMAN	immunoglobulin heavy constant delta						immune response (GO:0006955)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										ACCTGGCCAGCGGAAGATCTC	0.627																																						ENST00000390556.2		NA																	0					NA															57.0	55.0	56.0					14																	106311716		2116	4205	6321			0							g.chr14:106311716C>T	K02875		14q32.33	2012-03-09			ENSG00000211898	ENSG00000211898		"""Immunoglobulins / IGH locus"""	5480	other	immunoglobulin gene	"""immunoglobulin delta"", ""constant region of heavy chain of IgD"""	147170				3922054	Standard	NG_001019		Approved	FLJ00382, FLJ46727, MGC29633	uc001ysj.3	P01880	OTTHUMG00000152538		14.37:g.106311716C>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	294	-			NA					Q6P4I8|Q8WU38	RNA	SNP	ENST00000390556.2	37																																																																																						0.627	IGHD-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326652.1	0	NG_001019		14:106311716
CLIP4	79745	broad.mit.edu	37	2	29404502	29404502	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr2:29404502G>A	ENST00000320081.5	+	16	2116	c.1861G>A	c.(1861-1863)Gtg>Atg	p.V621M	CLIP4_ENST00000481628.1_3'UTR|CLIP4_ENST00000404424.1_Missense_Mutation_p.V621M|CLIP4_ENST00000401617.2_Missense_Mutation_p.V514M	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	621										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TGAAGGGAGCGTGAAGCTGCA	0.542																																						ENST00000320081.5		NA																	0				endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26						c.(1861-1863)Gtg>Atg		CAP-GLY domain containing linker protein family, member 4							91.0	82.0	85.0					2																	29404502		2203	4300	6503	SO:0001583	missense	79745							g.chr2:29404502G>A	AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1861G>A	2.37:g.29404502G>A	ENSP00000327009:p.Val621Met	False	False		Somatic	0				CLIP4_ENST00000404424.1_Missense_Mutation_p.V621M|CLIP4_ENST00000481628.1_3'UTR|CLIP4_ENST00000401617.2_Missense_Mutation_p.V514M	p.V621M	NM_024692.4	NP_078968.3	WXS	Illumina HiSeq	Phase_I	Q8N3C7	CLIP4_HUMAN			16	2116	+	Acute lymphoblastic leukemia(172;0.155)		621					A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Missense_Mutation	SNP	ENST00000320081.5	37	c.1861G>A	CCDS1770.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664449	0.88251	.	.	ENSG00000115295	ENST00000401617;ENST00000404424;ENST00000402240;ENST00000320081;ENST00000379543;ENST00000530644	T;T;T	0.77358	-1.09;-0.82;-0.82	5.6	5.6	0.85130	Cytoskeleton-associated protein, Gly-rich domain (2);	0.206120	0.41097	D	0.000956	T	0.80497	0.4634	L	0.29908	0.895	0.80722	D	1	D	0.67145	0.996	P	0.57846	0.828	T	0.80538	-0.1338	10	0.46703	T	0.11	.	19.6109	0.95606	0.0:0.0:1.0:0.0	.	621	Q8N3C7	CLIP4_HUMAN	M	514;621;623;621;639;581	ENSP00000385148:V514M;ENSP00000385594:V621M;ENSP00000327009:V621M	ENSP00000327009:V621M	V	+	1	0	CLIP4	29258006	1.000000	0.71417	0.904000	0.35570	0.887000	0.51463	7.111000	0.77077	2.653000	0.90120	0.491000	0.48974	GTG		0.542	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2	0	NM_024692		2:29404502
TM9SF1	10548	broad.mit.edu	37	14	24659700	24659700	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr14:24659700G>A	ENST00000261789.4	-	5	1671	c.1313C>T	c.(1312-1314)gCc>gTc	p.A438V	TM9SF1_ENST00000530611.1_Missense_Mutation_p.A647V|TM9SF1_ENST00000556387.1_Missense_Mutation_p.A647V|TM9SF1_ENST00000396854.4_Missense_Mutation_p.A438V|TM9SF1_ENST00000528669.1_Missense_Mutation_p.A438V|RP11-468E2.2_ENST00000561419.1_5'Flank|TM9SF1_ENST00000524835.1_Missense_Mutation_p.A351V|IPO4_ENST00000354464.6_5'Flank	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	438					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		AAAGGGGCTGGCGTTGTTCTT	0.577																																						ENST00000556387.1		NA																	0				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24						c.