#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
IL2RB	3560	broad.mit.edu	37	22	37524469	37524470	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AG-A032-01	TCGA-AG-A032-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr22:37524469_37524470insG	ENST00000216223.5	-	10	1520_1521	c.1322_1323insC	c.(1321-1323)ccafs	p.P441fs		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	441					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)	p.S442fs*11(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGGCAGTGCTTGGGGGGCTGGG	0.673																																					p.P441fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.1323_1324insC	22						.																																			35854416	SO:0001589	frameshift_variant	3560	exon10			M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1323dupC	22.37:g.37524475_37524475dupG	ENSP00000216223:p.Pro441fs		35854415	NM_000878	B2R765	Frame_Shift_Ins	INS	ENST00000216223.5	37	CCDS13942.1																																																																																				0.673	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318792.1		
PARP14	54625	broad.mit.edu	37	3	122399783	122399784	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AG-A032-01	TCGA-AG-A032-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr3:122399783_122399784insC	ENST00000474629.2	+	1	319_320	c.53_54insC	c.(52-57)gaccccfs	p.DP18fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	18					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGGGGCCCCGACCCCCCGAAGA	0.683																																					p.D18fs												.	.	0			c.53_54insC	3						.																																			123882474	SO:0001589	frameshift_variant	54625	exon1			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.59dupC	3.37:g.122399789_122399789dupC	ENSP00000418194:p.Asp18fs		123882473	NM_017554	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Frame_Shift_Ins	INS	ENST00000474629.2	37	CCDS46894.1																																																																																				0.683	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554	
CCDC136	64753	broad.mit.edu	37	7	128457890	128457890	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A032-01	TCGA-AG-A032-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr7:128457890T>C	ENST00000297788.4	+	17	3809	c.3442T>C	c.(3442-3444)Tgg>Cgg	p.W1148R	CCDC136_ENST00000487361.1_Missense_Mutation_p.W509R|CCDC136_ENST00000378685.4_Missense_Mutation_p.W428R|CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Missense_Mutation_p.W440R	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1148						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.W1148R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GCTCTGGTGCTGGTGGGCTGA	0.562																																					p.W1148R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3442C	7						.						255.0	255.0	255.0					7																	128457890		2128	4235	6363	128245126	SO:0001583	missense	64753	exon17				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.3442T>C	7.37:g.128457890T>C	ENSP00000297788:p.Trp1148Arg		128245126	NM_022742	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	T	18.77	3.694945	0.68386	.	.	ENSG00000128596	ENST00000378685;ENST00000464832;ENST00000487361;ENST00000297788	T;T;T;T	0.53857	0.71;0.67;0.6;0.71	4.9	4.9	0.64082	.	0.252110	0.36374	N	0.002627	T	0.67702	0.2921	M	0.64997	1.995	0.33031	D	0.530123	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.997	T	0.77335	-0.2626	10	0.87932	D	0	.	11.201	0.48741	0.0:0.0:0.0:1.0	.	509;1148;428	C9JE17;Q96JN2;Q96JN2-3	.;CC136_HUMAN;.	R	428;440;509;1148	ENSP00000367956:W428R;ENSP00000419515:W440R;ENSP00000420509:W509R;ENSP00000297788:W1148R	ENSP00000297788:W1148R	W	+	1	0	CCDC136	128245126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.141000	0.64814	1.958000	0.56883	0.459000	0.35465	TGG		0.562	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742	
WEE2	494551	broad.mit.edu	37	7	141408825	141408825	+	Silent	SNP	C	C	T			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr7:141408825C>T	ENST00000397541.2	+	1	673	c.267C>T	c.(265-267)ctC>ctT	p.L89L	WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000459753.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	89					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.L89L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CACACCCTCTCAAATGTCCTG	0.522																																					p.L89L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C267T	7						.						127.0	124.0	125.0					7																	141408825		1954	4169	6123	141055294	SO:0001819	synonymous_variant	494551	exon1			AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.267C>T	7.37:g.141408825C>T			141055294	NM_001105558		Silent	SNP	ENST00000397541.2	37	CCDS43660.1																																																																																				0.522	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	NM_001105558	
GPR141	353345	broad.mit.edu	37	7	37780301	37780301	+	Silent	SNP	G	G	A			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr7:37780301G>A	ENST00000447769.1	+	4	595	c.306G>A	c.(304-306)acG>acA	p.T102T	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Silent_p.T102T			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T102T(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGTACCTCACGTTCCTATTCT	0.468																																					p.T102T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G306A	7						.						118.0	102.0	108.0					7																	37780301		2203	4300	6503	37746826	SO:0001819	synonymous_variant	353345	exon1			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.306G>A	7.37:g.37780301G>A			37746826	NM_181791	A4D1X7|Q0VAR5|Q86SP3	Silent	SNP	ENST00000447769.1	37	CCDS5451.1																																																																																				0.468	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791	
PON1	5444	broad.mit.edu	37	7	94937330	94937330	+	Missense_Mutation	SNP	C	C	T	rs564064745		TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr7:94937330C>T	ENST00000222381.3	-	6	922	c.691G>A	c.(691-693)Gat>Aat	p.D231N	PON1_ENST00000542556.1_Missense_Mutation_p.D231N	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	231					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)	p.D231N(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	TACTTGCCATCGGGTGAAATG	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		17334	0.001		0.0	False		,,,				2504	0.0				p.D231N	GBM(119;715 1622 17358 22490 33240)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G691A	7						.						102.0	88.0	93.0					7																	94937330		2203	4300	6503	94775266	SO:0001583	missense	5444	exon6			AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.691G>A	7.37:g.94937330C>T	ENSP00000222381:p.Asp231Asn		94775266	NM_000446	B2RA40|Q16052|Q6B0J6|Q9UCB1	Missense_Mutation	SNP	ENST00000222381.3	37	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634421	0.47049	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	T;T	0.57907	0.37;0.37	4.95	4.95	0.65309	Six-bladed beta-propeller, TolB-like (1);	0.045394	0.85682	D	0.000000	T	0.61160	0.2325	M	0.79011	2.435	0.54753	D	0.999989	P;P	0.49447	0.907;0.924	B;P	0.45276	0.343;0.475	T	0.66468	-0.5916	10	0.46703	T	0.11	-28.2714	18.7584	0.91840	0.0:1.0:0.0:0.0	.	231;231	F5H4W9;P27169	.;PON1_HUMAN	N	231	ENSP00000222381:D231N;ENSP00000444854:D231N	ENSP00000222381:D231N	D	-	1	0	PON1	94775266	0.999000	0.42202	1.000000	0.80357	0.801000	0.45260	4.313000	0.59160	2.739000	0.93911	0.491000	0.48974	GAT		0.358	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446	
AZGP1	563	broad.mit.edu	37	7	99569542	99569542	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A032-01	TCGA-AG-A032-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr7:99569542T>C	ENST00000292401.4	-	2	300	c.164A>G	c.(163-165)gAc>gGc	p.D55G	AZGP1_ENST00000411734.1_Missense_Mutation_p.D52G	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	55					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)	p.D55G(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GAACTGGAGGTCATTGAGTGA	0.498																																					p.D55G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A164G	7						.						110.0	105.0	107.0					7																	99569542		2203	4300	6503	99407478	SO:0001583	missense	563	exon2			BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.164A>G	7.37:g.99569542T>C	ENSP00000292401:p.Asp55Gly		99407478	NM_001185	D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	CCDS5680.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.838|6.838	0.523854|0.523854	0.13066|0.13066	.|.	.|.	ENSG00000160862|ENSG00000160862	ENST00000292401;ENST00000411734|ENST00000419575	D;D|.	0.90504|.	-2.68;-2.68|.	1.51|1.51	0.291|0.291	0.15732|0.15732	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	0.244102|.	0.20964|.	U|.	0.082518|.	T|T	0.34193|0.34193	0.0889|0.0889	L|L	0.48174|0.48174	1.505|1.505	0.24090|0.24090	N|N	0.995914|0.995914	P|.	0.35411|.	0.5|.	B|.	0.35655|.	0.207|.	T|T	0.28106|0.28106	-1.0054|-1.0054	10|5	0.72032|.	D|.	0.01|.	.|.	3.4563|3.4563	0.07516|0.07516	0.0:0.2299:0.0:0.7701|0.0:0.2299:0.0:0.7701	.|.	55|.	P25311|.	ZA2G_HUMAN|.	G|A	55;52|26	ENSP00000292401:D55G;ENSP00000396093:D52G|.	ENSP00000292401:D55G|.	D|T	-|-	2|1	0|0	AZGP1|AZGP1	99407478|99407478	1.000000|1.000000	0.71417|0.71417	0.228000|0.228000	0.23943|0.23943	0.004000|0.004000	0.04260|0.04260	1.319000|1.319000	0.33655|0.33655	0.065000|0.065000	0.16485|0.16485	-0.818000|-0.818000	0.03119|0.03119	GAC|ACC		0.498	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185	
ESYT2	57488	broad.mit.edu	37	7	158534259	158534259	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr7:158534259G>A	ENST00000251527.5	-	17	2269	c.2204C>T	c.(2203-2205)cCc>cTc	p.P735L	ESYT2_ENST00000435514.2_Missense_Mutation_p.P170L	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	763					endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)	p.P735L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GGTGGCGATGGGCAGCGAGAT	0.637																																					p.P735L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2204T	7						.						54.0	51.0	52.0					7																	158534259		2203	4300	6503	158227020	SO:0001583	missense	57488	exon17			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2204C>T	7.37:g.158534259G>A	ENSP00000251527:p.Pro735Leu		158227020	NM_020728	A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	ENST00000251527.5	37	CCDS34791.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.22|18.22	3.576772|3.576772	0.65878|0.65878	.|.	.|.	ENSG00000117868|ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514;ENST00000377650|ENST00000429474	T;T;T|.	0.22945|.	1.93;1.93;2.36|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.70640|0.70640	0.3247|0.3247	L|L	0.54323|0.54323	1.7|1.7	0.80722|0.80722	D|D	1|1	P;B|.	0.37233|.	0.588;0.368|.	B;B|.	0.43274|.	0.224;0.414|.	T|T	0.68458|0.68458	-0.5403|-0.5403	10|7	0.17369|0.37606	T|T	0.5|0.19	-18.3444|-18.3444	17.885|17.885	0.88851|0.88851	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	735;763|.	A0FGR8-2;A0FGR8|.	.;ESYT2_HUMAN|.	L|S	735;784;726;170;170|518	ENSP00000251527:P735L;ENSP00000275418:P726L;ENSP00000411488:P170L|.	ENSP00000251527:P735L|ENSP00000395865:P518S	P|P	-|-	2|1	0|0	ESYT2|ESYT2	158227020|158227020	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.684000|0.684000	0.39900|0.39900	9.357000|9.357000	0.97099|0.97099	2.541000|2.541000	0.85698|0.85698	0.655000|0.655000	0.94253|0.94253	CCC|CCA		0.637	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322647.1	NM_020728	
MACROD2	140733	broad.mit.edu	37	20	15866456	15866456	+	Splice_Site	SNP	G	G	T			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr20:15866456G>T	ENST00000310348.4	+	10	775	c.775G>T	c.(775-777)Gat>Tat	p.D259Y	MACROD2_ENST00000378058.3_Splice_Site_p.D24Y|MACROD2_ENST00000402914.1_Splice_Site_p.D24Y|MACROD2_ENST00000217246.4_Splice_Site_p.D259Y			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	259	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.D24Y(1)|p.D259Y(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGAAGATTCAGGTATTAAATT	0.279																																					p.D24Y												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G70T	20						.						78.0	93.0	88.0					20																	15866456		2198	4292	6490	15814456	SO:0001630	splice_region_variant	140733	exon6			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.775+1G>T	20.37:g.15866456G>T			15814456	NM_001033087	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560876	0.65538	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058	T;T;T;T	0.56776	2.27;2.26;0.44;0.44	5.35	5.35	0.76521	.	0.000000	0.52532	D	0.000070	T	0.68879	0.3049	L	0.56769	1.78	0.39076	D	0.960801	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.71324	-0.4627	10	0.66056	D	0.02	-26.8684	15.2906	0.73862	0.0:0.0:1.0:0.0	.	259;259	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	Y	259;259;24;24	ENSP00000217246:D259Y;ENSP00000309809:D259Y;ENSP00000385290:D24Y;ENSP00000367297:D24Y	ENSP00000217246:D259Y	D	+	1	0	MACROD2	15814456	1.000000	0.71417	1.000000	0.80357	0.815000	0.46073	4.450000	0.60041	2.885000	0.99019	0.655000	0.94253	GAT		0.279	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676	Missense_Mutation
MYLK2	85366	broad.mit.edu	37	20	30411368	30411369	+	Nonsense_Mutation	DNP	CA	CA	TT			TCGA-AG-A032-01	TCGA-AG-A032-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr20:30411368_30411369CA>TT	ENST00000375994.2	+	4	1134_1135	c.861_862CA>TT	c.(859-864)tcCAag>tcTTag	p.K288*	MYLK2_ENST00000375985.4_Nonsense_Mutation_p.K288*			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	288	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|neuromuscular synaptic transmission (GO:0007274)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of gene expression (GO:0010628)|protein autophosphorylation (GO:0046777)|regulation of muscle filament sliding (GO:0032971)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle satellite cell differentiation (GO:0014816)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.S287>?(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTATGAACTCCAAGGAGGCGCT	0.614											OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.												.	.	1	Complex(1)	large_intestine(1)	c.861_862TT	20						.																																			29875030	SO:0001587	stop_gained	85366	exon5			AF325549	CCDS13191.1	20q13.31	2014-09-17	2008-01-23		ENSG00000101306	ENSG00000101306	2.7.11.18		16243	protein-coding gene	gene with protein product	"""skeletal muscle myosin light chain kinase"""	606566	"""myosin light chain kinase 2, skeletal muscle"""				Standard	NM_033118		Approved	skMLCK, KMLC, MLCK2	uc002wwq.2	Q9H1R3	OTTHUMG00000032194	Exception_encountered	20.37:g.30411368_30411369delinsTT	ENSP00000365162:p.Lys288*	817	29875029	NM_033118	Q569L1|Q96I84	Nonsense_Mutation	DNP	ENST00000375994.2	37	CCDS13191.1																																																																																				0.614	MYLK2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078583.2	NM_033118	
L3MBTL1	26013	broad.mit.edu	37	20	42169426	42169426	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr20:42169426G>C	ENST00000427442.2	+	21	2458	c.2299G>C	c.(2299-2301)Gag>Cag	p.E767Q	L3MBTL1_ENST00000373135.3_Missense_Mutation_p.E699Q|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.E704Q|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.E767Q|L3MBTL1_ENST00000444063.1_Missense_Mutation_p.E699Q			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	699					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GACAGGTTGTGAGGACCAAGC	0.562																																					p.E767Q												.	.	0			c.G2299C	20						.						116.0	83.0	94.0					20																	42169426		2203	4300	6503	41602840	SO:0001583	missense	26013	exon21			U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.2299G>C	20.37:g.42169426G>C	ENSP00000402107:p.Glu767Gln		41602840	NM_032107	B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Missense_Mutation	SNP	ENST00000427442.2	37	CCDS46602.2	.	.	.	.	.	.	.	.	.	.	G	25.7	4.660662	0.88154	.	.	ENSG00000185513	ENST00000427442;ENST00000418998;ENST00000373135;ENST00000444063;ENST00000373134;ENST00000422861;ENST00000373133	T;T;T;T;T;T	0.46819	1.98;1.98;1.93;1.91;1.86;0.86	4.79	4.79	0.61399	.	0.203652	0.40302	N	0.001128	T	0.58949	0.2158	L	0.41632	1.29	0.50039	D	0.999841	P;D;D;D;P	0.76494	0.819;0.997;0.999;0.997;0.866	P;D;D;D;P	0.66602	0.508;0.945;0.929;0.92;0.591	T	0.60388	-0.7273	10	0.49607	T	0.09	.	16.5934	0.84781	0.0:0.0:1.0:0.0	.	767;351;87;699;699	Q9Y468-5;Q9Y468-3;Q6ZWF5;Q9Y468-2;Q9Y468-1	.;.;.;.;.	Q	767;767;699;699;704;485;351	ENSP00000402107:E767Q;ENSP00000398516:E767Q;ENSP00000362227:E699Q;ENSP00000403316:E699Q;ENSP00000362226:E704Q;ENSP00000410139:E485Q	ENSP00000362225:E351Q	E	+	1	0	L3MBTL1	41602840	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.269000	0.72558	2.185000	0.69588	0.557000	0.71058	GAG		0.562	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107	
NDRG2	57447	broad.mit.edu	37	14	21489993	21489993	+	Silent	SNP	G	G	A	rs370648416		TCGA-AG-A032-01	TCGA-AG-A032-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr14:21489993G>A	ENST00000556147.1	-	6	1330	c.390C>T	c.(388-390)tgC>tgT	p.C130C	NDRG2_ENST00000397856.3_Silent_p.C116C|NDRG2_ENST00000554143.1_Silent_p.C116C|NDRG2_ENST00000554104.1_Silent_p.C43C|NDRG2_ENST00000555158.1_Silent_p.C116C|NDRG2_ENST00000298684.5_Silent_p.C116C|NDRG2_ENST00000397853.3_Silent_p.C130C|AL161668.5_ENST00000533984.1_lincRNA|NDRG2_ENST00000397855.3_Silent_p.C116C|NDRG2_ENST00000553503.1_Silent_p.C116C|NDRG2_ENST00000397844.2_Silent_p.C116C|NDRG2_ENST00000403829.3_Silent_p.C126C|NDRG2_ENST00000397847.2_Silent_p.C130C|NDRG2_ENST00000397851.2_Silent_p.C130C|NDRG2_ENST00000360463.3_Silent_p.C116C|NDRG2_ENST00000350792.3_Silent_p.C116C|NDRG2_ENST00000397858.1_Silent_p.C130C|NDRG2_ENST00000298687.5_Silent_p.C130C|NDRG2_ENST00000554277.1_5'Flank			Q9UN36	NDRG2_HUMAN	NDRG family member 2	130					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)		p.C130C(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		ACTGCAGGACGCAAGGGATCA	0.527																																					p.C116C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C348T	14						.	G	,,,,,,,	0,4406		0,0,2203	102.0	94.0	96.0		348,390,348,390,348,390,390,348	2.7	1.0	14		96	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NDRG2	NM_016250.2,NM_201535.1,NM_201536.1,NM_201537.1,NM_201538.1,NM_201539.1,NM_201540.1,NM_201541.1	,,,,,,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,,,,,	116/358,130/372,116/358,130/372,116/358,130/372,130/372,116/358	21489993	2,13004	2203	4300	6503	20559833	SO:0001819	synonymous_variant	57447	exon6			AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.390C>T	14.37:g.21489993G>A			20559833	NM_016250	B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Silent	SNP	ENST00000556147.1	37	CCDS9565.1																																																																																				0.527	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411717.1		
UPB1	51733	broad.mit.edu	37	22	24896172	24896172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr22:24896172C>T	ENST00000326010.5	+	2	546	c.202C>T	c.(202-204)Cga>Tga	p.R68*	UPB1_ENST00000413389.2_Intron|UPB1_ENST00000382760.2_Nonsense_Mutation_p.R68*	NM_016327.2	NP_057411.1	Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	68					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	beta-ureidopropionase activity (GO:0003837)|metal ion binding (GO:0046872)	p.R68*(1)		endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GCAGCTGAGACGACCCCGCAT	0.542																																					p.R68X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C202T	22						.						82.0	85.0	84.0					22																	24896172		2203	4300	6503	23226172	SO:0001587	stop_gained	51733	exon2			AB013885	CCDS13827.1	22q11.2	2008-04-11			ENSG00000100024	ENSG00000100024			16297	protein-coding gene	gene with protein product		606673				10542323	Standard	XR_244378		Approved	BUP1	uc003aaf.3	Q9UBR1	OTTHUMG00000150749	ENST00000326010.5:c.202C>T	22.37:g.24896172C>T	ENSP00000324343:p.Arg68*		23226172	NM_016327	A3KMF8|Q9UIR3	Nonsense_Mutation	SNP	ENST00000326010.5	37	CCDS13827.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531090	0.85706	.	.	ENSG00000100024	ENST00000326010;ENST00000382760;ENST00000426507	.	.	.	4.73	-1.97	0.07503	.	1.084730	0.06991	N	0.821697	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-4.6678	3.3069	0.07003	0.2849:0.3735:0.2589:0.0827	.	.	.	.	X	68	.	ENSP00000324343:R68X	R	+	1	2	UPB1	23226172	0.001000	0.12720	0.009000	0.14445	0.814000	0.46013	0.112000	0.15479	-0.466000	0.06943	0.561000	0.74099	CGA		0.542	UPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319869.1		
ZNF439	90594	broad.mit.edu	37	19	11977371	11977371	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr19:11977371G>T	ENST00000304030.2	+	2	395	c.195G>T	c.(193-195)caG>caT	p.Q65H	ZNF439_ENST00000455282.1_5'UTR|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	65	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GGAAAGACCAGAACATTGAAT	0.338																																					p.Q65H												.	.	0			c.G195T	19						.						95.0	95.0	95.0					19																	11977371		2202	4299	6501	11838371	SO:0001583	missense	90594	exon2			AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.195G>T	19.37:g.11977371G>T	ENSP00000305077:p.Gln65His		11838371	NM_152262	Q8IYZ7|Q96SU1	Missense_Mutation	SNP	ENST00000304030.2	37	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	g	0.155	-1.087133	0.01873	.	.	ENSG00000171291	ENST00000442091;ENST00000304030	T;T	0.00816	5.66;5.66	1.31	-2.61	0.06171	Krueppel-associated box (3);	.	.	.	.	T	0.00666	0.0022	L	0.27975	0.815	0.09310	N	1	B	0.10296	0.003	B	0.17979	0.02	T	0.46541	-0.9184	9	0.14656	T	0.56	.	3.0352	0.06119	0.2275:0.0:0.4757:0.2969	.	65	Q8NDP4	ZN439_HUMAN	H	52;65	ENSP00000388234:Q52H;ENSP00000305077:Q65H	ENSP00000305077:Q65H	Q	+	3	2	ZNF439	11838371	0.010000	0.17322	0.005000	0.12908	0.318000	0.28184	0.263000	0.18478	-0.253000	0.09514	0.194000	0.17425	CAG		0.338	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1		
ZNF101	94039	broad.mit.edu	37	19	19790412	19790412	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr19:19790412C>A	ENST00000592502.1	+	4	724	c.614C>A	c.(613-615)gCc>gAc	p.A205D	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.A85D			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						ATAGTGAGAGCCTTCACAGTT	0.378																																					p.A205D												.	.	0			c.C614A	19						.						65.0	71.0	69.0					19																	19790412		2201	4300	6501	19651412	SO:0001583	missense	94039	exon4			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.614C>A	19.37:g.19790412C>A	ENSP00000468049:p.Ala205Asp		19651412	NM_033204	C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	C	11.82	1.752815	0.31046	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.14266	2.52;2.52	0.235	0.235	0.15431	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23649	0.0572	M	0.73372	2.23	0.09310	N	1	D	0.69078	0.997	P	0.58013	0.831	T	0.11470	-1.0586	8	.	.	.	.	2.6964	0.05136	0.0:0.5614:0.0:0.4386	.	205	Q8IZC7	ZN101_HUMAN	D	205;205;85	ENSP00000319716:A205D;ENSP00000400952:A85D	.	A	+	2	0	ZNF101	19651412	0.000000	0.05858	0.216000	0.23742	0.217000	0.24651	-0.370000	0.07523	0.308000	0.22923	0.313000	0.20887	GCC		0.378	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1	NM_033204	
TSHZ3	57616	broad.mit.edu	37	19	31770274	31770274	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr19:31770274G>A	ENST00000240587.4	-	2	752	c.425C>T	c.(424-426)tCc>tTc	p.S142F		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	142	Ser-rich.				in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S142F(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CTTCTCCGAGGAGGGCTGGTG	0.592																																					p.S142F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C425T	19						.						88.0	92.0	90.0					19																	31770274		2199	4289	6488	36462114	SO:0001583	missense	57616	exon2			AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.425C>T	19.37:g.31770274G>A	ENSP00000240587:p.Ser142Phe		36462114	NM_020856	Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	G	9.000	0.979906	0.18812	.	.	ENSG00000121297	ENST00000240587	T	0.12672	2.66	5.77	5.77	0.91146	.	0.203527	0.31673	U	0.007251	T	0.10766	0.0263	L	0.27053	0.805	0.37297	D	0.908547	B	0.19445	0.036	B	0.18871	0.023	T	0.21415	-1.0246	10	0.23302	T	0.38	-22.5611	13.6465	0.62286	0.0796:0.0:0.9204:0.0	.	142	Q63HK5	TSH3_HUMAN	F	142	ENSP00000240587:S142F	ENSP00000240587:S142F	S	-	2	0	TSHZ3	36462114	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.546000	0.82137	2.701000	0.92244	0.650000	0.86243	TCC		0.592	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856	
SIPA1L3	23094	broad.mit.edu	37	19	38610443	38610443	+	Missense_Mutation	SNP	A	A	G	rs150292475		TCGA-AG-A032-01	TCGA-AG-A032-01	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr19:38610443A>G	ENST00000222345.6	+	9	3298	c.2789A>G	c.(2788-2790)tAt>tGt	p.Y930C		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	930					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.Y930C(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAAATCTTCTATGGACGAGGA	0.547																																					p.Y930C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2789G	19						.	A	CYS/TYR	0,4406		0,0,2203	58.0	64.0	62.0		2789	5.6	1.0	19	dbSNP_134	62	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SIPA1L3	NM_015073.1	194	0,2,6501	GG,GA,AA		0.0233,0.0,0.0154	probably-damaging	930/1782	38610443	2,13004	2203	4300	6503	43302283	SO:0001583	missense	23094	exon9			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.2789A>G	19.37:g.38610443A>G	ENSP00000222345:p.Tyr930Cys		43302283	NM_015073	Q2TV87	Missense_Mutation	SNP	ENST00000222345.6	37	CCDS33007.1	.	.	.	.	.	.	.	.	.	.	A	19.24	3.788943	0.70337	0.0	2.33E-4	ENSG00000105738	ENST00000222345	D	0.88431	-2.38	5.63	5.63	0.86233	.	0.064498	0.64402	D	0.000005	D	0.94118	0.8114	M	0.79011	2.435	0.52501	D	0.999951	D	0.89917	1.0	D	0.81914	0.995	D	0.94754	0.7930	10	0.87932	D	0	-11.3605	14.836	0.70183	1.0:0.0:0.0:0.0	.	930	O60292	SI1L3_HUMAN	C	930	ENSP00000222345:Y930C	ENSP00000222345:Y930C	Y	+	2	0	SIPA1L3	43302283	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.412000	0.80091	2.154000	0.67381	0.533000	0.62120	TAT		0.547	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278	
CGB2	114336	broad.mit.edu	37	19	49536406	49536406	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr19:49536406G>C	ENST00000359342.6	+	3	538	c.420G>C	c.(418-420)aaG>aaC	p.K140N	CTB-60B18.6_ENST00000591656.1_Intron	NM_033378.1	NP_203696.2	Q6NT52	CGB2_HUMAN	chorionic gonadotropin, beta polypeptide 2	172						extracellular region (GO:0005576)		p.K140N(1)		large_intestine(1)|lung(1)|stomach(1)	3		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CTTCCTCAAAGGCCCCTCCCC	0.647																																					p.K140N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G420C	19						.						26.0	39.0	35.0					19																	49536406		2188	4287	6475	54228218	SO:0001583	missense	114336	exon3			K03184	CCDS12750.2	19q13.32	2008-02-05			ENSG00000104818	ENSG00000104818			16722	protein-coding gene	gene with protein product		608824				6194155	Standard	NM_033378		Approved		uc002plw.3	Q6NT52	OTTHUMG00000150185	ENST00000359342.6:c.420G>C	19.37:g.49536406G>C	ENSP00000352295:p.Lys140Asn		54228218	NM_033378	B9ZVM5	Missense_Mutation	SNP	ENST00000359342.6	37	CCDS12750.2	.	.	.	.	.	.	.	.	.	.	g	7.101	0.574114	0.13623	.	.	ENSG00000104818	ENST00000359342	T	0.48836	0.8	1.79	0.649	0.17806	.	.	.	.	.	T	0.51176	0.1659	L	0.38838	1.175	0.21740	N	0.999564	P;P;D	0.54772	0.947;0.947;0.968	D;D;P	0.67231	0.95;0.95;0.895	T	0.34477	-0.9827	9	0.54805	T	0.06	.	5.492	0.16781	0.0:0.0:0.6754:0.3246	.	172;142;158	Q6NT52;P01233;P01233-2	CGB2_HUMAN;CGHB_HUMAN;.	N	140	ENSP00000352295:K140N	ENSP00000352295:K140N	K	+	3	2	CGB2	54228218	0.449000	0.25689	0.060000	0.19600	0.064000	0.16182	-0.016000	0.12613	0.283000	0.22279	0.184000	0.17185	AAG		0.647	CGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316745.1	NM_033378	
PRKCG	5582	broad.mit.edu	37	19	54395831	54395831	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr19:54395831G>A	ENST00000263431.3	+	7	1037	c.755G>A	c.(754-756)cGc>cAc	p.R252H	PRKCG_ENST00000540413.1_Missense_Mutation_p.R252H|PRKCG_ENST00000542049.1_Missense_Mutation_p.R139H|PRKCG_ENST00000536044.1_Missense_Mutation_p.R252H	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	252	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.R252H(2)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CGGACCTCCCGCAACGACTTC	0.677																																					p.R252H												.	.	2	Substitution - Missense(2)	large_intestine(1)|pancreas(1)	c.G755A	19						.						56.0	44.0	48.0					19																	54395831		2203	4300	6503	59087643	SO:0001583	missense	5582	exon7			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.755G>A	19.37:g.54395831G>A	ENSP00000263431:p.Arg252His		59087643	NM_002739	B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668309	0.88348	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	4.11	4.11	0.48088	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.60222	0.2252	M	0.62209	1.925	0.54753	D	0.99998	D;P;D;D;D	0.89917	0.994;0.951;1.0;0.96;0.961	D;P;D;P;P	0.73708	0.981;0.455;0.962;0.59;0.792	T	0.64984	-0.6278	9	0.72032	D	0.01	.	14.2039	0.65721	0.0:0.0:1.0:0.0	.	139;252;252;252;252	B7Z8Q0;F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;.;KPCG_HUMAN	H	252;252;252;139	ENSP00000440541:R252H;ENSP00000443493:R252H;ENSP00000263431:R252H;ENSP00000438090:R139H	ENSP00000263431:R252H	R	+	2	0	PRKCG	59087643	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.062000	0.93920	1.990000	0.58119	0.455000	0.32223	CGC		0.677	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	
SORBS3	10174	broad.mit.edu	37	8	22414313	22414313	+	Missense_Mutation	SNP	C	C	G			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr8:22414313C>G	ENST00000240123.7	+	4	689	c.306C>G	c.(304-306)aaC>aaG	p.N102K	SORBS3_ENST00000523402.1_Missense_Mutation_p.N102K	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	102					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)	p.N102K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		ACACCCAGAACTGGTCAGCCA	0.642																																					p.N102K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C306G	8						.						88.0	73.0	78.0					8																	22414313		2203	4300	6503	22470258	SO:0001583	missense	10174	exon4				CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.306C>G	8.37:g.22414313C>G	ENSP00000240123:p.Asn102Lys		22470258	NM_005775	Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	ENST00000240123.7	37	CCDS6031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.16|14.16	2.453242|2.453242	0.43531|0.43531	.|.	.|.	ENSG00000120896|ENSG00000120896	ENST00000520563;ENST00000524057|ENST00000240123;ENST00000523402	.|T	.|0.07114	.|3.22	4.88|4.88	3.99|3.99	0.46301|0.46301	.|.	.|0.456399	.|0.18239	.|N	.|0.147318	T|T	0.06005|0.06005	0.0156|0.0156	N|N	0.17082|0.17082	0.46|0.46	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.09377	.|0.004	T|T	0.31696|0.31696	-0.9934|-0.9934	5|10	.|0.38643	.|T	.|0.18	-12.8834|-12.8834	11.2415|11.2415	0.48972|0.48972	0.0:0.8147:0.1853:0.0|0.0:0.8147:0.1853:0.0	.|.	.|102	.|O60504	.|VINEX_HUMAN	V|K	57;39|102	.|ENSP00000240123:N102K	.|ENSP00000240123:N102K	L|N	+|+	1|3	2|2	SORBS3|SORBS3	22470258|22470258	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	0.863000|0.863000	0.27913|0.27913	1.020000|1.020000	0.39573|0.39573	0.650000|0.650000	0.86243|0.86243	CTG|AAC		0.642	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775	
CCAR2	57805	broad.mit.edu	37	8	22473349	22473349	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr8:22473349C>A	ENST00000308511.4	+	13	1781	c.1532C>A	c.(1531-1533)gCa>gAa	p.A511E	CCAR2_ENST00000520861.1_Missense_Mutation_p.A186E|RP11-582J16.5_ENST00000521025.1_RNA|CCAR2_ENST00000389279.3_Missense_Mutation_p.A511E			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	511					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)	p.A511E(1)									GCTGTCATCGCACGCCCTGGC	0.577																																					p.A511E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1532A	8						.						86.0	94.0	91.0					8																	22473349		2203	4300	6503	22529294	SO:0001583	missense	57805	exon13			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1532C>A	8.37:g.22473349C>A	ENSP00000310670:p.Ala511Glu		22529294	NM_021174	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	CCDS34863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.400672|4.400672	0.83120|0.83120	.|.	.|.	ENSG00000158941|ENSG00000158941	ENST00000308511;ENST00000389279;ENST00000520861|ENST00000520738	T;T;T|.	0.39406|.	1.18;1.18;1.08|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.211578|.	0.38959|.	N|.	0.001514|.	T|T	0.74405|0.74405	0.3712|0.3712	M|M	0.67397|0.67397	2.05|2.05	0.35553|0.35553	D|D	0.804059|0.804059	D;D|.	0.71674|.	0.998;0.996|.	D;P|.	0.67382|.	0.951;0.895|.	T|T	0.77330|0.77330	-0.2628|-0.2628	10|5	0.27082|.	T|.	0.32|.	-14.8773|-14.8773	18.1378|18.1378	0.89627|0.89627	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	186;511|.	G3V119;Q8N163|.	.;K1967_HUMAN|.	E|N	511;511;186|203	ENSP00000310670:A511E;ENSP00000373930:A511E;ENSP00000429773:A186E|.	ENSP00000310670:A511E|.	A|H	+|+	2|1	0|0	KIAA1967|KIAA1967	22529294|22529294	0.997000|0.997000	0.39634|0.39634	0.424000|0.424000	0.26647|0.26647	0.967000|0.967000	0.64934|0.64934	3.865000|3.865000	0.56033|0.56033	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GCA|CAC		0.577	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174	
CNBD1	168975	broad.mit.edu	37	8	88364008	88364008	+	Nonsense_Mutation	SNP	C	C	T	rs75840995	byFrequency	TCGA-AG-A032-01	TCGA-AG-A032-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr8:88364008C>T	ENST00000518476.1	+	9	1189	c.1138C>T	c.(1138-1140)Cga>Tga	p.R380*		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	380								p.R380*(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TGTGAAACTACGATCAAATAA	0.284													C|||	2	0.000399361	0.0	0.0	5008	,	,		14048	0.001		0.001	False		,,,				2504	0.0				p.R380X												.	.	2	Substitution - Nonsense(2)	large_intestine(2)	c.C1138T	8						.						66.0	62.0	63.0					8																	88364008		1795	4034	5829	88433124	SO:0001587	stop_gained	168975	exon9			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1138C>T	8.37:g.88364008C>T	ENSP00000430073:p.Arg380*		88433124	NM_173538		Nonsense_Mutation	SNP	ENST00000518476.1	37	CCDS55259.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	19.98	3.927408	0.73327	.	.	ENSG00000176571	ENST00000518476	.	.	.	5.22	1.26	0.21427	.	1.332330	0.05197	N	0.504149	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-0.1799	2.3862	0.04366	0.1534:0.5309:0.1489:0.1668	.	.	.	.	X	380	.	ENSP00000430073:R380X	R	+	1	2	CNBD1	88433124	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.073000	0.14640	-0.062000	0.13088	-0.324000	0.08512	CGA		0.284	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538	