(1939-1941)gCc>gTc		transmembrane 9 superfamily member 1							144.0	116.0	126.0					14																	24659700		2203	4300	6503	SO:0001583	missense	10548				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr14:24659700G>A	U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1313C>T	14.37:g.24659700G>A	ENSP00000261789:p.Ala438Val	False	False		Somatic	0				TM9SF1_ENST00000528669.1_Missense_Mutation_p.A438V|TM9SF1_ENST00000396854.4_Missense_Mutation_p.A438V|TM9SF1_ENST00000524835.1_Missense_Mutation_p.A351V|TM9SF1_ENST00000261789.4_Missense_Mutation_p.A438V|TM9SF1_ENST00000530611.1_Missense_Mutation_p.A647V	p.A647V			WXS	Illumina HiSeq	Phase_I	O15321	TM9S1_HUMAN		GBM - Glioblastoma multiforme(265;0.0183)	9	1973	-			438					D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	ENST00000261789.4	37	c.1940C>T	CCDS9617.1	.	.	.	.	.	.	.	.	.	.	G	33	5.206576	0.95033	.	.	ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000396854;ENST00000530611	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.02	5.02	0.67125	.	0.056859	0.64402	D	0.000001	T	0.51381	0.1671	M	0.66297	2.02	0.80722	D	1	P;P	0.43662	0.599;0.814	P;P	0.47346	0.472;0.544	T	0.55909	-0.8066	10	0.56958	D	0.05	-4.0085	15.8364	0.78801	0.0:0.0:1.0:0.0	.	438;438	Q86SZ6;O15321	.;TM9S1_HUMAN	V	438;438;647;351;438;647	ENSP00000261789:A438V;ENSP00000432997:A438V;ENSP00000451949:A647V;ENSP00000434387:A351V;ENSP00000380063:A438V;ENSP00000433967:A647V	ENSP00000433967:A647V	A	-	2	0	TM9SF1;RP11-468E2.1	23729540	1.000000	0.71417	0.996000	0.52242	0.982000	0.71751	8.286000	0.89916	2.317000	0.78254	0.655000	0.94253	GCC		0.577	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000073136.2	0	NM_006405		14:24659700
CTR9	9646	broad.mit.edu	37	11	10785352	10785352	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:10785352A>C	ENST00000361367.2	+	9	1546	c.1120A>C	c.(1120-1122)Aat>Cat	p.N374H		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	374					cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTATCCTAATAATTACGAAAC	0.358																																						ENST00000361367.2		NA																	0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40						c.(1120-1122)Aat>Cat		CTR9, Paf1/RNA polymerase II complex component							78.0	83.0	81.0					11																	10785352		2200	4293	6493	SO:0001583	missense	9646				histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck		g.chr11:10785352A>C	D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.1120A>C	11.37:g.10785352A>C	ENSP00000355013:p.Asn374His	False	False		Somatic	0					p.N374H	NM_014633.3	NP_055448.1	WXS	Illumina HiSeq	Phase_I	Q6PD62	CTR9_HUMAN		all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	9	1546	+			374					D3DQV8|Q15015	Missense_Mutation	SNP	ENST00000361367.2	37	c.1120A>C	CCDS7805.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294603	0.81025	.	.	ENSG00000198730	ENST00000361367	T	0.52983	0.64	5.62	5.62	0.85841	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.74833	-0.3530	10	0.33940	T	0.23	-32.6144	16.1172	0.81314	1.0:0.0:0.0:0.0	.	374	Q6PD62	CTR9_HUMAN	H	374	ENSP00000355013:N374H	ENSP00000355013:N374H	N	+	1	0	CTR9	10741928	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.156000	0.94705	2.266000	0.75297	0.533000	0.62120	AAT		0.358	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386215.1	0	NM_014633		11:10785352
BEX2	84707	broad.mit.edu	37	X	102564742	102564742	+	Missense_Mutation	SNP	G	G	A	rs149711551	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chrX:102564742G>A	ENST00000372677.3	-	3	430	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	BEX2_ENST00000372674.1_Missense_Mutation_p.R55W|BEX2_ENST00000536889.1_Missense_Mutation_p.R87W	NM_032621.3	NP_116010.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	55					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|regulation of apoptotic process (GO:0042981)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|lung(1)|ovary(1)	3						ACGCGGAACCGCCTACGGTTT	0.478																																						ENST00000536889.1		NA																	0				endometrium(1)|lung(1)|ovary(1)	3						c.(259-261)Cgg>Tgg		brain expressed X-linked 2							133.0	119.0	124.0					X																	102564742		2203	4300	6503	SO:0001583	missense	84707				apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus		g.chrX:102564742G>A	BC015522	CCDS14505.1, CCDS55467.1	Xq22	2014-03-21			ENSG00000133134	ENSG00000133134			30933	protein-coding gene	gene with protein product		300691				16221301	Standard	NM_001168399		Approved	DJ79P11.1	uc004eka.3	Q9BXY8	OTTHUMG00000022095	ENST00000372677.3:c.163C>T	X.37:g.102564742G>A	ENSP00000361762:p.Arg55Trp	False	False		Somatic	0				BEX2_ENST00000372674.1_Missense_Mutation_p.R55W|BEX2_ENST00000372677.3_Missense_Mutation_p.R55W	p.R87W	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	WXS	Illumina HiSeq	Phase_I	Q9BXY8	BEX2_HUMAN			3	616	-			55					B2R574|D3DXA2|F5H7H5|Q5JVV9	Missense_Mutation	SNP	ENST00000372677.3	37	c.259C>T	CCDS14505.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672757	0.47781	.	.	ENSG00000133134	ENST00000372677;ENST00000536889;ENST00000372674;ENST00000449185	T;T;T;T	0.12361	2.69;2.69;2.69;2.69	4.01	-1.23	0.09465	.	0.689247	0.12748	N	0.442385	T	0.26810	0.0656	M	0.81497	2.545	0.09310	N	1	D;D	0.76494	0.999;0.999	P;D	0.63488	0.828;0.915	T	0.18713	-1.0328	10	0.87932	D	0	.	0.4238	0.00460	0.2149:0.1628:0.2858:0.3364	.	55;87	Q9BXY8;F5H7H5	BEX2_HUMAN;.	W	55;87;55;55	ENSP00000361762:R55W;ENSP00000442521:R87W;ENSP00000361759:R55W;ENSP00000394915:R55W	ENSP00000361759:R55W	R	-	1	2	BEX2	102451398	0.766000	0.28496	0.031000	0.17742	0.715000	0.41141	0.716000	0.25836	-0.425000	0.07371	0.600000	0.82982	CGG		0.478	BEX2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057702.1	0	NM_032621		X:102564742
INSL4	3641	broad.mit.edu	37	9	5233847	5233847	+	Silent	SNP	C	C	T	rs200209059		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr9:5233847C>T	ENST00000239316.4	+	2	495	c.390C>T	c.(388-390)gaC>gaT	p.D130D		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	130					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	insulin-like growth factor receptor binding (GO:0005159)|receptor binding (GO:0005102)			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		TAATTTGTGACGATGGAACTT	0.378																																						ENST00000239316.4		NA																	0				endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6						c.(388-390)gaC>gaT		insulin-like 4 (placenta)							75.0	70.0	72.0					9																	5233847		2203	4300	6503	SO:0001819	synonymous_variant	3641				cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding	g.chr9:5233847C>T		CCDS6459.1	9p24	2008-02-05			ENSG00000120211	ENSG00000120211			6087	protein-coding gene	gene with protein product		600910				8666396, 9730618	Standard	NM_002195		Approved	EPIL	uc003ziy.3	Q14641	OTTHUMG00000019494	ENST00000239316.4:c.390C>T	9.37:g.5233847C>T		False	False		Somatic	0					p.D130D	NM_002195.1	NP_002186.1	WXS	Illumina HiSeq	Phase_I	Q14641	INSL4_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)	2	495	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	130					A8K678|Q5W127	Silent	SNP	ENST00000239316.4	37	c.390C>T	CCDS6459.1																																																																																				0.378	INSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051616.2	0	NM_002195		9:5233847
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_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_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_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