PRAMEF4	400735	broad.mit.edu	37	1	12941807	12941807	+	Missense_Mutation	SNP	C	C	T	rs562920609		TCGA-AG-A032-01	TCGA-AG-A032-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr1:12941807C>T	ENST00000235349.5	-	3	813	c.743G>A	c.(742-744)cGc>cAc	p.R248H		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	248					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)			p.R248H(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAACGTAGCGAGAGACATC	0.483																																					p.R248H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G743A	1						.						252.0	302.0	284.0					1																	12941807		1442	2515	3957	12864394	SO:0001583	missense	400735	exon3				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.743G>A	1.37:g.12941807C>T	ENSP00000235349:p.Arg248His		12864394	NM_001009611	Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.056274	0.00390	.	.	ENSG00000243073	ENST00000235349	T	0.50548	0.74	1.02	-2.03	0.07365	.	1.275850	0.05537	N	0.565066	T	0.18257	0.0438	N	0.03050	-0.425	0.09310	N	1	B	0.17268	0.021	B	0.16722	0.016	T	0.04242	-1.0966	10	0.15066	T	0.55	.	0.456	0.00509	0.196:0.2286:0.3292:0.2461	.	248	O60810	PRAM4_HUMAN	H	248	ENSP00000235349:R248H	ENSP00000235349:R248H	R	-	2	0	PRAMEF4	12864394	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.376000	0.02561	-2.157000	0.00789	-1.441000	0.01070	CGC		0.483	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611	
GRIK3	2899	broad.mit.edu	37	1	37346245	37346245	+	Silent	SNP	G	G	A	rs377438243		TCGA-AG-A032-01	TCGA-AG-A032-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr1:37346245G>A	ENST00000373091.3	-	3	556	c.540C>T	c.(538-540)gaC>gaT	p.D180D	GRIK3_ENST00000373093.4_Silent_p.D180D	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	180					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.D180D(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CTGTACTGTCGTCATAGACCA	0.612																																					p.D180D												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C540T	1						.						259.0	247.0	251.0					1																	37346245		2203	4300	6503	37118832	SO:0001819	synonymous_variant	2899	exon3			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.540C>T	1.37:g.37346245G>A			37118832	NM_000831	A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	CCDS416.1																																																																																				0.612	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	
MRPL37	51253	broad.mit.edu	37	1	54678234	54678234	+	Missense_Mutation	SNP	A	A	T			TCGA-AG-A032-01	TCGA-AG-A032-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr1:54678234A>T	ENST00000360840.5	+	5	970	c.893A>T	c.(892-894)aAt>aTt	p.N298I	MRPL37_ENST00000336230.6_Missense_Mutation_p.N167I|MRPL37_ENST00000605337.1_Missense_Mutation_p.N298I	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	298					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.N298I(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GACAAAGCCAATTTACGACCA	0.532																																					p.N298I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A893T	1						.						183.0	181.0	181.0					1																	54678234		2203	4300	6503	54450822	SO:0001583	missense	51253	exon5			AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.893A>T	1.37:g.54678234A>T	ENSP00000354086:p.Asn298Ile		54450822	NM_016491	Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	ENST00000360840.5	37	CCDS589.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.30|12.30	1.897956|1.897956	0.33535|0.33535	.|.	.|.	ENSG00000116221|ENSG00000116221	ENST00000398219|ENST00000360840;ENST00000329505;ENST00000336230	.|T;T	.|0.16457	.|2.34;2.34	5.25|5.25	2.62|2.62	0.31277|0.31277	.|.	.|0.343513	.|0.36778	.|N	.|0.002405	T|T	0.31857|0.31857	0.0810|0.0810	M|M	0.71581|0.71581	2.175|2.175	0.27914|0.27914	N|N	0.938501|0.938501	.|D;P;P	.|0.67145	.|0.996;0.942;0.772	.|P;P;B	.|0.59546	.|0.859;0.691;0.346	T|T	0.11179|0.11179	-1.0598|-1.0598	5|10	.|0.62326	.|D	.|0.03	-6.158|-6.158	8.2949|8.2949	0.31980|0.31980	0.7591:0.0:0.2409:0.0|0.7591:0.0:0.2409:0.0	.|.	.|167;235;298	.|A6NHR2;E9PB99;Q9BZE1	.|.;.;RM37_HUMAN	F|I	83|298;235;167	.|ENSP00000354086:N298I;ENSP00000338526:N167I	.|ENSP00000328799:N235I	I|N	+|+	1|2	0|0	MRPL37|MRPL37	54450822|54450822	0.006000|0.006000	0.16342|0.16342	0.014000|0.014000	0.15608|0.15608	0.033000|0.033000	0.12548|0.12548	0.653000|0.653000	0.24902|0.24902	0.210000|0.210000	0.20664|0.20664	0.533000|0.533000	0.62120|0.62120	ATT|AAT		0.532	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022224.1	NM_016491	
KCNJ9	3765	broad.mit.edu	37	1	160057420	160057420	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr1:160057420C>A	ENST00000368088.3	+	3	1237	c.995C>A	c.(994-996)tCg>tAg	p.S332*		NM_004983.2	NP_004974.2	Q92806	KCNJ9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	332					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein activated inward rectifier potassium channel activity (GO:0015467)	p.S332*(1)		biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCACACCTTCGTGCAGTGCT	0.617																																					p.S332X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C995A	1						.						65.0	60.0	62.0					1																	160057420		2203	4300	6503	158324044	SO:0001587	stop_gained	3765	exon3			U52152	CCDS1194.1	1q23.2	2011-07-05			ENSG00000162728	ENSG00000162728		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6270	protein-coding gene	gene with protein product		600932				8575783, 16382105	Standard	NM_004983		Approved	Kir3.3, GIRK3	uc001fuy.1	Q92806	OTTHUMG00000024072	ENST00000368088.3:c.995C>A	1.37:g.160057420C>A	ENSP00000357067:p.Ser332*		158324044	NM_004983	Q5JW75	Nonsense_Mutation	SNP	ENST00000368088.3	37	CCDS1194.1	.	.	.	.	.	.	.	.	.	.	c	37	6.172365	0.97348	.	.	ENSG00000162728	ENST00000368088	.	.	.	4.21	4.21	0.49690	.	0.076672	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	10.9489	0.47317	0.0:0.6688:0.3312:0.0	.	.	.	.	X	332	.	ENSP00000357067:S332X	S	+	2	0	KCNJ9	158324044	0.000000	0.05858	0.871000	0.34182	0.907000	0.53573	0.407000	0.21049	1.909000	0.55274	0.550000	0.68814	TCG		0.617	KCNJ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060628.1	NM_004983	
TMEM25	84866	broad.mit.edu	37	11	118403863	118403863	+	Missense_Mutation	SNP	A	A	G	rs541537470	byFrequency	TCGA-AG-A032-01	TCGA-AG-A032-01	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr11:118403863A>G	ENST00000313236.5	+	4	667	c.614A>G	c.(613-615)aAc>aGc	p.N205S	TMEM25_ENST00000533102.1_Missense_Mutation_p.N205S|RP11-770J1.3_ENST00000532597.1_RNA|TMEM25_ENST00000442938.2_Missense_Mutation_p.N205S|TMEM25_ENST00000354064.7_Missense_Mutation_p.N101S|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|TMEM25_ENST00000354284.4_Missense_Mutation_p.N205S|TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000359862.4_Missense_Mutation_p.N205S|RP11-770J1.3_ENST00000528578.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA|TMEM25_ENST00000411589.2_Missense_Mutation_p.N205S|TMEM25_ENST00000544878.1_Intron|TMEM25_ENST00000524725.1_Missense_Mutation_p.N205S	NM_032780.3	NP_116169.2	Q86YD3	TMM25_HUMAN	transmembrane protein 25	205						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CTGGCACACAACCTCTCGGTG	0.627													A|||	2	0.000399361	0.0	0.0	5008	,	,		18612	0.0		0.0	False		,,,				2504	0.002				p.N205S												.	.	0			c.A614G	11						.						55.0	45.0	48.0					11																	118403863		2200	4295	6495	117909073	SO:0001583	missense	84866	exon4			AK075437	CCDS8398.1, CCDS44745.1, CCDS44746.1, CCDS44747.1, CCDS44748.1	11q23.3	2013-01-11			ENSG00000149582	ENSG00000149582		"""Immunoglobulin superfamily / C2-set domain containing"""	25890	protein-coding gene	gene with protein product		613934				15254712, 12975309	Standard	NM_001144034		Approved	FLJ14399	uc010rye.2	Q86YD3	OTTHUMG00000166339	ENST00000313236.5:c.614A>G	11.37:g.118403863A>G	ENSP00000315635:p.Asn205Ser		117909073	NM_001144037	A8K8J4|B0YJA6|B0YJA7|B0YJA9|G5E9U4|Q6UW89|Q86UA7|Q8NBL5|Q96KA6|Q96MW9	Missense_Mutation	SNP	ENST00000313236.5	37	CCDS8398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.3|20.3	3.962231|3.962231	0.74016|0.74016	.|.	.|.	ENSG00000149582|ENSG00000149582	ENST00000411589;ENST00000442938;ENST00000359862;ENST00000354284;ENST00000354064;ENST00000533102;ENST00000313236;ENST00000524725|ENST00000526973	T;T;T;T;T;T;T;T|.	0.36699|.	2.14;2.11;2.14;1.91;1.24;1.87;1.96;2.14|.	5.97|5.97	5.97|5.97	0.96955|0.96955	Immunoglobulin-like fold (1);|.	0.046878|.	0.85682|.	D|.	0.000000|.	T|T	0.51924|0.51924	0.1703|0.1703	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.76494|.	0.998;0.996;0.996;0.997;0.999;0.999;0.986;0.997|.	D;P;P;D;D;D;P;D|.	0.78314|.	0.98;0.883;0.883;0.946;0.991;0.986;0.84;0.946|.	T|T	0.49995|0.49995	-0.8879|-0.8879	10|5	0.25106|.	T|.	0.35|.	-28.6633|-28.6633	10.7186|10.7186	0.46028|0.46028	0.8583:0.0:0.0:0.1417|0.8583:0.0:0.0:0.1417	.|.	205;205;205;205;205;205;101;205|.	Q86YD3;B7Z4E4;Q8NBL5;G5E9U4;Q86YD3-4;E9PKP3;Q86YD3-3;Q86YD3-2|.	TMM25_HUMAN;.;.;.;.;.;.;.|.	S|A	205;205;205;205;101;205;205;205|89	ENSP00000411882:N205S;ENSP00000416071:N205S;ENSP00000352924:N205S;ENSP00000346237:N205S;ENSP00000278959:N101S;ENSP00000431548:N205S;ENSP00000315635:N205S;ENSP00000431205:N205S|.	ENSP00000315635:N205S|.	N|T	+|+	2|1	0|0	TMEM25|TMEM25	117909073|117909073	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.903000|0.903000	0.53119|0.53119	5.215000|5.215000	0.65241|0.65241	2.288000|2.288000	0.76882|0.76882	0.533000|0.533000	0.62120|0.62120	AAC|ACC		0.627	TMEM25-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389266.1	NM_032780	
KCNJ1	3758	broad.mit.edu	37	11	128710019	128710019	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr11:128710019C>A	ENST00000392664.2	-	2	293	c.177G>T	c.(175-177)caG>caT	p.Q59H	KCNJ1_ENST00000392665.2_Missense_Mutation_p.Q40H|KCNJ1_ENST00000392666.1_Missense_Mutation_p.Q40H|KCNJ1_ENST00000440599.2_Missense_Mutation_p.Q40H|KCNJ1_ENST00000324036.3_Missense_Mutation_p.Q40H	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	59					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.Q59H(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	TAAACCTTGACTGTGCCTCCA	0.453																																					p.Q40H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G120T	11						.						198.0	184.0	189.0					11																	128710019		2201	4297	6498	128215229	SO:0001583	missense	3758	exon3			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.177G>T	11.37:g.128710019C>A	ENSP00000376432:p.Gln59His		128215229	NM_153765	B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923832	0.52653	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664;ENST00000324003	D;D;D;D;D;D	0.94046	-3.34;-3.34;-3.34;-3.34;-3.34;-3.34	5.66	0.076	0.14401	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.257343	0.41294	D	0.000902	D	0.93795	0.8016	M	0.61703	1.905	0.45946	D	0.998777	P	0.43477	0.808	P	0.54312	0.748	D	0.92062	0.5657	10	0.66056	D	0.02	.	11.3338	0.49492	0.0:0.6384:0.0:0.3616	.	59	P48048	IRK1_HUMAN	H	40;40;40;40;59;40	ENSP00000376433:Q40H;ENSP00000376434:Q40H;ENSP00000406320:Q40H;ENSP00000316233:Q40H;ENSP00000376432:Q59H;ENSP00000316136:Q40H	ENSP00000316136:Q40H	Q	-	3	2	KCNJ1	128215229	0.995000	0.38212	0.410000	0.26471	0.901000	0.52897	0.471000	0.22100	0.054000	0.16065	0.455000	0.32223	CAG		0.453	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220	
KIAA1549L	25758	broad.mit.edu	37	11	33581342	33581342	+	Silent	SNP	C	C	T			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr11:33581342C>T	ENST00000321505.4	+	6	3192	c.3012C>T	c.(3010-3012)gtC>gtT	p.V1004V	KIAA1549L_ENST00000389726.3_Silent_p.V1010V|KIAA1549L_ENST00000265654.5_Silent_p.V1010V			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1004						integral component of membrane (GO:0016021)		p.V1010V(1)|p.V1004V(1)									TGGTGTACGTCGTGGGCAATC	0.582																																					p.V1004V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3012T	11						.						101.0	100.0	100.0					11																	33581342		2147	4243	6390	33537918	SO:0001819	synonymous_variant	25758	exon6			U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3012C>T	11.37:g.33581342C>T			33537918	NM_012194	B0QYU0	Silent	SNP	ENST00000321505.4	37	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373908	0.24857	.	.	ENSG00000110427	ENST00000526400	.	.	.	5.42	1.19	0.21007	.	.	.	.	.	T	0.42245	0.1194	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.26643	-1.0097	4	.	.	.	-5.1646	1.2122	0.01907	0.1818:0.1529:0.3623:0.303	.	.	.	.	L	402	.	.	S	+	2	0	C11orf41	33537918	0.910000	0.30920	1.000000	0.80357	0.984000	0.73092	-0.019000	0.12546	0.358000	0.24211	0.573000	0.79308	TCG		0.582	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	
C11orf85	283129	broad.mit.edu	37	11	64707210	64707210	+	Silent	SNP	G	G	A			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr11:64707210G>A	ENST00000301896.5	-	10	649	c.576C>T	c.(574-576)ggC>ggT	p.G192G	C11orf85_ENST00000536065.1_Nonsense_Mutation_p.R108*|C11orf85_ENST00000530444.1_Nonsense_Mutation_p.R136*|C11orf85_ENST00000432175.1_Silent_p.G192G	NM_001037225.1	NP_001032302.1	Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	192								p.G192G(1)		breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						GGGACAATTCGCCCTGGCAGG	0.532																																					p.G192G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C576T	11						.						81.0	78.0	79.0					11																	64707210		2201	4297	6498	64463786	SO:0001819	synonymous_variant	283129	exon9			AK093130, BC033501	CCDS31603.1, CCDS73316.1	11q13.1	2012-08-10			ENSG00000168070	ENSG00000168070			27441	protein-coding gene	gene with protein product						14702039	Standard	XM_005273918		Approved		uc001ocb.1	Q3KP22		ENST00000301896.5:c.576C>T	11.37:g.64707210G>A			64463786	NM_001037225	B3KS99	Nonsense_Mutation	SNP	ENST00000301896.5	37	CCDS31603.1	.	.	.	.	.	.	.	.	.	.	G	44	11.131308	0.99520	.	.	ENSG00000168070	ENST00000532617;ENST00000530444;ENST00000536065	.	.	.	3.43	-1.21	0.09524	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-4.2001	1.7501	0.02970	0.1132:0.1633:0.3419:0.3816	.	.	.	.	X	35;136;108	.	ENSP00000434568:R136X	R	-	1	2	C11orf85	64463786	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.295000	0.19065	-0.216000	0.10048	0.563000	0.77884	CGA		0.532	C11orf85-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385477.1	NM_001037225	
P4HA3	283208	broad.mit.edu	37	11	74009335	74009335	+	Silent	SNP	T	T	C			TCGA-AG-A032-01	TCGA-AG-A032-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr11:74009335T>C	ENST00000331597.4	-	4	684	c.639A>G	c.(637-639)ggA>ggG	p.G213G	P4HA3_ENST00000427714.2_Silent_p.G213G	NM_182904.3	NP_878907.1	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha polypeptide III	213						endoplasmic reticulum (GO:0005783)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|procollagen-proline 4-dioxygenase activity (GO:0004656)	p.G213G(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CTCCGTAAGATCCTCGGAAGA	0.498																																					p.G213G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A639G	11						.						123.0	111.0	115.0					11																	74009335		2200	4293	6493	73686983	SO:0001819	synonymous_variant	283208	exon4			AY327887	CCDS8230.1, CCDS73347.1	11q13	2008-12-09	2008-12-09			ENSG00000149380			30135	protein-coding gene	gene with protein product	"""collagen prolyl 4-hydroxylase alpha(III)"""	608987	"""procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide III"""			14500733	Standard	XM_005273924		Approved	C-P4Halpha(III)	uc001ouz.3	Q7Z4N8		ENST00000331597.4:c.639A>G	11.37:g.74009335T>C			73686983	NM_182904	A0AV13|B4DUD3|Q5EBL3|Q5JPA9	Silent	SNP	ENST00000331597.4	37	CCDS8230.1																																																																																				0.498	P4HA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382988.1	NM_182904	
GRM5	2915	broad.mit.edu	37	11	88300544	88300544	+	Silent	SNP	G	G	A			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr11:88300544G>A	ENST00000305447.4	-	7	2456	c.2307C>T	c.(2305-2307)aaC>aaT	p.N769N	GRM5_ENST00000418177.2_Silent_p.N769N|GRM5_ENST00000455756.2_Silent_p.N769N|GRM5_ENST00000305432.5_Silent_p.N769N|GRM5_ENST00000393297.1_Silent_p.N769N	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	769					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.N769N(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	ACTTGGCCTCGTTGAAGTTAG	0.433																																					p.N769N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C2307T	11						.						190.0	167.0	175.0					11																	88300544		2201	4299	6500	87940192	SO:0001819	synonymous_variant	2915	exon8			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.2307C>T	11.37:g.88300544G>A			87940192	NM_000842	Q6J164	Silent	SNP	ENST00000305447.4	37	CCDS44694.1																																																																																				0.433	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
OPCML	4978	broad.mit.edu	37	11	132307179	132307179	+	Missense_Mutation	SNP	C	C	T	rs148167692		TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr11:132307179C>T	ENST00000331898.7	-	4	1179	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Missense_Mutation_p.E201K|OPCML_ENST00000524381.1_Missense_Mutation_p.E194K|OPCML_ENST00000374778.4_Missense_Mutation_p.E160K	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	201	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.E201K(2)|p.E201Q(1)|p.E194Q(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GCGCTGCATTCGTACTCCCCG	0.532																																					p.E194K												.	.	4	Substitution - Missense(4)	lung(2)|large_intestine(1)|skin(1)	c.G580A	11						.						107.0	92.0	97.0					11																	132307179		2201	4297	6498	131812389	SO:0001583	missense	4978	exon5			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.601G>A	11.37:g.132307179C>T	ENSP00000330862:p.Glu201Lys		131812389	NM_001012393	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Missense_Mutation	SNP	ENST00000331898.7	37	CCDS8492.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482640	0.96307	.	.	ENSG00000183715	ENST00000331898;ENST00000524381;ENST00000374778;ENST00000416724;ENST00000541867	T;T;T;T	0.39056	1.32;1.32;1.1;1.1	5.6	5.6	0.85130	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.049848	0.85682	D	0.000000	T	0.66376	0.2783	M	0.71206	2.165	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.992;0.995	T	0.68488	-0.5395	10	0.87932	D	0	-21.1241	19.225	0.93815	0.0:1.0:0.0:0.0	.	201;194;200;201	B7ZLQ1;Q7Z3W6;B7ZLQ0;Q14982	.;.;.;OPCM_HUMAN	K	201;194;160;168;201	ENSP00000330862:E201K;ENSP00000434750:E194K;ENSP00000363910:E160K;ENSP00000445496:E201K	ENSP00000330862:E201K	E	-	1	0	OPCML	131812389	1.000000	0.71417	0.955000	0.39395	0.841000	0.47740	7.487000	0.81328	2.639000	0.89480	0.563000	0.77884	GAA		0.532	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393	
TAAR6	319100	broad.mit.edu	37	6	132891469	132891469	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr6:132891469C>A	ENST00000275198.1	+	1	9	c.9C>A	c.(7-9)agC>agA	p.S3R		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	3					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.S3R(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TTATGAGCAGCAATTCATCCC	0.468																																					p.S3R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9A	6						.						80.0	77.0	78.0					6																	132891469		2203	4300	6503	132933162	SO:0001583	missense	319100	exon1			AF380192	CCDS5155.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146383	ENSG00000146383		"""GPCR / Class A : Trace amine associated receptors"""	20978	protein-coding gene	gene with protein product		608923	"""trace amine receptor 4"""	TRAR4		11459929, 15718104	Standard	NM_175067		Approved	TA4	uc011eck.2	Q96RI8	OTTHUMG00000015579	ENST00000275198.1:c.9C>A	6.37:g.132891469C>A	ENSP00000275198:p.Ser3Arg		132933162	NM_175067	Q5VUQ4	Missense_Mutation	SNP	ENST00000275198.1	37	CCDS5155.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370995	0.24771	.	.	ENSG00000146383	ENST00000275198	T	0.62364	0.03	5.01	-1.13	0.09775	.	0.663319	0.13676	U	0.370542	T	0.21307	0.0513	L	0.38531	1.155	0.09310	N	1	B	0.15930	0.015	B	0.15484	0.013	T	0.17806	-1.0357	10	0.30854	T	0.27	0.2753	2.7874	0.05377	0.1268:0.2432:0.1243:0.5058	.	3	Q96RI8	TAAR6_HUMAN	R	3	ENSP00000275198:S3R	ENSP00000275198:S3R	S	+	3	2	TAAR6	132933162	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.060000	0.11712	-0.480000	0.06803	-0.222000	0.12452	AGC		0.468	TAAR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042255.1	NM_175067	
GRM1	2911	broad.mit.edu	37	6	146720509	146720509	+	Silent	SNP	C	C	T	rs138085475		TCGA-AG-A032-01	TCGA-AG-A032-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr6:146720509C>T	ENST00000282753.1	+	7	2569	c.2334C>T	c.(2332-2334)ccC>ccT	p.P778P	GRM1_ENST00000507907.1_Silent_p.P778P|GRM1_ENST00000392299.2_Silent_p.P778P|GRM1_ENST00000361719.2_Silent_p.P778P|GRM1_ENST00000492807.2_Silent_p.P778P|GRM1_ENST00000355289.4_Silent_p.P778P			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	778					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.P778P(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		GCAACGTGCCCGCCAACTTCA	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22282	0.0		0.0	False		,,,				2504	0.0				p.P778P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2334T	6						.	C	,	0,4406		0,0,2203	160.0	140.0	147.0		2334,2334	3.8	1.0	6	dbSNP_134	147	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GRM1	NM_000838.3,NM_001114329.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	778/1195,778/907	146720509	1,13005	2203	4300	6503	146762202	SO:0001819	synonymous_variant	2911	exon8			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2334C>T	6.37:g.146720509C>T			146762202	NM_001114329	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	CCDS5209.1																																																																																				0.507	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838	
OR12D3	81797	broad.mit.edu	37	6	29342571	29342571	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr6:29342571C>A	ENST00000396806.3	-	1	497	c.494G>T	c.(493-495)aGt>aTt	p.S165I	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S165I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						GCCACAAAAACTCAGGTGTGC	0.473																																					p.S165I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G494T	6						.						77.0	77.0	77.0					6																	29342571		1510	2709	4219	29450550	SO:0001583	missense	81797	exon1				CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.494G>T	6.37:g.29342571C>A	ENSP00000380023:p.Ser165Ile		29450550	NM_030959	A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236886	0.22711	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.00084	8.75	4.18	-7.04	0.01578	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	M	0.75884	2.315	0.09310	N	1	P	0.41498	0.752	P	0.45474	0.482	T	0.13124	-1.0521	9	0.59425	D	0.04	-0.494	9.0382	0.36300	0.0:0.1499:0.4681:0.382	.	165	Q9UGF7	O12D3_HUMAN	I	165	ENSP00000380023:S165I	ENSP00000366348:S165I	S	-	2	0	OR12D3	29450550	0.000000	0.05858	0.000000	0.03702	0.312000	0.27988	-0.564000	0.05936	-0.942000	0.03695	0.195000	0.17529	AGT		0.473	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3		
VARS2	57176	broad.mit.edu	37	6	30889937	30889937	+	Silent	SNP	G	G	A			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr6:30889937G>A	ENST00000321897.5	+	19	2483	c.1851G>A	c.(1849-1851)acG>acA	p.T617T	VARS2_ENST00000541562.1_Silent_p.T647T|VARS2_ENST00000416670.2_Silent_p.T617T|VARS2_ENST00000542001.1_Silent_p.T477T|VARS2_ENST00000476162.1_3'UTR			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	617					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.T617T(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TTTTGGAAACGGGCAGCGACC	0.622																																					p.T477T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1431A	6						.						98.0	111.0	106.0					6																	30889937		1509	2709	4218	30997916	SO:0001819	synonymous_variant	57176	exon19			AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1851G>A	6.37:g.30889937G>A			30997916	NM_001167733	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Silent	SNP	ENST00000321897.5	37	CCDS34387.1																																																																																				0.622	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442	
ZNF292	23036	broad.mit.edu	37	6	87970070	87970070	+	Silent	SNP	C	C	T	rs367626971	byFrequency	TCGA-AG-A032-01	TCGA-AG-A032-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr6:87970070C>T	ENST00000369577.3	+	8	6766	c.6723C>T	c.(6721-6723)caC>caT	p.H2241H	ZNF292_ENST00000339907.4_Silent_p.H2236H	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2241						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.H2241H(1)|p.H2096H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGGCAGACCACGGGATTGGAC	0.423													C|||	60	0.0119808	0.0	0.0	5008	,	,		20938	0.0		0.0	False		,,,				2504	0.0613				p.H2241H												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C6723T	6						.						93.0	91.0	92.0					6																	87970070		1893	4120	6013	88026789	SO:0001819	synonymous_variant	23036	exon8			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6723C>T	6.37:g.87970070C>T			88026789	NM_015021	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	CCDS47457.1																																																																																				0.423	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
FNDC1	84624	broad.mit.edu	37	6	159670205	159670205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr6:159670205C>T	ENST00000297267.9	+	16	5025	c.4825C>T	c.(4825-4827)Cga>Tga	p.R1609*	FNDC1_ENST00000340366.6_Nonsense_Mutation_p.R1546*	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1609					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)		p.R1609*(1)		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)		TGGAAGGAAACGATTTGTTGG	0.443																																					p.R1609X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4825T	6						.						38.0	39.0	39.0					6																	159670205		1893	4112	6005	159590195	SO:0001587	stop_gained	84624	exon16			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.4825C>T	6.37:g.159670205C>T	ENSP00000297267:p.Arg1609*		159590195	NM_032532	A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Nonsense_Mutation	SNP	ENST00000297267.9	37	CCDS47512.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	46|46	12.160670|12.160670	0.99642|0.99642	.|.	.|.	ENSG00000164694|ENSG00000164694	ENST00000297267;ENST00000340366|ENST00000329629	.|.	.|.	.|.	5.57|5.57	2.54|2.54	0.30619|0.30619	.|.	0.152154|.	0.46145|.	D|.	0.000320|.	.|T	.|0.47544	.|0.1451	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.46005	.|-0.9222	.|3	.|.	.|.	.|.	-1.4313|-1.4313	13.1779|13.1779	0.59637|0.59637	0.5316:0.4684:0.0:0.0|0.5316:0.4684:0.0:0.0	.|.	.|.	.|.	.|.	X|M	1609;1546|1504	.|.	.|.	R|T	+|+	1|2	2|0	FNDC1|FNDC1	159590195|159590195	0.994000|0.994000	0.37717|0.37717	0.998000|0.998000	0.56505|0.56505	0.977000|0.977000	0.68977|0.68977	0.980000|0.980000	0.29513|0.29513	0.644000|0.644000	0.30656|0.30656	0.650000|0.650000	0.86243|0.86243	CGA|ACG		0.443	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
RAB11FIP4	84440	broad.mit.edu	37	17	29858687	29858688	+	Nonsense_Mutation	DNP	CA	CA	GG			TCGA-AG-A032-01	TCGA-AG-A032-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr17:29858687_29858688CA>GG	ENST00000325874.8	+	15	2080_2081	c.1851_1852CA>GG	c.(1849-1854)taCAtg>taGGtg	p.617_618YM>*V	RAB11FIP4_ENST00000394744.2_Nonsense_Mutation_p.515_516YM>*V	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	617	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis (GO:0000910)|transport (GO:0006810)|viral process (GO:0016032)	cleavage furrow (GO:0032154)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|midbody (GO:0030496)|recycling endosome membrane (GO:0055038)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.Y617>?(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TGAGGCAGTACATGGACAAGAT	0.569																																					.												.	.	1	Complex(1)	large_intestine(1)	c.1851_1852GG	17						.																																			26882808	SO:0001587	stop_gained	84440	exon15			AB058724	CCDS11267.1	17q11.2	2013-01-10			ENSG00000131242	ENSG00000131242		"""EF-hand domain containing"""	30267	protein-coding gene	gene with protein product		611999				11347906, 11468690	Standard	NM_032932		Approved	RAB11-FIP4, KIAA1821, MGC11316, FLJ00131	uc002hgn.1	Q86YS3	OTTHUMG00000132787	Exception_encountered	17.37:g.29858687_29858688delinsGG	ENSP00000312837:p.Y617_M618delins*V		26882807	NM_032932	Q52LI1|Q8N829|Q8NDT7|Q969D8	Nonsense_Mutation	DNP	ENST00000325874.8	37	CCDS11267.1																																																																																				0.569	RAB11FIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256195.2	NM_032932	
SPNS3	201305	broad.mit.edu	37	17	4337389	4337389	+	Silent	SNP	A	A	C			TCGA-AG-A032-01	TCGA-AG-A032-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr17:4337389A>C	ENST00000355530.2	+	1	407	c.127A>C	c.(127-129)Agg>Cgg	p.R43R	SPNS3_ENST00000576069.1_3'UTR|SPNS3_ENST00000333476.2_5'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	43					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.R43R(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GCCCCCGTGGAGGGCCTACGT	0.657																																					p.R43R												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A127C	17						.						73.0	72.0	72.0					17																	4337389		2203	4300	6503	4284138	SO:0001819	synonymous_variant	201305	exon1				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.127A>C	17.37:g.4337389A>C			4284138	NM_182538	Q8IZ31	Silent	SNP	ENST00000355530.2	37	CCDS11045.1																																																																																				0.657	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438793.1	NM_182538	
CCL18	6362	broad.mit.edu	37	17	34397894	34397894	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr17:34397894C>A	ENST00000004921.3	+	2	218	c.155C>A	c.(154-156)cCc>cAc	p.P52H	AC069363.1_ENST00000588864.1_RNA|AC069363.1_ENST00000590992.1_RNA	NM_002988.2	NP_002979.1	P55774	CCL18_HUMAN	chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)	52					cell chemotaxis (GO:0060326)|cell communication (GO:0007154)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|response to biotic stimulus (GO:0009607)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.P52H(1)		endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAAACCAGCCCCCAGTGCCCC	0.552																																					p.P52H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C155A	17						.						59.0	56.0	57.0					17																	34397894		2203	4300	6503	31422007	SO:0001583	missense	6362	exon2			Y13710	CCDS11306.1	17q11.2	2014-05-06	2002-08-22	2002-08-23	ENSG00000006074	ENSG00000275385		"""Chemokine ligands"""	10616	protein-coding gene	gene with protein product		603757	"""small inducible cytokine subfamily A (Cys-Cys), member 18, pulmonary and activation-regulated"""	SCYA18		9233607, 10049593	Standard	NM_002988		Approved	DC-CK1, PARC, AMAC-1, DCCK1, MIP-4, CKb7	uc002hku.3	P55774	OTTHUMG00000188410	ENST00000004921.3:c.155C>A	17.37:g.34397894C>A	ENSP00000004921:p.Pro52His		31422007	NM_002988	B5BUM2|Q53X71	Missense_Mutation	SNP	ENST00000004921.3	37	CCDS11306.1	.	.	.	.	.	.	.	.	.	.	.	14.40	2.524958	0.44969	.	.	ENSG00000006074	ENST00000004921	T	0.14640	2.49	3.56	1.5	0.22942	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.272209	0.36303	N	0.002677	T	0.20536	0.0494	.	.	.	0.21802	N	0.999536	D	0.55385	0.971	P	0.55391	0.775	T	0.04635	-1.0937	9	0.59425	D	0.04	.	5.0734	0.14618	0.1231:0.2202:0.6568:0.0	.	52	P55774	CCL18_HUMAN	H	52	ENSP00000004921:P52H	ENSP00000004921:P52H	P	+	2	0	CCL18	31422007	0.992000	0.36948	0.462000	0.27118	0.001000	0.01503	1.673000	0.37534	0.312000	0.23038	-0.839000	0.03059	CCC		0.552	CCL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256583.1	NM_002988	
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-AG-A032-01	TCGA-AG-A032-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)																											p.R248W	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,haematopoietic_and_lymphoid_tissue,lymph_node,Substitution - Missense,+1	.	617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	c.C742T	17	GRCh37	CM010465|CM900211	TP53	M	rs121912651	.						151.0	112.0	125.0					17																	7577539		2203	4300	6503	7518264	SO:0001583	missense	7157	exon7	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;	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp		7518264	NM_001126114	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	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
BPTF	2186	broad.mit.edu	37	17	65955758	65955758	+	Silent	SNP	T	T	C	rs139709271|rs202116659		TCGA-AG-A032-01	TCGA-AG-A032-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr17:65955758T>C	ENST00000321892.4	+	26	8467	c.8406T>C	c.(8404-8406)gcT>gcC	p.A2802A	BPTF_ENST00000306378.6_Silent_p.A2676A|BPTF_ENST00000424123.3_Silent_p.A2520A|BPTF_ENST00000335221.5_Silent_p.A2659A			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2802	Pro-rich.			AP -> VL (in Ref. 1; BAA89208). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A2676A(1)|p.A2659A(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGACAccagctcctccagccc	0.582																																					p.A2676A												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.T8028C	17						.						40.0	33.0	36.0					17																	65955758		2203	4300	6503	63386220	SO:0001819	synonymous_variant	2186	exon24			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8406T>C	17.37:g.65955758T>C			63386220	NM_182641	Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37																																																																																					0.582	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
SCNN1G	6340	broad.mit.edu	37	16	23197740	23197740	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr16:23197740C>T	ENST00000300061.2	+	2	291	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	50					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.R50C(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GTCCCGCGGCCGTCTGCGCCG	0.632																																					p.R50C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C148T	16						.						59.0	55.0	57.0					16																	23197740		2197	4300	6497	23105241	SO:0001583	missense	6340	exon2			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.148C>T	16.37:g.23197740C>T	ENSP00000300061:p.Arg50Cys		23105241	NM_001039	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	ENST00000300061.2	37	CCDS10608.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525727	0.64860	.	.	ENSG00000166828	ENST00000300061	T	0.63417	-0.04	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.81108	0.4754	M	0.84082	2.675	0.58432	D	0.999999	D	0.89917	1.0	D	0.73380	0.98	D	0.83870	0.0273	10	0.87932	D	0	-34.9274	17.8144	0.88627	0.0:1.0:0.0:0.0	.	50	P51170	SCNNG_HUMAN	C	50	ENSP00000300061:R50C	ENSP00000300061:R50C	R	+	1	0	SCNN1G	23105241	1.000000	0.71417	1.000000	0.80357	0.077000	0.17291	5.696000	0.68287	2.538000	0.85594	0.561000	0.74099	CGT		0.632	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254496.1	NM_001039	