ABCB5	340273	broad.mit.edu	37	7	20768012	20768012	+	Missense_Mutation	SNP	C	C	T	rs371459532		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr7:20768012C>T	ENST00000404938.2	+	23	3453	c.2801C>T	c.(2800-2802)gCg>gTg	p.A934V	ABCB5_ENST00000258738.6_Missense_Mutation_p.A489V	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	934	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.A489V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTTGCCTATGCGGCAGGGTTT	0.423																																						ENST00000404938.2		NA																	1	Substitution - Missense(1)	p.A489V(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(2800-2802)gCg>gTg		ATP-binding cassette, sub-family B (MDR/TAP), member 5		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	129.0	129.0	129.0		2801,1466	3.9	0.9	7		129	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ABCB5	NM_001163941.1,NM_178559.5	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	934/1258,489/813	20768012	1,13005	2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20768012C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.2801C>T	7.37:g.20768012C>T	ENSP00000384881:p.Ala934Val	False	False		Somatic	0				ABCB5_ENST00000258738.6_Missense_Mutation_p.A489V	p.A934V	NM_001163941.1	NP_001157413.1	WXS	Illumina HiSeq	Phase_I	Q2M3G0	ABCB5_HUMAN			23	3453	+			489					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.2801C>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306909	0.81247	0.0	1.16E-4	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.90133	-2.62;-2.62	3.91	3.91	0.45181	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.52532	D	0.000062	D	0.95689	0.8598	M	0.91300	3.195	0.51012	D	0.999903	D;D;D	0.89917	0.999;1.0;0.995	D;P;P	0.67103	0.949;0.904;0.899	D	0.96323	0.9238	10	0.87932	D	0	.	14.2264	0.65863	0.0:1.0:0.0:0.0	.	934;112;489	A7BKA4;A0ASV4;Q2M3G0	.;.;ABCB5_HUMAN	V	934;489	ENSP00000384881:A934V;ENSP00000258738:A489V	ENSP00000258738:A489V	A	+	2	0	ABCB5	20734537	1.000000	0.71417	0.943000	0.38184	0.979000	0.70002	5.943000	0.70211	2.472000	0.83506	0.655000	0.94253	GCG		0.423	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	0	NM_178559		7:20768012
TP53	7157	broad.mit.edu	37	17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr17:7577114C>A	ENST00000269305.4	-	8	1013	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000420246.2_Missense_Mutation_p.C275F|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGACAGGCACAAACACGCAC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		115	Substitution - Missense(92)|Whole gene deletion(8)|Deletion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	p.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)	lung(14)|large_intestine(13)|breast(13)|upper_aerodigestive_tract(12)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|ovary(7)|urinary_tract(6)|stomach(5)|oesophagus(5)|bone(5)|liver(5)|skin(3)|pancreas(2)|NS(2)|prostate(2)|biliary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM076568|CM951234	TP53	M		c.(823-825)tGt>tTt	Other conserved DNA damage response genes	tumor protein p53							71.0	61.0	64.0					17																	7577114		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577114C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.824G>T	17.37:g.7577114C>A	ENSP00000269305:p.Cys275Phe	True	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000269305.4_Missense_Mutation_p.C275F	p.C275F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	956	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	275		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.824G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536533	0.85812	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99874	-7.39;-7.39;-7.39;-7.39;-7.39;-7.39	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.92738	3.34	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.998	D;D;D;D	0.97110	0.993;1.0;0.993;0.993	D	0.96317	0.9233	10	0.87932	D	0	-17.2181	15.662	0.77193	0.0:1.0:0.0:0.0	.	275;275;275;275	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	F	275;275;275;275;275;264;143	ENSP00000352610:C275F;ENSP00000269305:C275F;ENSP00000398846:C275F;ENSP00000391127:C275F;ENSP00000391478:C275F;ENSP00000425104:C143F	ENSP00000269305:C275F	C	-	2	0	TP53	7517839	1.000000	0.71417	0.999000	0.59377	0.904000	0.53231	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	TGT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7577114
CKAP5	9793	broad.mit.edu	37	11	46782199	46782199	+	Missense_Mutation	SNP	G	G	A	rs540835227		TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr11:46782199G>A	ENST00000529230.1	-	33	4403	c.4357C>T	c.(4357-4359)Cgc>Tgc	p.R1453C	CKAP5_ENST00000312055.5_Missense_Mutation_p.R1453C|CKAP5_ENST00000354558.3_Missense_Mutation_p.R1453C|SNORD67_ENST00000390833.1_RNA|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1453C|SNORD67_ENST00000516618.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1453					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)		p.R1453C(1)		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						GGTCCCTTGCGTAACATGTTG	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		20329	0.001		0.0	False		,,,				2504	0.0				Ovarian(4;85 273 2202 4844 13323)	ENST00000529230.1		NA																	1	Substitution - Missense(1)	p.R1453C(1)	kidney(1)	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.(4357-4359)Cgc>Tgc		cytoskeleton associated protein 5							239.0	197.0	211.0					11																	46782199		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.chr11:46782199G>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.4357C>T	11.37:g.46782199G>A	ENSP00000432768:p.Arg1453Cys	False	False		Somatic	0				CKAP5_ENST00000354558.3_Missense_Mutation_p.R1453C|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1453C|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1453C	p.R1453C			WXS	Illumina HiSeq	Phase_I	Q14008	CKAP5_HUMAN			33	4403	-			1453					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.4357C>T	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.036557|4.036557	0.75617|0.75617	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876|ENST00000527333	T;T;T;T|.	0.51071|.	0.72;0.74;0.74;0.74|.	6.03|6.03	5.12|5.12	0.69794|0.69794	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56455|0.56455	0.1986|0.1986	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;B;B|.	0.89917|.	1.0;0.004;0.002|.	D;B;B|.	0.72625|.	0.978;0.001;0.0|.	T|T	0.52866|0.52866	-0.8518|-0.8518	10|5	0.59425|.	D|.	0.04|.	-10.0088|-10.0088	15.5956|15.5956	0.76578|0.76578	0.0658:0.0:0.9342:0.0|0.0658:0.0:0.9342:0.0	.|.	1453;1453;1453|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	C|M	1453;1453;1453;1453;176|1	ENSP00000432768:R1453C;ENSP00000395302:R1453C;ENSP00000310227:R1453C;ENSP00000346566:R1453C|.	ENSP00000310227:R1453C|.	R|T	-|-	1|2	0|0	CKAP5|CKAP5	46738775|46738775	1.000000|1.000000	0.71417|0.71417	0.939000|0.939000	0.37840|0.37840	0.997000|0.997000	0.91878|0.91878	5.506000|5.506000	0.66993|0.66993	1.556000|1.556000	0.49512|0.49512	0.655000|0.655000	0.94253|0.94253	CGC|ACG		0.483	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	0	NM_014756		11:46782199