MAPK3	5595	broad.mit.edu	37	16	30128045	30128045	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr16:30128045C>A	ENST00000263025.4	-	8	1168	c.1084G>T	c.(1084-1086)Gag>Tag	p.E362*	MAPK3_ENST00000484663.1_Nonsense_Mutation_p.E248*|MAPK3_ENST00000322266.5_Nonsense_Mutation_p.E318*|GDPD3_ENST00000406256.3_5'Flank|MAPK3_ENST00000494643.1_5'Flank|MAPK3_ENST00000395202.1_Nonsense_Mutation_p.E318*|MAPK3_ENST00000395200.1_Nonsense_Mutation_p.E294*|MAPK3_ENST00000403394.1_3'UTR	NM_002746.2	NP_002737.2	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	362					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage induced protein phosphorylation (GO:0006975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|interleukin-1-mediated signaling pathway (GO:0070498)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apolipoprotein binding (GO:2000657)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to exogenous dsRNA (GO:0043330)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)	p.E362*(1)								Arsenic trioxide(DB01169)|Sulindac(DB00605)	AAGATGAGCTCCTTCAGCCGC	0.637																																					p.E362X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G1084T	16						.						55.0	59.0	58.0					16																	30128045		2197	4300	6497	30035546	SO:0001587	stop_gained	5595	exon8			M84490	CCDS10672.1, CCDS42148.1, CCDS42149.1	16p11.2	2011-06-10			ENSG00000102882	ENSG00000102882	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6877	protein-coding gene	gene with protein product		601795		PRKM3		9628824	Standard	NM_001109891		Approved	ERK1, p44mapk, p44erk1	uc002dws.3	P27361	OTTHUMG00000132149	ENST00000263025.4:c.1084G>T	16.37:g.30128045C>A	ENSP00000263025:p.Glu362*		30035546	NM_002746	A8CZ58|B0LPG3|Q8NHX1	Nonsense_Mutation	SNP	ENST00000263025.4	37	CCDS10672.1	.	.	.	.	.	.	.	.	.	.	C	34	5.305747	0.95601	.	.	ENSG00000102882	ENST00000263025;ENST00000484663;ENST00000322266;ENST00000395200;ENST00000395202;ENST00000478356	.	.	.	5.79	5.79	0.91817	.	0.182248	0.47093	D	0.000241	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-8.544	18.7978	0.92003	0.0:1.0:0.0:0.0	.	.	.	.	X	362;248;318;294;318;125	.	ENSP00000263025:E362X	E	-	1	0	MAPK3	30035546	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.639000	0.83342	2.735000	0.93741	0.655000	0.94253	GAG		0.637	MAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255196.2		
LRRC30	339291	broad.mit.edu	37	18	7231726	7231726	+	Missense_Mutation	SNP	G	G	A	rs180848748		TCGA-AG-A032-01	TCGA-AG-A032-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr18:7231726G>A	ENST00000383467.2	+	1	604	c.590G>A	c.(589-591)cGc>cAc	p.R197H		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	197								p.R197H(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGCTCGAATCGCCTGGAAAAC	0.542																																					p.R197H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G590A	18						.						82.0	86.0	85.0					18																	7231726		2109	4250	6359	7221726	SO:0001583	missense	339291	exon1				CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.590G>A	18.37:g.7231726G>A	ENSP00000372959:p.Arg197His		7221726	NM_001105581		Missense_Mutation	SNP	ENST00000383467.2	37	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.879296	0.72294	.	.	ENSG00000206422	ENST00000383467	T	0.25912	1.77	5.65	4.77	0.60923	.	0.332635	0.35495	N	0.003171	T	0.20495	0.0493	L	0.61036	1.89	0.36203	D	0.850872	P	0.39737	0.685	B	0.28385	0.089	T	0.19386	-1.0307	10	0.46703	T	0.11	.	8.3312	0.32187	0.2422:0.0:0.7578:0.0	.	197	A6NM36	LRC30_HUMAN	H	197	ENSP00000372959:R197H	ENSP00000372959:R197H	R	+	2	0	LRRC30	7221726	0.985000	0.35326	1.000000	0.80357	0.980000	0.70556	3.065000	0.49994	2.827000	0.97445	0.650000	0.86243	CGC		0.542	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	XM_292678	
ITIH1	3697	broad.mit.edu	37	3	52825622	52825622	+	Missense_Mutation	SNP	A	A	G			TCGA-AG-A032-01	TCGA-AG-A032-01	A	A					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr3:52825622A>G	ENST00000273283.2	+	21	2608	c.2584A>G	c.(2584-2586)Aac>Gac	p.N862D	ITIH1_ENST00000540715.1_Missense_Mutation_p.N720D|ITIH1_ENST00000537050.1_Missense_Mutation_p.N574D|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000405128.3_Missense_Mutation_p.N228D	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	862	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.N862D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GGTGGTGAGGAACCGCCGGCT	0.582																																					p.N720D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2158G	3						.						69.0	70.0	70.0					3																	52825622		2203	4300	6503	52800662	SO:0001583	missense	3697	exon19				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2584A>G	3.37:g.52825622A>G	ENSP00000273283:p.Asn862Asp		52800662	NM_001166434	A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Missense_Mutation	SNP	ENST00000273283.2	37	CCDS2864.1	.	.	.	.	.	.	.	.	.	.	A	13.55	2.269560	0.40095	.	.	ENSG00000055957	ENST00000273283;ENST00000540715;ENST00000537050;ENST00000428133;ENST00000405128	T;T;T;T;T	0.11169	2.8;2.8;2.8;2.8;2.8	5.61	3.23	0.37069	Inter-alpha-trypsin inhibitor heavy chain, C-terminal (1);	0.345097	0.34555	N	0.003866	T	0.14700	0.0355	M	0.66939	2.045	0.26289	N	0.978152	B;B;B	0.24920	0.002;0.01;0.114	B;B;B	0.33196	0.013;0.07;0.159	T	0.15607	-1.0431	10	0.56958	D	0.05	-18.573	8.1346	0.31048	0.7773:0.0:0.2227:0.0	.	720;228;862	F5H165;B5MCP1;P19827	.;.;ITIH1_HUMAN	D	862;720;574;415;228	ENSP00000273283:N862D;ENSP00000443973:N720D;ENSP00000443847:N574D;ENSP00000395836:N415D;ENSP00000384589:N228D	ENSP00000273283:N862D	N	+	1	0	ITIH1	52800662	1.000000	0.71417	0.939000	0.37840	0.868000	0.49771	3.111000	0.50360	0.420000	0.25954	0.482000	0.46254	AAC		0.582	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317522.1	NM_002215	
CPNE4	131034	broad.mit.edu	37	3	131415403	131415403	+	Missense_Mutation	SNP	G	G	A	rs373479979		TCGA-AG-A032-01	TCGA-AG-A032-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr3:131415403G>A	ENST00000512055.1	-	9	2616	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	CPNE4_ENST00000502818.1_Missense_Mutation_p.R182W|CPNE4_ENST00000512332.1_Missense_Mutation_p.R182W|CPNE4_ENST00000511604.1_Missense_Mutation_p.R164W|CPNE4_ENST00000429747.1_Missense_Mutation_p.R164W			Q96A23	CPNE4_HUMAN	copine IV	164	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)		p.R164W(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TCCAATTTCCGTGCATTGAAT	0.403																																					p.R164W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C490T	3						.	G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	182.0	164.0	170.0		490	4.7	1.0	3		170	0,8600		0,0,4300	no	missense	CPNE4	NM_130808.1	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	164/558	131415403	1,13005	2203	4300	6503	132898093	SO:0001583	missense	131034	exon5			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.490C>T	3.37:g.131415403G>A	ENSP00000421705:p.Arg164Trp		132898093	NM_130808	D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066590	0.76301	2.27E-4	0.0	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818;ENST00000505881	T;T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58;1.45	5.61	4.68	0.58851	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.213702	0.45126	D	0.000382	D	0.83672	0.5305	M	0.90198	3.095	0.58432	D	0.999998	D;D	0.67145	0.996;0.992	P;P	0.56612	0.802;0.788	D	0.87329	0.2323	10	0.72032	D	0.01	-18.7718	15.3146	0.74065	0.0:0.0:0.8596:0.1404	.	182;164	Q96A23-2;Q96A23	.;CPNE4_HUMAN	W	164;164;182;164;182;164	ENSP00000421705:R164W;ENSP00000411904:R164W;ENSP00000424853:R182W;ENSP00000423811:R164W;ENSP00000421646:R182W;ENSP00000425506:R164W	ENSP00000411904:R164W	R	-	1	2	CPNE4	132898093	1.000000	0.71417	0.983000	0.44433	0.877000	0.50540	2.679000	0.46909	2.646000	0.89796	0.655000	0.94253	CGG		0.403	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808	
ANAPC5	51433	broad.mit.edu	37	12	121789949	121789949	+	Silent	SNP	C	C	T			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr12:121789949C>T	ENST00000261819.3	-	1	316	c.195G>A	c.(193-195)ctG>ctA	p.L65L	ANAPC5_ENST00000541887.1_Silent_p.L65L	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	65					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.L65L(1)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCAGCAGGGGCAGGAGCAGCT	0.647																																					p.L65L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G195A	12						.						29.0	29.0	29.0					12																	121789949		2201	4295	6496	120274332	SO:0001819	synonymous_variant	51433	exon1			AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.195G>A	12.37:g.121789949C>T			120274332	NM_016237	E9PFB2|Q8N4H7|Q9BQD4	Silent	SNP	ENST00000261819.3	37	CCDS9220.1																																																																																				0.647	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1		
SLC2A3	6515	broad.mit.edu	37	12	8083194	8083194	+	Silent	SNP	C	C	T			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr12:8083194C>T	ENST00000075120.7	-	5	795	c.555G>A	c.(553-555)ccG>ccA	p.P185P		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	185					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)	p.P185P(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CCAGTAGCAGCGGCCATAGCT	0.443																																					p.P185P	Colon(96;424 1461 14416 20933 23688)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G555A	12						.						104.0	101.0	102.0					12																	8083194		2203	4300	6503	7974461	SO:0001819	synonymous_variant	6515	exon5			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.555G>A	12.37:g.8083194C>T			7974461	NM_006931	B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	ENST00000075120.7	37	CCDS8586.1																																																																																				0.443	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931	
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-AG-A032-01	TCGA-AG-A032-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G12C	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,+1	.	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	c.G34T	12	GRCh37	CM076251	KRAS	M	rs121913530	.						93.0	83.0	86.0					12																	25398285		2203	4300	6503	25289552	SO:0001583	missense	3845	exon2	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	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys		25289552	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
SYT10	341359	broad.mit.edu	37	12	33579274	33579274	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr12:33579274G>C	ENST00000228567.3	-	2	604	c.308C>G	c.(307-309)gCt>gGt	p.A103G	SYT10_ENST00000535526.1_5'UTR|SYT10_ENST00000567656.1_5'Flank	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	103					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.A103G(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTCAGTAGGAGCACTTGAAAT	0.413																																					p.A103G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C308G	12						.						94.0	95.0	95.0					12																	33579274		2203	4300	6503	33470541	SO:0001583	missense	341359	exon2			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.308C>G	12.37:g.33579274G>C	ENSP00000228567:p.Ala103Gly		33470541	NM_198992	Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	G	7.367	0.625951	0.14257	.	.	ENSG00000110975	ENST00000228567	T	0.48836	0.8	4.1	4.1	0.47936	.	0.000000	0.41194	U	0.000940	T	0.33440	0.0863	N	0.25647	0.755	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.11941	-1.0567	10	0.08599	T	0.76	.	16.6077	0.84835	0.0:0.0:1.0:0.0	.	103	Q6XYQ8	SYT10_HUMAN	G	103	ENSP00000228567:A103G	ENSP00000228567:A103G	A	-	2	0	SYT10	33470541	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	6.568000	0.73987	2.572000	0.86782	0.655000	0.94253	GCT		0.413	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992	
ARID2	196528	broad.mit.edu	37	12	46211554	46211554	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr12:46211554G>T	ENST00000334344.6	+	5	692	c.520G>T	c.(520-522)Gac>Tac	p.D174Y	ARID2_ENST00000422737.1_Missense_Mutation_p.D25Y	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	174					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D174Y(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAATGAAGTGGACTTTGCTAT	0.373			"""N, S, F"""		hepatocellular carcinoma																																p.D174Y			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G520T	12						.						101.0	91.0	94.0					12																	46211554		2203	4300	6503	44497821	SO:0001583	missense	196528	exon5				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.520G>T	12.37:g.46211554G>T	ENSP00000335044:p.Asp174Tyr		44497821	NM_152641	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	CCDS31783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.757739|4.757739	0.89843|0.89843	.|.	.|.	ENSG00000189079|ENSG00000189079	ENST00000334344;ENST00000422737|ENST00000549153;ENST00000338636	T;T|.	0.51817|.	0.69;0.69|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78130|0.78130	0.4235|0.4235	M|M	0.74467|0.74467	2.265|2.265	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.80647|0.80647	-0.1289|-0.1289	10|6	0.87932|0.87932	D|D	0|0	-8.148|-8.148	19.1056|19.1056	0.93293|0.93293	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	174|.	Q68CP9|.	ARID2_HUMAN|.	Y|C	174;25|65	ENSP00000335044:D174Y;ENSP00000415650:D25Y|.	ENSP00000335044:D174Y|ENSP00000339739:W65C	D|W	+|+	1|3	0|0	ARID2|ARID2	44497821|44497821	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.864000|9.864000	0.99589|0.99589	2.499000|2.499000	0.84300|0.84300	0.555000|0.555000	0.69702|0.69702	GAC|TGG		0.373	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	
KRT73	319101	broad.mit.edu	37	12	53012206	53012206	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr12:53012206C>A	ENST00000305748.3	-	1	137	c.103G>T	c.(103-105)Ggg>Tgg	p.G35W		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	35	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.G35W(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTTTGCCCCCTGCTCGGTAG	0.647																																					p.G35W												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G103T	12						.						50.0	58.0	55.0					12																	53012206		2203	4300	6503	51298473	SO:0001583	missense	319101	exon1			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.103G>T	12.37:g.53012206C>A	ENSP00000307014:p.Gly35Trp		51298473	NM_175068	Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	C	10.10	1.258502	0.23051	.	.	ENSG00000186049	ENST00000305748	D	0.85629	-2.01	4.43	3.54	0.40534	.	0.240552	0.28778	N	0.014170	D	0.86163	0.5867	M	0.89840	3.065	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.78607	-0.2138	10	0.48119	T	0.1	.	9.5219	0.39140	0.0:0.8177:0.0:0.1823	.	35	Q86Y46	K2C73_HUMAN	W	35	ENSP00000307014:G35W	ENSP00000307014:G35W	G	-	1	0	KRT73	51298473	0.007000	0.16637	0.060000	0.19600	0.046000	0.14306	2.187000	0.42602	1.169000	0.42739	0.655000	0.94253	GGG		0.647	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068	
DCTN2	10540	broad.mit.edu	37	12	57927776	57927776	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A032-01	TCGA-AG-A032-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr12:57927776T>C	ENST00000548249.1	-	7	896	c.629A>G	c.(628-630)cAt>cGt	p.H210R	DCTN2_ENST00000543672.1_Missense_Mutation_p.H215R|DCTN2_ENST00000537439.1_Missense_Mutation_p.H187R|DCTN2_ENST00000434715.3_Missense_Mutation_p.H215R|DCTN2_ENST00000551400.1_5'Flank	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	210					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|vesicle (GO:0031982)	motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.H215R(2)		endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						AGGCCGAGAATGTAGTTCATA	0.507																																					p.T210T												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A630G	12						.						117.0	120.0	119.0					12																	57927776		1928	4123	6051	56214043	SO:0001583	missense	10540	exon7			U50733	CCDS44930.1, CCDS58245.1, CCDS73489.1	12q13.3	2008-05-14				ENSG00000175203			2712	protein-coding gene	gene with protein product		607376				8647893	Standard	NM_001261412		Approved	RBP50, DCTN-50	uc001som.2	Q13561	OTTHUMG00000170124	ENST00000548249.1:c.629A>G	12.37:g.57927776T>C	ENSP00000447824:p.His210Arg		56214043	NM_006400	B2RBK5|Q86YN2|Q9BW17	Missense_Mutation	SNP	ENST00000548249.1	37	CCDS58245.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.568378	0.86439	.	.	ENSG00000175203	ENST00000548249;ENST00000434715;ENST00000543672;ENST00000537439;ENST00000354743;ENST00000543105;ENST00000546758;ENST00000550954	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.64472	0.2601	L	0.60455	1.87	0.80722	D	1	D;D;D	0.55172	0.962;0.97;0.969	P;P;P	0.53954	0.67;0.738;0.666	T	0.61481	-0.7054	9	0.27082	T	0.32	-16.9276	14.5159	0.67818	0.0:0.0:0.0:1.0	.	210;215;210	F8WAG8;F5H2S7;Q13561	.;.;DCTN2_HUMAN	R	210;215;215;187;210;123;94;224	.	ENSP00000346785:H210R	H	-	2	0	DCTN2	56214043	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	5.547000	0.67249	2.326000	0.78906	0.533000	0.62120	CAT		0.507	DCTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407393.2	NM_006400	
EEA1	8411	broad.mit.edu	37	12	93213269	93213269	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr12:93213269G>C	ENST00000322349.8	-	14	1807	c.1543C>G	c.(1543-1545)Cta>Gta	p.L515V		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	515	Gln/Glu/Lys-rich.				early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)	p.L515V(1)		endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ATTTGACGTAGAACTTGTTCC	0.279																																					p.L515V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1543G	12						.						40.0	40.0	40.0					12																	93213269		2201	4300	6501	91737400	SO:0001583	missense	8411	exon14			L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.1543C>G	12.37:g.93213269G>C	ENSP00000317955:p.Leu515Val		91737400	NM_003566	Q14221	Missense_Mutation	SNP	ENST00000322349.8	37	CCDS31874.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.687787	0.48097	.	.	ENSG00000102189	ENST00000322349	T	0.77750	-1.12	5.55	2.67	0.31697	.	0.000000	0.41194	D	0.000940	T	0.78691	0.4323	L	0.36672	1.1	0.46927	D	0.999252	D	0.69078	0.997	D	0.72625	0.978	T	0.74572	-0.3621	10	0.30078	T	0.28	.	8.7735	0.34747	0.2916:0.0:0.7084:0.0	.	515	Q15075	EEA1_HUMAN	V	515	ENSP00000317955:L515V	ENSP00000317955:L515V	L	-	1	2	EEA1	91737400	0.982000	0.34865	0.997000	0.53966	0.960000	0.62799	1.717000	0.37991	1.327000	0.45338	0.460000	0.39030	CTA		0.279	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566	