ZC2HC1A	51101	broad.mit.edu	37	8	79627515	79627515	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr8:79627515G>A	ENST00000263849.4	+	8	866	c.764G>A	c.(763-765)gGt>gAt	p.G255D	IL7_ENST00000519833.1_5'Flank	NM_016010.2	NP_057094.2	Q96GY0	ZC21A_HUMAN	zinc finger, C2HC-type containing 1A	255							metal ion binding (GO:0046872)										CCTGCCCCAGGTGTGCTTACA	0.358																																						ENST00000263849.4		NA																	0					NA						c.(763-765)gGt>gAt		zinc finger, C2HC-type containing 1A							80.0	85.0	84.0					8																	79627515		2203	4300	6503	SO:0001583	missense	51101							g.chr8:79627515G>A		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.764G>A	8.37:g.79627515G>A	ENSP00000263849:p.Gly255Asp	False	False		Somatic	0					p.G255D	NM_016010.2	NP_057094.2	WXS	Illumina HiSeq	Phase_I	Q96GY0	F164A_HUMAN			8	866	+			255					Q9Y372	Missense_Mutation	SNP	ENST00000263849.4	37	c.764G>A	CCDS6223.1	.	.	.	.	.	.	.	.	.	.	G	11.76	1.735741	0.30774	.	.	ENSG00000104427	ENST00000263849	T	0.50001	0.76	4.93	2.1	0.27182	.	0.354675	0.30901	N	0.008656	T	0.37945	0.1022	L	0.48642	1.525	0.09310	N	0.999996	B	0.31837	0.342	B	0.36289	0.221	T	0.20075	-1.0286	9	.	.	.	-0.8394	6.5107	0.22220	0.0716:0.131:0.6614:0.136	.	255	Q96GY0	F164A_HUMAN	D	255	ENSP00000263849:G255D	.	G	+	2	0	FAM164A	79790070	0.998000	0.40836	0.130000	0.21974	0.942000	0.58702	1.787000	0.38704	0.252000	0.21531	0.650000	0.86243	GGT		0.358	ZC2HC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379423.2	0	NM_016010		8:79627515
LRRK2	120892	broad.mit.edu	37	12	40677757	40677757	+	Silent	SNP	G	G	A	rs146103273	byFrequency	TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr12:40677757G>A	ENST00000298910.7	+	19	2380	c.2322G>A	c.(2320-2322)gcG>gcA	p.A774A	LRRK2_ENST00000343742.2_Silent_p.A774A	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	774					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TACGAAAAGCGTTGACGATAA	0.433													G|||	4	0.000798722	0.0	0.0029	5008	,	,		15244	0.0		0.001	False		,,,				2504	0.001					ENST00000298910.7		NA																	0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(2320-2322)gcG>gcA		leucine-rich repeat kinase 2		G		3,4403	6.2+/-15.9	0,3,2200	154.0	145.0	148.0		2322	-10.3	0.0	12	dbSNP_134	148	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	LRRK2	NM_198578.3		0,9,6494	AA,AG,GG		0.0698,0.0681,0.0692		774/2528	40677757	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40677757G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.2322G>A	12.37:g.40677757G>A		False	False		Somatic	0				LRRK2_ENST00000343742.2_Silent_p.A774A	p.A774A	NM_198578.3	NP_940980	WXS	Illumina HiSeq	Phase_I	Q5S007	LRRK2_HUMAN			19	2380	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	774					A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.2322G>A	CCDS31774.1																																																																																				0.433	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	0	XM_058513		12:40677757
TPP2	7174	broad.mit.edu	37	13	103299607	103299607	+	Silent	SNP	A	A	G			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr13:103299607A>G	ENST00000376065.4	+	21	2577	c.2541A>G	c.(2539-2541)ttA>ttG	p.L847L	TPP2_ENST00000376052.3_Silent_p.L847L	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	847					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGAACTATTATATGAATCTG	0.368																																						ENST00000376052.3		NA																	0				breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52						c.(2539-2541)ttA>ttG		tripeptidyl peptidase II							70.0	71.0	70.0					13																	103299607		2203	4300	6503	SO:0001819	synonymous_variant	7174				proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr13:103299607A>G	M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.2541A>G	13.37:g.103299607A>G		False	False		Somatic	0				TPP2_ENST00000376065.4_Silent_p.L847L	p.L847L			WXS	Illumina HiSeq	Phase_I	P29144	TPP2_HUMAN			21	2557	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		847					Q5VZU8	Silent	SNP	ENST00000376065.4	37	c.2541A>G	CCDS9502.1																																																																																				0.368	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045683.2	0			13:103299607