KDM2B	84678	broad.mit.edu	37	12	121878754	121878754	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A032-01	TCGA-AG-A032-01	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr12:121878754A>C	ENST00000377071.4	-	21	3547	c.3475T>G	c.(3475-3477)Tgc>Ggc	p.C1159G	KDM2B_ENST00000542973.1_Missense_Mutation_p.C527G|KDM2B_ENST00000377069.4_Missense_Mutation_p.C1090G|KDM2B_ENST00000536437.1_Intron	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1159					embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ATCCATGAGCAGCCTGACAGC	0.632																																					p.C1159G												.	.	0			c.T3475G	12						.						34.0	41.0	39.0					12																	121878754		2117	4230	6347	120363137	SO:0001583	missense	84678	exon21			AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.3475T>G	12.37:g.121878754A>C	ENSP00000366271:p.Cys1159Gly		120363137	NM_032590	A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Missense_Mutation	SNP	ENST00000377071.4	37	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	A	33	5.258168	0.95368	.	.	ENSG00000089094	ENST00000397480;ENST00000542973;ENST00000377069;ENST00000377071;ENST00000540043;ENST00000261824	T;T;T	0.22945	1.93;1.93;1.93	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000019	T	0.63885	0.2549	H	0.94847	3.59	0.80722	D	1	P;D;D;P	0.76494	0.896;0.999;0.999;0.894	P;D;D;P	0.78314	0.607;0.991;0.991;0.489	T	0.74940	-0.3493	10	0.87932	D	0	-29.2592	16.6288	0.85011	1.0:0.0:0.0:0.0	.	599;1159;1090;602	B7ZB05;Q8NHM5;A8MRS1;B4DSN4	.;KDM2B_HUMAN;.;.	G	1147;527;1090;1159;602;1162	ENSP00000437821:C527G;ENSP00000366269:C1090G;ENSP00000366271:C1159G	ENSP00000261824:C1162G	C	-	1	0	KDM2B	120363137	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.268000	0.95675	2.326000	0.78906	0.533000	0.62120	TGC		0.632	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590	
MESDC2	23184	broad.mit.edu	37	15	81274364	81274364	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A032-01	TCGA-AG-A032-01	T	T					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr15:81274364T>C	ENST00000261758.4	-	2	459	c.373A>G	c.(373-375)Act>Gct	p.T125A		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	125	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)		p.T125A(1)		cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						TCCTTCTCAGTAGGGCTTCCT	0.463																																					p.T125A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A373G	15						.						139.0	118.0	125.0					15																	81274364		2203	4300	6503	79061419	SO:0001583	missense	23184	exon2			D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.373A>G	15.37:g.81274364T>C	ENSP00000261758:p.Thr125Ala		79061419	NM_015154	B4DW84|D3DW96|Q969U1	Missense_Mutation	SNP	ENST00000261758.4	37	CCDS32308.1	.	.	.	.	.	.	.	.	.	.	T	19.62	3.861125	0.71949	.	.	ENSG00000117899	ENST00000261758	.	.	.	5.13	5.13	0.70059	.	0.104629	0.64402	D	0.000004	T	0.66665	0.2812	M	0.61703	1.905	0.80722	D	1	P	0.47409	0.895	P	0.51974	0.686	T	0.71045	-0.4706	9	0.72032	D	0.01	-1.7563	14.9677	0.71208	0.0:0.0:0.0:1.0	.	125	Q14696	MESD_HUMAN	A	125	.	ENSP00000261758:T125A	T	-	1	0	MESDC2	79061419	1.000000	0.71417	0.932000	0.37286	0.541000	0.35023	5.935000	0.70145	1.932000	0.55993	0.533000	0.62120	ACT		0.463	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154	
CHD2	1106	broad.mit.edu	37	15	93567803	93567804	+	Missense_Mutation	DNP	AG	AG	TT			TCGA-AG-A032-01	TCGA-AG-A032-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr15:93567803_93567804AG>TT	ENST00000394196.4	+	39	6423_6424	c.5355_5356AG>TT	c.(5353-5358)tcAGat>tcTTat	p.D1786Y		NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1786					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CTGCAGTCTCAGATCCTCGCTC	0.515																																					.												.	.	0			c.5355_5356TT	15						.																																			91368808	SO:0001583	missense	1106	exon39			AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	Exception_encountered	15.37:g.93567803_93567804delinsTT	ENSP00000377747:p.Asp1786Tyr		91368807	NM_001271	C6G482|Q96IP5	Missense_Mutation	DNP	ENST00000394196.4	37	CCDS10374.2																																																																																				0.515	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	
MTTP	4547	broad.mit.edu	37	4	100532311	100532311	+	Missense_Mutation	SNP	G	G	A	rs201863511		TCGA-AG-A032-01	TCGA-AG-A032-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr4:100532311G>A	ENST00000265517.5	+	13	1984	c.1781G>A	c.(1780-1782)cGt>cAt	p.R594H	MTTP_ENST00000457717.1_Missense_Mutation_p.R594H|MTTP_ENST00000511045.1_Missense_Mutation_p.R621H|RP11-766F14.1_ENST00000508578.1_RNA			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	594	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)	p.R594H(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	AAAATTGTCCGTCGAGTTCTG	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17440	0.0		0.0	False		,,,				2504	0.0				p.R594H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1781A	4						.						143.0	133.0	136.0					4																	100532311		2203	4300	6503	100751334	SO:0001583	missense	4547	exon14				CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1781G>A	4.37:g.100532311G>A	ENSP00000265517:p.Arg594His		100751334	NM_000253	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.27	2.484374	0.44147	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.70986	-0.53;-0.53;-0.53	5.84	5.0	0.66597	Lipid transport protein, N-terminal (1);Vitellinogen, superhelical (2);	0.154327	0.64402	N	0.000012	T	0.65565	0.2703	L	0.46157	1.445	0.49299	D	0.999773	B;B	0.22003	0.063;0.019	B;B	0.17098	0.017;0.006	T	0.63906	-0.6531	10	0.62326	D	0.03	-0.3192	14.9731	0.71249	0.0681:0.0:0.9319:0.0	.	621;594	E9PBP6;P55157	.;MTP_HUMAN	H	621;594;594	ENSP00000427679:R621H;ENSP00000400821:R594H;ENSP00000265517:R594H	ENSP00000265517:R594H	R	+	2	0	MTTP	100751334	1.000000	0.71417	0.961000	0.40146	0.600000	0.36913	4.296000	0.59055	1.485000	0.48380	0.655000	0.94253	CGT		0.398	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3		
ANK2	287	broad.mit.edu	37	4	114288823	114288823	+	Missense_Mutation	SNP	G	G	A	rs146476345		TCGA-AG-A032-01	TCGA-AG-A032-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr4:114288823G>A	ENST00000357077.4	+	42	11187	c.11134G>A	c.(11134-11136)Gtc>Atc	p.V3712I	ANK2_ENST00000394537.3_Missense_Mutation_p.V1627I|ANK2_ENST00000506722.1_Missense_Mutation_p.V1618I|ANK2_ENST00000509550.1_Missense_Mutation_p.V803I|ANK2_ENST00000510275.2_Missense_Mutation_p.V279I|ANK2_ENST00000264366.6_Missense_Mutation_p.V3679I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3712					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.V3712I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCCTCCTATCGTCTCAGAGGA	0.488																																					p.V1627I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4879A	4						.	G	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	91.0	87.0	88.0		4852,11134,4879	5.6	0.9	4	dbSNP_134	88	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1618/1864,3712/3958,1627/1873	114288823	1,13005	2203	4300	6503	114508272	SO:0001583	missense	287	exon41			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.11134G>A	4.37:g.114288823G>A	ENSP00000349588:p.Val3712Ile		114508272	NM_020977	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.607706|4.607706	0.87157|0.87157	0.0|0.0	1.16E-4|1.16E-4	ENSG00000145362|ENSG00000145362	ENST00000514960|ENST00000506722;ENST00000431447;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550;ENST00000510275;ENST00000505342	.|T;T;T;T;T;D;D	.|0.97089	.|-0.62;-0.6;-0.68;-0.68;-1.32;-2.27;-4.24	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.49305	.|D	.|0.000151	D|D	0.98213|0.98213	0.9409|0.9409	M|M	0.71036|0.71036	2.16|2.16	0.48901|0.48901	D|D	0.999726|0.999726	.|D;D;D;B;D;D	.|0.89917	.|0.994;0.998;0.987;0.037;1.0;0.965	.|P;P;B;B;D;P	.|0.83275	.|0.539;0.803;0.403;0.014;0.996;0.746	D|D	0.97760|0.97760	1.0220|1.0220	5|10	.|0.34782	.|T	.|0.22	.|.	19.6501|19.6501	0.95796|0.95796	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|803;662;628;1627;3712;1618	.|E9PCH6;F8W694;Q7Z344;Q01484-2;Q01484-4;Q01484-5	.|.;.;.;.;.;.	H|I	628|1618;662;1627;3712;3679;1618;803;279;722	.|ENSP00000421067:V1618I;ENSP00000378044:V1627I;ENSP00000349588:V3712I;ENSP00000264366:V3679I;ENSP00000426944:V803I;ENSP00000421023:V279I;ENSP00000422498:V722I	.|ENSP00000264366:V3679I	R|V	+|+	2|1	0|0	ANK2|ANK2	114508272|114508272	1.000000|1.000000	0.71417|0.71417	0.901000|0.901000	0.35422|0.35422	0.739000|0.739000	0.42172|0.42172	7.562000|7.562000	0.82300|0.82300	2.651000|2.651000	0.90000|0.90000	0.491000|0.491000	0.48974|0.48974	CGT|GTC		0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
PRSS48	345062	broad.mit.edu	37	4	152198326	152198326	+	Start_Codon_SNP	SNP	T	T	C			TCGA-AG-A032-01	TCGA-AG-A032-01	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr4:152198326T>C	ENST00000455694.2	+	1	4	c.2T>C	c.(1-3)aTg>aCg	p.M1T	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Start_Codon_SNP_p.M1T	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	1						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.M1T(1)		kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GACAGAGACATGGGCCCTGCT	0.587											OREG0016361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.M1T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2C	4						.						40.0	48.0	45.0					4																	152198326		2159	4282	6441	152417776	SO:0001582	initiator_codon_variant	345062	exon1			BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.2T>C	4.37:g.152198326T>C	ENSP00000401328:p.Met1Thr	1746	152417776	NM_183375	Q08E82|Q0VAD4	Missense_Mutation	SNP	ENST00000455694.2	37	CCDS47145.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.449500	0.43531	.	.	ENSG00000189099	ENST00000455694;ENST00000441586	D;D	0.91124	-2.33;-2.79	3.88	2.69	0.31865	.	0.000000	0.41823	D	0.000818	D	0.84701	0.5530	.	.	.	0.80722	D	1	B;B	0.22909	0.077;0.046	B;B	0.18263	0.021;0.011	T	0.80256	-0.1458	9	0.87932	D	0	.	6.1102	0.20096	0.0:0.1152:0.0:0.8848	.	1;1	Q7RTY5-3;Q7RTY5	.;PRS48_HUMAN	T	1	ENSP00000401328:M1T;ENSP00000401420:M1T	ENSP00000401420:M1T	M	+	2	0	PRSS48	152417776	0.997000	0.39634	0.482000	0.27366	0.016000	0.09150	1.551000	0.36233	0.837000	0.34925	0.528000	0.53228	ATG		0.587	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365685.3	NM_183375	Missense_Mutation
DCHS2	54798	broad.mit.edu	37	4	155241580	155241580	+	Silent	SNP	G	G	A			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr4:155241580G>A	ENST00000357232.4	-	14	3605	c.3606C>T	c.(3604-3606)agC>agT	p.S1202S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1202	Cadherin 10. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1202S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTGAGAGGATGCTGTATGTTA	0.408																																					p.S1202S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3606T	4						.						197.0	179.0	185.0					4																	155241580		2203	4300	6503	155461030	SO:0001819	synonymous_variant	54798	exon14			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3606C>T	4.37:g.155241580G>A			155461030	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	ENST00000357232.4	37	CCDS3785.1																																																																																				0.408	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
LPHN3	23284	broad.mit.edu	37	4	62778452	62778452	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr4:62778452C>T	ENST00000514591.1	+	12	2214	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C	LPHN3_ENST00000511324.1_Missense_Mutation_p.R697C|LPHN3_ENST00000514996.1_Missense_Mutation_p.R629C|LPHN3_ENST00000504896.1_Missense_Mutation_p.R629C|LPHN3_ENST00000508946.1_Missense_Mutation_p.R629C|LPHN3_ENST00000506720.1_Missense_Mutation_p.R697C|LPHN3_ENST00000507625.1_Missense_Mutation_p.R697C|LPHN3_ENST00000506746.1_Missense_Mutation_p.R697C|LPHN3_ENST00000512091.2_Missense_Mutation_p.R629C|LPHN3_ENST00000509896.1_Missense_Mutation_p.R697C|LPHN3_ENST00000507164.1_Missense_Mutation_p.R697C|LPHN3_ENST00000508693.1_Missense_Mutation_p.R697C|LPHN3_ENST00000506700.1_Missense_Mutation_p.R629C|LPHN3_ENST00000545650.1_Missense_Mutation_p.R629C|LPHN3_ENST00000514157.1_Missense_Mutation_p.R629C			Q9HAR2	LPHN3_HUMAN	latrophilin 3	623					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.R629C(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GAAAAGAGAGCGCTCTTGCAG	0.363																																					p.R629C												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C1885T	4						.						173.0	155.0	161.0					4																	62778452		1835	4095	5930	62461047	SO:0001583	missense	23284	exon10			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1885C>T	4.37:g.62778452C>T	ENSP00000422533:p.Arg629Cys		62461047	NM_015236	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944410	0.73672	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.71341	-0.53;-0.52;-0.54;-0.54;-0.53;-0.52;-0.54;-0.54;-0.53;-0.53;-0.53;-0.55;-0.56;-0.55;-0.54	5.63	5.63	0.86233	.	.	.	.	.	T	0.82235	0.4993	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.933	D	0.83369	0.0006	9	0.87932	D	0	.	18.655	0.91450	0.0:1.0:0.0:0.0	.	629;629	E9PE04;Q9HAR2-2	.;.	C	629;629;697;697;629;629;629;697;697;697;629;629;629;697;697;629	ENSP00000423388:R629C;ENSP00000422533:R629C;ENSP00000423787:R697C;ENSP00000425033:R697C;ENSP00000424120:R629C;ENSP00000439831:R629C;ENSP00000421476:R697C;ENSP00000424030:R697C;ENSP00000421372:R697C;ENSP00000425201:R629C;ENSP00000423434:R629C;ENSP00000421627:R629C;ENSP00000420931:R697C;ENSP00000425884:R697C;ENSP00000424258:R629C	ENSP00000280009:R629C	R	+	1	0	LPHN3	62461047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.047000	0.76599	2.645000	0.89757	0.561000	0.74099	CGC		0.363	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
THAP9	79725	broad.mit.edu	37	4	83838792	83838792	+	Missense_Mutation	SNP	A	A	C			TCGA-AG-A032-01	TCGA-AG-A032-01	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr4:83838792A>C	ENST00000302236.5	+	5	1478	c.1427A>C	c.(1426-1428)aAt>aCt	p.N476T	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	476					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.N476T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				CTGAAAGTGAATAGTGCCACC	0.388																																					p.N476T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1427C	4						.						123.0	129.0	127.0					4																	83838792		2203	4300	6503	84057816	SO:0001583	missense	79725	exon5			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1427A>C	4.37:g.83838792A>C	ENSP00000305533:p.Asn476Thr		84057816	NM_024672	B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	A	10.03	1.239745	0.22711	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.90261	-2.64	3.87	3.87	0.44632	.	0.000000	0.51477	D	0.000084	D	0.92685	0.7675	L	0.54323	1.7	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	D	0.91482	0.5205	10	0.38643	T	0.18	-29.6152	11.3618	0.49648	1.0:0.0:0.0:0.0	.	476	Q9H5L6	THAP9_HUMAN	T	476	ENSP00000305533:N476T	ENSP00000305533:N476T	N	+	2	0	THAP9	84057816	0.999000	0.42202	0.623000	0.29173	0.009000	0.06853	5.498000	0.66931	1.983000	0.57843	0.533000	0.62120	AAT		0.388	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672	
GUCY1A3	2982	broad.mit.edu	37	4	156631752	156631752	+	Silent	SNP	C	C	T			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr4:156631752C>T	ENST00000296518.7	+	6	644	c.435C>T	c.(433-435)taC>taT	p.Y145Y	GUCY1A3_ENST00000511507.1_Silent_p.Y145Y|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511108.1_Silent_p.Y145Y|GUCY1A3_ENST00000455639.2_Silent_p.Y145Y|GUCY1A3_ENST00000506455.1_Silent_p.Y145Y|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000513574.1_Silent_p.Y145Y			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	145					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)	p.Y145Y(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		AAATATGTTACGAGGAAGATG	0.398																																					p.Y145Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C435T	4						.						71.0	78.0	76.0					4																	156631752		2203	4300	6503	156851202	SO:0001819	synonymous_variant	2982	exon6				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.435C>T	4.37:g.156631752C>T			156851202	NM_001130682	D3DP19|D6RDW3|O43843|Q8TAH3	De_novo_Start_OutOfFrame	SNP	ENST00000296518.7	37	CCDS34085.1																																																																																				0.398	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
DMD	1756	broad.mit.edu	37	X	32360315	32360315	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chrX:32360315C>T	ENST00000357033.4	-	41	6030	c.5824G>A	c.(5824-5826)Gca>Aca	p.A1942T	DMD_ENST00000378677.2_Missense_Mutation_p.A1938T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1942					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.A601T(1)|p.A1938T(1)|p.A1937T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTGCCATTGCGGCCCCATCC	0.493																																					p.A601T												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G1801A	X						.						102.0	71.0	81.0					X																	32360315		2202	4300	6502	32270236	SO:0001583	missense	1756	exon13			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5824G>A	X.37:g.32360315C>T	ENSP00000354923:p.Ala1942Thr		32270236	NM_004011	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	10.68	1.418223	0.25552	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.53206	0.63;0.63	5.76	3.91	0.45181	.	0.000000	0.36778	U	0.002420	T	0.28962	0.0719	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B	0.28419	0.176;0.211;0.211;0.094;0.094	B;B;B;B;B	0.21708	0.021;0.036;0.036;0.025;0.015	T	0.05886	-1.0858	10	0.14656	T	0.56	.	12.1216	0.53895	0.1349:0.7384:0.1267:0.0	.	1934;1942;1938;601;598	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	T	1934;601;598;1938;1942;1942;1819	ENSP00000367948:A1938T;ENSP00000354923:A1942T	ENSP00000354923:A1942T	A	-	1	0	DMD	32270236	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	3.142000	0.50601	1.163000	0.42636	-0.237000	0.12165	GCA		0.493	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
DACH2	117154	broad.mit.edu	37	X	86069705	86069705	+	Missense_Mutation	SNP	C	C	T	rs146920220		TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chrX:86069705C>T	ENST00000373125.4	+	10	1552	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	DACH2_ENST00000508860.1_Missense_Mutation_p.R351C|DACH2_ENST00000510272.1_Missense_Mutation_p.R299C|DACH2_ENST00000373131.1_Missense_Mutation_p.R505C	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	518	DACHbox-C.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R518C(1)|p.R505C(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TATGCAAAAGCGCCTGAAGAA	0.413																																					p.R518C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1552T	X						.	C	CYS/ARG,CYS/ARG,CYS/ARG	1,3834		0,1,1631,571	51.0	49.0	50.0		1513,1051,1552	4.8	1.0	X	dbSNP_134	50	0,6728		0,0,2428,1872	no	missense,missense,missense	DACH2	NM_001139514.1,NM_001139515.1,NM_053281.3	180,180,180	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging,probably-damaging,probably-damaging	505/572,351/433,518/600	86069705	1,10562	2203	4300	6503	85956361	SO:0001583	missense	117154	exon10			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1552C>T	X.37:g.86069705C>T	ENSP00000362217:p.Arg518Cys		85956361	NM_053281	B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230699	0.79688	2.61E-4	0.0	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.89746	-2.52;-2.56	4.76	4.76	0.60689	.	0.000000	0.64402	D	0.000003	D	0.94128	0.8117	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.997;0.997	D	0.95005	0.8146	10	0.87932	D	0	.	17.002	0.86383	0.0:1.0:0.0:0.0	.	384;518;505;518	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	C	518;505;518;351;299;351;183	ENSP00000362223:R505C;ENSP00000362217:R518C	ENSP00000345134:R518C	R	+	1	0	DACH2	85956361	1.000000	0.71417	0.995000	0.50966	0.869000	0.49853	7.370000	0.79589	1.932000	0.55993	0.415000	0.27848	CGC		0.413	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281	
UBE2NL	389898	broad.mit.edu	37	X	142967509	142967509	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chrX:142967509C>T	ENST00000370494.1	+	1	337	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like (gene/pseudogene)	103						extracellular vesicular exosome (GO:0070062)	acid-amino acid ligase activity (GO:0016881)	p.R103C(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCAGATCCGCACAGTTCT	0.423																																					p.R103C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C307T	X						.						108.0	94.0	99.0					X																	142967509		2203	4300	6503	142795175	SO:0001583	missense	389898	exon1					Xq27.3	2014-06-11	2014-06-11		ENSG00000102069			"""Ubiquitin-conjugating enzymes E2"""	31710	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2N-like"""			20736409	Standard	NM_001012989		Approved		uc004fca.3	Q5JXB2	OTTHUMG00000022586	ENST00000370494.1:c.307C>T	X.37:g.142967509C>T	ENSP00000359525:p.Arg103Cys		142795175	NM_001012989	E9KL27	Missense_Mutation	SNP	ENST00000370494.1	37	CCDS35420.1	.	.	.	.	.	.	.	.	.	.	C	3.542	-0.093443	0.07053	.	.	ENSG00000102069	ENST00000370494	T	0.39056	1.1	1.16	-0.908	0.10517	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.265427	0.19850	U	0.104652	T	0.49762	0.1576	M	0.92412	3.305	0.80722	D	1	P	0.35612	0.512	B	0.41466	0.358	T	0.44726	-0.9309	10	0.66056	D	0.02	11.1641	3.4429	0.07470	0.2395:0.5766:0.0:0.1839	.	103	Q5JXB2	UE2NL_HUMAN	C	103	ENSP00000359525:R103C	ENSP00000359525:R103C	R	+	1	0	UBE2NL	142795175	1.000000	0.71417	0.995000	0.50966	0.036000	0.12997	3.460000	0.53028	-0.490000	0.06707	-1.274000	0.01402	CGC		0.423	UBE2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058624.1	NM_001012989	
PLEKHA3	65977	broad.mit.edu	37	2	179355479	179355479	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr2:179355479G>A	ENST00000234453.5	+	3	653	c.251G>A	c.(250-252)tGg>tAg	p.W84*	PLEKHA3_ENST00000461474.1_3'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	84	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)	p.W84*(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AGACAGAGGTGGCTGGTCGCT	0.418																																					p.W84X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.G251A	2						.						58.0	58.0	58.0					2																	179355479		2203	4300	6503	179063725	SO:0001587	stop_gained	65977	exon3			AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.251G>A	2.37:g.179355479G>A	ENSP00000234453:p.Trp84*		179063725	NM_019091	Q4ZG69|Q86TQ1|Q9NXT3	Nonsense_Mutation	SNP	ENST00000234453.5	37	CCDS33336.1	.	.	.	.	.	.	.	.	.	.	G	39	7.430874	0.98279	.	.	ENSG00000116095	ENST00000234453	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0387	19.8265	0.96619	0.0:0.0:1.0:0.0	.	.	.	.	X	84	.	ENSP00000234453:W84X	W	+	2	0	PLEKHA3	179063725	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.672000	0.90937	0.563000	0.77884	TGG		0.418	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091	
TTN	7273	broad.mit.edu	37	2	179509334	179509334	+	Missense_Mutation	SNP	T	T	G			TCGA-AG-A032-01	TCGA-AG-A032-01	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr2:179509334T>G	ENST00000591111.1	-	168	35719	c.35495A>C	c.(35494-35496)aAg>aCg	p.K11832T	TTN_ENST00000342992.6_Missense_Mutation_p.K10905T|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.K13473T|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|RP11-171I2.3_ENST00000605021.1_lincRNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	11832	Glu-rich.|Pro-rich.				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.K10905T(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)			AACTTTCTTCTTTGGAATAGC	0.328																																					p.K10905T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A32714C	2						.						94.0	83.0	86.0					2																	179509334		1796	4061	5857	179217579	SO:0001583	missense	7273	exon167			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.35495A>C	2.37:g.179509334T>G	ENSP00000465570:p.Lys11832Thr		179217579	NM_133378	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		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.27|12.27	1.888189|1.888189	0.33348|0.33348	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000426232|ENST00000342992;ENST00000429997;ENST00000446966;ENST00000434777	.|T	.|0.67523	.|-0.27	5.68|5.68	1.96|1.96	0.26148|0.26148	.|Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.|.	.|.	.|.	.|.	T|T	0.58250|0.58250	0.2109|0.2109	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|B;P	.|0.46706	.|0.18;0.883	.|B;P	.|0.46629	.|0.193;0.522	T|T	0.56529|0.56529	-0.7964|-0.7964	5|9	.|0.87932	.|D	.|0	.|.	8.877|8.877	0.35352|0.35352	0.0:0.3123:0.0:0.6877|0.0:0.3123:0.0:0.6877	.|.	.|11832;312	.|Q8WZ42;A2TKE4	.|TITIN_HUMAN;.	N|T	179|10905;312;312;132	.|ENSP00000343764:K10905T	.|ENSP00000343764:K10905T	K|K	-|-	3|2	2|0	TTN|TTN	179217579|179217579	0.997000|0.997000	0.39634|0.39634	0.980000|0.980000	0.43619|0.43619	0.913000|0.913000	0.54294|0.54294	0.416000|0.416000	0.21198|0.21198	0.156000|0.156000	0.19299|0.19299	-0.353000|-0.353000	0.07706|0.07706	AAA|AAG		0.328	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179604087	179604087	+	Missense_Mutation	SNP	G	G	T			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr2:179604087G>T	ENST00000591111.1	-	46	13146	c.12922C>A	c.(12922-12924)Ctc>Atc	p.L4308I	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L4262I|TTN_ENST00000589042.1_Missense_Mutation_p.L4625I|TTN_ENST00000359218.5_Missense_Mutation_p.L4387I|TTN_ENST00000342175.6_Missense_Mutation_p.L4454I|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12071	Ig-like 23.				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.L4262I(1)|p.L4454I(1)|p.L4387I(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)			GATGTTGTGAGGTGTACAATA	0.388																																					p.L4262I												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.C12784A	2						.						149.0	133.0	138.0					2																	179604087		1917	4138	6055	179312332	SO:0001583	missense	7273	exon45			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.12922C>A	2.37:g.179604087G>T	ENSP00000465570:p.Leu4308Ile		179312332	NM_003319	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		.	.	.	.	.	.	.	.	.	.	G	9.998	1.232593	0.22626	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.74421	-0.84;-0.84;-0.84	5.93	1.62	0.23740	.	.	.	.	.	T	0.75997	0.3926	M	0.82132	2.575	0.09310	N	1	B;B;B	0.25351	0.124;0.124;0.124	B;B;B	0.31614	0.074;0.074;0.133	T	0.69840	-0.5036	9	0.87932	D	0	.	10.859	0.46815	0.3436:0.0:0.6564:0.0	.	4262;4387;4454	D3DPF9;E7EQE6;E7ET18	.;.;.	I	4262;4454;4387;4262	ENSP00000434586:L4262I;ENSP00000340554:L4454I;ENSP00000352154:L4387I	ENSP00000340554:L4454I	L	-	1	0	TTN	179312332	0.843000	0.29541	0.037000	0.18230	0.943000	0.58893	1.423000	0.34837	0.417000	0.25871	0.655000	0.94253	CTC		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CXCR2	3579	broad.mit.edu	37	2	218999857	218999857	+	Silent	SNP	C	C	A			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr2:218999857C>A	ENST00000318507.2	+	3	760	c.333C>A	c.(331-333)ggC>ggA	p.G111G		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	111					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	C-X-C chemokine receptor activity (GO:0016494)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)|signal transducer activity (GO:0004871)	p.G111G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						AGGTGAATGGCTGGATTTTTG	0.557																																					p.G111G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C333A	2						.						107.0	101.0	103.0					2																	218999857		2203	4297	6500	218708102	SO:0001819	synonymous_variant	3579	exon3			U11869	CCDS2408.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000180871	ENSG00000180871		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6027	protein-coding gene	gene with protein product		146928	"""interleukin 8 receptor, beta"""	IL8RB		1427896	Standard	NM_001557		Approved	CMKAR2, CD182	uc002vha.2	P25025	OTTHUMG00000133107	ENST00000318507.2:c.333C>A	2.37:g.218999857C>A			218708102	NM_001557	Q8IUZ1|Q9P2T6|Q9P2T7	Silent	SNP	ENST00000318507.2	37	CCDS2408.1																																																																																				0.557	CXCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256772.2	NM_001557	
KANK1	23189	broad.mit.edu	37	9	738319	738319	+	Missense_Mutation	SNP	T	T	C			TCGA-AG-A032-01	TCGA-AG-A032-01	T	T	T	T	T	T	Unknown	Wildtype	None	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr9:738319T>C	ENST00000382303.1	+	12	4020	c.3368T>C	c.(3367-3369)tTc>tCc	p.F1123S	KANK1_ENST00000382293.3_Missense_Mutation_p.F965S|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.F1123S	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1123					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CACGAGTGGTTCCGCGTGTCC	0.498																																					p.F965S												.	.	0			c.T2894C	9						.						94.0	67.0	77.0					9																	738319		2203	4300	6503	728319	SO:0001583	missense	23189	exon7			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3368T>C	9.37:g.738319T>C	ENSP00000371740:p.Phe1123Ser		728319	NM_153186	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.687306	0.88639	.	.	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293;ENST00000382289;ENST00000382286	T;T;T	0.51817	0.69;0.69;0.72	5.73	4.57	0.56435	.	0.000000	0.53938	D	0.000057	T	0.71247	0.3317	M	0.86953	2.85	0.80722	D	1	D;D;D	0.89917	0.995;0.999;1.0	D;D;D	0.83275	0.972;0.996;0.988	T	0.75997	-0.3120	10	0.87932	D	0	0.0179	12.3487	0.55136	0.1266:0.0:0.0:0.8734	.	169;35;1123	F5H7I5;Q5W0W2;Q14678	.;.;KANK1_HUMAN	S	1123;169;1123;965;101;35	ENSP00000371740:F1123S;ENSP00000371734:F1123S;ENSP00000371730:F965S	ENSP00000371723:F35S	F	+	2	0	KANK1	728319	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.559000	0.82265	1.057000	0.40506	0.455000	0.32223	TTC		0.498	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158	
NFX1	4799	broad.mit.edu	37	9	33311154	33311154	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr9:33311154C>A	ENST00000379540.3	+	6	1489	c.1427C>A	c.(1426-1428)aCa>aAa	p.T476K	NFX1_ENST00000379521.4_Missense_Mutation_p.T476K|NFX1_ENST00000318524.6_Missense_Mutation_p.T476K	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	476					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.T476K(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		ATGACAAAAACATGTGAATGT	0.418																																					p.T476K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1427A	9						.						149.0	145.0	146.0					9																	33311154		2203	4300	6503	33301154	SO:0001583	missense	4799	exon6			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.1427C>A	9.37:g.33311154C>A	ENSP00000368856:p.Thr476Lys		33301154	NM_147134	A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	ENST00000379540.3	37	CCDS6538.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067052	0.36470	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.31769	1.48;1.48;1.48	5.56	5.56	0.83823	.	0.237466	0.43416	D	0.000568	T	0.22781	0.0550	N	0.20685	0.6	0.41867	D	0.990256	B;B;B;B;B	0.19331	0.035;0.021;0.0;0.004;0.001	B;B;B;B;B	0.20184	0.028;0.007;0.001;0.009;0.007	T	0.04885	-1.0920	10	0.23891	T	0.37	.	17.094	0.86630	0.0:1.0:0.0:0.0	.	476;360;476;476;476	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	K	476	ENSP00000368856:T476K;ENSP00000368836:T476K;ENSP00000317695:T476K	ENSP00000317695:T476K	T	+	2	0	NFX1	33301154	0.970000	0.33590	0.913000	0.36048	0.907000	0.53573	2.992000	0.49417	2.629000	0.89072	0.644000	0.83932	ACA		0.418	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052069.1		
CCDC180	100499483	broad.mit.edu	37	9	100122345	100122346	+	Missense_Mutation	DNP	AG	AG	CT			TCGA-AG-A032-01	TCGA-AG-A032-01							Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr9:100122345_100122346AG>CT	ENST00000357054.1	+	37	4425_4426	c.3490_3491AG>CT	c.(3490-3492)AGc>CTc	p.S1164L	CCDC180_ENST00000375202.2_Missense_Mutation_p.S1193L|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.S1193L			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1164						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.S1164>?(1)									CCTTAACTGCAGCCTGGACAGG	0.525																																					.												.	.	1	Complex(1)	large_intestine(1)	c.3577_3578CT	9						.																																			99162167	SO:0001583	missense	57653	exon26			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	Exception_encountered	9.37:g.100122345_100122346delinsCT	ENSP00000349562:p.Ser1164Leu		99162166	NM_020893	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	DNP	ENST00000357054.1	37																																																																																					0.525	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893	
SVEP1	79987	broad.mit.edu	37	9	113191540	113191540	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr9:113191540G>A	ENST00000401783.2	-	35	6026	c.5690C>T	c.(5689-5691)cCt>cTt	p.P1897L	SVEP1_ENST00000374469.1_Missense_Mutation_p.P1874L|SVEP1_ENST00000297826.5_5'Flank	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1897	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.P1900L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACACACAGGAGGGGAATGACT	0.378																																					p.P1897L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5690T	9						.						44.0	42.0	43.0					9																	113191540		1846	4095	5941	112231361	SO:0001583	missense	79987	exon35			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5690C>T	9.37:g.113191540G>A	ENSP00000384917:p.Pro1897Leu		112231361	NM_153366	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	3.303	-0.142446	0.06669	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	T;T	0.62639	0.01;0.01	5.17	4.24	0.50183	Complement control module (2);Sushi/SCR/CCP (3);	0.216381	0.49305	N	0.000153	T	0.45518	0.1346	N	0.26130	0.795	0.80722	D	1	B	0.13594	0.008	B	0.13407	0.009	T	0.29912	-0.9996	10	0.23302	T	0.38	.	9.6195	0.39712	0.1655:0.0:0.8344:0.0	.	1897	Q4LDE5	SVEP1_HUMAN	L	1897;1874	ENSP00000384917:P1897L;ENSP00000363593:P1874L	ENSP00000363593:P1874L	P	-	2	0	SVEP1	112231361	0.994000	0.37717	0.988000	0.46212	0.714000	0.41099	2.102000	0.41796	1.243000	0.43853	0.650000	0.86243	CCT		0.378	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
FAM178A	55719	broad.mit.edu	37	10	102707604	102707604	+	Splice_Site	SNP	G	G	T			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr10:102707604G>T	ENST00000238961.4	+	15	3662	c.3120G>T	c.(3118-3120)caG>caT	p.Q1040H	FAM178A_ENST00000370269.3_Splice_Site_p.Q1040H	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	1040						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.Q1040H(1)									GTAATCTGCAGGtataaataa	0.373																																					p.Q1040H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3120T	10						.						54.0	59.0	58.0					10																	102707604		2202	4299	6501	102697594	SO:0001630	splice_region_variant	55719	exon15			AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.3120+1G>T	10.37:g.102707604G>T			102697594	NM_018121	A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Missense_Mutation	SNP	ENST00000238961.4	37	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854388	0.71719	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	T;T	0.39406	1.09;1.08	5.6	5.6	0.85130	.	0.145372	0.47852	D	0.000216	T	0.64283	0.2584	M	0.69823	2.125	0.51233	D	0.99991	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.66110	-0.6005	10	0.87932	D	0	-5.4997	15.4641	0.75384	0.0:0.0:1.0:0.0	.	1040;1040	Q8IX21;B1AL17	F178A_HUMAN;.	H	1040	ENSP00000238961:Q1040H;ENSP00000359292:Q1040H	ENSP00000238961:Q1040H	Q	+	3	2	FAM178A	102697594	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	5.896000	0.69822	2.793000	0.96121	0.591000	0.81541	CAG		0.373	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3		Missense_Mutation