CROCCP2	84809	broad.mit.edu	37	1	16958769	16958769	+	lincRNA	SNP	C	C	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr1:16958769C>T	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTGAAGCTCACCAGGGCCTCA	0.622																																						ENST00000412962.1		NA																	0					NA																																														0							g.chr1:16958769C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16958769C>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	74	-			NA					Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.622	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	0	NR_026752.1		1:16958769
COL9A1	1297	broad.mit.edu	37	6	70935662	70935662	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr6:70935662C>T	ENST00000357250.6	-	37	2712	c.2554G>A	c.(2554-2556)Ggt>Agt	p.G852S	COL9A1_ENST00000370499.4_Missense_Mutation_p.G609S|COL9A1_ENST00000489611.1_5'UTR|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000320755.7_Missense_Mutation_p.G609S	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	852	Collagen-like 10.|Triple-helical region (COL1).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGGCAAACCGTTGGGACCT	0.428																																						ENST00000357250.6		NA																	0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						c.(2554-2556)Ggt>Agt		collagen, type IX, alpha 1							79.0	74.0	76.0					6																	70935662		2203	4300	6503	SO:0001583	missense	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70935662C>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.2554G>A	6.37:g.70935662C>T	ENSP00000349790:p.Gly852Ser	False	False		Somatic	0				COL9A1_ENST00000320755.7_Missense_Mutation_p.G609S|COL9A1_ENST00000370499.4_Missense_Mutation_p.G609S|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_5'UTR	p.G852S	NM_001851.4	NP_001842.3	WXS	Illumina HiSeq	Phase_I	P20849	CO9A1_HUMAN			37	2712	-			852			Triple-helical region (COL1).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	c.2554G>A	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304275	0.81136	.	.	ENSG00000112280	ENST00000357250;ENST00000320755;ENST00000370499	D;D;D	0.99329	-5.75;-5.75;-5.75	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.99704	0.9887	H	0.96777	3.88	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97485	1.0050	10	0.87932	D	0	.	19.2294	0.93831	0.0:1.0:0.0:0.0	.	852;609;401	P20849;P20849-2;B3KWS8	CO9A1_HUMAN;.;.	S	852;609;609	ENSP00000349790:G852S;ENSP00000315252:G609S;ENSP00000359530:G609S	ENSP00000315252:G609S	G	-	1	0	COL9A1	70992383	1.000000	0.71417	0.999000	0.59377	0.950000	0.60333	7.313000	0.78978	2.557000	0.86248	0.591000	0.81541	GGT		0.428	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2	0			6:70935662
ARX	170302	broad.mit.edu	37	X	25033684	25033684	+	Silent	SNP	G	G	A			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chrX:25033684G>A	ENST00000379044.4	-	1	381	c.171C>T	c.(169-171)cgC>cgT	p.R57R		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	57					axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			kidney(1)|large_intestine(2)|lung(1)	4						CCGGGTCGGCGCGGCTGGTCA	0.627																																						ENST00000379044.4		NA																	0				kidney(1)|large_intestine(2)|lung(1)	4						c.(169-171)cgC>cgT		aristaless related homeobox							25.0	23.0	24.0					X																	25033684		2202	4300	6502	SO:0001819	synonymous_variant	170302					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:25033684G>A	AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"""Homeoboxes / PRD class"""	18060	protein-coding gene	gene with protein product	"""cancer/testis antigen 121"""	300382	"""mental retardation, X-linked 54"", ""mental retardation, X-linked 43"", ""mental retardation, X-linked 36"", ""mental retardation, X-linked 29"", ""mental retardation, X-linked 32"", ""mental retardation, X-linked 33"", ""mental retardation, X-linked 38"", ""mental retardation, X-linked 87"", ""mental retardation, X-linked 76"""	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.171C>T	X.37:g.25033684G>A		False	False		Somatic	0					p.R57R	NM_139058.2	NP_620689.1	WXS	Illumina HiSeq	Phase_I	Q96QS3	ARX_HUMAN			1	381	-			57						Silent	SNP	ENST00000379044.4	37	c.171C>T	CCDS14215.1																																																																																				0.627	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056109.1	0			X:25033684
CDKN2A	1029	broad.mit.edu	37	9	21971003	21971003	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A49G-01A-11D-A26I-08	TCGA-HZ-A49G-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	b69d58f0-e51c-470b-bcb3-743fb4cede11	6b9bda12-72ab-4d91-a3e5-df702e7cf48e	g.chr9:21971003C>T	ENST00000304494.5	-	2	625	c.355G>A	c.(355-357)Gag>Aag	p.E119K	CDKN2A_ENST00000530628.2_Silent_p.*133*|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E68K|CDKN2A_ENST00000494262.1_Missense_Mutation_p.E68K|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000479692.2_Missense_Mutation_p.E68K|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000361570.3_Silent_p.*174*|CDKN2A_ENST00000497750.1_Missense_Mutation_p.E68K|CDKN2A_ENST00000579755.1_Silent_p.*133*|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E68K	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	119			E -> Q (in a biliary tract tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.E119*(4)|p.E119Q(2)|p.0(1)|p.A118fs*10(1)|p.A118fs*27(1)|p.*174L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCAGCTCCTCAGCCAGGTCC	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1369	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(4)|Substitution - Missense(2)|Deletion - Frameshift(1)|Complex - frameshift(1)|Nonstop extension(1)	p.0?(1315)|p.?(44)|p.E119*(4)|p.E119Q(2)|p.0(1)|p.A118fs*10(1)|p.A118fs*27(1)|p.*174L(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|biliary_tract(14)|thyroid(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(355-357)Gag>Aag		cyclin-dependent kinase inhibitor 2A							24.0	26.0	25.0					9																	21971003		2202	4298	6500	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971003C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.355G>A	9.37:g.21971003C>T	ENSP00000307101:p.Glu119Lys	False	False	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	Somatic	0				CDKN2A_ENST00000497750.1_Missense_Mutation_p.E68K|CDKN2A_ENST00000479692.2_Missense_Mutation_p.E68K|CDKN2A_ENST00000361570.3_Silent_p.*174*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E68K|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E68K|CDKN2A_ENST00000579755.1_Silent_p.*133*|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000579122.1_Missense_Mutation_p.E119K|CDKN2A_ENST00000494262.1_Missense_Mutation_p.E68K|CDKN2A_ENST00000530628.2_Silent_p.*133*|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E119K	p.E119K	NM_000077.4	NP_000068.1	WXS	Illumina HiSeq	Phase_I	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	625	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	119		E -> Q (in a biliary tract tumor).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.355G>A	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	9.497	1.102324	0.20632	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.64085	-0.08;-0.08	5.93	2.91	0.33838	Ankyrin repeat-containing domain (4);	.	.	.	.	T	0.69504	0.3118	.	.	.	0.21220	N	0.999751	D	0.71674	0.998	D	0.74023	0.982	T	0.56498	-0.7969	8	0.20519	T	0.43	-4.2732	8.4897	0.33093	0.0:0.4925:0.4233:0.0842	.	119	P42771	CD2A1_HUMAN	K	119	ENSP00000307101:E119K;ENSP00000394932:E119K	ENSP00000307101:E119K	E	-	1	0	CDKN2A	21961003	0.002000	0.14202	0.998000	0.56505	0.865000	0.49528	0.628000	0.24522	0.816000	0.34421	0.655000	0.94253	GAG		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	0	NM_000077		9:21971003