NOLC1	9221	broad.mit.edu	37	10	103921966	103921966	+	Silent	SNP	C	C	T			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr10:103921966C>T	ENST00000605788.1	+	13	2275	c.2040C>T	c.(2038-2040)ggC>ggT	p.G680G	NOLC1_ENST00000477977.1_Intron|NOLC1_ENST00000405356.1_Silent_p.G690G|NOLC1_ENST00000488254.2_Silent_p.G681G|NOLC1_ENST00000603742.1_Silent_p.G399G	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	680					cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)	p.G680G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		AGAAGCGGGGCAGCTACCGGG	0.537																																					p.G680G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2040T	10						.						154.0	173.0	167.0					10																	103921966		2203	4300	6503	103911956	SO:0001819	synonymous_variant	9221	exon13			Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.2040C>T	10.37:g.103921966C>T			103911956	NM_004741	Q15030|Q5VV70|Q9BUV3	Silent	SNP	ENST00000605788.1	37	CCDS7530.1																																																																																				0.537	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741	
TCF7L2	6934	broad.mit.edu	37	10	114912149	114912149	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr10:114912149C>T	ENST00000355995.4	+	11	1726	c.1219C>T	c.(1219-1221)Cga>Tga	p.R407*	TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000536810.1_Nonsense_Mutation_p.R407*|TCF7L2_ENST00000355717.4_Nonsense_Mutation_p.R431*|TCF7L2_ENST00000369386.1_Nonsense_Mutation_p.R50*|TCF7L2_ENST00000534894.1_Nonsense_Mutation_p.R407*|TCF7L2_ENST00000542695.1_Nonsense_Mutation_p.R123*|TCF7L2_ENST00000543371.1_Nonsense_Mutation_p.R407*|TCF7L2_ENST00000538897.1_Nonsense_Mutation_p.R407*|TCF7L2_ENST00000352065.5_Nonsense_Mutation_p.R384*|TCF7L2_ENST00000369389.1_Nonsense_Mutation_p.R118*|TCF7L2_ENST00000369397.4_Nonsense_Mutation_p.R384*|TCF7L2_ENST00000545257.1_Nonsense_Mutation_p.R407*			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	407					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|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 type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.R384*(2)|p.R407*(2)	VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCGGAAGGAGCGACAGCTTCA	0.527			T	VTI1A	colorectal																																p.R380X			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	.	.	4	Substitution - Nonsense(4)	large_intestine(4)	c.C1138T	10						.						168.0	173.0	172.0					10																	114912149		2203	4300	6503	114902139	SO:0001587	stop_gained	6934	exon10			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1219C>T	10.37:g.114912149C>T	ENSP00000348274:p.Arg407*		114902139	NM_001146284	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Nonsense_Mutation	SNP	ENST00000355995.4	37		.	.	.	.	.	.	.	.	.	.	c	45	11.714383	0.99594	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000352065;ENST00000542695;ENST00000369389;ENST00000277945;ENST00000369386	.	.	.	5.66	5.66	0.87406	.	0.065778	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.2749	14.5692	0.68200	0.1461:0.8539:0.0:0.0	.	.	.	.	X	407;407;407;407;431;407;407;384;384;123;118;124;50	.	ENSP00000277945:R124X	R	+	1	2	TCF7L2	114902139	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.055000	0.49916	2.669000	0.90835	0.655000	0.94253	CGA		0.527	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
FRMPD2	143162	broad.mit.edu	37	10	49450376	49450376	+	Missense_Mutation	SNP	G	G	A			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr10:49450376G>A	ENST00000374201.3	-	5	697	c.395C>T	c.(394-396)cCc>cTc	p.P132L	FRMPD2_ENST00000305531.3_Missense_Mutation_p.P108L|FRMPD2_ENST00000407470.4_Missense_Mutation_p.P101L	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	132	KIND. {ECO:0000255|PROSITE- ProRule:PRU00709}.				tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)	p.P132L(1)		NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GGAGTGCAGGGGCTCGCAGAG	0.617																																					p.P132L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C395T	10						.						55.0	56.0	56.0					10																	49450376		2203	4300	6503	49120382	SO:0001583	missense	143162	exon5			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.395C>T	10.37:g.49450376G>A	ENSP00000363317:p.Pro132Leu		49120382	NM_001018071	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	G	16.53	3.149699	0.57151	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.28666	1.66;1.6;1.6	5.36	5.36	0.76844	KIND (2);	.	.	.	.	T	0.52629	0.1746	M	0.67953	2.075	0.39700	D	0.971165	D;D;D	0.76494	0.999;0.984;0.999	D;P;D	0.69479	0.964;0.554;0.951	T	0.57010	-0.7884	9	0.72032	D	0.01	.	14.582	0.68298	0.0:0.0:1.0:0.0	.	108;132;101	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	L	132;108;101	ENSP00000363317:P132L;ENSP00000307079:P108L;ENSP00000384339:P101L	ENSP00000307079:P108L	P	-	2	0	FRMPD2	49120382	0.988000	0.35896	0.423000	0.26634	0.559000	0.35586	2.150000	0.42254	2.513000	0.84729	0.655000	0.94253	CCC		0.617	FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428	
EDRF1	26098	broad.mit.edu	37	10	127408419	127408419	+	Missense_Mutation	SNP	G	G	C			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr10:127408419G>C	ENST00000356792.4	+	1	275	c.43G>C	c.(43-45)Ggg>Cgg	p.G15R	C10orf137_ENST00000337623.3_Missense_Mutation_p.G15R|RP11-383C5.5_ENST00000430970.1_RNA|RP11-383C5.4_ENST00000423178.2_lincRNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		15					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.G15R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCCGCCGGCCGGGGCCGCCGC	0.697																																					p.G15R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G43C	10						.						15.0	19.0	18.0					10																	127408419		2181	4271	6452	127398409	SO:0001583	missense	26098	exon1																														ENST00000356792.4:c.43G>C	10.37:g.127408419G>C	ENSP00000349244:p.Gly15Arg		127398409	NM_015608	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	13.14	2.148880	0.37923	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623	T;T	0.38560	1.13;1.13	4.42	4.42	0.53409	.	0.425841	0.20099	N	0.099279	T	0.23846	0.0577	N	0.08118	0	0.33666	D	0.610305	P;P;P	0.46457	0.878;0.878;0.49	B;B;B	0.37833	0.259;0.259;0.259	T	0.43750	-0.9372	10	0.66056	D	0.02	.	14.4215	0.67187	0.0:0.0:1.0:0.0	.	15;15;15	Q3B7T1;Q3B7T1-5;Q3B7T1-3	EDRF1_HUMAN;.;.	R	15	ENSP00000349244:G15R;ENSP00000336727:G15R	ENSP00000336727:G15R	G	+	1	0	C10orf137	127398409	0.407000	0.25352	0.270000	0.24601	0.085000	0.17905	3.824000	0.55723	2.447000	0.82792	0.655000	0.94253	GGG		0.697	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1		
APC	324	broad.mit.edu	37	5	112151261	112151261	+	Nonsense_Mutation	SNP	C	C	T	rs137854568		TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr5:112151261C>T	ENST00000457016.1	+	9	1284	c.904C>T	c.(904-906)Cga>Tga	p.R302*	APC_ENST00000257430.4_Nonsense_Mutation_p.R302*|APC_ENST00000508376.2_Nonsense_Mutation_p.R302*			P25054	APC_HUMAN	adenomatous polyposis coli	302	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R302*(13)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CTCTGCACCTCGAAGGCTGAC	0.428		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.R284X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,colon,Substitution - Nonsense,0	.	13	Substitution - Nonsense(13)	large_intestine(13)	c.C850T	5	GRCh37	CM910029	APC	M	rs137854568	.						113.0	100.0	104.0					5																	112151261		2202	4300	6502	112179160	SO:0001587	stop_gained	324	exon7	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.904C>T	5.37:g.112151261C>T	ENSP00000413133:p.Arg302*		112179160	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	41	8.654520	0.98901	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.5148	18.9031	0.92451	0.0:1.0:0.0:0.0	.	.	.	.	X	302;284;302;302;302	.	ENSP00000257430:R302X	R	+	1	2	APC	112179160	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.567000	0.60850	2.520000	0.84964	0.650000	0.86243	CGA		0.428	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	broad.mit.edu	37	5	112175255	112175255	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr5:112175255G>T	ENST00000457016.1	+	16	4344	c.3964G>T	c.(3964-3966)Gaa>Taa	p.E1322*	APC_ENST00000257430.4_Nonsense_Mutation_p.E1322*|APC_ENST00000508376.2_Nonsense_Mutation_p.E1322*|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1322	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1322*(16)|p.E1322fs*8(2)|p.?(1)|p.K1192fs*3(1)|p.V1320fs*8(1)|p.A1316fs*9(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCCTGTGAGCGAAGTTCCAGC	0.438		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.E1304X	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	APC,large_intestine,NS,Substitution - Nonsense,0	.	22	Substitution - Nonsense(16)|Deletion - Frameshift(5)|Unknown(1)	large_intestine(20)|soft_tissue(1)|skin(1)	c.G3910T	5						.						60.0	62.0	61.0					5																	112175255		2202	4300	6502	112203154	SO:0001587	stop_gained	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3964G>T	5.37:g.112175255G>T	ENSP00000413133:p.Glu1322*		112203154	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	38	6.792240	0.97841	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.03	5.16	0.70880	.	0.282778	0.39475	N	0.001354	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.9003	15.0118	0.71555	0.0685:0.0:0.9315:0.0	.	.	.	.	X	1322	.	.	E	+	1	0	APC	112203154	1.000000	0.71417	0.996000	0.52242	0.469000	0.32828	4.886000	0.63149	1.566000	0.49654	0.655000	0.94253	GAA		0.438	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
Unknown	0	broad.mit.edu	37	5	140568811	140568811	+	IGR	SNP	G	G	C	rs17844594	byFrequency	TCGA-AG-A032-01	TCGA-AG-A032-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr5:140568811G>C								PCDHB16 (3018 upstream) : PCDHB10 (3130 downstream)																							AGCACAGGCTGGTGGTGCTTG	0.687																																					p.W640S												.	.	0			c.G1919C	5						.						31.0	33.0	32.0					5																	140568811		2139	4173	6312	140548995	SO:0001628	intergenic_variant	56127	exon1																															5.37:g.140568811G>C			140548995	NM_019119		Silent	SNP		37																																																																																				0	0.687								
PCDHGB1	56104	broad.mit.edu	37	5	140730878	140730878	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	C	C	C	C	Unknown	Wildtype	None	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr5:140730878C>T	ENST00000523390.1	+	1	1051	c.1051C>T	c.(1051-1053)Cag>Tag	p.Q351*	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	351	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTCTAACCAGATTCCAGA	0.438																																					p.Q351X												.	.	0			c.C1051T	5						.						48.0	48.0	48.0					5																	140730878		1915	4127	6042	140711062	SO:0001587	stop_gained	56104	exon1			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.1051C>T	5.37:g.140730878C>T	ENSP00000429273:p.Gln351*		140711062	NM_018922	Q3SY75|Q9Y5C8	Nonsense_Mutation	SNP	ENST00000523390.1	37	CCDS54923.1	.	.	.	.	.	.	.	.	.	.	.	18.79	3.699897	0.68501	.	.	ENSG00000254221	ENST00000523390	.	.	.	5.49	1.44	0.22558	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	4.5395	0.12050	0.1271:0.612:0.1229:0.1381	.	.	.	.	X	351	.	ENSP00000429273:Q351X	Q	+	1	0	PCDHGB1	140711062	0.000000	0.05858	0.033000	0.17914	0.763000	0.43281	-0.094000	0.11094	0.359000	0.24239	0.563000	0.77884	CAG		0.438	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374740.1	NM_018922	
TENM2	57451	broad.mit.edu	37	5	167420159	167420159	+	Silent	SNP	C	C	A			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr5:167420159C>A	ENST00000518659.1	+	5	1197	c.1158C>A	c.(1156-1158)ctC>ctA	p.L386L	TENM2_ENST00000545108.1_Silent_p.L386L|TENM2_ENST00000520394.1_Silent_p.L195L|TENM2_ENST00000519204.1_Silent_p.L265L|TENM2_ENST00000403607.2_Silent_p.L219L	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	386					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.L219L(1)|p.L386L(1)									CGGCCCTCCTCTTGGCTATTT	0.527																																					p.L386L												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1158A	5						.						41.0	42.0	42.0					5																	167420159		1921	4121	6042	167352737	SO:0001819	synonymous_variant	57451	exon5			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1158C>A	5.37:g.167420159C>A			167352737	NM_001122679	Q9ULU2	Silent	SNP	ENST00000518659.1	37																																																																																					0.527	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
CDH18	1016	broad.mit.edu	37	5	19483526	19483526	+	Missense_Mutation	SNP	C	C	A			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Unspecified	454			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr5:19483526C>A	ENST00000507958.1	-	14	2756	c.1766G>T	c.(1765-1767)tGt>tTt	p.C589F	CDH18_ENST00000506372.1_Missense_Mutation_p.V554L|CDH18_ENST00000502796.1_Missense_Mutation_p.V553L|CDH18_ENST00000382275.1_Missense_Mutation_p.C589F|CDH18_ENST00000274170.4_Missense_Mutation_p.C589F			Q13634	CAD18_HUMAN	cadherin 18, type 2	589	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C589F(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTCGCATGCACAAACCCTGAT	0.517																																					p.C589F												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G1766T	5						.						83.0	70.0	75.0					5																	19483526		2203	4300	6503	19519283	SO:0001583	missense	1016	exon12			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1766G>T	5.37:g.19483526C>A	ENSP00000425093:p.Cys589Phe		19519283	NM_004934	A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	CCDS3889.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.484315|4.484315	0.84854|0.84854	.|.	.|.	ENSG00000145526|ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170|ENST00000506372;ENST00000502796;ENST00000515257	T;T;T|T;T;T	0.53423|0.57752	0.62;0.62;0.62|0.38;0.41;0.48	5.54|5.54	5.54|5.54	0.83059|0.83059	Cadherin (4);Cadherin-like (1);|.	0.102468|.	0.64402|.	D|.	0.000002|.	T|T	0.66117|0.66117	0.2757|0.2757	M|M	0.93978|0.93978	3.48|3.48	0.80722|0.80722	D|D	1|1	D|B	0.89917|0.14438	1.0|0.01	D|B	0.85130|0.18263	0.997|0.021	T|T	0.66913|0.66913	-0.5803|-0.5803	9|8	.|.	.|.	.|.	.|.	18.0513|18.0513	0.89349|0.89349	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	589|553	Q13634|B4DHG6	CAD18_HUMAN|.	F|L	589|554;553;420	ENSP00000371710:C589F;ENSP00000425093:C589F;ENSP00000274170:C589F|ENSP00000424931:V554L;ENSP00000422138:V553L;ENSP00000427383:V420L	.|.	C|V	-|-	2|1	0|0	CDH18|CDH18	19519283|19519283	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.487000|7.487000	0.81328|0.81328	2.615000|2.615000	0.88500|0.88500	0.655000|0.655000	0.94253|0.94253	TGT|GTG		0.517	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
UIMC1	51720	broad.mit.edu	37	5	176396700	176396700	+	Missense_Mutation	SNP	C	C	T			TCGA-AG-A032-01	TCGA-AG-A032-01	C	C					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr5:176396700C>T	ENST00000377227.4	-	5	497	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	UIMC1_ENST00000506128.1_Missense_Mutation_p.R122Q|UIMC1_ENST00000511320.1_Missense_Mutation_p.R122Q|UIMC1_ENST00000377219.2_Missense_Mutation_p.R122Q|UIMC1_ENST00000503273.1_5'Flank			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	122	Necessary for interaction with NR6A1 N- terminus.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)	p.R122Q(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCAGAAGGCCGGCAACTCTG	0.498																																					p.R122Q												.	.	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	c.G365A	5						.						103.0	99.0	100.0					5																	176396700		2203	4300	6503	176329306	SO:0001583	missense	51720	exon5			AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.365G>A	5.37:g.176396700C>T	ENSP00000366434:p.Arg122Gln		176329306	NM_001199298	A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Missense_Mutation	SNP	ENST00000377227.4	37	CCDS4408.1	.	.	.	.	.	.	.	.	.	.	C	9.257	1.042222	0.19748	.	.	ENSG00000087206	ENST00000377227;ENST00000377219;ENST00000511320;ENST00000506128;ENST00000377220;ENST00000509236	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.64	2.47	0.30058	Ubiquitin interacting motif (1);	0.486110	0.19314	N	0.117319	T	0.16471	0.0396	N	0.19112	0.55	0.46542	D	0.999096	B	0.21147	0.052	B	0.08055	0.003	T	0.06625	-1.0816	10	0.26408	T	0.33	0.0817	7.2125	0.25941	0.0:0.6133:0.0:0.3867	.	122	Q96RL1	UIMC1_HUMAN	Q	122;122;122;122;44;122	ENSP00000366434:R122Q;ENSP00000366425:R122Q;ENSP00000421926:R122Q;ENSP00000427480:R122Q;ENSP00000423885:R122Q	ENSP00000366425:R122Q	R	-	2	0	UIMC1	176329306	0.997000	0.39634	1.000000	0.80357	0.993000	0.82548	0.491000	0.22419	0.747000	0.32809	-0.258000	0.10820	CGG		0.498	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290	
RP11-64J4.2	0	broad.mit.edu	37	17	3214529	3214529	+	RNA	SNP	G	G	A			TCGA-AG-A032-01	TCGA-AG-A032-01	G	G					Unknown	Unknown	Somatic	Phase_I	Unspecified	none			Illumina	TCGA-AG-A032-01	TCGA-AG-A032-01	g.chr17:3214529G>A	ENST00000573491.1	-	0	359																		p.D309N(1)									CTGTTCCTCCGATGCTGGCGT	0.587																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	17						.						181.0	149.0	160.0					17																	3214529		2203	4300	6503	3161279			390756	.																															17.37:g.3214529G>A			3161279	.		Missense_Mutation	SNP	ENST00000573491.1	37																																																																																					0.587	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1		
